3155 lines
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- *603111 - SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY E, MEMBER 1; SMARCE1
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603111</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603111">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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=ENSG00000073584;t=ENST00000348513" 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=6605" 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=603111" 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=ENSG00000073584;t=ENST00000348513" 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_003079" 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_003079" 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=603111" 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=04382&isoform_id=04382_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/SMARCE1" 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/2914753,13937941,15029623,21264355,30583191,39645807,61247587,119581074,119581075,169793989,169793991,169793993,169793995,169793997,193786044,193787772,194376758,194378168" 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/Q969G3" 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=6605" 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=ENSG00000073584;t=ENST00000348513" 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=SMARCE1" 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=SMARCE1" 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+6605" 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/SMARCE1" 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:6605" 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/6605" 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=chr17&hgg_gene=ENST00000348513.12&hgg_start=40624962&hgg_end=40647818&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11109" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11109" 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://medlineplus.gov/genetics/gene/smarce1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603111[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603111[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/SMARCE1/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/ENSG00000073584" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SMARCE1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SMARCE1" 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=SMARCE1" 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=SMARCE1&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/PA35959" 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:11109" 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/FBgn0030093.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:1927347" 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/SMARCE1#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:1927347" 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/6605/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://omia.org/OMIA002651/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6605" 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=WBGene00022182;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-030131-967" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6605" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SMARCE1&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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603111
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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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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY E, MEMBER 1; SMARCE1
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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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BRG1-ASSOCIATED FACTOR, 57-KD; BAF57
|
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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=SMARCE1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SMARCE1</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/17/519?start=-3&limit=10&highlight=519">17q21.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:40624962-40647818&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'})">17:40,624,962-40,647,818</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>
|
|
<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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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=607174,616938" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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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>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/519?start=-3&limit=10&highlight=519">
|
|
17q21.2
|
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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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{Meningioma, familial, susceptibility to}
|
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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/607174"> 607174 </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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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Coffin-Siris syndrome 5
|
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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/616938"> 616938 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
<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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|
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<p>The SWI/SNF complex in S. cerevisiae and Drosophila is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. The complex contains an ATP-dependent nucleosome disruption activity that can lead to enhanced binding of transcription factors. The BRG1/brm (<a href="/entry/603254">603254</a>)-associated factors, or BAF, complex in mammals is functionally related to SWI/SNF and consists of 9 to 12 subunits, some of which are homologous to SWI/SNF subunits. See <a href="/entry/601732">601732</a>. A 57-kD BAF subunit, BAF57, is present in higher eukaryotes, but not in yeast.</p>
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<p><a href="#4" class="mim-tip-reference" title="Wang, W., Chi, T., Xue, Y., Zhou, S., Kuo, A., Crabtree, G. R. <strong>Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes.</strong> Proc. Nat. Acad. Sci. 95: 492-498, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9435219[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/10.1073/pnas.95.2.492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9435219">Wang et al. (1998)</a> purified BAF57 from extracts of a human cell line and obtained a partial protein sequence. Based on the peptide sequences, they identified cDNAs encoding BAF57. The predicted 411-amino acid protein contains an HMG domain adjacent to a kinesin-like region. RNase protection studies and Western blot analysis revealed that BAF57 is expressed ubiquitously. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9435219" 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="Wang, W., Chi, T., Xue, Y., Zhou, S., Kuo, A., Crabtree, G. R. <strong>Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes.</strong> Proc. Nat. Acad. Sci. 95: 492-498, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9435219[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/10.1073/pnas.95.2.492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9435219">Wang et al. (1998)</a> showed that both recombinant BAF57 and the whole BAF complex bind 4-way junction (4WJ) DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The BAF57 DNA-binding activity has characteristics similar to those of other HMG proteins. However, <a href="#4" class="mim-tip-reference" title="Wang, W., Chi, T., Xue, Y., Zhou, S., Kuo, A., Crabtree, G. R. <strong>Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes.</strong> Proc. Nat. Acad. Sci. 95: 492-498, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9435219[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/10.1073/pnas.95.2.492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9435219">Wang et al. (1998)</a> found that complexes with mutations in the BAF57 HMG domain retain their DNA-binding and nucleosome-disruption activities. They suggested that the mechanism by which mammalian SWI/SNF-like complexes interact with chromatin may involve recognition of higher-order chromatin structure by 2 or more DNA-binding domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9435219" 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><strong><em>Coffin-Siris Syndrome 5</em></strong></p><p>
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In a Japanese patient with Coffin-Siris syndrome-5 (CSS5; <a href="/entry/616938">616938</a>), <a href="#3" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> identified a de novo heterozygous missense mutation in the SMARCE1 gene (Y73C; <a href="#0001">603111.0001</a>). The mutation was found by exome sequencing; functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" 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="#5" class="mim-tip-reference" title="Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others. <strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong> Hum. Molec. Genet. 22: 5121-5135, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23906836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23906836</a>] [<a href="https://doi.org/10.1093/hmg/ddt366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23906836">Wieczorek et al. (2013)</a> identified a de novo heterozygous missense mutation affecting the same codon as the mutation identified by <a href="#3" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> (Y73S; <a href="#0006">603111.0006</a>) in a 3-year-old girl with CSS5. The mutation was found by whole-exome sequencing; functional studies of the variant were not performed. The patient was 1 of 46 individuals with a clinical diagnosis of CSS who underwent sequencing, suggesting that SMARCE1 mutations are not common in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23906836+22426308" 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><strong><em>Susceptibility to Familial Meningioma</em></strong></p><p>
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In 6 patients from 4 unrelated families with spinal meningiomas (<a href="/entry/607174">607174</a>), <a href="#2" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> identified 4 different heterozygous loss-of-function mutations in the SMARCE1 gene (<a href="#0002">603111.0002</a>-<a href="#0005">603111.0005</a>). The first 2 mutations were identified by exome sequencing, and the second 2 were found by Sanger sequencing of the SMARCE1 gene in 6 additional patients with spinal meningiomas. The age at onset was between 15 and 30 years, and 5 of the patients were female. Three of the woman developed the tumors during pregnancy, suggesting a hormonal influence on penetrance. One unaffected father was heterozygous for the mutation, indicating incomplete penetrance. All spinal tumors were clear-cell type, and all tumors studied showed loss of the SMARCE1 protein, consistent with a tumor suppressor mechanism. However, only 1 of 3 tumors analyzed showed loss of heterozygosity for wildtype SMARCE1. Sequencing SMARCE1 in 34 individuals with multiple cranial meningiomas did not identify any mutations, suggesting that the mutations are specific for spinal tumors. <a href="#2" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> postulated that loss of SMARCE1 activity may lead to the uncoupling of apoptotic control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chi, T. H., Wan, M., Zhao, K., Taniuchi, I., Chen, L., Littman, D. R., Crabtree, G. R. <strong>Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes.</strong> Nature 418: 195-199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12110891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12110891</a>] [<a href="https://doi.org/10.1038/nature00876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12110891">Chi et al. (2002)</a> generated transgenic mice expressing dominant-negative mutants of Baf57 lacking the N terminus, including the HMG and proline-rich domains, or bearing a point mutation, lys112 to ile (K112I), that disrupted DNA binding. T-cell-specific expression of these mutants gave rise to complexes specifically deficient in HMG-mediated functions. Flow cytometric analysis demonstrated a compromise in CD4 (<a href="/entry/186940">186940</a>) silencing, indicated by premature CD4 expression at double-negative stage 3 (DN3) and the absence of a DN4 stage, and impaired CD8 (see <a href="/entry/186910">186910</a>) expression. Heterozygous Brg (<a href="/entry/603254">603254</a>) deletions indicated that CD8 expression was inhibited at the immature single-positive and double-positive stages independently of CD4 derepression. Mutational and flow cytometric analyses showed that CD4 silencer mutations and the Baf57 dominant-negative transgene each partially derepressed CD4 on DN3 cells. Immunoprecipitation analysis confirmed that Baf57 and Brg interacted with the CD4 silencer, but not with the CD8 enhancers III or IV. <a href="#1" class="mim-tip-reference" title="Chi, T. H., Wan, M., Zhao, K., Taniuchi, I., Chen, L., Littman, D. R., Crabtree, G. R. <strong>Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes.</strong> Nature 418: 195-199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12110891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12110891</a>] [<a href="https://doi.org/10.1038/nature00876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12110891">Chi et al. (2002)</a> noted that the alterations in CD4 and CD8 expression during thymic development were not associated with changes in CD4/CD8 coreceptor expression in mature T cells, which were relatively normal. The authors concluded that BRG is a major regulator of CD8 expression. They suggested that chromatin remodeling is dependent on the DNA-bending activity unique to the HMG domain and that other DNA/chromatin-binding domains exist in BAF complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12110891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906857 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906857;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=rs387906857" 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=rs387906857" 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=RCV000023251 OR RCV000193407" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023251, RCV000193407" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023251...</a>
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<p>In a Japanese patient (subject 24) with Coffin-Siris syndrome-5 (CSS5; <a href="/entry/616938">616938</a>), <a href="#3" class="mim-tip-reference" title="Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others. <strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong> Nature Genet. 44: 376-378, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>] [<a href="https://doi.org/10.1038/ng.2219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22426308">Tsurusaki et al. (2012)</a> detected a heterozygous A-to-G transition at nucleotide 218 of the SMARCE1 gene that resulted in a tyr-to-cys substitution at codon 73 (Y73C). The mutation occurred as a de novo event and was not observed in any of 368 Japanese controls, in the dbSNP (build 132), 1000 Genomes Project, or NHLBI Exome Sequencing Project databases. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" 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 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</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">rs397509405 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509405;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=rs397509405" 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=rs397509405" 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=RCV000049253 OR RCV001311880 OR RCV003162427" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049253, RCV001311880, RCV003162427" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049253...</a>
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<p>In a mother and daughter with clear-cell spinal meningiomas (<a href="/entry/607174">607174</a>), <a href="#2" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> identified a heterozygous c.715C-T transition in exon 9 of the SMARCE1 gene, resulting in an arg239-to-ter (R239X) substitution, predicted to result in nonsense-mediated mRNA decay. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, was not found in several large control exome databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" 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>.0003 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</strong>
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SMARCE1, IVS5DS, T-C, +2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509406 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509406;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=rs397509406" 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=rs397509406" 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=RCV000049254" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049254" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049254</a>
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<p>In a mother and daughter who developed clear-cell spinal meningiomas (<a href="/entry/607174">607174</a>) during pregnancy, <a href="#2" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> identified a heterozygous T-to-C transition in exon 5 of the SMARCE1 gene (c.237+2T-C), resulting in 2 abnormal transcripts: an insertion of the first 18 bases of intron 5, which introduces an in-frame premature stop codon after 3 codons and is predicted to lead to nonsense mediated decay (Lys79_Val80insTer), and a less-abundant transcript containing an in-frame deletion of exon 5 (Ala53_Lys79del). Skipping of exon 5 is predicted to remove the start of the high mobility group (HMG) domain. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, was not found in several large control exome databases. Immunohistochemical studies showed absence of the SMARCE1 protein in tumor tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" 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>.0004 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</strong>
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SMARCE1, TRP104TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509407 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509407;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=rs397509407" 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=rs397509407" 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=RCV000049255" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049255" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049255</a>
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<p>In a 26-year-old man with 2 clear-cell spinal meningiomas (<a href="/entry/607174">607174</a>), <a href="#2" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> identified a heterozygous c.311G-A transition in exon 6 of the SMARCE1 gene, resulting in a trp104-to-ter (W104X) substitution. The mutation was not found in several large control databases. One of the tumors showed loss of heterozygosity of SMARCE1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</strong>
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SMARCE1, 1-BP INS, 572C
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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> rs397509408 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509408;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/rs397509408?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=rs397509408" 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=rs397509408" 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=RCV000049256" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000049256" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000049256</a>
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<p>In a 17-year-old girl who presented with a clear-cell spinal meningioma (<a href="/entry/607174">607174</a>) at the foramen magnum during pregnancy, <a href="#2" class="mim-tip-reference" title="Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G. <strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong> Nature Genet. 45: 295-298, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>] [<a href="https://doi.org/10.1038/ng.2552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23377182">Smith et al. (2013)</a> identified a heterozygous 1-bp insertion (c.572insC) in exon 8 of the SMARCE1 gene, resulting in a frameshift and premature termination (Thr191ThrfsTer14). The tumor did not show loss of heterozygosity for SMARCE1, but immunohistochemical studies showed absence of the SMARCE1 protein. The patient's unaffected father also carried the mutation, which was not found in several large control databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" 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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SMARCE1, TYR73SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906857 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906857;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=rs387906857" 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=rs387906857" 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=RCV000211089" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000211089" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000211089</a>
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<p>In a 3-year-old girl (patient K2442) with Coffin-Siris syndrome-5 (CSS5; <a href="/entry/616938">616938</a>), <a href="#5" class="mim-tip-reference" title="Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others. <strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong> Hum. Molec. Genet. 22: 5121-5135, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23906836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23906836</a>] [<a href="https://doi.org/10.1093/hmg/ddt366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23906836">Wieczorek et al. (2013)</a> identified a de novo heterozygous c.218A-C transversion (c.218A-C, NM_003079.4) in exon 5 of the SMARCE1 gene, resulting in a tyr73-to-ser (Y73S) substitution at a highly conserved residue in the HMG box domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 135) database or in 105 in-house controls. A different mutation at the same codon (Y73C; <a href="#0001">603111.0001</a>) had been reported in another patient with CSS5. Functional studies of the variant were not performed. The patient was 1 of 46 individuals with a clinical diagnosis of CSS who underwent sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23906836" 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="Chi2002" class="mim-anchor"></a>
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Chi, T. H., Wan, M., Zhao, K., Taniuchi, I., Chen, L., Littman, D. R., Crabtree, G. R.
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<strong>Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes.</strong>
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Nature 418: 195-199, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12110891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12110891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12110891" 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/nature00876" target="_blank">Full Text</a>]
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Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G.
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<strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong>
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Nature Genet. 45: 295-298, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23377182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23377182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23377182" 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/ng.2552" target="_blank">Full Text</a>]
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Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others.
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<strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong>
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Nature Genet. 44: 376-378, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22426308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22426308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22426308" 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/ng.2219" target="_blank">Full Text</a>]
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<a id="Wang1998" class="mim-anchor"></a>
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Wang, W., Chi, T., Xue, Y., Zhou, S., Kuo, A., Crabtree, G. R.
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<strong>Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes.</strong>
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Proc. Nat. Acad. Sci. 95: 492-498, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9435219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9435219</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9435219[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=9435219" 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/10.1073/pnas.95.2.492" target="_blank">Full Text</a>]
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Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others.
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<strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong>
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Hum. Molec. Genet. 22: 5121-5135, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23906836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23906836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23906836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddt366" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 5/4/2016
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Cassandra L. Kniffin - updated : 7/1/2013<br>Ada Hamosh - updated : 4/30/2012<br>Paul J. Converse - updated : 7/10/2002
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Rebekah S. Rasooly : 10/9/1998
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carol : 04/11/2017
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alopez : 05/09/2016<br>alopez : 5/9/2016<br>ckniffin : 5/4/2016<br>carol : 9/24/2013<br>carol : 7/3/2013<br>ckniffin : 7/1/2013<br>carol : 6/5/2012<br>alopez : 5/3/2012<br>terry : 4/30/2012<br>mgross : 10/9/2002<br>mgross : 7/10/2002<br>mgross : 7/10/2002<br>alopez : 11/4/1998<br>alopez : 10/9/1998
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<strong>*</strong> 603111
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SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY E, MEMBER 1; SMARCE1
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BRG1-ASSOCIATED FACTOR, 57-KD; BAF57
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<strong><em>HGNC Approved Gene Symbol: SMARCE1</em></strong>
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Cytogenetic location: 17q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:40,624,962-40,647,818 </span>
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</strong>
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<span class="small">(from NCBI)</span>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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17q21.2
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{Meningioma, familial, susceptibility to}
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607174
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Autosomal dominant
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3
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Coffin-Siris syndrome 5
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<span class="mim-font">
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616938
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Autosomal dominant
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>The SWI/SNF complex in S. cerevisiae and Drosophila is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. The complex contains an ATP-dependent nucleosome disruption activity that can lead to enhanced binding of transcription factors. The BRG1/brm (603254)-associated factors, or BAF, complex in mammals is functionally related to SWI/SNF and consists of 9 to 12 subunits, some of which are homologous to SWI/SNF subunits. See 601732. A 57-kD BAF subunit, BAF57, is present in higher eukaryotes, but not in yeast.</p>
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<strong>Cloning and Expression</strong>
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<p>Wang et al. (1998) purified BAF57 from extracts of a human cell line and obtained a partial protein sequence. Based on the peptide sequences, they identified cDNAs encoding BAF57. The predicted 411-amino acid protein contains an HMG domain adjacent to a kinesin-like region. RNase protection studies and Western blot analysis revealed that BAF57 is expressed ubiquitously. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wang et al. (1998) showed that both recombinant BAF57 and the whole BAF complex bind 4-way junction (4WJ) DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The BAF57 DNA-binding activity has characteristics similar to those of other HMG proteins. However, Wang et al. (1998) found that complexes with mutations in the BAF57 HMG domain retain their DNA-binding and nucleosome-disruption activities. They suggested that the mechanism by which mammalian SWI/SNF-like complexes interact with chromatin may involve recognition of higher-order chromatin structure by 2 or more DNA-binding domains. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Coffin-Siris Syndrome 5</em></strong></p><p>
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In a Japanese patient with Coffin-Siris syndrome-5 (CSS5; 616938), Tsurusaki et al. (2012) identified a de novo heterozygous missense mutation in the SMARCE1 gene (Y73C; 603111.0001). The mutation was found by exome sequencing; functional studies of the variant were not performed. </p><p>Wieczorek et al. (2013) identified a de novo heterozygous missense mutation affecting the same codon as the mutation identified by Tsurusaki et al. (2012) (Y73S; 603111.0006) in a 3-year-old girl with CSS5. The mutation was found by whole-exome sequencing; functional studies of the variant were not performed. The patient was 1 of 46 individuals with a clinical diagnosis of CSS who underwent sequencing, suggesting that SMARCE1 mutations are not common in this disorder. </p><p><strong><em>Susceptibility to Familial Meningioma</em></strong></p><p>
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In 6 patients from 4 unrelated families with spinal meningiomas (607174), Smith et al. (2013) identified 4 different heterozygous loss-of-function mutations in the SMARCE1 gene (603111.0002-603111.0005). The first 2 mutations were identified by exome sequencing, and the second 2 were found by Sanger sequencing of the SMARCE1 gene in 6 additional patients with spinal meningiomas. The age at onset was between 15 and 30 years, and 5 of the patients were female. Three of the woman developed the tumors during pregnancy, suggesting a hormonal influence on penetrance. One unaffected father was heterozygous for the mutation, indicating incomplete penetrance. All spinal tumors were clear-cell type, and all tumors studied showed loss of the SMARCE1 protein, consistent with a tumor suppressor mechanism. However, only 1 of 3 tumors analyzed showed loss of heterozygosity for wildtype SMARCE1. Sequencing SMARCE1 in 34 individuals with multiple cranial meningiomas did not identify any mutations, suggesting that the mutations are specific for spinal tumors. Smith et al. (2013) postulated that loss of SMARCE1 activity may lead to the uncoupling of apoptotic control. </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>Animal Model</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>Chi et al. (2002) generated transgenic mice expressing dominant-negative mutants of Baf57 lacking the N terminus, including the HMG and proline-rich domains, or bearing a point mutation, lys112 to ile (K112I), that disrupted DNA binding. T-cell-specific expression of these mutants gave rise to complexes specifically deficient in HMG-mediated functions. Flow cytometric analysis demonstrated a compromise in CD4 (186940) silencing, indicated by premature CD4 expression at double-negative stage 3 (DN3) and the absence of a DN4 stage, and impaired CD8 (see 186910) expression. Heterozygous Brg (603254) deletions indicated that CD8 expression was inhibited at the immature single-positive and double-positive stages independently of CD4 derepression. Mutational and flow cytometric analyses showed that CD4 silencer mutations and the Baf57 dominant-negative transgene each partially derepressed CD4 on DN3 cells. Immunoprecipitation analysis confirmed that Baf57 and Brg interacted with the CD4 silencer, but not with the CD8 enhancers III or IV. Chi et al. (2002) noted that the alterations in CD4 and CD8 expression during thymic development were not associated with changes in CD4/CD8 coreceptor expression in mature T cells, which were relatively normal. The authors concluded that BRG is a major regulator of CD8 expression. They suggested that chromatin remodeling is dependent on the DNA-bending activity unique to the HMG domain and that other DNA/chromatin-binding domains exist in BAF complexes. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 COFFIN-SIRIS SYNDROME 5</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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SMARCE1, TYR73CYS
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<br />
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SNP: rs387906857,
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ClinVar: RCV000023251, RCV000193407
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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 Japanese patient (subject 24) with Coffin-Siris syndrome-5 (CSS5; 616938), Tsurusaki et al. (2012) detected a heterozygous A-to-G transition at nucleotide 218 of the SMARCE1 gene that resulted in a tyr-to-cys substitution at codon 73 (Y73C). The mutation occurred as a de novo event and was not observed in any of 368 Japanese controls, in the dbSNP (build 132), 1000 Genomes Project, or NHLBI Exome Sequencing Project databases. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</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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SMARCE1, ARG239TER
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<br />
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SNP: rs397509405,
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ClinVar: RCV000049253, RCV001311880, RCV003162427
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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 mother and daughter with clear-cell spinal meningiomas (607174), Smith et al. (2013) identified a heterozygous c.715C-T transition in exon 9 of the SMARCE1 gene, resulting in an arg239-to-ter (R239X) substitution, predicted to result in nonsense-mediated mRNA decay. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, was not found in several large control exome 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>.0003 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</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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SMARCE1, IVS5DS, T-C, +2
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<br />
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SNP: rs397509406,
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ClinVar: RCV000049254
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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 mother and daughter who developed clear-cell spinal meningiomas (607174) during pregnancy, Smith et al. (2013) identified a heterozygous T-to-C transition in exon 5 of the SMARCE1 gene (c.237+2T-C), resulting in 2 abnormal transcripts: an insertion of the first 18 bases of intron 5, which introduces an in-frame premature stop codon after 3 codons and is predicted to lead to nonsense mediated decay (Lys79_Val80insTer), and a less-abundant transcript containing an in-frame deletion of exon 5 (Ala53_Lys79del). Skipping of exon 5 is predicted to remove the start of the high mobility group (HMG) domain. The mutation, which was identified by exome sequencing and confirmed by Sanger sequencing, was not found in several large control exome databases. Immunohistochemical studies showed absence of the SMARCE1 protein in tumor tissue. </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">
|
|
<strong>.0004 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</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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|
|
SMARCE1, TRP104TER
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|
<br />
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|
|
SNP: rs397509407,
|
|
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|
|
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|
|
ClinVar: RCV000049255
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 26-year-old man with 2 clear-cell spinal meningiomas (607174), Smith et al. (2013) identified a heterozygous c.311G-A transition in exon 6 of the SMARCE1 gene, resulting in a trp104-to-ter (W104X) substitution. The mutation was not found in several large control databases. One of the tumors showed loss of heterozygosity of SMARCE1. </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>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
SMARCE1, 1-BP INS, 572C
|
|
|
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|
|
<br />
|
|
|
|
SNP: rs397509408,
|
|
|
|
|
|
gnomAD: rs397509408,
|
|
|
|
|
|
ClinVar: RCV000049256
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old girl who presented with a clear-cell spinal meningioma (607174) at the foramen magnum during pregnancy, Smith et al. (2013) identified a heterozygous 1-bp insertion (c.572insC) in exon 8 of the SMARCE1 gene, resulting in a frameshift and premature termination (Thr191ThrfsTer14). The tumor did not show loss of heterozygosity for SMARCE1, but immunohistochemical studies showed absence of the SMARCE1 protein. The patient's unaffected father also carried the mutation, which was not found in several large control databases. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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|
</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 COFFIN-SIRIS SYNDROME 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SMARCE1, TYR73SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906857,
|
|
|
|
|
|
|
|
ClinVar: RCV000211089
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old girl (patient K2442) with Coffin-Siris syndrome-5 (CSS5; 616938), Wieczorek et al. (2013) identified a de novo heterozygous c.218A-C transversion (c.218A-C, NM_003079.4) in exon 5 of the SMARCE1 gene, resulting in a tyr73-to-ser (Y73S) substitution at a highly conserved residue in the HMG box domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the dbSNP (build 135) database or in 105 in-house controls. A different mutation at the same codon (Y73C; 603111.0001) had been reported in another patient with CSS5. Functional studies of the variant were not performed. The patient was 1 of 46 individuals with a clinical diagnosis of CSS who underwent sequencing. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>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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Chi, T. H., Wan, M., Zhao, K., Taniuchi, I., Chen, L., Littman, D. R., Crabtree, G. R.
|
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<strong>Reciprocal regulation of CD4/CD8 expression by SWI/SNF-like BAF complexes.</strong>
|
|
Nature 418: 195-199, 2002.
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[PubMed: 12110891]
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[Full Text: https://doi.org/10.1038/nature00876]
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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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Smith, M. J., O'Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., Fitzpatrick, D., Rawluk, D., du Plessis, D., Newman, W. G., Evans, D. G.
|
|
<strong>Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.</strong>
|
|
Nature Genet. 45: 295-298, 2013.
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[PubMed: 23377182]
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[Full Text: https://doi.org/10.1038/ng.2552]
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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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Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., Fukushima, Y., Homma, T., and 19 others.
|
|
<strong>Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.</strong>
|
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Nature Genet. 44: 376-378, 2012.
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[PubMed: 22426308]
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[Full Text: https://doi.org/10.1038/ng.2219]
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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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Wang, W., Chi, T., Xue, Y., Zhou, S., Kuo, A., Crabtree, G. R.
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<strong>Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes.</strong>
|
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Proc. Nat. Acad. Sci. 95: 492-498, 1998.
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[PubMed: 9435219]
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[Full Text: https://doi.org/10.1073/pnas.95.2.492]
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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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Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., and 44 others.
|
|
<strong>A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.</strong>
|
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Hum. Molec. Genet. 22: 5121-5135, 2013.
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[PubMed: 23906836]
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[Full Text: https://doi.org/10.1093/hmg/ddt366]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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|
Contributors:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/4/2016<br>Cassandra L. Kniffin - updated : 7/1/2013<br>Ada Hamosh - updated : 4/30/2012<br>Paul J. Converse - updated : 7/10/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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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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Rebekah S. Rasooly : 10/9/1998
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</span>
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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carol : 04/11/2017<br>alopez : 05/09/2016<br>alopez : 5/9/2016<br>ckniffin : 5/4/2016<br>carol : 9/24/2013<br>carol : 7/3/2013<br>ckniffin : 7/1/2013<br>carol : 6/5/2012<br>alopez : 5/3/2012<br>terry : 4/30/2012<br>mgross : 10/9/2002<br>mgross : 7/10/2002<br>mgross : 7/10/2002<br>alopez : 11/4/1998<br>alopez : 10/9/1998
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</span>
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