3833 lines
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- *611055 - SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B
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- OMIM
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<p>
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<span class="h4">*611055</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611055">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000139718;t=ENST00000604567" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=23067" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611055" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000139718;t=ENST00000604567" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001353345,XM_024448898,XM_047428552,XM_047428553" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001353345" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611055" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=19516&isoform_id=19516_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SETD1B" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/5689489,334192482,597439633,1214581277,1370461485,2217288163,2217288165,2462530772,2462530774" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9UPS6" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=23067" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000139718;t=ENST00000604567" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SETD1B" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SETD1B" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+23067" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/SETD1B" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:23067" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/23067" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr12&hgg_gene=ENST00000604567.6&hgg_start=121790155&hgg_end=121832656&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29187" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29187" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611055[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611055[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SETD1B/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000139718" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SETD1B" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SETD1B" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SETD1B" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SETD1B&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA143485611" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:29187" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0040022.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2652820" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/SETD1B#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2652820" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/23067/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=23067" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004782;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050309-289" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23067" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SETD1B&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611055
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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SET1B<br />
|
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LYSINE-SPECIFIC METHYLTRANSFERASE 2G; KMT2G<br />
|
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KIAA1076
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SETD1B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SETD1B</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/12/898?start=-3&limit=10&highlight=898">12q24.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:121790155-121832656&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">12:121,790,155-121,832,656</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/12/898?start=-3&limit=10&highlight=898">
|
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12q24.31
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Intellectual developmental disorder with seizures and language delay
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/entry/619000"> 619000 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/611055" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611055" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<p>The SETD1B gene encodes a catalytic SET domain protein of the histone methyltransferase complex, which mediates methylation of H3K4 sites to play a role in the epigenetic regulation of gene transcription (summary by <a href="#5" class="mim-tip-reference" title="Lee, J. H., Tate, C. M., You, J.S., Skalnik, D. G. <strong>Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.</strong> J. Biol. Chem. 282: 13419-13428, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17355966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17355966</a>] [<a href="https://doi.org/10.1074/jbc.M609809200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17355966">Lee et al., 2007</a>; <a href="#2" class="mim-tip-reference" title="Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H. <strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong> Hum. Genet. 137: 95-104, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29322246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29322246</a>] [<a href="https://doi.org/10.1007/s00439-017-1863-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29322246">Hiraide et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29322246+17355966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated adult brain cDNA library, <a href="#3" class="mim-tip-reference" title="Kikuno, R., Nagase, T., Ishikawa, K., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 197-205, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10470851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10470851</a>] [<a href="https://doi.org/10.1093/dnares/6.3.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10470851">Kikuno et al. (1999)</a> cloned SETD1B, which they designated KIAA1076. RT-PCR ELISA detected wide expression of SETD1B, with highest expression in ovary and testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10470851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By database analysis, <a href="#5" class="mim-tip-reference" title="Lee, J. H., Tate, C. M., You, J.S., Skalnik, D. G. <strong>Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.</strong> J. Biol. Chem. 282: 13419-13428, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17355966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17355966</a>] [<a href="https://doi.org/10.1074/jbc.M609809200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17355966">Lee et al. (2007)</a> found that the 1,923-amino acid SET1B protein shares 39% and 37% sequence identity with human SET1A (SETD1A; <a href="/entry/611052">611052</a>) and S. cerevisiae Set1, respectively. Like SET1A, SET1B contains conserved SET and post-SET domains in the C terminus and an RNA recognition domain in the N terminus, but it lacks the HCF1-binding motif of SETD1A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17355966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#3" class="mim-tip-reference" title="Kikuno, R., Nagase, T., Ishikawa, K., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 197-205, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10470851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10470851</a>] [<a href="https://doi.org/10.1093/dnares/6.3.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10470851">Kikuno et al. (1999)</a> mapped the SETD1B gene to chromosome 12. <a href="#9" class="mim-tip-reference" title="Scott, A. F. <strong>Personal Communication.</strong> Baltimore, Md. 5/9/2007."None>Scott (2007)</a> mapped the gene to 12q24.31 based on an alignment of the SETD1B sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB028999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB028999</a>) with the genomic sequence (build 36.2). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10470851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By immunoprecipitation and mass spectrometry, <a href="#5" class="mim-tip-reference" title="Lee, J. H., Tate, C. M., You, J.S., Skalnik, D. G. <strong>Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.</strong> J. Biol. Chem. 282: 13419-13428, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17355966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17355966</a>] [<a href="https://doi.org/10.1074/jbc.M609809200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17355966">Lee et al. (2007)</a> showed that SET1B associates with an approximately 450-kD complex that contains all 5 noncatalytic components of the SET1A complex, including CXXC1 (<a href="/entry/609150">609150</a>), RBBP5 (<a href="/entry/600697">600697</a>), ASH2 (<a href="/entry/604782">604782</a>), WDR5 (<a href="/entry/609012">609012</a>), and WDR82 (<a href="/entry/611059">611059</a>). In vitro assays demonstrated that the SET1B complex is a histone methyltransferase that produces trimethylated histone H3 at Lys4. Inducible expression of the C terminus of either SET1A or SET1B decreased steady state levels of both endogenous SET1A and SET1B protein, but did not alter the expression of the noncatalytic components of the SET1 complexes. Confocal microscopy revealed that the SET1A and SET1B proteins localize to a largely nonoverlapping set of euchromatic nuclear speckles. <a href="#5" class="mim-tip-reference" title="Lee, J. H., Tate, C. M., You, J.S., Skalnik, D. G. <strong>Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.</strong> J. Biol. Chem. 282: 13419-13428, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17355966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17355966</a>] [<a href="https://doi.org/10.1074/jbc.M609809200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17355966">Lee et al. (2007)</a> suggested that each protein binds to a unique set of target genes and that the proteins make nonredundant contributions to the epigenetic control of chromatin structure and gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17355966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Li, Y., Han, J., Zhang, Y., Cao, F., Liu, Z., Li, S., Wu, J., Hu, C., Wang, Y., Shuai, J., Chen, J., Cao, L., Li, D., Shi, P., Tian, C., Zhang, J., Dou, Y., Li, G., Chen, Y., Lei, M. <strong>Structural basis for activity regulation of MLL family methyltransferases.</strong> Nature 530: 447-452, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26886794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26886794</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26886794[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature16952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26886794">Li et al. (2016)</a> demonstrated that a minimized human RBBP5-ASH2L heterodimer is the structural unit that interacts with and activates all MLL family histone methyltransferases (MLL1, <a href="/entry/159555">159555</a>; MLL2, <a href="/entry/602113">602113</a>; MLL3, <a href="/entry/606833">606833</a>; MLL4, <a href="/entry/606834">606834</a>; SET1A, <a href="/entry/611052">611052</a>; SET1B). Their structural, biochemical, and computational analyses revealed a 2-step activation mechanism of MLL family proteins. <a href="#6" class="mim-tip-reference" title="Li, Y., Han, J., Zhang, Y., Cao, F., Liu, Z., Li, S., Wu, J., Hu, C., Wang, Y., Shuai, J., Chen, J., Cao, L., Li, D., Shi, P., Tian, C., Zhang, J., Dou, Y., Li, G., Chen, Y., Lei, M. <strong>Structural basis for activity regulation of MLL family methyltransferases.</strong> Nature 530: 447-452, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26886794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26886794</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26886794[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature16952" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26886794">Li et al. (2016)</a> concluded that their findings provided unprecedented insights into the common theme and functional plasticity in complex assembly and activity regulation of MLL family methyltransferases, and also suggested a universal regulation mechanism for most histone methyltransferases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26886794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a CRISPR screen, <a href="#7" class="mim-tip-reference" title="Ortmann, B. M., Burrows, N., Lobb, I. T., Arnaiz, E., Wit, N., Bailey, P. S. J., Jordon, L. H., Lombardi, O., Penalver, A., McCaffrey, J., Seear, R., Mole, D. R., Ratcliffe, P. J., Maxwell, P. H., Nathan, J. A. <strong>The HIF complex recruits the histone methyltransferase SET1B to activate specific hypoxia-inducible genes.</strong> Nature Genet. 53: 1022-1035, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34155378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34155378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34155378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41588-021-00887-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34155378">Ortmann et al. (2021)</a> identified human SET1B as a gene required to activate hypoxia-inducible transcription factors (HIFs; see <a href="/entry/603348">603348</a>). RNA-sequencing analysis showed that SET1B selectively drove mRNA expression of HIF target genes in hypoxia. However, SET1B was involved in a more global transcriptional regulation, as SET1B loss led to decreased mRNA expression of both HIF target and control genes, resulting in impaired cell growth, angiogenesis of hypoxia-exposed HeLa or A549 cells, and tumor establishment in xenograft mouse models in hypoxia. SET1B interacted with the HIF heterodimer, and the interaction required both PAS domains of HIF1-alpha (HIF1A; <a href="/entry/603348">603348</a>). Under hypoxia conditions, SET1B accumulated in nucleus and was recruited to chromatin through interaction with the HIF heterodimer for activation of select HIF target genes. On chromatin, SET1B was involved in histone methylation of a subset of HIF target loci by selectively inducing H3K4 trimethylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34155378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated Japanese patients with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#2" class="mim-tip-reference" title="Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H. <strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong> Hum. Genet. 137: 95-104, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29322246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29322246</a>] [<a href="https://doi.org/10.1007/s00439-017-1863-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29322246">Hiraide et al. (2018)</a> identified de novo heterozygous missense mutations in the SETD1B gene (R1842W, <a href="#0001">611055.0001</a>; R1859C, <a href="#0002">611055.0002</a>). The mutations, which were found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, were not present in several public databases, including dbSNP (build 137), 1000 Genomes Project, and ExAC. Functional studies of the variants and studies of patient cells were not performed. The patients were part of a cohort of 337 individuals with childhood-onset epilepsy who underwent trio-based whole-exome sequencing. In addition to the mutation in the SETD1B gene, patient 2, who had a more severe phenotype, carried additional variants in 4 other genes that may have contributed to the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29322246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese girl with IDDSELD, <a href="#1" class="mim-tip-reference" title="Den, K., Kato, M., Yamaguchi, T., Miyatake, S., Takata, A., Mizuguchi, T., Miyake, N., Mitsuhashi, S. Matsumoto, N. <strong>A novel de novo frameshift variant in SETD1B causes epilepsy.</strong> J. Hum. Genet. 64: 821-827, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31110234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31110234</a>] [<a href="https://doi.org/10.1038/s10038-019-0617-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31110234">Den et al. (2019)</a> identified a de novo heterozygous frameshift mutation in the last exon of the SETD1B gene (<a href="#0003">611055.0003</a>) that was demonstrated to escape nonsense-mediated mRNA decay and predicted to produce a truncated protein. Additional functional studies were not performed, but the findings suggested a possible gain-of-function effect. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in multiple public databases, including gnomAD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31110234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients with IDDSELD, <a href="#4" class="mim-tip-reference" title="Krzyzewska, I. M., Maas, S. M., Hennerman, P., Lip, K., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ideda, H., Jacquemont, M., and 15 others. <strong>A genome-wide DNA methylation signature for SETD1B-related syndrome.</strong> Clin. Epigenet. 11: 156, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31685013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31685013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31685013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13148-019-0749-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31685013">Krzyzewska et al. (2019)</a> identified heterozygous mutations in the SETD1B gene (<a href="#0001">611055.0001</a>-<a href="#0002">611055.0002</a>; R1301X, <a href="#0004">611055.0004</a>). Two of the mutations occurred de novo; the inheritance pattern in the third patient was unknown. The mutations were detected by whole-exome sequencing, and some of the patients were found through the GeneMatcher program. Using differential analysis to study patient DNA, <a href="#4" class="mim-tip-reference" title="Krzyzewska, I. M., Maas, S. M., Hennerman, P., Lip, K., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ideda, H., Jacquemont, M., and 15 others. <strong>A genome-wide DNA methylation signature for SETD1B-related syndrome.</strong> Clin. Epigenet. 11: 156, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31685013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31685013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31685013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13148-019-0749-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31685013">Krzyzewska et al. (2019)</a> found a shift of the genomewide methylation status toward hypermethylation compared to controls. This 'episignature' was unique to patients with SETD1B mutations when compared to patients with other neurodevelopmental disorders associated with methylation changes. The authors postulated a loss-of-function effect of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31685013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 unrelated patients with IDDSELD, <a href="#8" class="mim-tip-reference" title="Roston, A., Evans, D., Gill, H., McKinnon, M., Isidor, B., Cogne, B., Mwenifumbo, J., van Karnebeek, C., An, J., Jones, S. J. M., Farrer, M., Demos, M., Connelly, M., Gibson, W. T., CAUSES Study, EPGEN Study. <strong>SETD1B-associated neurodevelopmental disorder.</strong> J. Med. Genet. 58: 196-204, 2021. Note: Erratum: J. Med. Genet. 17Aug, 2022. Advance Electronic Publication.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32546566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32546566</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32546566">Roston et al. (2021)</a> identified 4 different de novo heterozygous mutations in the SETD1B gene (see, e.g., <a href="#0005">611055.0005</a>-<a href="#0007">611055.0007</a>). The mutations were found by exome or genome sequencing. The variants included 2 nonsense, 1 splice site, and 1 missense. Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32546566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others. <strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong> Genet. Med. 23: 2122-2137, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34345025">Weerts et al. (2021)</a> identified mutations in the SETD1B gene in 36 patients with neurodevelopmental disorders. Thirty-two patients had heterozygous mutations, of which 28 occurred de novo, 1 was inherited from an affected parent, and 1 was inherited from an unaffected parent; the inheritance pattern of 2 was unknown. Of the heterozygous mutations, 14 were considered to be pathogenic (see, e.g., <a href="#0008">611055.0008</a>-<a href="#0012">611055.0012</a>) and 10 were considered to be likely pathogenic. Four patients (patients 3, 4, 11, and 12) from 3 families had biallelic variants of unknown significance in the SETD1B gene, which were inherited from unaffected carrier parents. <a href="#10" class="mim-tip-reference" title="Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others. <strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong> Genet. Med. 23: 2122-2137, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34345025">Weerts et al. (2021)</a> hypothesized that the biallelic variants, in combination, could reduce SETD1B function below a required threshold, leading to a phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34345025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611055[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1876920040 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1876920040;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1876920040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1876920040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 12-year-old Japanese girl (patient 1) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#2" class="mim-tip-reference" title="Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H. <strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong> Hum. Genet. 137: 95-104, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29322246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29322246</a>] [<a href="https://doi.org/10.1007/s00439-017-1863-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29322246">Hiraide et al. (2018)</a> identified a de novo heterozygous c.5524C-T transition (c.5524C-T, NM_015048.1) in the SETD1B gene, resulting in an arg1842-to-trp (R1842W) substitution at a conserved residue in the C-terminal SET domain. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not present in several public databases, including dbSNP (build 137), 1000 Genomes Project, and ExAC. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29322246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 7-year-old boy (patient 5) with IDDSELD, <a href="#4" class="mim-tip-reference" title="Krzyzewska, I. M., Maas, S. M., Hennerman, P., Lip, K., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ideda, H., Jacquemont, M., and 15 others. <strong>A genome-wide DNA methylation signature for SETD1B-related syndrome.</strong> Clin. Epigenet. 11: 156, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31685013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31685013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31685013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13148-019-0749-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31685013">Krzyzewska et al. (2019)</a> identified a heterozygous arg188-to-trp (R1885W) mutation in the SETD1B gene, which was the same mutation as that reported by <a href="#2" class="mim-tip-reference" title="Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H. <strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong> Hum. Genet. 137: 95-104, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29322246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29322246</a>] [<a href="https://doi.org/10.1007/s00439-017-1863-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29322246">Hiraide et al. (2018)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29322246+31685013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1876922399 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1876922399;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1876922399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1876922399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 34-year-old Japanese man (patient 2) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#2" class="mim-tip-reference" title="Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H. <strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong> Hum. Genet. 137: 95-104, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29322246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29322246</a>] [<a href="https://doi.org/10.1007/s00439-017-1863-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29322246">Hiraide et al. (2018)</a> identified a de novo heterozygous c.5575C-T transition (c.5575C-T, NM_015048.1) in the SETD1B gene, resulting in an arg1859-to-cys (R1859C) substitution at a conserved residue in the C-terminal SET domain. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not present in several public databases, including dbSNP (build 137), 1000 Genomes Project, and ExAC. Functional studies of the variant and studies of patient cells were not performed. This patient also carried additional variants in 4 other genes that may have contributed to the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29322246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 16-year-old boy (patient 2) with IDDSELD, <a href="#4" class="mim-tip-reference" title="Krzyzewska, I. M., Maas, S. M., Hennerman, P., Lip, K., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ideda, H., Jacquemont, M., and 15 others. <strong>A genome-wide DNA methylation signature for SETD1B-related syndrome.</strong> Clin. Epigenet. 11: 156, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31685013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31685013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31685013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13148-019-0749-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31685013">Krzyzewska et al. (2019)</a> identified a de novo heterozygous arg1902-to-cys (R1902C) mutation in the SETD1B gene, which was the same mutation as that reported by <a href="#2" class="mim-tip-reference" title="Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H. <strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong> Hum. Genet. 137: 95-104, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29322246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29322246</a>] [<a href="https://doi.org/10.1007/s00439-017-1863-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29322246">Hiraide et al. (2018)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29322246+31685013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1877023557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1877023557;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1877023557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1877023557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001255152" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001255152" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001255152</a>
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<p>In a Japanese girl with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#1" class="mim-tip-reference" title="Den, K., Kato, M., Yamaguchi, T., Miyatake, S., Takata, A., Mizuguchi, T., Miyake, N., Mitsuhashi, S. Matsumoto, N. <strong>A novel de novo frameshift variant in SETD1B causes epilepsy.</strong> J. Hum. Genet. 64: 821-827, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31110234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31110234</a>] [<a href="https://doi.org/10.1038/s10038-019-0617-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31110234">Den et al. (2019)</a> identified a de novo heterozygous 4-bp deletion (c.5644_5647delATAG, NM_015048.1) in exon 17 of the SETD1B gene, resulting in a frameshift and premature termination (Ile1882SerfsTer118). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in multiple public databases, including gnomAD. The mutation, which occurred in the last exon, was demonstrated to escape nonsense-mediated mRNA decay and predicted to produce a truncated protein. Additional functional studies were not performed, but the findings suggested a possible gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31110234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, ARG1301TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2137572221 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2137572221;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2137572221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2137572221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001255153" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001255153" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001255153</a>
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<p>In a 13-year-old boy (patient 1) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#4" class="mim-tip-reference" title="Krzyzewska, I. M., Maas, S. M., Hennerman, P., Lip, K., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ideda, H., Jacquemont, M., and 15 others. <strong>A genome-wide DNA methylation signature for SETD1B-related syndrome.</strong> Clin. Epigenet. 11: 156, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31685013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31685013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31685013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13148-019-0749-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31685013">Krzyzewska et al. (2019)</a> identified a de novo heterozygous mutation in the SETD1B gene, resulting in an arg1301-to-ter (R1301X) substitution. The authors predicted a loss-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31685013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, GLN978TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1876334453 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1876334453;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1876334453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1876334453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001255154" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001255154" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001255154</a>
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<p>In a 12-year-old boy (patient 4) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#8" class="mim-tip-reference" title="Roston, A., Evans, D., Gill, H., McKinnon, M., Isidor, B., Cogne, B., Mwenifumbo, J., van Karnebeek, C., An, J., Jones, S. J. M., Farrer, M., Demos, M., Connelly, M., Gibson, W. T., CAUSES Study, EPGEN Study. <strong>SETD1B-associated neurodevelopmental disorder.</strong> J. Med. Genet. 58: 196-204, 2021. Note: Erratum: J. Med. Genet. 17Aug, 2022. Advance Electronic Publication.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32546566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32546566</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32546566">Roston et al. (2021)</a> identified a de novo heterozygous c.2932C-T transition (c.2932C-T, NM_015048.1) in the SETD1B gene, resulting in a gln978-to-ter (Q978X) substitution. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32546566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4>
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<span class="mim-font">
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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</span>
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SETD1B, GLN1322TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1876610129 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1876610129;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1876610129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1876610129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001255155" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001255155" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001255155</a>
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<p>In a 19-year-old woman (patient 2) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#8" class="mim-tip-reference" title="Roston, A., Evans, D., Gill, H., McKinnon, M., Isidor, B., Cogne, B., Mwenifumbo, J., van Karnebeek, C., An, J., Jones, S. J. M., Farrer, M., Demos, M., Connelly, M., Gibson, W. T., CAUSES Study, EPGEN Study. <strong>SETD1B-associated neurodevelopmental disorder.</strong> J. Med. Genet. 58: 196-204, 2021. Note: Erratum: J. Med. Genet. 17Aug, 2022. Advance Electronic Publication.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32546566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32546566</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32546566">Roston et al. (2021)</a> identified a de novo heterozygous c.3964C-T transition (c.3964C-T, NM_015048.1) in the SETD1B gene, resulting in a gln1322-to-ter (Q1322X) substitution. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32546566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, PHE1945LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1877026127 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1877026127;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1877026127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1877026127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001255156" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001255156" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001255156</a>
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<p>In a 3.5-year-old boy (patient 3) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#8" class="mim-tip-reference" title="Roston, A., Evans, D., Gill, H., McKinnon, M., Isidor, B., Cogne, B., Mwenifumbo, J., van Karnebeek, C., An, J., Jones, S. J. M., Farrer, M., Demos, M., Connelly, M., Gibson, W. T., CAUSES Study, EPGEN Study. <strong>SETD1B-associated neurodevelopmental disorder.</strong> J. Med. Genet. 58: 196-204, 2021. Note: Erratum: J. Med. Genet. 17Aug, 2022. Advance Electronic Publication.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32546566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32546566</a>] [<a href="https://doi.org/10.1136/jmedgenet-2019-106756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32546566">Roston et al. (2021)</a> identified a de novo heterozygous c.5833T-C transition (c.5833T-C, NM_001353345.1) in the SETD1B gene, resulting in a phe1945-to-leu (F1945L) substitution. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32546566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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</h4>
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SETD1B, GLU1948LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2137594297 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2137594297;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2137594297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2137594297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001548318 OR RCV003224569" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001548318, RCV003224569" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001548318...</a>
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<p>In a 44-year-old man (patient 33) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#10" class="mim-tip-reference" title="Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others. <strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong> Genet. Med. 23: 2122-2137, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34345025">Weerts et al. (2021)</a> identified a de novo heterozygous c.5842G-A transition (c.5842G-A, NM_001353345) in the SETD1B gene, resulting in a glu1948-to-lys (E1948K) substitution. The mutation was identified by whole-exome sequencing. SETD1B with the E1948K mutation was expressed in HEK293 cells and had lower colocalization with the COMPASS subunit ASH2 compared to wildtype. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34345025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, ALA1901GLU
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003222495" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003222495" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003222495</a>
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<p>In a 22-year-old man (patient 31) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#10" class="mim-tip-reference" title="Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others. <strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong> Genet. Med. 23: 2122-2137, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34345025">Weerts et al. (2021)</a> identified a de novo heterozygous c.5702C-A transversion (c.5702C-A, NM_01353345) in the SETD1B gene, resulting in an ala1902-to-glu (A1901E) substitution. The mutation was identified by whole-exome sequencing. SETD1B protein with the A1901E mutation had abnormal thermal stability. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34345025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, c.284_286delinsA
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003222496" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003222496" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003222496</a>
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<p>In a 7-year-old girl (patient 5) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#10" class="mim-tip-reference" title="Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others. <strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong> Genet. Med. 23: 2122-2137, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34345025">Weerts et al. (2021)</a> identified a de novo heterozygous c.284_286delinsA mutation (c.284_286delinsA, NM_001353345) in the SETD1B gene, resulting in a phe95-to-ter (F95X) substitution. The mutation was identified by whole-exome sequencing. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34345025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, 27-BP INV, NT337
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003222497" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003222497" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003222497</a>
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<p>In a 30-year-old man (patient 7) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#10" class="mim-tip-reference" title="Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others. <strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong> Genet. Med. 23: 2122-2137, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34345025">Weerts et al. (2021)</a> identified a de novo heterozygous 27-bp inversion (c.337_363inv, NM_001353345) in the SETD1B gene, resulting in an asn113_asp121delins9 deletion/insertion. The mutation was identified by whole-exome sequencing. Expression of SETD1B with the c.337_363inv in HEK293 cells showed that the mutant protein failed to properly localize to the nucleus. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34345025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, ALA1129VAL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003222498" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003222498" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003222498</a>
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<p>In a 7-year-old boy (patient 20) with intellectual developmental disorder with seizures and language delay (IDDSELD; <a href="/entry/619000">619000</a>), <a href="#10" class="mim-tip-reference" title="Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others. <strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong> Genet. Med. 23: 2122-2137, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34345025">Weerts et al. (2021)</a> identified a de novo heterozygous c.3386C-T transition (c.3386C-T, NM_001353345) in the SETD1B gene, resulting in an ala1129-to-val (A1129V) substitution. The mutation was identified by whole-exome sequencing. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34345025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Den2019" class="mim-anchor"></a>
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Den, K., Kato, M., Yamaguchi, T., Miyatake, S., Takata, A., Mizuguchi, T., Miyake, N., Mitsuhashi, S. Matsumoto, N.
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<strong>A novel de novo frameshift variant in SETD1B causes epilepsy.</strong>
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J. Hum. Genet. 64: 821-827, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31110234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31110234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31110234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s10038-019-0617-1" target="_blank">Full Text</a>]
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Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H.
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<strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong>
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Hum. Genet. 137: 95-104, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29322246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29322246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29322246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-017-1863-y" target="_blank">Full Text</a>]
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Kikuno, R., Nagase, T., Ishikawa, K., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 197-205, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10470851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10470851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10470851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/6.3.197" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
|
|
<a id="Krzyzewska2019" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krzyzewska, I. M., Maas, S. M., Hennerman, P., Lip, K., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ideda, H., Jacquemont, M., and 15 others.
|
|
<strong>A genome-wide DNA methylation signature for SETD1B-related syndrome.</strong>
|
|
Clin. Epigenet. 11: 156, 2019. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31685013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31685013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31685013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31685013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/s13148-019-0749-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Lee2007" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Lee, J. H., Tate, C. M., You, J.S., Skalnik, D. G.
|
|
<strong>Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.</strong>
|
|
J. Biol. Chem. 282: 13419-13428, 2007.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17355966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17355966</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17355966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M609809200" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Li2016" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Li, Y., Han, J., Zhang, Y., Cao, F., Liu, Z., Li, S., Wu, J., Hu, C., Wang, Y., Shuai, J., Chen, J., Cao, L., Li, D., Shi, P., Tian, C., Zhang, J., Dou, Y., Li, G., Chen, Y., Lei, M.
|
|
<strong>Structural basis for activity regulation of MLL family methyltransferases.</strong>
|
|
Nature 530: 447-452, 2016.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26886794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26886794</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26886794[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26886794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature16952" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Ortmann2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ortmann, B. M., Burrows, N., Lobb, I. T., Arnaiz, E., Wit, N., Bailey, P. S. J., Jordon, L. H., Lombardi, O., Penalver, A., McCaffrey, J., Seear, R., Mole, D. R., Ratcliffe, P. J., Maxwell, P. H., Nathan, J. A.
|
|
<strong>The HIF complex recruits the histone methyltransferase SET1B to activate specific hypoxia-inducible genes.</strong>
|
|
Nature Genet. 53: 1022-1035, 2021.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34155378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34155378</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34155378[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34155378" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41588-021-00887-y" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Roston2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roston, A., Evans, D., Gill, H., McKinnon, M., Isidor, B., Cogne, B., Mwenifumbo, J., van Karnebeek, C., An, J., Jones, S. J. M., Farrer, M., Demos, M., Connelly, M., Gibson, W. T., CAUSES Study, EPGEN Study.
|
|
<strong>SETD1B-associated neurodevelopmental disorder.</strong>
|
|
J. Med. Genet. 58: 196-204, 2021. Note: Erratum: J. Med. Genet. 17Aug, 2022. Advance Electronic Publication.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32546566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32546566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32546566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2019-106756" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Scott2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scott, A. F.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/9/2007.
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Weerts2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others.
|
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<strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong>
|
|
Genet. Med. 23: 2122-2137, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34345025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34345025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34345025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34345025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41436-021-01246-2" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/14/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 08/19/2021<br>Cassandra L. Kniffin - updated : 08/27/2020<br>Ada Hamosh - updated : 12/19/2016
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott : 5/23/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/17/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/14/2023<br>carol : 01/23/2023<br>alopez : 11/09/2022<br>carol : 08/20/2021<br>mgross : 08/19/2021<br>carol : 06/07/2021<br>carol : 02/23/2021<br>carol : 09/10/2020<br>carol : 09/08/2020<br>carol : 09/03/2020<br>carol : 09/02/2020<br>ckniffin : 08/27/2020<br>alopez : 12/19/2016<br>mgross : 03/14/2014<br>carol : 5/23/2007<br>carol : 5/23/2007
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611055
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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SET1B<br />
|
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LYSINE-SPECIFIC METHYLTRANSFERASE 2G; KMT2G<br />
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KIAA1076
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: SETD1B</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
|
Cytogenetic location: 12q24.31
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 12:121,790,155-121,832,656 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
12q24.31
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Intellectual developmental disorder with seizures and language delay
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
619000
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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|
<span class="mim-text-font">
|
|
<p>The SETD1B gene encodes a catalytic SET domain protein of the histone methyltransferase complex, which mediates methylation of H3K4 sites to play a role in the epigenetic regulation of gene transcription (summary by Lee et al., 2007; Hiraide et al., 2018). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By sequencing clones obtained from a size-fractionated adult brain cDNA library, Kikuno et al. (1999) cloned SETD1B, which they designated KIAA1076. RT-PCR ELISA detected wide expression of SETD1B, with highest expression in ovary and testis. </p><p>By database analysis, Lee et al. (2007) found that the 1,923-amino acid SET1B protein shares 39% and 37% sequence identity with human SET1A (SETD1A; 611052) and S. cerevisiae Set1, respectively. Like SET1A, SET1B contains conserved SET and post-SET domains in the C terminus and an RNA recognition domain in the N terminus, but it lacks the HCF1-binding motif of SETD1A. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Kikuno et al. (1999) mapped the SETD1B gene to chromosome 12. Scott (2007) mapped the gene to 12q24.31 based on an alignment of the SETD1B sequence (GenBank AB028999) with the genomic sequence (build 36.2). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By immunoprecipitation and mass spectrometry, Lee et al. (2007) showed that SET1B associates with an approximately 450-kD complex that contains all 5 noncatalytic components of the SET1A complex, including CXXC1 (609150), RBBP5 (600697), ASH2 (604782), WDR5 (609012), and WDR82 (611059). In vitro assays demonstrated that the SET1B complex is a histone methyltransferase that produces trimethylated histone H3 at Lys4. Inducible expression of the C terminus of either SET1A or SET1B decreased steady state levels of both endogenous SET1A and SET1B protein, but did not alter the expression of the noncatalytic components of the SET1 complexes. Confocal microscopy revealed that the SET1A and SET1B proteins localize to a largely nonoverlapping set of euchromatic nuclear speckles. Lee et al. (2007) suggested that each protein binds to a unique set of target genes and that the proteins make nonredundant contributions to the epigenetic control of chromatin structure and gene expression. </p><p>Li et al. (2016) demonstrated that a minimized human RBBP5-ASH2L heterodimer is the structural unit that interacts with and activates all MLL family histone methyltransferases (MLL1, 159555; MLL2, 602113; MLL3, 606833; MLL4, 606834; SET1A, 611052; SET1B). Their structural, biochemical, and computational analyses revealed a 2-step activation mechanism of MLL family proteins. Li et al. (2016) concluded that their findings provided unprecedented insights into the common theme and functional plasticity in complex assembly and activity regulation of MLL family methyltransferases, and also suggested a universal regulation mechanism for most histone methyltransferases. </p><p>Using a CRISPR screen, Ortmann et al. (2021) identified human SET1B as a gene required to activate hypoxia-inducible transcription factors (HIFs; see 603348). RNA-sequencing analysis showed that SET1B selectively drove mRNA expression of HIF target genes in hypoxia. However, SET1B was involved in a more global transcriptional regulation, as SET1B loss led to decreased mRNA expression of both HIF target and control genes, resulting in impaired cell growth, angiogenesis of hypoxia-exposed HeLa or A549 cells, and tumor establishment in xenograft mouse models in hypoxia. SET1B interacted with the HIF heterodimer, and the interaction required both PAS domains of HIF1-alpha (HIF1A; 603348). Under hypoxia conditions, SET1B accumulated in nucleus and was recruited to chromatin through interaction with the HIF heterodimer for activation of select HIF target genes. On chromatin, SET1B was involved in histone methylation of a subset of HIF target loci by selectively inducing H3K4 trimethylation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>In 2 unrelated Japanese patients with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Hiraide et al. (2018) identified de novo heterozygous missense mutations in the SETD1B gene (R1842W, 611055.0001; R1859C, 611055.0002). The mutations, which were found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, were not present in several public databases, including dbSNP (build 137), 1000 Genomes Project, and ExAC. Functional studies of the variants and studies of patient cells were not performed. The patients were part of a cohort of 337 individuals with childhood-onset epilepsy who underwent trio-based whole-exome sequencing. In addition to the mutation in the SETD1B gene, patient 2, who had a more severe phenotype, carried additional variants in 4 other genes that may have contributed to the disorder. </p><p>In a Japanese girl with IDDSELD, Den et al. (2019) identified a de novo heterozygous frameshift mutation in the last exon of the SETD1B gene (611055.0003) that was demonstrated to escape nonsense-mediated mRNA decay and predicted to produce a truncated protein. Additional functional studies were not performed, but the findings suggested a possible gain-of-function effect. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in multiple public databases, including gnomAD. </p><p>In 3 unrelated patients with IDDSELD, Krzyzewska et al. (2019) identified heterozygous mutations in the SETD1B gene (611055.0001-611055.0002; R1301X, 611055.0004). Two of the mutations occurred de novo; the inheritance pattern in the third patient was unknown. The mutations were detected by whole-exome sequencing, and some of the patients were found through the GeneMatcher program. Using differential analysis to study patient DNA, Krzyzewska et al. (2019) found a shift of the genomewide methylation status toward hypermethylation compared to controls. This 'episignature' was unique to patients with SETD1B mutations when compared to patients with other neurodevelopmental disorders associated with methylation changes. The authors postulated a loss-of-function effect of the mutations. </p><p>In 4 unrelated patients with IDDSELD, Roston et al. (2021) identified 4 different de novo heterozygous mutations in the SETD1B gene (see, e.g., 611055.0005-611055.0007). The mutations were found by exome or genome sequencing. The variants included 2 nonsense, 1 splice site, and 1 missense. Functional studies of the variants and studies of patient cells were not performed. </p><p>Weerts et al. (2021) identified mutations in the SETD1B gene in 36 patients with neurodevelopmental disorders. Thirty-two patients had heterozygous mutations, of which 28 occurred de novo, 1 was inherited from an affected parent, and 1 was inherited from an unaffected parent; the inheritance pattern of 2 was unknown. Of the heterozygous mutations, 14 were considered to be pathogenic (see, e.g., 611055.0008-611055.0012) and 10 were considered to be likely pathogenic. Four patients (patients 3, 4, 11, and 12) from 3 families had biallelic variants of unknown significance in the SETD1B gene, which were inherited from unaffected carrier parents. Weerts et al. (2021) hypothesized that the biallelic variants, in combination, could reduce SETD1B function below a required threshold, leading to a phenotype. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>12 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SETD1B, ARG1842TRP
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<br />
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SNP: rs1876920040,
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ClinVar: RCV001255193
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 12-year-old Japanese girl (patient 1) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Hiraide et al. (2018) identified a de novo heterozygous c.5524C-T transition (c.5524C-T, NM_015048.1) in the SETD1B gene, resulting in an arg1842-to-trp (R1842W) substitution at a conserved residue in the C-terminal SET domain. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not present in several public databases, including dbSNP (build 137), 1000 Genomes Project, and ExAC. Functional studies of the variant and studies of patient cells were not performed. </p><p>In a 7-year-old boy (patient 5) with IDDSELD, Krzyzewska et al. (2019) identified a heterozygous arg188-to-trp (R1885W) mutation in the SETD1B gene, which was the same mutation as that reported by Hiraide et al. (2018). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SETD1B, ARG1859CYS
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<br />
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SNP: rs1876922399,
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ClinVar: RCV001255194, RCV001267570, RCV003319457
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 34-year-old Japanese man (patient 2) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Hiraide et al. (2018) identified a de novo heterozygous c.5575C-T transition (c.5575C-T, NM_015048.1) in the SETD1B gene, resulting in an arg1859-to-cys (R1859C) substitution at a conserved residue in the C-terminal SET domain. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not present in several public databases, including dbSNP (build 137), 1000 Genomes Project, and ExAC. Functional studies of the variant and studies of patient cells were not performed. This patient also carried additional variants in 4 other genes that may have contributed to the disorder. </p><p>In a 16-year-old boy (patient 2) with IDDSELD, Krzyzewska et al. (2019) identified a de novo heterozygous arg1902-to-cys (R1902C) mutation in the SETD1B gene, which was the same mutation as that reported by Hiraide et al. (2018). </p>
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</span>
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</div>
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<div>
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
SETD1B, 4-BP DEL, 5466ATAG
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<br />
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|
|
SNP: rs1877023557,
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|
|
ClinVar: RCV001255152
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|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese girl with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Den et al. (2019) identified a de novo heterozygous 4-bp deletion (c.5644_5647delATAG, NM_015048.1) in exon 17 of the SETD1B gene, resulting in a frameshift and premature termination (Ile1882SerfsTer118). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in multiple public databases, including gnomAD. The mutation, which occurred in the last exon, was demonstrated to escape nonsense-mediated mRNA decay and predicted to produce a truncated protein. Additional functional studies were not performed, but the findings suggested a possible gain-of-function effect. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
SETD1B, ARG1301TER
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|
<br />
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|
|
SNP: rs2137572221,
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|
|
ClinVar: RCV001255153
|
|
|
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|
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</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old boy (patient 1) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Krzyzewska et al. (2019) identified a de novo heterozygous mutation in the SETD1B gene, resulting in an arg1301-to-ter (R1301X) substitution. The authors predicted a loss-of-function effect. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETD1B, GLN978TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1876334453,
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|
|
|
|
|
|
|
ClinVar: RCV001255154
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old boy (patient 4) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Roston et al. (2021) identified a de novo heterozygous c.2932C-T transition (c.2932C-T, NM_015048.1) in the SETD1B gene, resulting in a gln978-to-ter (Q978X) substitution. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETD1B, GLN1322TER
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs1876610129,
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|
|
|
|
|
|
|
ClinVar: RCV001255155
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 19-year-old woman (patient 2) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Roston et al. (2021) identified a de novo heterozygous c.3964C-T transition (c.3964C-T, NM_015048.1) in the SETD1B gene, resulting in a gln1322-to-ter (Q1322X) substitution. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in nonsense-mediated mRNA decay and a loss of function. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SETD1B, PHE1945LEU
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|
|
|
<br />
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|
|
|
SNP: rs1877026127,
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|
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|
|
|
ClinVar: RCV001255156
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3.5-year-old boy (patient 3) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Roston et al. (2021) identified a de novo heterozygous c.5833T-C transition (c.5833T-C, NM_001353345.1) in the SETD1B gene, resulting in a phe1945-to-leu (F1945L) substitution. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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SETD1B, GLU1948LYS
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|
<br />
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|
|
SNP: rs2137594297,
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|
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|
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|
|
ClinVar: RCV001548318, RCV003224569
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|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 44-year-old man (patient 33) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Weerts et al. (2021) identified a de novo heterozygous c.5842G-A transition (c.5842G-A, NM_001353345) in the SETD1B gene, resulting in a glu1948-to-lys (E1948K) substitution. The mutation was identified by whole-exome sequencing. SETD1B with the E1948K mutation was expressed in HEK293 cells and had lower colocalization with the COMPASS subunit ASH2 compared to wildtype. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
|
SETD1B, ALA1901GLU
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<br />
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|
|
|
|
|
|
|
ClinVar: RCV003222495
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|
|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 22-year-old man (patient 31) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Weerts et al. (2021) identified a de novo heterozygous c.5702C-A transversion (c.5702C-A, NM_01353345) in the SETD1B gene, resulting in an ala1902-to-glu (A1901E) substitution. The mutation was identified by whole-exome sequencing. SETD1B protein with the A1901E mutation had abnormal thermal stability. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
|
|
</span>
|
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</h4>
|
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</div>
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SETD1B, c.284_286delinsA
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ClinVar: RCV003222496
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<p>In a 7-year-old girl (patient 5) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Weerts et al. (2021) identified a de novo heterozygous c.284_286delinsA mutation (c.284_286delinsA, NM_001353345) in the SETD1B gene, resulting in a phe95-to-ter (F95X) substitution. The mutation was identified by whole-exome sequencing. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. </p>
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<strong>.0011 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, 27-BP INV, NT337
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ClinVar: RCV003222497
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<p>In a 30-year-old man (patient 7) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Weerts et al. (2021) identified a de novo heterozygous 27-bp inversion (c.337_363inv, NM_001353345) in the SETD1B gene, resulting in an asn113_asp121delins9 deletion/insertion. The mutation was identified by whole-exome sequencing. Expression of SETD1B with the c.337_363inv in HEK293 cells showed that the mutant protein failed to properly localize to the nucleus. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. </p>
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<span class="mim-font">
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<strong>.0012 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY</strong>
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SETD1B, ALA1129VAL
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ClinVar: RCV003222498
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<p>In a 7-year-old boy (patient 20) with intellectual developmental disorder with seizures and language delay (IDDSELD; 619000), Weerts et al. (2021) identified a de novo heterozygous c.3386C-T transition (c.3386C-T, NM_001353345) in the SETD1B gene, resulting in an ala1129-to-val (A1129V) substitution. The mutation was identified by whole-exome sequencing. The DNA methylation pattern identified in the patient was consistent with the episignature reported in other patients with pathogenic SETD1B mutations. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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Den, K., Kato, M., Yamaguchi, T., Miyatake, S., Takata, A., Mizuguchi, T., Miyake, N., Mitsuhashi, S. Matsumoto, N.
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<strong>A novel de novo frameshift variant in SETD1B causes epilepsy.</strong>
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J. Hum. Genet. 64: 821-827, 2019.
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[PubMed: 31110234]
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[Full Text: https://doi.org/10.1038/s10038-019-0617-1]
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</li>
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<li>
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Hiraide, T., Nakashima, M., Yamoto, K., Fukuda, T., Kato, M., Ikeda, H., Sugie, Y., Aoto, K., Kaname, T., Nakabayashi, K., Ogata, T., Matsumoto, N., Saitsu, H.
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<strong>De novo variants in SETD are associated with intellectual disability, epilepsy and autism.</strong>
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Hum. Genet. 137: 95-104, 2018.
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[PubMed: 29322246]
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[Full Text: https://doi.org/10.1007/s00439-017-1863-y]
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<li>
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Kikuno, R., Nagase, T., Ishikawa, K., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 197-205, 1999.
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[PubMed: 10470851]
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[Full Text: https://doi.org/10.1093/dnares/6.3.197]
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</li>
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<p class="mim-text-font">
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Krzyzewska, I. M., Maas, S. M., Hennerman, P., Lip, K., Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ideda, H., Jacquemont, M., and 15 others.
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<strong>A genome-wide DNA methylation signature for SETD1B-related syndrome.</strong>
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Clin. Epigenet. 11: 156, 2019. Note: Electronic Article.
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[PubMed: 31685013]
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[Full Text: https://doi.org/10.1186/s13148-019-0749-3]
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</li>
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<p class="mim-text-font">
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Lee, J. H., Tate, C. M., You, J.S., Skalnik, D. G.
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<strong>Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.</strong>
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J. Biol. Chem. 282: 13419-13428, 2007.
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[PubMed: 17355966]
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[Full Text: https://doi.org/10.1074/jbc.M609809200]
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<p class="mim-text-font">
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Li, Y., Han, J., Zhang, Y., Cao, F., Liu, Z., Li, S., Wu, J., Hu, C., Wang, Y., Shuai, J., Chen, J., Cao, L., Li, D., Shi, P., Tian, C., Zhang, J., Dou, Y., Li, G., Chen, Y., Lei, M.
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<strong>Structural basis for activity regulation of MLL family methyltransferases.</strong>
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Nature 530: 447-452, 2016.
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[PubMed: 26886794]
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[Full Text: https://doi.org/10.1038/nature16952]
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<li>
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<p class="mim-text-font">
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Ortmann, B. M., Burrows, N., Lobb, I. T., Arnaiz, E., Wit, N., Bailey, P. S. J., Jordon, L. H., Lombardi, O., Penalver, A., McCaffrey, J., Seear, R., Mole, D. R., Ratcliffe, P. J., Maxwell, P. H., Nathan, J. A.
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<strong>The HIF complex recruits the histone methyltransferase SET1B to activate specific hypoxia-inducible genes.</strong>
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Nature Genet. 53: 1022-1035, 2021.
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[PubMed: 34155378]
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[Full Text: https://doi.org/10.1038/s41588-021-00887-y]
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<p class="mim-text-font">
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Roston, A., Evans, D., Gill, H., McKinnon, M., Isidor, B., Cogne, B., Mwenifumbo, J., van Karnebeek, C., An, J., Jones, S. J. M., Farrer, M., Demos, M., Connelly, M., Gibson, W. T., CAUSES Study, EPGEN Study.
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<strong>SETD1B-associated neurodevelopmental disorder.</strong>
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J. Med. Genet. 58: 196-204, 2021. Note: Erratum: J. Med. Genet. 17Aug, 2022. Advance Electronic Publication.
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[PubMed: 32546566]
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[Full Text: https://doi.org/10.1136/jmedgenet-2019-106756]
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<p class="mim-text-font">
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Scott, A. F.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 5/9/2007.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weerts, M. J. A., Lanko, K., Guzman-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londono, K. J., Pena-Guerra, K. A., van Bever, Y., van Paassen, B. W., Kievit, A., van Slegtenhorst, M., Allen, N. M., and 86 others.
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<strong>Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.</strong>
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Genet. Med. 23: 2122-2137, 2021.
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[PubMed: 34345025]
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[Full Text: https://doi.org/10.1038/s41436-021-01246-2]
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Hilary J. Vernon - updated : 04/14/2023<br>Bao Lige - updated : 08/19/2021<br>Cassandra L. Kniffin - updated : 08/27/2020<br>Ada Hamosh - updated : 12/19/2016
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Alan F. Scott : 5/23/2007
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