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Entry
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- *611720 - INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN LIKE; IRF2BPL
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- OMIM
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<p>
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<span class="h4">*611720</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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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<a href="#animalModel">Animal Model</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/611720">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<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=ENSG00000119669;t=ENST00000238647" 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=64207" 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=611720" 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="mimDna">
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<span class="panel-title">
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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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</span>
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</span>
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</div>
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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=ENSG00000119669;t=ENST00000238647" 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_024496" 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_024496" 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=611720" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=10713&isoform_id=10713_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/IRF2BPL" 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/10636484,12002026,14017947,21732872,33457336,34395562,2315201260" 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/Q9H1B7" 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=64207" 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=ENSG00000119669;t=ENST00000238647" 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=IRF2BPL" 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=IRF2BPL" 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+64207" 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/IRF2BPL" 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:64207" 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/64207" 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=chr14&hgg_gene=ENST00000238647.5&hgg_start=77024543&hgg_end=77028708&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/genes/HGNC:14282" 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=611720[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 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=611720[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/IRF2BPL/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/ENSG00000119669" 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.gwascentral.org/search?q=IRF2BPL" 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=IRF2BPL" 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=IRF2BPL&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/PA25516" 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:14282" 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/FBgn0030400.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:2442463" 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/IRF2BPL#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:2442463" 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/64207/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=64207" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00010867;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1968" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=IRF2BPL&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611720
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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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INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN LIKE; IRF2BPL
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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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CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4<br />
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ENHANCED AT PUBERTY 1; EAP1
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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=IRF2BPL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IRF2BPL</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/14/410?start=-3&limit=10&highlight=410">14q24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:77024543-77028708&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'})">14:77,024,543-77,028,708</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/14/410?start=-3&limit=10&highlight=410">
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14q24.3
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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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Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
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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/618088"> 618088 </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/611720" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/611720" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<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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<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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The IRF2BPL gene encodes a protein that is expressed in many organs, including the central nervous system. Evidence suggests that it acts as a transcriptional activator and may also function as an E3 ubiquitin ligase (summary by <a href="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" 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 positional cloning and database analysis, <a href="#4" class="mim-tip-reference" title="Rampazzo, A., Pivotto, F., Occhi, G., Tiso, N., Bortoluzzi, S., Rowen, L., Hood, L., Nava, A., Danieli, G. A. <strong>Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.</strong> Biochem. Biophys. Res. Commun. 278: 766-774, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095982</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3883" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11095982">Rampazzo et al. (2000)</a> identified C14ORF4. The deduced 796-amino acid protein has a calculated molecular mass of 82.7 kD. It is proline-rich and contains N-terminal polyglutamine and polyalanine tracts, a C-terminal C3HC4-type ring finger domain, and 2 putative transmembrane domains. It also has a potential nuclear targeting signal, an endoplasmic reticulum retention signal, 3 possible PEST sequences, and putative sites for phosphorylation, N-glycosylation, and amidation. The size of the polyglutamine tract varied from 20 to 31 CAG repeats in 50 unrelated normal Italian individuals examined. RT-PCR analysis of human tissues detected strong expression in heart, moderate expression in skeletal muscle and pancreas, and weak expression in brain, kidney, liver, testis, thyroid, and lymphocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11095982" 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="#4" class="mim-tip-reference" title="Rampazzo, A., Pivotto, F., Occhi, G., Tiso, N., Bortoluzzi, S., Rowen, L., Hood, L., Nava, A., Danieli, G. A. <strong>Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.</strong> Biochem. Biophys. Res. Commun. 278: 766-774, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095982</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3883" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11095982">Rampazzo et al. (2000)</a> determined that the C14ORF4 gene is intronless. The 5-prime flanking region contains no TATA or CAATT boxes, but it is high in GC content and includes 2 SP1 (<a href="/entry/189906">189906</a>)-binding sites. The 3-prime end contains 2 polyadenylation signals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11095982" 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 and radiation hybrid mapping, <a href="#4" class="mim-tip-reference" title="Rampazzo, A., Pivotto, F., Occhi, G., Tiso, N., Bortoluzzi, S., Rowen, L., Hood, L., Nava, A., Danieli, G. A. <strong>Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.</strong> Biochem. Biophys. Res. Commun. 278: 766-774, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095982</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3883" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11095982">Rampazzo et al. (2000)</a> mapped the C14ORF4 gene to chromosome 14q24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11095982" 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>Using DNA microarrays, <a href="#1" class="mim-tip-reference" title="Heger, S., Mastronardi, C., Dissen, G. A., Lomniczi, A., Cabrera, R., Roth, C. L., Jung, H., Galimi, F., Sippell, W., Ojeda, S. R. <strong>Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.</strong> J. Clin. Invest. 117: 2145-2154, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17627301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17627301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17627301[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/10.1172/JCI31752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17627301">Heger et al. (2007)</a> found that expression of C14orf4, which they termed Eap1, increased in the medial basal hypothalamus, but not cerebral cortex, of female rhesus monkeys at early puberty and increased further at midpuberty. Female mice underwent a similar increase of Eap1 expression in hypothalamus, but not cortex, during puberty. In situ hybridization showed that Eap1 mRNA was abundant in cells of hypothalamic nuclei involved in Gnrh (<a href="/entry/152760">152760</a>) secretion, such as the arcuate nucleus. Immunohistochemical analysis localized Eap1 to cell nuclei. Inhibition of Eap1 by RNAi targeted to the preoptic area of female rats disrupted the estrous cycle and reduced plasma gonadotropin levels, suggesting altered Gnrh release. These abnormalities were accompanied by stunted antral follicular development and formation of ovarian cysts. <a href="#1" class="mim-tip-reference" title="Heger, S., Mastronardi, C., Dissen, G. A., Lomniczi, A., Cabrera, R., Roth, C. L., Jung, H., Galimi, F., Sippell, W., Ojeda, S. R. <strong>Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.</strong> J. Clin. Invest. 117: 2145-2154, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17627301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17627301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17627301[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/10.1172/JCI31752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17627301">Heger et al. (2007)</a> noted that EAP1 is located in a region of chromosome 14 affected by maternal uniparental disomy 14 (<a href="/entry/608149">608149</a>), and they proposed that EAP1 may be 1 of the genes affected in this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17627301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using immunoprecipitation mass spectrometry analysis, <a href="#6" class="mim-tip-reference" title="Yokoyama, A., Kouketsu, T., Otsubo, Y., Noro, E., Sawatsubashi, S., Shima, I., Satoh, I., Kawamura, S., Suzuki, T., Igarashi, K., Sugawara, A. <strong>Identification and functional characterization of a novel androgen receptor coregulator, EAP1.</strong> J. Endocr. Soc. 5: bvab150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34585037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34585037</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34585037[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/10.1210/jendso/bvab150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34585037">Yokoyama et al. (2021)</a> identified EAP1 as a coregulator associated with androgen receptor (AR; <a href="/entry/313700">313700</a>) in LNCaP human prostate cancer cells. Immunofluorescence analysis revealed colocalization of EAP1 with AR in the nucleus of LNCaP cells. EAP1 functioned as an E3 ubiquitin ligase for AR and HDAC1 (<a href="/entry/601241">601241</a>), suggesting that EAP1 enhances AR transcriptional activity by regulating AR-HDAC1 complex levels via ubiquitin-proteasome pathways. Immunohistochemical analysis in human prostate tumor tissue showed overexpression of EAP1 that correlated with poor outcome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34585037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 7 unrelated patients with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al. (2018)</a> identified heterozygous mutations in the IRF2BPL gene (see, e.g., <a href="#0001">611720.0001</a>-<a href="#0005">611720.0005</a>). The mutations were found by exome sequencing and confirmed by Sanger sequencing. The mutations occurred de novo in all patients from whom parental DNA was available for analysis. Five patients carried nonsense mutations, whereas 2 patients with a slightly less severe phenotype carried missense mutations. Overexpression of nonsense mutations in Drosophila failed to induce lethality, as was observed with overexpression of the wildtype gene, suggesting that the nonsense mutations resulted in a loss of function. Expression of the K418N mutation (<a href="#0005">611720.0005</a>) resulted in lethality at higher temperatures, suggesting that it causes a partial loss of function, whereas expression of the P372R variant (<a href="#0004">611720.0004</a>) resulted in lethality, similar to wildtype. Partial knockdown of the pits gene in Drosophila using RNAi resulted in progressive neurologic motor and learning dysfunction, and specific knockdown of the gene in photoreceptors of the eye caused progressive abnormalities. Complete disruption of the pits gene was toxic to the fly, resulting in lethality, as was overexpression of both pits and IRF2BPL. The findings suggested that the IRF2BPL gene is involved in both neurologic development and neuronal maintenance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using exome sequencing, <a href="#5" class="mim-tip-reference" title="Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., and 26 others. <strong>De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.</strong> Genet. Med. 21: 1008-1014, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30166628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30166628</a>] [<a href="https://doi.org/10.1038/s41436-018-0143-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30166628">Tran Mau-Them et al. (2019)</a> identified different de novo heterozygous nonsense or frameshift mutations in the IRF2BPL gene (see, e.g., <a href="#0006">611720.0006</a> and <a href="#0007">611720.0007</a>) in 11 unrelated patients with NEDAMSS. All of the mutations were absent from the gnomAD database and were expected to encode a protein lacking the C-terminal RING-finger domain. RNA analyses on patient-derived fibroblasts were consistent with nonsense-mediated decay escape, suggesting that the shortened proteins might be translated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30166628" 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="#2" class="mim-tip-reference" title="Li, C., Li, P. <strong>Enhanced at puberty-1 (Eap1) expression critically regulates the onset of puberty independent of hypothalamic Kiss1 expression.</strong> Cell. Physiol. Biochem. 43: 1402-1412, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29017168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29017168</a>] [<a href="https://doi.org/10.1159/000481872" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29017168">Li and Li (2017)</a> found that suppression of Eap1 in rat hypothalamus via intracerebroventricular injection delayed vaginal opening and perturbed ovary development. Further analysis showed that Eap1 regulated puberty in rats through Gnrh (GNRH1; <a href="/entry/152760">152760</a>), without affecting the Gnrh secretion regulator Kiss1 (<a href="/entry/603286">603286</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29017168" 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="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al. (2018)</a> found that the closest ortholog to the IRF2BPL gene in Drosophila, called 'pits,' was broadly detected, including in the nervous system. Expression was detected in various regions of the brain, including in the mushroom body and in the nuclei, cell bodies, and axons of neurons. Disruption of the pits gene was toxic to the fly, resulting in lethality, as was overexpression of both pits and IRF2BPL. The pits gene is located on the X chromosome in Drosophila. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/611720" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611720[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</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"><span class="text-primary">●</span> rs1345176461 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1345176461;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1345176461?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1345176461" 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=rs1345176461" 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=RCV000677385 OR RCV000708589 OR RCV001267224 OR RCV001816684" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677385, RCV000708589, RCV001267224, RCV001816684" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677385...</a>
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<p>In 2 unrelated patients (patients 2 and 3) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al. (2018)</a> identified a heterozygous c.562C-T transition (c.562C-T, NM_024496.3) in the IRF2BPL gene, resulting in an arg188-to-ter (R188X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. The mutation was confirmed to occur de novo in 1 patient; parental DNA was not available for the other patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" 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>.0002 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</strong>
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IRF2BPL, GLN127TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1292724234 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1292724234;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1292724234?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1292724234" 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=rs1292724234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000677386" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677386" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677386</a>
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<p>In a 16-year-old girl (patient 4) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al. (2018)</a> identified a de novo heterozygous c.379C-T transition (c.379C-T, NM_024496.3) in the IRF2BPL gene, resulting in a gln127-to-ter (Q127X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" 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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<span class="mim-font">
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<strong>.0003 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</strong>
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IRF2BPL, GLN126TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555377483 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555377483;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=rs1555377483" 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=rs1555377483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000677387 OR RCV001579892" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677387, RCV001579892" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677387...</a>
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<p>In a 43-year-old man (patient 5) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al. (2018)</a> identified a de novo heterozygous c.376C-T transition (c.376C-T, NM_024496.3) in the IRF2BPL gene, resulting in a gln126-to-ter (Q126X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" 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 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</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">rs1555377336 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555377336;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=rs1555377336" 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=rs1555377336" 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=RCV000677388" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677388" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677388</a>
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<p>In an 11-year-old boy (patient 6) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al. (2018)</a> identified a de novo heterozygous c.1115C-G transversion (c.1115C-G, NM_024496.3) in the IRF2BPL gene, resulting in a pro372-to-arg (P372R) substitution at a highly conserved residue. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</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"><span class="text-primary">●</span> rs201073695 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201073695;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs201073695?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs201073695" 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=rs201073695" 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=RCV000677389" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000677389" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000677389</a>
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<p>In a 2.5-year-old girl (patient 7) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#3" class="mim-tip-reference" title="Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others. <strong>IRF2BPL is associated with neurological phenotypes.</strong> Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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/10.1016/j.ajhg.2018.07.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30057031">Marcogliese et al. (2018)</a> identified a de novo heterozygous c.1254G-C transversion (c.1254G-C, NM_024496.3) in the IRF2BPL gene, resulting in a lys418-to-asn (K418N) substitution at a highly conserved residue. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30057031" 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 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</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">rs1566786207 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1566786207;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=rs1566786207" 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=rs1566786207" 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=RCV000735795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000735795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000735795</a>
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<p>In a 10.5-year-old girl (patient 7) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#5" class="mim-tip-reference" title="Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., and 26 others. <strong>De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.</strong> Genet. Med. 21: 1008-1014, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30166628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30166628</a>] [<a href="https://doi.org/10.1038/s41436-018-0143-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30166628">Tran Mau-Them et al. (2019)</a> identified a de novo heterozygous 1-bp deletion (c.962delC, NM_024496.3) in the IRF2BPL gene, resulting in a frameshift and a premature termination codon (Ala321GlufsTer24). The mutation was found by exome sequencing and was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30166628" 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>.0007 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000735796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000735796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000735796</a>
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<p>In a 5-year-old boy (patient 9) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; <a href="/entry/618088">618088</a>), <a href="#5" class="mim-tip-reference" title="Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., and 26 others. <strong>De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.</strong> Genet. Med. 21: 1008-1014, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30166628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30166628</a>] [<a href="https://doi.org/10.1038/s41436-018-0143-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30166628">Tran Mau-Them et al. (2019)</a> identified a de novo heterozygous 2-bp deletion (c.2135_2136delGT) in the IRF2BPL gene, resulting in a frameshift and a premature termination codon (Leu713SerfsTer56). The mutation was found by exome sequencing and was not present in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30166628" 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="Heger2007" class="mim-anchor"></a>
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Heger, S., Mastronardi, C., Dissen, G. A., Lomniczi, A., Cabrera, R., Roth, C. L., Jung, H., Galimi, F., Sippell, W., Ojeda, S. R.
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<strong>Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.</strong>
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J. Clin. Invest. 117: 2145-2154, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17627301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17627301</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17627301[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=17627301" 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/10.1172/JCI31752" target="_blank">Full Text</a>]
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Li, C., Li, P.
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<strong>Enhanced at puberty-1 (Eap1) expression critically regulates the onset of puberty independent of hypothalamic Kiss1 expression.</strong>
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Cell. Physiol. Biochem. 43: 1402-1412, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29017168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29017168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29017168" 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/10.1159/000481872" target="_blank">Full Text</a>]
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Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others.
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<strong>IRF2BPL is associated with neurological phenotypes.</strong>
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Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30057031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30057031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30057031[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=30057031" 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/10.1016/j.ajhg.2018.07.006" target="_blank">Full Text</a>]
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Rampazzo, A., Pivotto, F., Occhi, G., Tiso, N., Bortoluzzi, S., Rowen, L., Hood, L., Nava, A., Danieli, G. A.
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<strong>Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.</strong>
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Biochem. Biophys. Res. Commun. 278: 766-774, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11095982" 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/10.1006/bbrc.2000.3883" target="_blank">Full Text</a>]
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Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., and 26 others.
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<strong>De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.</strong>
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Genet. Med. 21: 1008-1014, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30166628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30166628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30166628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41436-018-0143-0" target="_blank">Full Text</a>]
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Yokoyama, A., Kouketsu, T., Otsubo, Y., Noro, E., Sawatsubashi, S., Shima, I., Satoh, I., Kawamura, S., Suzuki, T., Igarashi, K., Sugawara, A.
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<strong>Identification and functional characterization of a novel androgen receptor coregulator, EAP1.</strong>
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J. Endocr. Soc. 5: bvab150, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34585037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34585037</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34585037[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=34585037" 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/10.1210/jendso/bvab150" target="_blank">Full Text</a>]
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Bao Lige - updated : 05/11/2022
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 12/20/2018<br>Cassandra L. Kniffin - updated : 08/14/2018
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 1/9/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/12/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
mgross : 05/11/2022<br>carol : 04/10/2019<br>carol : 12/20/2018<br>carol : 10/15/2018<br>carol : 08/17/2018<br>ckniffin : 08/14/2018<br>carol : 11/08/2017<br>wwang : 02/02/2009<br>wwang : 1/9/2008
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611720
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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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INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN LIKE; IRF2BPL
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4<br />
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ENHANCED AT PUBERTY 1; EAP1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: IRF2BPL</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 14q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:77,024,543-77,028,708 </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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14q24.3
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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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Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
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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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618088
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
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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</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>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>The IRF2BPL gene encodes a protein that is expressed in many organs, including the central nervous system. Evidence suggests that it acts as a transcriptional activator and may also function as an E3 ubiquitin ligase (summary by Marcogliese et al., 2018). </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 positional cloning and database analysis, Rampazzo et al. (2000) identified C14ORF4. The deduced 796-amino acid protein has a calculated molecular mass of 82.7 kD. It is proline-rich and contains N-terminal polyglutamine and polyalanine tracts, a C-terminal C3HC4-type ring finger domain, and 2 putative transmembrane domains. It also has a potential nuclear targeting signal, an endoplasmic reticulum retention signal, 3 possible PEST sequences, and putative sites for phosphorylation, N-glycosylation, and amidation. The size of the polyglutamine tract varied from 20 to 31 CAG repeats in 50 unrelated normal Italian individuals examined. RT-PCR analysis of human tissues detected strong expression in heart, moderate expression in skeletal muscle and pancreas, and weak expression in brain, kidney, liver, testis, thyroid, and lymphocytes. </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">
|
|
<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">
|
|
<p>Rampazzo et al. (2000) determined that the C14ORF4 gene is intronless. The 5-prime flanking region contains no TATA or CAATT boxes, but it is high in GC content and includes 2 SP1 (189906)-binding sites. The 3-prime end contains 2 polyadenylation signals. </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>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>By genomic sequence analysis and radiation hybrid mapping, Rampazzo et al. (2000) mapped the C14ORF4 gene to chromosome 14q24.3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using DNA microarrays, Heger et al. (2007) found that expression of C14orf4, which they termed Eap1, increased in the medial basal hypothalamus, but not cerebral cortex, of female rhesus monkeys at early puberty and increased further at midpuberty. Female mice underwent a similar increase of Eap1 expression in hypothalamus, but not cortex, during puberty. In situ hybridization showed that Eap1 mRNA was abundant in cells of hypothalamic nuclei involved in Gnrh (152760) secretion, such as the arcuate nucleus. Immunohistochemical analysis localized Eap1 to cell nuclei. Inhibition of Eap1 by RNAi targeted to the preoptic area of female rats disrupted the estrous cycle and reduced plasma gonadotropin levels, suggesting altered Gnrh release. These abnormalities were accompanied by stunted antral follicular development and formation of ovarian cysts. Heger et al. (2007) noted that EAP1 is located in a region of chromosome 14 affected by maternal uniparental disomy 14 (608149), and they proposed that EAP1 may be 1 of the genes affected in this syndrome. </p><p>Using immunoprecipitation mass spectrometry analysis, Yokoyama et al. (2021) identified EAP1 as a coregulator associated with androgen receptor (AR; 313700) in LNCaP human prostate cancer cells. Immunofluorescence analysis revealed colocalization of EAP1 with AR in the nucleus of LNCaP cells. EAP1 functioned as an E3 ubiquitin ligase for AR and HDAC1 (601241), suggesting that EAP1 enhances AR transcriptional activity by regulating AR-HDAC1 complex levels via ubiquitin-proteasome pathways. Immunohistochemical analysis in human prostate tumor tissue showed overexpression of EAP1 that correlated with poor outcome. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 7 unrelated patients with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Marcogliese et al. (2018) identified heterozygous mutations in the IRF2BPL gene (see, e.g., 611720.0001-611720.0005). The mutations were found by exome sequencing and confirmed by Sanger sequencing. The mutations occurred de novo in all patients from whom parental DNA was available for analysis. Five patients carried nonsense mutations, whereas 2 patients with a slightly less severe phenotype carried missense mutations. Overexpression of nonsense mutations in Drosophila failed to induce lethality, as was observed with overexpression of the wildtype gene, suggesting that the nonsense mutations resulted in a loss of function. Expression of the K418N mutation (611720.0005) resulted in lethality at higher temperatures, suggesting that it causes a partial loss of function, whereas expression of the P372R variant (611720.0004) resulted in lethality, similar to wildtype. Partial knockdown of the pits gene in Drosophila using RNAi resulted in progressive neurologic motor and learning dysfunction, and specific knockdown of the gene in photoreceptors of the eye caused progressive abnormalities. Complete disruption of the pits gene was toxic to the fly, resulting in lethality, as was overexpression of both pits and IRF2BPL. The findings suggested that the IRF2BPL gene is involved in both neurologic development and neuronal maintenance. </p><p>Using exome sequencing, Tran Mau-Them et al. (2019) identified different de novo heterozygous nonsense or frameshift mutations in the IRF2BPL gene (see, e.g., 611720.0006 and 611720.0007) in 11 unrelated patients with NEDAMSS. All of the mutations were absent from the gnomAD database and were expected to encode a protein lacking the C-terminal RING-finger domain. RNA analyses on patient-derived fibroblasts were consistent with nonsense-mediated decay escape, suggesting that the shortened proteins might be translated. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Li and Li (2017) found that suppression of Eap1 in rat hypothalamus via intracerebroventricular injection delayed vaginal opening and perturbed ovary development. Further analysis showed that Eap1 regulated puberty in rats through Gnrh (GNRH1; 152760), without affecting the Gnrh secretion regulator Kiss1 (603286). </p><p>Marcogliese et al. (2018) found that the closest ortholog to the IRF2BPL gene in Drosophila, called 'pits,' was broadly detected, including in the nervous system. Expression was detected in various regions of the brain, including in the mushroom body and in the nuclei, cell bodies, and axons of neurons. Disruption of the pits gene was toxic to the fly, resulting in lethality, as was overexpression of both pits and IRF2BPL. The pits gene is located on the X chromosome in Drosophila. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IRF2BPL, ARG188TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1345176461,
|
|
|
|
|
|
gnomAD: rs1345176461,
|
|
|
|
|
|
ClinVar: RCV000677385, RCV000708589, RCV001267224, RCV001816684
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients (patients 2 and 3) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Marcogliese et al. (2018) identified a heterozygous c.562C-T transition (c.562C-T, NM_024496.3) in the IRF2BPL gene, resulting in an arg188-to-ter (R188X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. The mutation was confirmed to occur de novo in 1 patient; parental DNA was not available for the other patient. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
IRF2BPL, GLN127TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1292724234,
|
|
|
|
|
|
gnomAD: rs1292724234,
|
|
|
|
|
|
ClinVar: RCV000677386
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 16-year-old girl (patient 4) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Marcogliese et al. (2018) identified a de novo heterozygous c.379C-T transition (c.379C-T, NM_024496.3) in the IRF2BPL gene, resulting in a gln127-to-ter (Q127X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
IRF2BPL, GLN126TER
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|
|
|
|
<br />
|
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|
|
SNP: rs1555377483,
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|
|
|
|
|
ClinVar: RCV000677387, RCV001579892
|
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|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 43-year-old man (patient 5) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Marcogliese et al. (2018) identified a de novo heterozygous c.376C-T transition (c.376C-T, NM_024496.3) in the IRF2BPL gene, resulting in a gln126-to-ter (Q126X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</strong>
|
|
</span>
|
|
</h4>
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<span class="mim-text-font">
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IRF2BPL, PRO372ARG
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<br />
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SNP: rs1555377336,
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ClinVar: RCV000677388
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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 an 11-year-old boy (patient 6) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Marcogliese et al. (2018) identified a de novo heterozygous c.1115C-G transversion (c.1115C-G, NM_024496.3) in the IRF2BPL gene, resulting in a pro372-to-arg (P372R) substitution at a highly conserved residue. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. </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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<h4>
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<span class="mim-font">
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<strong>.0005 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</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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IRF2BPL, LYS418ASN
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<br />
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SNP: rs201073695,
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gnomAD: rs201073695,
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ClinVar: RCV000677389
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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 2.5-year-old girl (patient 7) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Marcogliese et al. (2018) identified a de novo heterozygous c.1254G-C transversion (c.1254G-C, NM_024496.3) in the IRF2BPL gene, resulting in a lys418-to-asn (K418N) substitution at a highly conserved residue. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the ExAC or gnomAD databases. </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 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</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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IRF2BPL, 1-BP DEL, 962C
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<br />
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SNP: rs1566786207,
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ClinVar: RCV000735795
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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 10.5-year-old girl (patient 7) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Tran Mau-Them et al. (2019) identified a de novo heterozygous 1-bp deletion (c.962delC, NM_024496.3) in the IRF2BPL gene, resulting in a frameshift and a premature termination codon (Ala321GlufsTer24). The mutation was found by exome sequencing and was not present in the gnomAD database. </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 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES</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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IRF2BPL, 2-BP DEL, 2135GT
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<br />
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ClinVar: RCV000735796
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 5-year-old boy (patient 9) with neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS; 618088), Tran Mau-Them et al. (2019) identified a de novo heterozygous 2-bp deletion (c.2135_2136delGT) in the IRF2BPL gene, resulting in a frameshift and a premature termination codon (Leu713SerfsTer56). The mutation was found by exome sequencing and was not present in the gnomAD database. </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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|
Heger, S., Mastronardi, C., Dissen, G. A., Lomniczi, A., Cabrera, R., Roth, C. L., Jung, H., Galimi, F., Sippell, W., Ojeda, S. R.
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|
<strong>Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.</strong>
|
|
J. Clin. Invest. 117: 2145-2154, 2007.
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[PubMed: 17627301]
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[Full Text: https://doi.org/10.1172/JCI31752]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Li, C., Li, P.
|
|
<strong>Enhanced at puberty-1 (Eap1) expression critically regulates the onset of puberty independent of hypothalamic Kiss1 expression.</strong>
|
|
Cell. Physiol. Biochem. 43: 1402-1412, 2017.
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[PubMed: 29017168]
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[Full Text: https://doi.org/10.1159/000481872]
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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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|
Marcogliese, P. C., Shashi, V., Spillmann, R. C., Stong, N., Rosenfeld, J. A., Koenig, M. K., Martinez-Agosto, J. A., Herzog, M., Chen, A. H., Dickson, P. I., Lin, H. J., Vera, M. U., and 22 others.
|
|
<strong>IRF2BPL is associated with neurological phenotypes.</strong>
|
|
Am. J. Hum. Genet. 103: 245-260, 2018. Note: Erratum: Am. J. Hum. Genet. 103: 456 only, 2018.
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[PubMed: 30057031]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.07.006]
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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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Rampazzo, A., Pivotto, F., Occhi, G., Tiso, N., Bortoluzzi, S., Rowen, L., Hood, L., Nava, A., Danieli, G. A.
|
|
<strong>Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.</strong>
|
|
Biochem. Biophys. Res. Commun. 278: 766-774, 2000.
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[PubMed: 11095982]
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[Full Text: https://doi.org/10.1006/bbrc.2000.3883]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., and 26 others.
|
|
<strong>De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.</strong>
|
|
Genet. Med. 21: 1008-1014, 2019.
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[PubMed: 30166628]
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[Full Text: https://doi.org/10.1038/s41436-018-0143-0]
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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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Yokoyama, A., Kouketsu, T., Otsubo, Y., Noro, E., Sawatsubashi, S., Shima, I., Satoh, I., Kawamura, S., Suzuki, T., Igarashi, K., Sugawara, A.
|
|
<strong>Identification and functional characterization of a novel androgen receptor coregulator, EAP1.</strong>
|
|
J. Endocr. Soc. 5: bvab150, 2021.
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[PubMed: 34585037]
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[Full Text: https://doi.org/10.1210/jendso/bvab150]
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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 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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Bao Lige - updated : 05/11/2022<br>Sonja A. Rasmussen - updated : 12/20/2018<br>Cassandra L. Kniffin - updated : 08/14/2018
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</span>
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</div>
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</div>
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<br />
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Patricia A. Hartz : 1/9/2008
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</span>
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Edit History:
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<span class="mim-text-font">
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carol : 05/12/2022<br>mgross : 05/11/2022<br>carol : 04/10/2019<br>carol : 12/20/2018<br>carol : 10/15/2018<br>carol : 08/17/2018<br>ckniffin : 08/14/2018<br>carol : 11/08/2017<br>wwang : 02/02/2009<br>wwang : 1/9/2008
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