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Entry
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- *615115 - ASXL TRANSCRIPTIONAL REGULATOR 3; ASXL3
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- OMIM
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<p>
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<span class="h4">*615115</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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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</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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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/615115">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>
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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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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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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<h4 class="panel-title">
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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 class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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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=ENSG00000141431;t=ENST00000269197" 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=80816" 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=615115" 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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<span class="small">
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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=ENSG00000141431;t=ENST00000269197" 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_030632,XM_005258356,XM_011526205,XM_011526206,XM_011526209,XM_011526212,XM_017026012,XM_024451269" 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_030632" 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=615115" 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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<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://www.proteinatlas.org/search/ASXL3" 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/6453467,16551856,20521970,47077423,149944526,172046234,530413971,767999322,767999325,767999332,767999339,1034604804,1370473865,2462561693,2462561695,2462561697,2462561699,2462561701,2462561703,2462561705" 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/Q9C0F0" 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>
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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=80816" 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=ENSG00000141431;t=ENST00000269197" 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=ASXL3" 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=ASXL3" 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+80816" 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/ASXL3" 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:80816" 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/80816" 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=chr18&hgg_gene=ENST00000269197.12&hgg_start=33578219&hgg_end=33751195&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>
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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:29357" 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:29357" 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=615115[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=615115[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/ASXL3/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/ENSG00000141431" 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=ASXL3" 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=ASXL3" 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=ASXL3" 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=ASXL3&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/PA162377010" 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:29357" 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/FBgn0261823.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:2685175" 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/ASXL3#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:2685175" 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/80816/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=80816" 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>
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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:80816" 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=ASXL3&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 773400009<br />
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">ICD+</a>
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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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615115
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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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ASXL TRANSCRIPTIONAL REGULATOR 3; ASXL3
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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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ADDITIONAL SEX COMBS-LIKE 3<br />
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KIAA1713
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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">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ASXL3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ASXL3</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/18/128?start=-3&limit=10&highlight=128">18q12.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:33578219-33751195&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'})">18:33,578,219-33,751,195</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/18/128?start=-3&limit=10&highlight=128">
|
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18q12.1
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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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Bainbridge-Ropers syndrome
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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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<a href="/entry/615485"> 615485 </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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<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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<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">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/615115" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/615115" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p>Drosophila Asx is a polycomb group protein involved in larval patterning and development. ASXL3 belongs to a group of vertebrate Asx-like proteins predicted to function as transcriptional regulators (<a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL3 gene in silico.</strong> Int. J. Oncol. 24: 1617-1622, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138607</a>]" pmid="15138607">Katoh and Katoh, 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15138607" 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 from a size-fractionated fetal brain cDNA library, <a href="#4" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Hattori, A., Kondo, Y., Okumura, K., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes, XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 347-355, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214970</a>] [<a href="https://doi.org/10.1093/dnares/7.6.347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11214970">Nagase et al. (2000)</a> obtained a partial ASXL3 clone, which they designated KIAA1713. RT-PCR ELISA detected moderate ASXL3 expression in adult ovary and adult and fetal brain. Lower expression was detected in adult kidney and testis, followed by adult liver and pancreas. Little to no expression was detected in other whole tissues examined. Low to moderate ASXL3 expression was detected in all specific adult brain regions examined and spinal cord. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214970" 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 in silico analysis using ASXL2 (<a href="/entry/612991">612991</a>) as query, <a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL3 gene in silico.</strong> Int. J. Oncol. 24: 1617-1622, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138607</a>]" pmid="15138607">Katoh and Katoh (2004)</a> identified full-length human ASXL3. Like other ASX family members, the deduced 2,248-amino acid ASXL3 protein has 2 conserved domains near its N terminus, designated the ASXN and ASXM domains, and a conserved zinc finger plant homeodomain (PHD) at its C terminus. Unlike other ASX proteins, the PHD domain of ASXL3 is preceded by a unique proline-rich region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15138607" 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><a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL3 gene in silico.</strong> Int. J. Oncol. 24: 1617-1622, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138607</a>]" pmid="15138607">Katoh and Katoh (2004)</a> determined that the ASXL3 gene contains 12 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15138607" 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 genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL3 gene in silico.</strong> Int. J. Oncol. 24: 1617-1622, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138607</a>]" pmid="15138607">Katoh and Katoh (2004)</a> mapped the ASXL3 gene to chromosome 18q12.1, close to the DTNA gene (<a href="/entry/601239">601239</a>). <a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL3 gene in silico.</strong> Int. J. Oncol. 24: 1617-1622, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138607</a>]" pmid="15138607">Katoh and Katoh (2004)</a> noted that the ASXL3-DTNA locus is paralogous to the ASXL2-DTNB (<a href="/entry/602415">602415</a>) locus on chromosome 2p23.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15138607" 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><a href="#5" class="mim-tip-reference" title="Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. <strong>De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.</strong> Hum. Molec. Genet. 25: 597-608, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647312</a>] [<a href="https://doi.org/10.1093/hmg/ddv499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647312">Srivastava et al. (2016)</a> showed that ASXL1 interacts with BAP1 (<a href="/entry/603089">603089</a>), forming a key component of the polycomb repressive deubiquitination (PR-DUB) complex, which functions to remove the monoubiquitin from lysine-119 of histone H2A (H2AK119Ub1), thus playing a role in chromatin remodeling and transcriptional regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647312" 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><a href="#1" class="mim-tip-reference" title="Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. <strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong> Genome Med. 5: 11, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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/gm415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23383720">Bainbridge et al. (2013)</a> identified heterozygous nonsense and frameshift mutations in 4 unrelated patients with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>). All of these mutations occurred de novo in the penultimate exon, in a region analogous to that in ASXL1 (<a href="/entry/612990">612990</a>) where mutations resulting in Bohring-Opitz syndrome (BOPS; <a href="/entry/605039">605039</a>) occur. <a href="#1" class="mim-tip-reference" title="Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. <strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong> Genome Med. 5: 11, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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/gm415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23383720">Bainbridge et al. (2013)</a> reported that database searches revealed truncating mutations in both ASXL1 and ASXL3 5-prime and 3-prime of disease-causing mutations in reportedly phenotypically normal individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23383720" 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 BRPS, <a href="#5" class="mim-tip-reference" title="Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. <strong>De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.</strong> Hum. Molec. Genet. 25: 597-608, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647312</a>] [<a href="https://doi.org/10.1093/hmg/ddv499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647312">Srivastava et al. (2016)</a> identified 3 de novo heterozygous frameshift or nonsense mutations in the ASXL1 gene (<a href="#0005">615115.0005</a>-<a href="#0007">615115.0007</a>). Fibroblasts derived from 1 of the patients with a frameshift mutation in the 5-prime cluster region (c.1448dupT; <a href="#0005">615115.0005</a>) showed about a 50% decrease in ASXL1 mRNA and protein levels, consistent with haploinsufficiency. These cells showed significantly increased levels of H2AK119Ub1, indicating that this mutation disrupts the normal activity of the PR-DUB complex. Levels of H3K27me3 were normal. Transcriptome analysis of these cells showed dysregulation of many genes, including those involved in transcriptional regulation, development, and proliferation, as well as in digestive tract development. These findings highlighted a role for dynamic regulation of H2A ubiquitination in development and disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647312" 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 12 unrelated patients with BRPS, <a href="#2" class="mim-tip-reference" title="Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. <strong>Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.</strong> J. Med. Genet. 54: 537-543, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28100473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28100473</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28100473">Balasubramanian et al. (2017)</a> identified 12 different de novo heterozygous nonsense or frameshift mutations in the ASXL3 gene (see, e.g., <a href="#0006">615115.0006</a> and <a href="#0008">615115.0008</a>). The patients were ascertained from the Deciphering Developmental Disorders (DDD) project, and the mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed, but all were predicted to result in a loss of function. The authors noted that the mutations reported by <a href="#1" class="mim-tip-reference" title="Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. <strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong> Genome Med. 5: 11, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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/gm415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23383720">Bainbridge et al. (2013)</a> clustered mainly within the 5-prime end of exon 11 between codons 404 and 659. This region lies between the N-terminal protein scaffolding functional domains of the gene and the C-terminal chromatin/DNA-targeting functional domain. Among their cohort, <a href="#2" class="mim-tip-reference" title="Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. <strong>Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.</strong> J. Med. Genet. 54: 537-543, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28100473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28100473</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28100473">Balasubramanian et al. (2017)</a> noted that 5 of the identified mutations occurred within the original cluster region, whereas 7 occurred 3-prime to this region, suggesting a second cluster region between codons 1045 and 1444. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28100473+23383720" 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">rs587777061 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777061;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=rs587777061" 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=rs587777061" 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=RCV000059321 OR RCV001854240" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000059321, RCV001854240" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000059321...</a>
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<p>In a child with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#1" class="mim-tip-reference" title="Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. <strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong> Genome Med. 5: 11, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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/gm415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23383720">Bainbridge et al. (2013)</a> identified a de novo heterozygous C-to-T transition in the ASXL3 gene that resulted in substitution of a termination codon for glutamine at codon 404 (g.31318578C-T, Q404X). The child had been born small for gestational age at term, developed severe feeding difficulty, had psychomotor delay, and died at the age of 9 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23383720" 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">rs587777062 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777062;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=rs587777062" 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=rs587777062" 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=RCV000059322" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000059322" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000059322</a>
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<p>In a child with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#1" class="mim-tip-reference" title="Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. <strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong> Genome Med. 5: 11, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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/gm415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23383720">Bainbridge et al. (2013)</a> identified a de novo heterozygous C-to-T transition in the ASXL3 gene that resulted in substitution of a termination codon for glutamine at codon 466 (g.31318764C-T, Q466X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23383720" 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">rs1555742500 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555742500;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=rs1555742500" 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=rs1555742500" 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=RCV000059323 OR RCV000509280 OR RCV000624407" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000059323, RCV000509280, RCV000624407" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000059323...</a>
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<p>In a child with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#1" class="mim-tip-reference" title="Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. <strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong> Genome Med. 5: 11, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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/gm415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23383720">Bainbridge et al. (2013)</a> identified a de novo heterozygous 4-bp deletion in the ASXL3 gene resulting in frameshift and premature termination (g.31319343_31319346delACAG, Thr659FsTer41). This patient had mild global hypotonia, normal growth, and global developmental delay with intellectual disability and no speech. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23383720" 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 BAINBRIDGE-ROPERS SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555742148 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555742148;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=rs1555742148" 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=rs1555742148" 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=RCV000059324" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000059324" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000059324</a>
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#1" class="mim-tip-reference" title="Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. <strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong> Genome Med. 5: 11, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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/gm415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23383720">Bainbridge et al. (2013)</a> identified a de novo heterozygous single-basepair insertion (T) in the ASXL3 gene that resulted in immediate premature termination (g.31318789_insT, Pro474FsTer0). Brain imaging revealed global mild white matter volume loss with normal myelination, secondary brainstem hypoplasia, and bilateral hypoplasia/dysplasia of cerebellar tonsils. Magnetic resonance spectroscopy was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23383720" 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">rs1555742167 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555742167;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=rs1555742167" 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=rs1555742167" 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=RCV000624923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000624923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000624923</a>
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#5" class="mim-tip-reference" title="Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. <strong>De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.</strong> Hum. Molec. Genet. 25: 597-608, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647312</a>] [<a href="https://doi.org/10.1093/hmg/ddv499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647312">Srivastava et al. (2016)</a> identified a de novo heterozygous 1-bp duplication (c.1448dupT) in exon 11 of the ASXL3 gene, predicted to result in a frameshift and premature termination (Thr484AsnfsTer5). The mutation occurred within the 5-prime cluster region. Studies of patient fibroblasts showed that the mutation resulted in nonsense-mediated mRNA decay with only 50% expression of normal protein levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647312" 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>.0006 BAINBRIDGE-ROPERS SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555744282 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555744282;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=rs1555744282" 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=rs1555744282" 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=RCV000624295 OR RCV000624922 OR RCV001249488 OR RCV001568093" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000624295, RCV000624922, RCV001249488, RCV001568093" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000624295...</a>
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#5" class="mim-tip-reference" title="Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. <strong>De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.</strong> Hum. Molec. Genet. 25: 597-608, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647312</a>] [<a href="https://doi.org/10.1093/hmg/ddv499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647312">Srivastava et al. (2016)</a> identified an apparently de novo heterozygous c.4330T-C transition in the ASXL3 gene, resulting in an arg1444-to-ter (R1444X) substitution at the 5-prime end of exon 12. The mutation was found by exome sequencing. The patient's mother did not have the mutation, but the father was unavailable for study. Functional studies of the variant and studies of patient cells were not performed, but the authors noted that this mutation occurs 3-prime to the main cluster region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647312" 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="#2" class="mim-tip-reference" title="Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. <strong>Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.</strong> J. Med. Genet. 54: 537-543, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28100473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28100473</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28100473">Balasubramanian et al. (2017)</a> identified a de novo R1444X mutation in a patient with BRPS and suggested that it may be a recurrent mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28100473" 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">rs1064793765 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1064793765;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=rs1064793765" 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=rs1064793765" 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=RCV000484332 OR RCV000624921" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000484332, RCV000624921" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000484332...</a>
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#5" class="mim-tip-reference" title="Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. <strong>De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.</strong> Hum. Molec. Genet. 25: 597-608, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647312</a>] [<a href="https://doi.org/10.1093/hmg/ddv499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26647312">Srivastava et al. (2016)</a> identified a de novo heterozygous c.3364C-T transition in the ASXL3 gene, resulting in a gln1122-to-ter (Q1122X) substitution at the 5-prime end of exon 12. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the authors noted that this mutation occurs 3-prime to the main cluster region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647312" 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>.0008 BAINBRIDGE-ROPERS SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555744086 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555744086;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=rs1555744086" 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=rs1555744086" 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=RCV000624924 OR RCV001269691" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000624924, RCV001269691" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000624924...</a>
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; <a href="/entry/615485">615485</a>), <a href="#2" class="mim-tip-reference" title="Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. <strong>Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.</strong> J. Med. Genet. 54: 537-543, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28100473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28100473</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28100473">Balasubramanian et al. (2017)</a> identified a de novo heterozygous c.4144C-T transition in the ASXL3 gene, resulting in a gln1382-to-ter (Q1382X) substitution within the 3-prime cluster region. The mutation was found by exome sequencing and confirmed by Sanger 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=28100473" 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="Bainbridge2013" class="mim-anchor"></a>
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Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H.
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<strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong>
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Genome Med. 5: 11, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23383720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23383720</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23383720[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=23383720" 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/gm415" target="_blank">Full Text</a>]
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Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study.
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<strong>Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.</strong>
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J. Med. Genet. 54: 537-543, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28100473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28100473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28100473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Katoh, M., Katoh, M.
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<strong>Identification and characterization of ASXL3 gene in silico.</strong>
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Int. J. Oncol. 24: 1617-1622, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15138607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15138607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15138607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nagase, T., Kikuno, R., Hattori, A., Kondo, Y., Okumura, K., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes, XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 347-355, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L.
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<strong>De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.</strong>
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Hum. Molec. Genet. 25: 597-608, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26647312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26647312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26647312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 04/11/2018
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Ada Hamosh - updated : 10/18/2013
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Patricia A. Hartz : 3/7/2013
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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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<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 : 01/08/2020
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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 : 04/16/2018<br>carol : 04/12/2018<br>ckniffin : 04/11/2018<br>alopez : 10/18/2013<br>mgross : 3/7/2013
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 615115
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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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ASXL TRANSCRIPTIONAL REGULATOR 3; ASXL3
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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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<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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ADDITIONAL SEX COMBS-LIKE 3<br />
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KIAA1713
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</span>
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</h4>
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</div>
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<div>
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<br />
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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: ASXL3</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>SNOMEDCT:</strong> 773400009;
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</span>
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</p>
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<br />
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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: 18q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:33,578,219-33,751,195 </span>
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</em>
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</strong>
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<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>
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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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18q12.1
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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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Bainbridge-Ropers syndrome
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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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615485
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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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Autosomal dominant
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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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3
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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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<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>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">
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<strong>Description</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>Drosophila Asx is a polycomb group protein involved in larval patterning and development. ASXL3 belongs to a group of vertebrate Asx-like proteins predicted to function as transcriptional regulators (Katoh and Katoh, 2004). </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>Cloning and Expression</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 sequencing clones from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) obtained a partial ASXL3 clone, which they designated KIAA1713. RT-PCR ELISA detected moderate ASXL3 expression in adult ovary and adult and fetal brain. Lower expression was detected in adult kidney and testis, followed by adult liver and pancreas. Little to no expression was detected in other whole tissues examined. Low to moderate ASXL3 expression was detected in all specific adult brain regions examined and spinal cord. </p><p>By in silico analysis using ASXL2 (612991) as query, Katoh and Katoh (2004) identified full-length human ASXL3. Like other ASX family members, the deduced 2,248-amino acid ASXL3 protein has 2 conserved domains near its N terminus, designated the ASXN and ASXM domains, and a conserved zinc finger plant homeodomain (PHD) at its C terminus. Unlike other ASX proteins, the PHD domain of ASXL3 is preceded by a unique proline-rich region. </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 Structure</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>Katoh and Katoh (2004) determined that the ASXL3 gene contains 12 exons. </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>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 genomic sequence analysis, Katoh and Katoh (2004) mapped the ASXL3 gene to chromosome 18q12.1, close to the DTNA gene (601239). Katoh and Katoh (2004) noted that the ASXL3-DTNA locus is paralogous to the ASXL2-DTNB (602415) locus on chromosome 2p23.3. </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>Srivastava et al. (2016) showed that ASXL1 interacts with BAP1 (603089), forming a key component of the polycomb repressive deubiquitination (PR-DUB) complex, which functions to remove the monoubiquitin from lysine-119 of histone H2A (H2AK119Ub1), thus playing a role in chromatin remodeling and transcriptional regulation. </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>Bainbridge et al. (2013) identified heterozygous nonsense and frameshift mutations in 4 unrelated patients with Bainbridge-Ropers syndrome (BRPS; 615485). All of these mutations occurred de novo in the penultimate exon, in a region analogous to that in ASXL1 (612990) where mutations resulting in Bohring-Opitz syndrome (BOPS; 605039) occur. Bainbridge et al. (2013) reported that database searches revealed truncating mutations in both ASXL1 and ASXL3 5-prime and 3-prime of disease-causing mutations in reportedly phenotypically normal individuals. </p><p>In 3 unrelated patients with BRPS, Srivastava et al. (2016) identified 3 de novo heterozygous frameshift or nonsense mutations in the ASXL1 gene (615115.0005-615115.0007). Fibroblasts derived from 1 of the patients with a frameshift mutation in the 5-prime cluster region (c.1448dupT; 615115.0005) showed about a 50% decrease in ASXL1 mRNA and protein levels, consistent with haploinsufficiency. These cells showed significantly increased levels of H2AK119Ub1, indicating that this mutation disrupts the normal activity of the PR-DUB complex. Levels of H3K27me3 were normal. Transcriptome analysis of these cells showed dysregulation of many genes, including those involved in transcriptional regulation, development, and proliferation, as well as in digestive tract development. These findings highlighted a role for dynamic regulation of H2A ubiquitination in development and disease. </p><p>In 12 unrelated patients with BRPS, Balasubramanian et al. (2017) identified 12 different de novo heterozygous nonsense or frameshift mutations in the ASXL3 gene (see, e.g., 615115.0006 and 615115.0008). The patients were ascertained from the Deciphering Developmental Disorders (DDD) project, and the mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed, but all were predicted to result in a loss of function. The authors noted that the mutations reported by Bainbridge et al. (2013) clustered mainly within the 5-prime end of exon 11 between codons 404 and 659. This region lies between the N-terminal protein scaffolding functional domains of the gene and the C-terminal chromatin/DNA-targeting functional domain. Among their cohort, Balasubramanian et al. (2017) noted that 5 of the identified mutations occurred within the original cluster region, whereas 7 occurred 3-prime to this region, suggesting a second cluster region between codons 1045 and 1444. </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">
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</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">
|
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<strong>.0001 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, GLN404TER
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<br />
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SNP: rs587777061,
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ClinVar: RCV000059321, RCV001854240
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a child with Bainbridge-Ropers syndrome (BRPS; 615485), Bainbridge et al. (2013) identified a de novo heterozygous C-to-T transition in the ASXL3 gene that resulted in substitution of a termination codon for glutamine at codon 404 (g.31318578C-T, Q404X). The child had been born small for gestational age at term, developed severe feeding difficulty, had psychomotor delay, and died at the age of 9 months. </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>
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<span class="mim-font">
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<strong>.0002 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, GLN466TER
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<br />
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SNP: rs587777062,
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ClinVar: RCV000059322
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a child with Bainbridge-Ropers syndrome (BRPS; 615485), Bainbridge et al. (2013) identified a de novo heterozygous C-to-T transition in the ASXL3 gene that resulted in substitution of a termination codon for glutamine at codon 466 (g.31318764C-T, Q466X). </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>
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<span class="mim-font">
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<strong>.0003 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, 4-BP DEL
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<br />
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SNP: rs1555742500,
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ClinVar: RCV000059323, RCV000509280, RCV000624407
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a child with Bainbridge-Ropers syndrome (BRPS; 615485), Bainbridge et al. (2013) identified a de novo heterozygous 4-bp deletion in the ASXL3 gene resulting in frameshift and premature termination (g.31319343_31319346delACAG, Thr659FsTer41). This patient had mild global hypotonia, normal growth, and global developmental delay with intellectual disability and no speech. </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>
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<span class="mim-font">
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<strong>.0004 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, 1-BP INS
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<br />
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SNP: rs1555742148,
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ClinVar: RCV000059324
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; 615485), Bainbridge et al. (2013) identified a de novo heterozygous single-basepair insertion (T) in the ASXL3 gene that resulted in immediate premature termination (g.31318789_insT, Pro474FsTer0). Brain imaging revealed global mild white matter volume loss with normal myelination, secondary brainstem hypoplasia, and bilateral hypoplasia/dysplasia of cerebellar tonsils. Magnetic resonance spectroscopy was normal. </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>
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<span class="mim-font">
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<strong>.0005 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, 1-BP DUP, 1448T
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<br />
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SNP: rs1555742167,
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ClinVar: RCV000624923
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; 615485), Srivastava et al. (2016) identified a de novo heterozygous 1-bp duplication (c.1448dupT) in exon 11 of the ASXL3 gene, predicted to result in a frameshift and premature termination (Thr484AsnfsTer5). The mutation occurred within the 5-prime cluster region. Studies of patient fibroblasts showed that the mutation resulted in nonsense-mediated mRNA decay with only 50% expression of normal protein levels. </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>
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<span class="mim-font">
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<strong>.0006 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, ARG1444TER
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<br />
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SNP: rs1555744282,
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ClinVar: RCV000624295, RCV000624922, RCV001249488, RCV001568093
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; 615485), Srivastava et al. (2016) identified an apparently de novo heterozygous c.4330T-C transition in the ASXL3 gene, resulting in an arg1444-to-ter (R1444X) substitution at the 5-prime end of exon 12. The mutation was found by exome sequencing. The patient's mother did not have the mutation, but the father was unavailable for study. Functional studies of the variant and studies of patient cells were not performed, but the authors noted that this mutation occurs 3-prime to the main cluster region. </p><p>Balasubramanian et al. (2017) identified a de novo R1444X mutation in a patient with BRPS and suggested that it may be a recurrent mutation. </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>
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<span class="mim-font">
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<strong>.0007 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, GLN1122TER
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<br />
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SNP: rs1064793765,
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ClinVar: RCV000484332, RCV000624921
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; 615485), Srivastava et al. (2016) identified a de novo heterozygous c.3364C-T transition in the ASXL3 gene, resulting in a gln1122-to-ter (Q1122X) substitution at the 5-prime end of exon 12. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but the authors noted that this mutation occurs 3-prime to the main cluster region. </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>
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<span class="mim-font">
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<strong>.0008 BAINBRIDGE-ROPERS SYNDROME</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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ASXL3, GLN1382TER
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<br />
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SNP: rs1555744086,
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ClinVar: RCV000624924, RCV001269691
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Bainbridge-Ropers syndrome (BRPS; 615485), Balasubramanian et al. (2017) identified a de novo heterozygous c.4144C-T transition in the ASXL3 gene, resulting in a gln1382-to-ter (Q1382X) substitution within the 3-prime cluster region. The mutation was found by exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed. </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>
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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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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H.
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|
<strong>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.</strong>
|
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Genome Med. 5: 11, 2013. Note: Electronic Article.
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[PubMed: 23383720]
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[Full Text: https://doi.org/10.1186/gm415]
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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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Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study.
|
|
<strong>Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.</strong>
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J. Med. Genet. 54: 537-543, 2017.
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[PubMed: 28100473]
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[Full Text: https://doi.org/10.1136/jmedgenet-2016-104360]
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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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Katoh, M., Katoh, M.
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<strong>Identification and characterization of ASXL3 gene in silico.</strong>
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Int. J. Oncol. 24: 1617-1622, 2004.
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[PubMed: 15138607]
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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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Nagase, T., Kikuno, R., Hattori, A., Kondo, Y., Okumura, K., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes, XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 347-355, 2000.
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[PubMed: 11214970]
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[Full Text: https://doi.org/10.1093/dnares/7.6.347]
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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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Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L.
|
|
<strong>De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.</strong>
|
|
Hum. Molec. Genet. 25: 597-608, 2016.
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[PubMed: 26647312]
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[Full Text: https://doi.org/10.1093/hmg/ddv499]
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</p>
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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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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Cassandra L. Kniffin - updated : 04/11/2018<br>Ada Hamosh - updated : 10/18/2013
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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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<br />
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Creation Date:
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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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Patricia A. Hartz : 3/7/2013
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</span>
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<br />
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carol : 01/08/2020<br>carol : 04/16/2018<br>carol : 04/12/2018<br>ckniffin : 04/11/2018<br>alopez : 10/18/2013<br>mgross : 3/7/2013
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