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Entry
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- *603309 - CYCLIN-DEPENDENT KINASE 13; CDK13
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603309</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603309">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<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 class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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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<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=ENSG00000065883;t=ENST00000181839" 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=8621" 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=603309" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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=ENSG00000065883;t=ENST00000181839" 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_003718,NM_031267,XM_011515597,XM_017012750,XM_017012751" 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_003718" 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=603309" 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=04496&isoform_id=04496_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/CDK13" 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/180492,5870326,10443222,10443224,12654861,14017799,41472984,41472985,50345282,62897667,66774048,119614534,119614535,119614536,119614537,119614538,119614539,145309300,145309302,767945993,1034657270,1034657272,2462616683,2462616685,2462616687" 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/Q14004" 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=8621" 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=ENSG00000065883;t=ENST00000181839" 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=CDK13" 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=CDK13" 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+8621" 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/CDK13" 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:8621" 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/8621" 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=chr7&hgg_gene=ENST00000181839.10&hgg_start=39950256&hgg_end=40099580&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 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:1733" 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:1733" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603309[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=603309[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/CDK13/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/ENSG00000065883" 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=CDK13" 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=CDK13" 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=CDK13" 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=CDK13&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/PA26264" 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:1733" 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/FBgn0037093.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:1916812" 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/CDK13#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:1916812" 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/8621/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=8621" 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=WBGene00007135;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-030131-4975" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CDK13&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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603309
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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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CYCLIN-DEPENDENT KINASE 13; CDK13
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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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CELL DIVISION CYCLE 2-LIKE 5; CDC2L5<br />
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CELL DIVISION CONTROLLER, CHOLINESTERASE-RELATED; CHED<br />
|
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KIAA0904
|
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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=CDK13" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CDK13</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/7/207?start=-3&limit=10&highlight=207">7p14.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:39950256-40099580&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'})">7:39,950,256-40,099,580</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/7/207?start=-3&limit=10&highlight=207">
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7p14.1
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
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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/617360"> 617360 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/603309" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/603309" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>CDK13 forms a complex with cyclin K (CCNK; <a href="/entry/603544">603544</a>) and is predicted to have a role in gene regulation (<a href="#1" class="mim-tip-reference" title="Blazek, D., Kohoutek, J., Bartholomeeusen, K., Johansen, E., Hulinkova, P., Luo, Z., Cimermancic, P., Ule, J., Peterlin, B. M. <strong>The cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.</strong> Genes Dev. 25: 2158-2172, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22012619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22012619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22012619[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/10.1101/gad.16962311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22012619">Blazek et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22012619" 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="#6" class="mim-tip-reference" title="Lapidot-Lifson, Y., Patinkin, D., Prody, C. A., Ehrlich, G., Seidman, S., Ben-Aziz, R., Benseler, F., Eckstein, F., Zakut, H., Soreq, H. <strong>Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis.</strong> Proc. Nat. Acad. Sci. 89: 579-583, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1731328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1731328</a>] [<a href="https://doi.org/10.1073/pnas.89.2.579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1731328">Lapidot-Lifson et al. (1992)</a> cloned a glioblastoma cDNA encoding a protein related to the S. pombe cdc2 kinase. They designated the predicted 418-amino acid protein CHED, for cholinesterase-related cell division controller. The CHED protein shares 34 to 42% sequence identity with human CDC2 (<a href="/entry/116940">116940</a>), S. cerevisiae Cdc28, and S. pombe Cdc2, 3 functionally interchangeable proteins. Northern blot analysis revealed that CHED is expressed as 2.2- to 2.3-kb mRNAs in several fetal tissues and tumor cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1731328" 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="#7" class="mim-tip-reference" title="Marques, F., Moreau, J. L., Peaucellier, G., Lozano, J. C., Schatt, P., Picard, A., Callebaut, I., Perret, E., Geneviere, A. M. <strong>A new subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs.</strong> Biochem. Biophys. Res. Commun. 279: 832-837, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11162436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11162436</a>] [<a href="https://doi.org/10.1006/bbrc.2000.4042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11162436">Marques et al. (2000)</a> cloned full-length CDC2L5 from sea urchin and human. The full-length human protein contains 1,512 amino acids. Both human and sea urchin CDC2L5 contain a conserved kinase domain surrounded by N and C termini of more than 400 amino acids, and they belong to a subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs. Northern blot analysis detected Cdc2l5 during sea urchin early embryogenesis. In human, CDC2L5 showed ubiquitous expression, with higher levels in liver and placenta. The authors identified a putative CDC2L5 splice variant encoding an isoform of 1,452 amino acids that showed a similar expression pattern as full-length CDC2L5. Immunofluorescence assays detected CDC2L5 protein in nuclei of transfected HEK 293 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11162436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Western blot analysis, <a href="#8" class="mim-tip-reference" title="Novakova, M., Hampl, M., Vrabel, D., Prochazka, J., Petrezselyova, S., Prochazkova, M., Sedlacek, R., Kavkova, M., Zikmund, T., Kaiser, J., Juan, H. C., Fann, M. J., Buchtova, M., Kohoutek, J. <strong>Mouse model of congenital heart defects, dysmorphic facial features and intellectual developmental disorders as a result of non-functional CDK13.</strong> Front. Cell Dev. Biol. 7: 155, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31440507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31440507</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31440507[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/10.3389/fcell.2019.00155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31440507">Novakova et al. (2019)</a> showed that Cdk13 was expressed in multiple embryonic mouse organs, with highest expression in brain, followed by lung, kidney, and heart. In adult mice, Cdk13 was strongly expressed in retina, testis, ovary, uterus, and gall bladder, with lower expression in urinary bladder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31440507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using an antisense oligonucleotide, <a href="#6" class="mim-tip-reference" title="Lapidot-Lifson, Y., Patinkin, D., Prody, C. A., Ehrlich, G., Seidman, S., Ben-Aziz, R., Benseler, F., Eckstein, F., Zakut, H., Soreq, H. <strong>Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis.</strong> Proc. Nat. Acad. Sci. 89: 579-583, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1731328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1731328</a>] [<a href="https://doi.org/10.1073/pnas.89.2.579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1731328">Lapidot-Lifson et al. (1992)</a> found that reduced CHED expression selectively inhibited megakaryocyte development in murine bone marrow cultures but did not prevent other hematopoietic pathways. Antisense mRNA inhibition of BCHE (<a href="/entry/177400">177400</a>) expression had a similar effect. The authors suggested that CHED and BCHE are interrelated components responsive to cholinergic signals in the hematopoietic pathway. They stated that a link between cholinergic signaling and cell division might be mediated through individual CDC proteins in a cell lineage-specific manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1731328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mass spectrometric techniques and reciprocal immunoprecipitation analysis with HEK293 cells, <a href="#1" class="mim-tip-reference" title="Blazek, D., Kohoutek, J., Bartholomeeusen, K., Johansen, E., Hulinkova, P., Luo, Z., Cimermancic, P., Ule, J., Peterlin, B. M. <strong>The cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.</strong> Genes Dev. 25: 2158-2172, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22012619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22012619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22012619[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/10.1101/gad.16962311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22012619">Blazek et al. (2011)</a> found that CYCK interacted with CDK12 (<a href="/entry/615514">615514</a>) and CDK13 in separate protein complexes. Microarray and RT-PCR analyses showed that knockdown of CYCK or CDK12, but not CDK13, altered expression of long complex genes and induced DNA damage and cell-cycle checkpoint. <a href="#1" class="mim-tip-reference" title="Blazek, D., Kohoutek, J., Bartholomeeusen, K., Johansen, E., Hulinkova, P., Luo, Z., Cimermancic, P., Ule, J., Peterlin, B. M. <strong>The cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.</strong> Genes Dev. 25: 2158-2172, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22012619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22012619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22012619[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/10.1101/gad.16962311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22012619">Blazek et al. (2011)</a> concluded that the CYCK-CDK12 and CYCK-CDK13 complexes have unique functions in gene regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22012619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using database analysis and experimental approaches, <a href="#5" class="mim-tip-reference" title="Insco, M. L., Abraham, B. J., Dubbury, S. J., Kaltheuner, I. H., Dust, S., Wu, C., Chen, K. Y., Liu, D., Bellaousov, S., Cox, A. M., Martin, B. J. E., Zhang, T., and 13 others. <strong>Oncogenic CDK13 mutations impede nuclear RNA surveillance.</strong> Science 380: eabn7625, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37079685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37079685</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37079685[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/10.1126/science.abn7625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37079685">Insco et al. (2023)</a> showed that CDK13 had properties consistent with a tumor suppressor. CDK13 mutations in melanoma (see <a href="/entry/155600">155600</a>), especially those in the kinase domain, abrogated its kinase activity and produced dominant-negative activity over wildtype CDK13. CDK13 mutations associated with melanoma caused accumulation of prematurely terminated RNAs (ptRNAs) generated from existing cleavage and polyadenylation sites found in intronic DNA. ptRNAs accumulated posttranscriptionally due to loss of degradation by the nuclear exosome in CDK13 mutant cells. Rather than being degraded, ptRNAs were exported to the cytoplasm, where they, including their intronic sequences, were translated into truncated proteins. Mutant CDK13 expression caused inefficient recruitment of the PAXT complex, which degrades ptRNAs, leading to disruption of the polyA RNA exosome and stabilization of ptRNAs. Database analysis and studies with a zebrafish model confirmed that ptRNA accumulation is oncogenic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37079685" 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="#7" class="mim-tip-reference" title="Marques, F., Moreau, J. L., Peaucellier, G., Lozano, J. C., Schatt, P., Picard, A., Callebaut, I., Perret, E., Geneviere, A. M. <strong>A new subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs.</strong> Biochem. Biophys. Res. Commun. 279: 832-837, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11162436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11162436</a>] [<a href="https://doi.org/10.1006/bbrc.2000.4042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11162436">Marques et al. (2000)</a> determined that the CDK13 gene contains 14 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11162436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 6/29/2012."None>Gross (2012)</a> mapped the CDK13 gene to chromosome 7p14.1 based on an alignment of the CDK13 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AJ297709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AJ297709</a>) with the genomic sequence (GRCh37).</p>
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<p>In 7 unrelated children with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; <a href="/entry/617360">617360</a>), <a href="#9" class="mim-tip-reference" title="Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Al Turki, S. H., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., and 63 others. <strong>Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.</strong> Nature Genet. 48: 1060-1065, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27479907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27479907</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27479907[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27479907">Sifrim et al. (2016)</a> identified heterozygous missense mutations in the CDK13 gene (<a href="#0001">603309.0001</a>-<a href="#0004">603309.0004</a>). Six of the mutations were proven to have occurred de novo; paternal DNA from the seventh patient was not available, but his mother did not carry the variant. Four patients carried the same mutation (N842S; <a href="#0001">603309.0001</a>). All mutations occurred in the highly conserved protein kinase domain, and molecular modeling predicted that the mutations would impair ATP binding, binding of the magnesium ion essential for enzyme activity, or interactions with cyclin K (<a href="/entry/603544">603544</a>). Six of the patients were ascertained from a cohort of 518 trios in which a child with syndromic congenital heart defects underwent exome sequencing; the seventh patient was 1 of 86 singleton cases. Statistical analysis indicated that de novo missense mutations in the CDK13 gene were significantly enriched in patients compared to those expected under a null mutational model (p = 2.26 x 10(-12), Bonferroni-corrected p = 0.05). Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27479907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 9 patients with CHDFIDD, <a href="#2" class="mim-tip-reference" title="Bostwick, B. L., McLean, S., Posey, J. E., Streff, H. E., Gripp, K. W., Blesson, A., Powell-Hamilton, N., Tusi, J., Stevenson, D. A., Farrelly, E., Hudgins, L., Yang, Y., and 21 others. <strong>Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.</strong> Genome Med. 9: 73, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28807008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28807008</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28807008[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13073-017-0463-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28807008">Bostwick et al. (2017)</a> identified heterozygous pathogenic variants in the CDK13 gene. Two patients had novel CDK13 missense mutations (e.g., N842D; <a href="#0005">603309.0005</a>), while the other 7 had the previously identified recurrent variant N842S (<a href="#0001">603309.0001</a>). The authors also reviewed 20 previously reported patients with CDK13 pathogenic variants. Of the total of 29 patients with CDK13 pathogenic variants, mutations in 27 were de novo and in 2 were of unknown inheritance due to parental samples being unavailable. All variants were missense mutations predicted to impact the protein kinase domain, with clustering in the ATP-binding and magnesium binding sites. More than half (15/29) affected asparagine-842, (14 patients with N842S, <a href="#0001">603309.0001</a> and 1 patient with N842D, <a href="#0005">603309.0005</a>), suggesting its importance in magnesium binding. The authors noted that the clustering of missense mutations within a single protein domain and the lack of loss-of-function variants is consistent with a possible gain-of-function mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28807008" 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="#4" class="mim-tip-reference" title="Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., Kumar, D., Lampe, A. K. <strong>Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.</strong> J. Med. Genet. 55: 28-38, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29021403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29021403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29021403[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/10.1136/jmedgenet-2017-104620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29021403">Hamilton et al. (2018)</a> reported 9 additional unrelated patients with CHDFIDD associated with de novo heterozygous mutations in the CDK13 gene that were identified by whole-exome sequencing (see, e.g., <a href="#0001">603309.0001</a>-<a href="#0002">603309.0002</a>; <a href="#0005">603309.0005</a>-<a href="#0006">603309.0006</a>). Aside from 1 patient with a splice site mutation, all mutations were missense substitution affecting highly conserved residues. All mutations, including the splice site mutation, occurred within the protein kinase domain, and none were found in the gnomAD database. Molecular modeling and structural analysis indicated that all the missense variants would cause changes to bonding and/or structure that would likely lead to significant loss of catalytic activity. <a href="#4" class="mim-tip-reference" title="Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., Kumar, D., Lampe, A. K. <strong>Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.</strong> J. Med. Genet. 55: 28-38, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29021403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29021403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29021403[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/10.1136/jmedgenet-2017-104620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29021403">Hamilton et al. (2018)</a> postulated a dominant-negative effect wherein the mutant missense variants would sequester cyclin K into inactive complexes or compete with active complexes for binding to substrates. In vitro functional expression studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29021403" 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="#8" class="mim-tip-reference" title="Novakova, M., Hampl, M., Vrabel, D., Prochazka, J., Petrezselyova, S., Prochazkova, M., Sedlacek, R., Kavkova, M., Zikmund, T., Kaiser, J., Juan, H. C., Fann, M. J., Buchtova, M., Kohoutek, J. <strong>Mouse model of congenital heart defects, dysmorphic facial features and intellectual developmental disorders as a result of non-functional CDK13.</strong> Front. Cell Dev. Biol. 7: 155, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31440507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31440507</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31440507[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/10.3389/fcell.2019.00155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31440507">Novakova et al. (2019)</a> generated mice with Cdk13 deficiency due to homozygosity for a Cdk13 hypomorphic mutation within intron 2 that resulted in residual expression of a truncated protein. Homozygous mutant mice underwent embryonic lethality starting from embryonic day-14.5 (E14.5), with total lethality before E16.5. Compared with wildtype, mutant embryos displayed growth retardation and developmental delay, with improper development of multiple organs, especially heart. Lethality appeared to be caused by heart failure. Mice homozygous for a Cdk13 mutation causing deletion of exons 3 and 4 and no residual expression had a more severe phenotype and earlier lethality with developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31440507" 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">rs878853160 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs878853160;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=rs878853160" 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=rs878853160" 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=RCV000417211 OR RCV000498452 OR RCV000622786 OR RCV000850464 OR RCV001526523" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000417211, RCV000498452, RCV000622786, RCV000850464, RCV001526523" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000417211...</a>
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<p>In 3 unrelated children with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; <a href="/entry/617360">617360</a>), <a href="#9" class="mim-tip-reference" title="Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Al Turki, S. H., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., and 63 others. <strong>Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.</strong> Nature Genet. 48: 1060-1065, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27479907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27479907</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27479907[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27479907">Sifrim et al. (2016)</a> identified a de novo heterozygous c.2525A-G transition (c.2525A-G, NM_031267.3) in the CDK13 gene, resulting in an asn842-to-ser (N842S) substitution in the highly conserved protein kinase domain. A fourth patient with the disorder also carried this heterozygous variant: paternal DNA was not available, but his mother did not carry the variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27479907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 7 patients with CHDFIDD, <a href="#2" class="mim-tip-reference" title="Bostwick, B. L., McLean, S., Posey, J. E., Streff, H. E., Gripp, K. W., Blesson, A., Powell-Hamilton, N., Tusi, J., Stevenson, D. A., Farrelly, E., Hudgins, L., Yang, Y., and 21 others. <strong>Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.</strong> Genome Med. 9: 73, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28807008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28807008</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28807008[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13073-017-0463-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28807008">Bostwick et al. (2017)</a> identified a heterozygous N842S mutation. The mutation occurred de novo in all except 1, in whom inheritance was unknown due to parental samples being unavailable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28807008" 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="#4" class="mim-tip-reference" title="Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., Kumar, D., Lampe, A. K. <strong>Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.</strong> J. Med. Genet. 55: 28-38, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29021403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29021403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29021403[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/10.1136/jmedgenet-2017-104620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29021403">Hamilton et al. (2018)</a> identified a de novo heterozygous N842S mutation in a patient (patient 11) with CHDFIDD. Functional studies of the variant and studies of patient cells were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29021403" 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">rs1057519632 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1057519632;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=rs1057519632" 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=rs1057519632" 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=RCV000417213 OR RCV000489190 OR RCV000622659 OR RCV001527382" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000417213, RCV000489190, RCV000622659, RCV001527382" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000417213...</a>
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<p>In a 7.8-year-old boy with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; <a href="/entry/617360">617360</a>), <a href="#9" class="mim-tip-reference" title="Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Al Turki, S. H., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., and 63 others. <strong>Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.</strong> Nature Genet. 48: 1060-1065, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27479907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27479907</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27479907[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27479907">Sifrim et al. (2016)</a> identified a de novo heterozygous c.2149G-A transition (c.2149G-A, NM_031267.3) in the CDK13 gene, resulting in a gly717-to-arg (G717R) substitution in the highly conserved protein kinase domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27479907" 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="#4" class="mim-tip-reference" title="Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., Kumar, D., Lampe, A. K. <strong>Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.</strong> J. Med. Genet. 55: 28-38, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29021403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29021403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29021403[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/10.1136/jmedgenet-2017-104620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29021403">Hamilton et al. (2018)</a> identified a de novo heterozygous G717R mutation in a patient (patient 3) with CHDFIDD. The patient was mosaic for the mutation. Functional studies of the variant were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29021403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 5-year-old girl with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; <a href="/entry/617360">617360</a>), <a href="#9" class="mim-tip-reference" title="Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Al Turki, S. H., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., and 63 others. <strong>Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.</strong> Nature Genet. 48: 1060-1065, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27479907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27479907</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27479907[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27479907">Sifrim et al. (2016)</a> identified a de novo heterozygous c.2140G-C transversion (c.2140G-C, NM_031267.3) in the CDK13 gene, resulting in a gly714-to-arg (G714R) substitution in the highly conserved protein kinase domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27479907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 12-year-old girl with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; <a href="/entry/617360">617360</a>), <a href="#9" class="mim-tip-reference" title="Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Al Turki, S. H., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., and 63 others. <strong>Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.</strong> Nature Genet. 48: 1060-1065, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27479907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27479907</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27479907[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27479907">Sifrim et al. (2016)</a> identified a de novo heterozygous c.2252G-A transition (c.2252G-A, NM_031267.3) in the CDK13 gene, resulting in an arg751-to-gln (R751Q) substitution in the highly conserved protein kinase domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27479907" 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 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER</strong>
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<p>In a 2-year-old girl (patient 1001) with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; <a href="/entry/617360">617360</a>), <a href="#2" class="mim-tip-reference" title="Bostwick, B. L., McLean, S., Posey, J. E., Streff, H. E., Gripp, K. W., Blesson, A., Powell-Hamilton, N., Tusi, J., Stevenson, D. A., Farrelly, E., Hudgins, L., Yang, Y., and 21 others. <strong>Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.</strong> Genome Med. 9: 73, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28807008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28807008</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28807008[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13073-017-0463-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28807008">Bostwick et al. (2017)</a> identified a heterozygous de novo c.2524A-G transversion in the CDK13 gene that resulted in an asn842-to-asp (N842D) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28807008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-year-old girl (patient 12) with CHDFIDD, <a href="#4" class="mim-tip-reference" title="Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., Kumar, D., Lampe, A. K. <strong>Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.</strong> J. Med. Genet. 55: 28-38, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29021403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29021403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29021403[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/10.1136/jmedgenet-2017-104620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29021403">Hamilton et al. (2018)</a> identified a de novo heterozygous mutation in the CDK13 gene, resulting in an asn842-to-asp (N842D) substitution at a highly conserved residue in the protein kinase domain. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29021403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an 8-year-old girl (patient 14) with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; <a href="/entry/617360">617360</a>), <a href="#4" class="mim-tip-reference" title="Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., Kumar, D., Lampe, A. K. <strong>Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.</strong> J. Med. Genet. 55: 28-38, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29021403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29021403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29021403[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/10.1136/jmedgenet-2017-104620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29021403">Hamilton et al. (2018)</a> identified a de novo heterozygous mutation in the CDK13 gene, resulting in a val874-to-leu (V874L) substitution at a highly conserved residue in the activation loop within the protein kinase domain. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29021403" 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="Blazek2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Blazek, D., Kohoutek, J., Bartholomeeusen, K., Johansen, E., Hulinkova, P., Luo, Z., Cimermancic, P., Ule, J., Peterlin, B. M.
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<strong>The cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.</strong>
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Genes Dev. 25: 2158-2172, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22012619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22012619</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22012619[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=22012619" 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/10.1101/gad.16962311" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Bostwick2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bostwick, B. L., McLean, S., Posey, J. E., Streff, H. E., Gripp, K. W., Blesson, A., Powell-Hamilton, N., Tusi, J., Stevenson, D. A., Farrelly, E., Hudgins, L., Yang, Y., and 21 others.
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<strong>Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.</strong>
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Genome Med. 9: 73, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28807008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28807008</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28807008[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=28807008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/s13073-017-0463-8" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Gross2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Gross, M. B.
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<strong>Personal Communication.</strong>
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|
Baltimore, Md. 6/29/2012.
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Hamilton2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., Kumar, D., Lampe, A. K.
|
|
<strong>Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.</strong>
|
|
J. Med. Genet. 55: 28-38, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29021403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29021403</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29021403[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=29021403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2017-104620" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Insco2023" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Insco, M. L., Abraham, B. J., Dubbury, S. J., Kaltheuner, I. H., Dust, S., Wu, C., Chen, K. Y., Liu, D., Bellaousov, S., Cox, A. M., Martin, B. J. E., Zhang, T., and 13 others.
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|
<strong>Oncogenic CDK13 mutations impede nuclear RNA surveillance.</strong>
|
|
Science 380: eabn7625, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37079685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37079685</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37079685[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=37079685" 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/10.1126/science.abn7625" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Lapidot-Lifson1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lapidot-Lifson, Y., Patinkin, D., Prody, C. A., Ehrlich, G., Seidman, S., Ben-Aziz, R., Benseler, F., Eckstein, F., Zakut, H., Soreq, H.
|
|
<strong>Cloning and antisense oligodeoxynucleotide inhibition of a human homolog of cdc2 required in hematopoiesis.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 579-583, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1731328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1731328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1731328" 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.89.2.579" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Marques2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marques, F., Moreau, J. L., Peaucellier, G., Lozano, J. C., Schatt, P., Picard, A., Callebaut, I., Perret, E., Geneviere, A. M.
|
|
<strong>A new subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs.</strong>
|
|
Biochem. Biophys. Res. Commun. 279: 832-837, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11162436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11162436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11162436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.2000.4042" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Novakova2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Novakova, M., Hampl, M., Vrabel, D., Prochazka, J., Petrezselyova, S., Prochazkova, M., Sedlacek, R., Kavkova, M., Zikmund, T., Kaiser, J., Juan, H. C., Fann, M. J., Buchtova, M., Kohoutek, J.
|
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<strong>Mouse model of congenital heart defects, dysmorphic facial features and intellectual developmental disorders as a result of non-functional CDK13.</strong>
|
|
Front. Cell Dev. Biol. 7: 155, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31440507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31440507</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31440507[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=31440507" 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/10.3389/fcell.2019.00155" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Sifrim2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Al Turki, S. H., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., and 63 others.
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<strong>Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.</strong>
|
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Nature Genet. 48: 1060-1065, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27479907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27479907</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27479907[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=27479907" 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.3627" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 06/12/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 02/15/2024<br>Bao Lige - updated : 06/29/2023<br>Cassandra L. Kniffin - updated : 02/01/2018<br>Cassandra L. Kniffin - updated : 02/23/2017<br>Patricia A. Hartz - updated : 11/5/2013<br>Matthew B. Gross - updated : 6/29/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 11/23/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 06/12/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/15/2024<br>mgross : 06/29/2023<br>carol : 02/02/2018<br>ckniffin : 02/01/2018<br>carol : 08/03/2017<br>carol : 02/24/2017<br>ckniffin : 02/23/2017<br>mgross : 11/20/2013<br>mgross : 11/20/2013<br>mcolton : 11/5/2013<br>mgross : 6/29/2012<br>carol : 6/21/2012<br>mgross : 1/18/2000<br>alopez : 11/23/1998
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603309
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CYCLIN-DEPENDENT KINASE 13; CDK13
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
CELL DIVISION CYCLE 2-LIKE 5; CDC2L5<br />
|
|
CELL DIVISION CONTROLLER, CHOLINESTERASE-RELATED; CHED<br />
|
|
KIAA0904
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: CDK13</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
|
Cytogenetic location: 7p14.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 7:39,950,256-40,099,580 </span>
|
|
</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
7p14.1
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
617360
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CDK13 forms a complex with cyclin K (CCNK; 603544) and is predicted to have a role in gene regulation (Blazek et al., 2011). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lapidot-Lifson et al. (1992) cloned a glioblastoma cDNA encoding a protein related to the S. pombe cdc2 kinase. They designated the predicted 418-amino acid protein CHED, for cholinesterase-related cell division controller. The CHED protein shares 34 to 42% sequence identity with human CDC2 (116940), S. cerevisiae Cdc28, and S. pombe Cdc2, 3 functionally interchangeable proteins. Northern blot analysis revealed that CHED is expressed as 2.2- to 2.3-kb mRNAs in several fetal tissues and tumor cell lines. </p><p>Marques et al. (2000) cloned full-length CDC2L5 from sea urchin and human. The full-length human protein contains 1,512 amino acids. Both human and sea urchin CDC2L5 contain a conserved kinase domain surrounded by N and C termini of more than 400 amino acids, and they belong to a subfamily of high molecular mass CDC2-related kinases with PITAI/VRE motifs. Northern blot analysis detected Cdc2l5 during sea urchin early embryogenesis. In human, CDC2L5 showed ubiquitous expression, with higher levels in liver and placenta. The authors identified a putative CDC2L5 splice variant encoding an isoform of 1,452 amino acids that showed a similar expression pattern as full-length CDC2L5. Immunofluorescence assays detected CDC2L5 protein in nuclei of transfected HEK 293 cells. </p><p>By Western blot analysis, Novakova et al. (2019) showed that Cdk13 was expressed in multiple embryonic mouse organs, with highest expression in brain, followed by lung, kidney, and heart. In adult mice, Cdk13 was strongly expressed in retina, testis, ovary, uterus, and gall bladder, with lower expression in urinary bladder. </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>Using an antisense oligonucleotide, Lapidot-Lifson et al. (1992) found that reduced CHED expression selectively inhibited megakaryocyte development in murine bone marrow cultures but did not prevent other hematopoietic pathways. Antisense mRNA inhibition of BCHE (177400) expression had a similar effect. The authors suggested that CHED and BCHE are interrelated components responsive to cholinergic signals in the hematopoietic pathway. They stated that a link between cholinergic signaling and cell division might be mediated through individual CDC proteins in a cell lineage-specific manner. </p><p>Using mass spectrometric techniques and reciprocal immunoprecipitation analysis with HEK293 cells, Blazek et al. (2011) found that CYCK interacted with CDK12 (615514) and CDK13 in separate protein complexes. Microarray and RT-PCR analyses showed that knockdown of CYCK or CDK12, but not CDK13, altered expression of long complex genes and induced DNA damage and cell-cycle checkpoint. Blazek et al. (2011) concluded that the CYCK-CDK12 and CYCK-CDK13 complexes have unique functions in gene regulation. </p><p>Using database analysis and experimental approaches, Insco et al. (2023) showed that CDK13 had properties consistent with a tumor suppressor. CDK13 mutations in melanoma (see 155600), especially those in the kinase domain, abrogated its kinase activity and produced dominant-negative activity over wildtype CDK13. CDK13 mutations associated with melanoma caused accumulation of prematurely terminated RNAs (ptRNAs) generated from existing cleavage and polyadenylation sites found in intronic DNA. ptRNAs accumulated posttranscriptionally due to loss of degradation by the nuclear exosome in CDK13 mutant cells. Rather than being degraded, ptRNAs were exported to the cytoplasm, where they, including their intronic sequences, were translated into truncated proteins. Mutant CDK13 expression caused inefficient recruitment of the PAXT complex, which degrades ptRNAs, leading to disruption of the polyA RNA exosome and stabilization of ptRNAs. Database analysis and studies with a zebrafish model confirmed that ptRNA accumulation is oncogenic. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Marques et al. (2000) determined that the CDK13 gene contains 14 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2012) mapped the CDK13 gene to chromosome 7p14.1 based on an alignment of the CDK13 sequence (GenBank AJ297709) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 7 unrelated children with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; 617360), Sifrim et al. (2016) identified heterozygous missense mutations in the CDK13 gene (603309.0001-603309.0004). Six of the mutations were proven to have occurred de novo; paternal DNA from the seventh patient was not available, but his mother did not carry the variant. Four patients carried the same mutation (N842S; 603309.0001). All mutations occurred in the highly conserved protein kinase domain, and molecular modeling predicted that the mutations would impair ATP binding, binding of the magnesium ion essential for enzyme activity, or interactions with cyclin K (603544). Six of the patients were ascertained from a cohort of 518 trios in which a child with syndromic congenital heart defects underwent exome sequencing; the seventh patient was 1 of 86 singleton cases. Statistical analysis indicated that de novo missense mutations in the CDK13 gene were significantly enriched in patients compared to those expected under a null mutational model (p = 2.26 x 10(-12), Bonferroni-corrected p = 0.05). Functional studies of the variants and studies of patient cells were not performed. </p><p>In 9 patients with CHDFIDD, Bostwick et al. (2017) identified heterozygous pathogenic variants in the CDK13 gene. Two patients had novel CDK13 missense mutations (e.g., N842D; 603309.0005), while the other 7 had the previously identified recurrent variant N842S (603309.0001). The authors also reviewed 20 previously reported patients with CDK13 pathogenic variants. Of the total of 29 patients with CDK13 pathogenic variants, mutations in 27 were de novo and in 2 were of unknown inheritance due to parental samples being unavailable. All variants were missense mutations predicted to impact the protein kinase domain, with clustering in the ATP-binding and magnesium binding sites. More than half (15/29) affected asparagine-842, (14 patients with N842S, 603309.0001 and 1 patient with N842D, 603309.0005), suggesting its importance in magnesium binding. The authors noted that the clustering of missense mutations within a single protein domain and the lack of loss-of-function variants is consistent with a possible gain-of-function mechanism. </p><p>Hamilton et al. (2018) reported 9 additional unrelated patients with CHDFIDD associated with de novo heterozygous mutations in the CDK13 gene that were identified by whole-exome sequencing (see, e.g., 603309.0001-603309.0002; 603309.0005-603309.0006). Aside from 1 patient with a splice site mutation, all mutations were missense substitution affecting highly conserved residues. All mutations, including the splice site mutation, occurred within the protein kinase domain, and none were found in the gnomAD database. Molecular modeling and structural analysis indicated that all the missense variants would cause changes to bonding and/or structure that would likely lead to significant loss of catalytic activity. Hamilton et al. (2018) postulated a dominant-negative effect wherein the mutant missense variants would sequester cyclin K into inactive complexes or compete with active complexes for binding to substrates. In vitro functional expression studies of the variants were not performed. </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>Novakova et al. (2019) generated mice with Cdk13 deficiency due to homozygosity for a Cdk13 hypomorphic mutation within intron 2 that resulted in residual expression of a truncated protein. Homozygous mutant mice underwent embryonic lethality starting from embryonic day-14.5 (E14.5), with total lethality before E16.5. Compared with wildtype, mutant embryos displayed growth retardation and developmental delay, with improper development of multiple organs, especially heart. Lethality appeared to be caused by heart failure. Mice homozygous for a Cdk13 mutation causing deletion of exons 3 and 4 and no residual expression had a more severe phenotype and earlier lethality with developmental delay. </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">
|
|
<strong>.0001 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER</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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CDK13, ASN842SER
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<br />
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SNP: rs878853160,
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ClinVar: RCV000417211, RCV000498452, RCV000622786, RCV000850464, RCV001526523
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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 3 unrelated children with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; 617360), Sifrim et al. (2016) identified a de novo heterozygous c.2525A-G transition (c.2525A-G, NM_031267.3) in the CDK13 gene, resulting in an asn842-to-ser (N842S) substitution in the highly conserved protein kinase domain. A fourth patient with the disorder also carried this heterozygous variant: paternal DNA was not available, but his mother did not carry the variant. </p><p>In 7 patients with CHDFIDD, Bostwick et al. (2017) identified a heterozygous N842S mutation. The mutation occurred de novo in all except 1, in whom inheritance was unknown due to parental samples being unavailable. </p><p>Hamilton et al. (2018) identified a de novo heterozygous N842S mutation in a patient (patient 11) with CHDFIDD. Functional studies of the variant and studies of patient cells were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER</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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CDK13, GLY717ARG
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<br />
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SNP: rs1057519632,
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ClinVar: RCV000417213, RCV000489190, RCV000622659, RCV001527382
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 7.8-year-old boy with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; 617360), Sifrim et al. (2016) identified a de novo heterozygous c.2149G-A transition (c.2149G-A, NM_031267.3) in the CDK13 gene, resulting in a gly717-to-arg (G717R) substitution in the highly conserved protein kinase domain. </p><p>Hamilton et al. (2018) identified a de novo heterozygous G717R mutation in a patient (patient 3) with CHDFIDD. The patient was mosaic for the mutation. Functional studies of the variant were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER</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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CDK13, GLY714ARG
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<br />
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SNP: rs1057519633,
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ClinVar: RCV000417209
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 5-year-old girl with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; 617360), Sifrim et al. (2016) identified a de novo heterozygous c.2140G-C transversion (c.2140G-C, NM_031267.3) in the CDK13 gene, resulting in a gly714-to-arg (G714R) substitution in the highly conserved protein kinase domain. </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 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER</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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CDK13, ARG751GLN
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<br />
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SNP: rs1057519634,
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ClinVar: RCV000417212, RCV003558374
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 12-year-old girl with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; 617360), Sifrim et al. (2016) identified a de novo heterozygous c.2252G-A transition (c.2252G-A, NM_031267.3) in the CDK13 gene, resulting in an arg751-to-gln (R751Q) substitution in the highly conserved protein kinase domain. </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>.0005 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER</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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CDK13, ASN842ASP
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<br />
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SNP: rs1554333853,
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ClinVar: RCV000625958, RCV001383184
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 2-year-old girl (patient 1001) with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; 617360), Bostwick et al. (2017) identified a heterozygous de novo c.2524A-G transversion in the CDK13 gene that resulted in an asn842-to-asp (N842D) substitution. </p><p>In a 10-year-old girl (patient 12) with CHDFIDD, Hamilton et al. (2018) identified a de novo heterozygous mutation in the CDK13 gene, resulting in an asn842-to-asp (N842D) substitution at a highly conserved residue in the protein kinase domain. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER</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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CDK13, VAL874LEU
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<br />
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ClinVar: RCV000578219
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an 8-year-old girl (patient 14) with congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD; 617360), Hamilton et al. (2018) identified a de novo heterozygous mutation in the CDK13 gene, resulting in a val874-to-leu (V874L) substitution at a highly conserved residue in the activation loop within the protein kinase domain. The mutation was found by exome sequencing. Functional studies of the variant and studies of patient cells were not performed, but molecular modeling predicted that the variant would result in altered catalytic function with a dominant-negative effect. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Blazek, D., Kohoutek, J., Bartholomeeusen, K., Johansen, E., Hulinkova, P., Luo, Z., Cimermancic, P., Ule, J., Peterlin, B. M.
|
|
<strong>The cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes.</strong>
|
|
Genes Dev. 25: 2158-2172, 2011.
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[PubMed: 22012619]
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[Full Text: https://doi.org/10.1101/gad.16962311]
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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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Bostwick, B. L., McLean, S., Posey, J. E., Streff, H. E., Gripp, K. W., Blesson, A., Powell-Hamilton, N., Tusi, J., Stevenson, D. A., Farrelly, E., Hudgins, L., Yang, Y., and 21 others.
|
|
<strong>Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.</strong>
|
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Genome Med. 9: 73, 2017.
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