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<title>
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Entry
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- *609173 - KINETOCHORE SCAFFOLD 1; KNL1
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- OMIM
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<p>
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<span class="h4">*609173</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/609173">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<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=ENSG00000137812;t=ENST00000399668" 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=57082" 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=609173" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000137812;t=ENST00000399668" 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_144508,NM_170589" 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_144508" 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=609173" 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=10634&isoform_id=10634_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/KNL1" 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/9716488,10047205,18308012,21280444,21912964,116283489,119612835,119612836,223590239,444299649,444299651,2462545230" 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/Q8NG31" 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=57082" 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=ENSG00000137812;t=ENST00000399668" 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=KNL1" 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=KNL1" 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+57082" 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/KNL1" 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:57082" 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/57082" 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=chr15&hgg_gene=ENST00000399668.7&hgg_start=40594249&hgg_end=40664342&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<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">
|
|
<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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609173[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=609173[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/KNL1/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/ENSG00000137812" 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=KNL1" 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=KNL1" 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=KNL1" 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=KNL1&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/PA142672201" 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">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<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:24054" 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://www.mousephenotype.org/data/genes/MGI:1923714" 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/KNL1#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:1923714" 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/57082/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=57082" 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://zfin.org/ZDB-GENE-030131-5437" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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>
|
|
</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57082" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=KNL1&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>
|
|
<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>
|
|
609173
|
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</span>
|
|
</span>
|
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</div>
|
|
</div>
|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
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KINETOCHORE SCAFFOLD 1; KNL1
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|
|
</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CASC5 GENE; CASC5<br />
|
|
ALL1-FUSED GENE FROM CHROMOSOME 15q14; AF15Q14<br />
|
|
KIAA1570<br />
|
|
D40
|
|
</span>
|
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</h4>
|
|
</div>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
AF15Q14/ALL1 FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
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|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KNL1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KNL1</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
|
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|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/102?start=-3&limit=10&highlight=102">15q15.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:40594249-40664342&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'})">15:40,594,249-40,664,342</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/102?start=-3&limit=10&highlight=102">
|
|
15q15.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Microcephaly 4, primary, autosomal recessive
|
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PheneGene Graphics <span class="caret"></span>
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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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<p>The CASC5 gene encodes a protein that localizes to the kinetochore and performs 2 functions during mitosis: it is required for correct attachment of centromeres to the microtubule apparatus and is essential for spindle-assembly checkpoint signaling (summary by <a href="#2" class="mim-tip-reference" title="Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M. <strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong> Hum. Molec. Genet. 21: 5306-5317, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22983954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22983954</a>] [<a href="https://doi.org/10.1093/hmg/dds386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22983954">Genin et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22983954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#6" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 273-281, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>] [<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10997877">Nagase et al. (2000)</a> cloned KIAA1570. RT-PCR detected highest expression in adult testis, adult kidney, and fetal liver. Lower expression was detected in adult ovary and fetal brain, and little to no expression was detected in all other adult tissues and specific brain regions examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" 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 screening a HeLa cell cDNA library with a probe derived from an ALL1 (<a href="/entry/159555">159555</a>) fusion partner, followed by screening a testis cDNA library and 5-prime and 3-prime RACE, <a href="#3" class="mim-tip-reference" title="Hayette, S., Tigaud, I., Vanier, A., Martel, S., Corbo, L., Charrin, C., Beillard, E., Deleage, G., Magaud, J. P., Rimokh, R. <strong>AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).</strong> Oncogene 19: 4446-4450, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980622</a>] [<a href="https://doi.org/10.1038/sj.onc.1203789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980622">Hayette et al. (2000)</a> cloned AF15q14. The deduced 1,833-amino acid protein has a calculated molecular mass of 206 kD. AF15q14 contains a C-terminal bipartite nuclear localization signal. Northern blot analysis of HeLa cells detected a transcript of about 8.5 kb. RNA dot blot analysis of adult tissues found AF15q14 expression restricted to thymus, testis, and bone marrow. Expression was ubiquitous in fetal tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980622" 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 the transcription factor GCF (TCF9; <a href="/entry/189901">189901</a>) as bait in a yeast 2-hybrid screen of a human B-cell line, followed by RACE, <a href="#9" class="mim-tip-reference" title="Takimoto, M., Wei, G., Dosaka-Akita, H., Mao, P., Kondo, S., Sakuragi, N., Chiba, I., Miura, T., Itoh, N., Sasao, T., Koya, R. C., Tsukamoto, T., Fujimoto, S., Katoh, H., Kuzumaki, N. <strong>Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers.</strong> Brit. J. Cancer 86: 1757-1762, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12087463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12087463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12087463[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/sj.bjc.6600328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12087463">Takimoto et al. (2002)</a> cloned D40. Northern blot analysis of several human tissues detected a major 8.5-kb transcript and a minor 7.0-kb transcript. Expression was highest in testis, lower in placenta, and very low or undetectable in all other tissues tested. <a href="#9" class="mim-tip-reference" title="Takimoto, M., Wei, G., Dosaka-Akita, H., Mao, P., Kondo, S., Sakuragi, N., Chiba, I., Miura, T., Itoh, N., Sasao, T., Koya, R. C., Tsukamoto, T., Fujimoto, S., Katoh, H., Kuzumaki, N. <strong>Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers.</strong> Brit. J. Cancer 86: 1757-1762, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12087463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12087463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12087463[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/sj.bjc.6600328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12087463">Takimoto et al. (2002)</a> found D40 expression in several primary tumors and tumor cell lines. Expression did not correlate with either histologic type or pathologic tumor stage. However, D40 expression was observed more frequently in poorly differentiated tumors than in well or moderately differentiated ones, and D40 expression was higher in primary lung tumors from patients who smoked than in those from nonsmokers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12087463" 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 screening testis and thymus cDNA libraries and by 5-prime RACE, <a href="#5" class="mim-tip-reference" title="Kuefer, M. U., Chinwalla, V., Zeleznik-Le, N. J., Behm, F. G., Naeve, C. W., Rakestraw, K. M., Mukatira, S. T., Raimondi, S. C., Morris, S. W. <strong>Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).</strong> Oncogene 22: 1418-1424, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618768</a>] [<a href="https://doi.org/10.1038/sj.onc.1206272" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618768">Kuefer et al. (2003)</a> cloned AF15q14. The deduced 2,342-amino acid protein has a calculated molecular mass of 265.3 kD. Northern blot analysis detected AF15q14 transcripts of about 9.5 and 7.5 kb that were abundantly expressed in testis and thymus, with low levels in placenta. Abundant expression was also detected in fetal liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618768" 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 immunoprecipitation, <a href="#7" class="mim-tip-reference" title="Obuse, C., Iwasaki, O., Kiyomitsu, T., Goshima, G., Toyoda, Y., Yanagida, M. <strong>A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1.</strong> Nature Cell Biol. 6: 1135-1141, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502821</a>] [<a href="https://doi.org/10.1038/ncb1187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502821">Obuse et al. (2004)</a> identified 9 proteins, including KIAA1570, that interacted with MIS12 (<a href="/entry/609178">609178</a>) following overexpression of MIS12 in HeLa cells. The deduced 2,342-amino acid KIAA1570 protein has both N- and C-terminal coiled-coil domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By reciprocal immunoprecipitation of transfected proteins from HeLa cells, <a href="#7" class="mim-tip-reference" title="Obuse, C., Iwasaki, O., Kiyomitsu, T., Goshima, G., Toyoda, Y., Yanagida, M. <strong>A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1.</strong> Nature Cell Biol. 6: 1135-1141, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502821</a>] [<a href="https://doi.org/10.1038/ncb1187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15502821">Obuse et al. (2004)</a> showed that KIAA1570 is part of a centromere complex that includes C20ORF172 (<a href="/entry/609175">609175</a>), DC8 (<a href="/entry/609174">609174</a>), MIS12, PMF1 (<a href="/entry/609176">609176</a>), and HP1-gamma (CBX3; <a href="/entry/604477">604477</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Kuefer, M. U., Chinwalla, V., Zeleznik-Le, N. J., Behm, F. G., Naeve, C. W., Rakestraw, K. M., Mukatira, S. T., Raimondi, S. C., Morris, S. W. <strong>Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).</strong> Oncogene 22: 1418-1424, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618768</a>] [<a href="https://doi.org/10.1038/sj.onc.1206272" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618768">Kuefer et al. (2003)</a> determined that the AF15q14 gene contains at least 27 exons and spans at least 68.3 kb. The first exon is noncoding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By FISH, <a href="#10" class="mim-tip-reference" title="Wei, G., Takimoto, M., Yoshida, I., Mao, P., Koya, R. C., Miura, T., Kuzumaki, N. <strong>Chromosomal assignment of a novel human gene D40.</strong> Nucleic Acids Symp. Ser. 42: 71-72, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10780384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10780384</a>] [<a href="https://doi.org/10.1093/nass/42.1.71" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10780384">Wei et al. (1999)</a> mapped the D40 gene to chromosome 15q14-q15. By sequence analysis, <a href="#3" class="mim-tip-reference" title="Hayette, S., Tigaud, I., Vanier, A., Martel, S., Corbo, L., Charrin, C., Beillard, E., Deleage, G., Magaud, J. P., Rimokh, R. <strong>AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).</strong> Oncogene 19: 4446-4450, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980622</a>] [<a href="https://doi.org/10.1038/sj.onc.1203789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980622">Hayette et al. (2000)</a> mapped the AF15q14 gene to chromosome 15q14. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10780384+10980622" 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="Hayette, S., Tigaud, I., Vanier, A., Martel, S., Corbo, L., Charrin, C., Beillard, E., Deleage, G., Magaud, J. P., Rimokh, R. <strong>AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).</strong> Oncogene 19: 4446-4450, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980622</a>] [<a href="https://doi.org/10.1038/sj.onc.1203789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980622">Hayette et al. (2000)</a> described a 48-year-old man with AML-M4 (see <a href="/entry/601626">601626</a>) who was cytogenetically characterized as 46,XY,-3,t(11;15)(q23;q14),+mar. The bone marrow was hypercellular, with 80% blast cells. The patient was treated by intensive chemotherapy and died 4 month after diagnosis. The translocation resulted in a in-frame fusion between exon 8 of the MLL gene and exon 10 of the AF15q14 gene. The fusion transcript was predicted to encode a 1,503-amino acid protein composed of 1,418 N-terminal amino acids of MLL and 85 C-terminal amino acids of AF15q14, including the bipartite nuclear localization signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kuefer, M. U., Chinwalla, V., Zeleznik-Le, N. J., Behm, F. G., Naeve, C. W., Rakestraw, K. M., Mukatira, S. T., Raimondi, S. C., Morris, S. W. <strong>Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).</strong> Oncogene 22: 1418-1424, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618768</a>] [<a href="https://doi.org/10.1038/sj.onc.1206272" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618768">Kuefer et al. (2003)</a> identified a similar t(11;15)(q23;q14) in a 3-year-old boy with de novo T-cell acute lymphoblastic leukemia. In this translocation, exon 9 of the MLL gene was fused in-frame to exon 12 of the AF15q14 gene. The deduced 1,886-amino acid fusion protein, which contains the N terminus of MLL up to lys1362 fused to the entire C terminus of AF15q14 starting from residue ile1819, has a calculated molecular mass of 208 kD. It differs from the fusion protein described by <a href="#3" class="mim-tip-reference" title="Hayette, S., Tigaud, I., Vanier, A., Martel, S., Corbo, L., Charrin, C., Beillard, E., Deleage, G., Magaud, J. P., Rimokh, R. <strong>AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).</strong> Oncogene 19: 4446-4450, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980622</a>] [<a href="https://doi.org/10.1038/sj.onc.1203789" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980622">Hayette et al. (2000)</a> in that it has a coiled-coil domain but no nuclear localization signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12618768+10980622" 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 an 11-year-old boy with acute myoblastic leukemia (AML-M2) and a translocation t(11;15)(q23;q14), <a href="#1" class="mim-tip-reference" title="Chinwalla, V., Chien, A., Odero, M., Neilly, M. B., Zeleznik-Le, N. J., Rowley, J. D. <strong>A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15.</strong> Oncogene 22: 1400-1410, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618766</a>] [<a href="https://doi.org/10.1038/sj.onc.1206273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12618766">Chinwalla et al. (2003)</a> identified MLL-AF15q14 and MLL-MPFYVE (<a href="/entry/619635">619635</a>) fusion transcripts. Both fusion transcripts were in-frame and had the potential to encode novel fusion proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618766" 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 affected members of 3 consanguineous Moroccan families with autosomal recessive primary microcephaly-4 (MCPH4; <a href="/entry/604321">604321</a>), including the family originally reported by <a href="#4" class="mim-tip-reference" title="Jamieson, C. R., Govaerts, C., Abramowicz, M. J. <strong>Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. (Letter)</strong> Am. J. Hum. Genet. 65: 1465-1469, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521316[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/10.1086/302640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521316">Jamieson et al. (1999)</a>, <a href="#2" class="mim-tip-reference" title="Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M. <strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong> Hum. Molec. Genet. 21: 5306-5317, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22983954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22983954</a>] [<a href="https://doi.org/10.1093/hmg/dds386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22983954">Genin et al. (2012)</a> identified a homozygous mutation in the CASC5 gene (M2041I; <a href="#0001">609173.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22983954+10521316" 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 affected members of a consanguineous Algerian family with primary microcephaly, <a href="#8" class="mim-tip-reference" title="Saadi, A., Verny, F., Siquier-Pernet, K., Bole-Feysot, C., Nitschke, P., Munnich, A., Abada-Dendib, M., Chaouch, M., Abramowicz, M., Colleaux, L. <strong>Refining the phenotype associated with CASC5 mutation.</strong> Neurogenetics 17: 71-78, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26626498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26626498</a>] [<a href="https://doi.org/10.1007/s10048-015-0468-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26626498">Saadi et al. (2016)</a> identified homozygosity for the same M2041I mutation in the CASC5 gene that had been identified by <a href="#2" class="mim-tip-reference" title="Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M. <strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong> Hum. Molec. Genet. 21: 5306-5317, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22983954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22983954</a>] [<a href="https://doi.org/10.1093/hmg/dds386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22983954">Genin et al. (2012)</a> in Moroccan families. Haplotype analysis supported the existence of a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26626498+22983954" 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 an African American male infant with primary microcephaly, <a href="#11" class="mim-tip-reference" title="Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H. <strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong> Am. J. Med. Genet. 170A: 2215-2218, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27149178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27149178</a>] [<a href="https://doi.org/10.1002/ajmg.a.37726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27149178">Zarate et al. (2016)</a> identified compound heterozygosity for a de novo frameshift (<a href="#0002">609173.0002</a>) mutation and a maternally inherited missense mutation (D2187G; <a href="#0003">609173.0003</a>) in the CASC5 gene. (In the article, <a href="#11" class="mim-tip-reference" title="Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H. <strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong> Am. J. Med. Genet. 170A: 2215-2218, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27149178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27149178</a>] [<a href="https://doi.org/10.1002/ajmg.a.37726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27149178">Zarate et al. (2016)</a> incorrectly stated the protein change as D2178G.) The frameshift mutation was not found in the dbSNP, Exome Variant Server, or ExAC databases; the missense mutation was present in the ExAC database at a low frequency in the general population, but primarily in patients of African ancestry, with a heterozygous minor allele frequency of 0.0034 in that population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27149178" 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 affected members of 3 consanguineous Moroccan families with autosomal recessive primary microcephaly-4 (MCPH4; <a href="/entry/604321">604321</a>), including the family originally reported by <a href="#4" class="mim-tip-reference" title="Jamieson, C. R., Govaerts, C., Abramowicz, M. J. <strong>Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. (Letter)</strong> Am. J. Hum. Genet. 65: 1465-1469, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521316[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/10.1086/302640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521316">Jamieson et al. (1999)</a>, <a href="#2" class="mim-tip-reference" title="Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M. <strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong> Hum. Molec. Genet. 21: 5306-5317, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22983954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22983954</a>] [<a href="https://doi.org/10.1093/hmg/dds386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22983954">Genin et al. (2012)</a> identified a homozygous 6125G-A transition in exon 18 of the CASC5 gene, resulting in a met2041-to-ile (M2041I) substitution at a highly conserved residue. The mutation was not found in 316 control chromosomes or among 9,500 control exomes. The mutation was predicted to inactivate an exonic splicing enhancer, and was demonstrated to result in abnormal splicing and production of a transcript lacking exon 18 and causing premature termination. However, normal CASC5 protein levels were also found in patient lymphoblastoid cells. Patient lymphoblasts showed no abnormalities in mitosis, no changes in growth rate, and no micronuclei. Immunofluorescence studies showed no defects of CASC5 expression in patient fibroblasts, and mitotic spindles were normal. None of the patients developed leukemia, consistent with normal CASC5 function in nonneurologic cells. Although this mutant CASC5 appeared to function normally in patient lymphoblasts and fibroblasts, <a href="#2" class="mim-tip-reference" title="Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M. <strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong> Hum. Molec. Genet. 21: 5306-5317, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22983954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22983954</a>] [<a href="https://doi.org/10.1093/hmg/dds386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22983954">Genin et al. (2012)</a> speculated that it may express the defect only in neural cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22983954+10521316" 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 affected members of a consanguineous Algerian family with primary microcephaly, <a href="#8" class="mim-tip-reference" title="Saadi, A., Verny, F., Siquier-Pernet, K., Bole-Feysot, C., Nitschke, P., Munnich, A., Abada-Dendib, M., Chaouch, M., Abramowicz, M., Colleaux, L. <strong>Refining the phenotype associated with CASC5 mutation.</strong> Neurogenetics 17: 71-78, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26626498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26626498</a>] [<a href="https://doi.org/10.1007/s10048-015-0468-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26626498">Saadi et al. (2016)</a> identified homozygosity for the M2041I mutation in the CASC5 gene. Haplotype analysis supported the existence of a common ancestor in the Algerian family and the Moroccan families reported by <a href="#2" class="mim-tip-reference" title="Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M. <strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong> Hum. Molec. Genet. 21: 5306-5317, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22983954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22983954</a>] [<a href="https://doi.org/10.1093/hmg/dds386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22983954">Genin et al. (2012)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26626498+22983954" 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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KNL1, 1-BP DUP, 5262T (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000256234.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000256234.1</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863225127 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225127;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=rs863225127" 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=rs863225127" 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=RCV000201695" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201695" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201695</a>
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<p>In an African American male infant with primary microcephaly (MCPH4; <a href="/entry/604321">604321</a>), <a href="#11" class="mim-tip-reference" title="Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H. <strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong> Am. J. Med. Genet. 170A: 2215-2218, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27149178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27149178</a>] [<a href="https://doi.org/10.1002/ajmg.a.37726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27149178">Zarate et al. (2016)</a> identified compound heterozygosity for 2 mutations in the CASC5 gene: a de novo duplication (c.5262dupT, NM_170589.4), resulting in a frameshift and premature termination (Ile1755TyrfsTer2), and a maternally inherited c.6560A-G transition, resulting in an asp2187-to-gly (D2187G; <a href="#0003">609173.0003</a>) substitution. (In the article, <a href="#11" class="mim-tip-reference" title="Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H. <strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong> Am. J. Med. Genet. 170A: 2215-2218, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27149178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27149178</a>] [<a href="https://doi.org/10.1002/ajmg.a.37726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27149178">Zarate et al. (2016)</a> incorrectly stated the protein change as asp2178-to-gly.) The frameshift mutation was not found in the dbSNP, Exome Variant Server, or ExAC databases; the D2187G mutation was present in the ExAC database at a low frequency in the general population, but primarily in patients of African ancestry, with a heterozygous minor allele frequency of 0.0034 in that population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27149178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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KNL1, ASP2187GLY (<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=SCV000256235.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ClinVar\', \'domain\': \'ncbi.nlm.nih.gov\'})">SCV000256235.1</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs142872154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs142872154;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs142872154?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs142872154" 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=rs142872154" 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=RCV000194949 OR RCV000201551 OR RCV000960686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000194949, RCV000201551, RCV000960686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000194949...</a>
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<p>For discussion of the c.6560A-G transition (c.6560A-G, NM_170589.4) in the CASC5 gene, resulting in an asp2187-to-gly (D2187G) substitution, that was found in compound heterozygous state in an African American male infant with primary microcephaly (MCPH4; <a href="/entry/604321">604321</a>) by <a href="#11" class="mim-tip-reference" title="Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H. <strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong> Am. J. Med. Genet. 170A: 2215-2218, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27149178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27149178</a>] [<a href="https://doi.org/10.1002/ajmg.a.37726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27149178">Zarate et al. (2016)</a>, see <a href="#0002">609173.0002</a>. (In the article, <a href="#11" class="mim-tip-reference" title="Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H. <strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong> Am. J. Med. Genet. 170A: 2215-2218, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27149178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27149178</a>] [<a href="https://doi.org/10.1002/ajmg.a.37726" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27149178">Zarate et al. (2016)</a> incorrectly stated the protein change as asp2178-to-gly.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27149178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chinwalla2003" class="mim-anchor"></a>
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Chinwalla, V., Chien, A., Odero, M., Neilly, M. B., Zeleznik-Le, N. J., Rowley, J. D.
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<strong>A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15.</strong>
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Oncogene 22: 1400-1410, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618766" 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/sj.onc.1206273" target="_blank">Full Text</a>]
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Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M.
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<strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong>
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Hum. Molec. Genet. 21: 5306-5317, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22983954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22983954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22983954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds386" target="_blank">Full Text</a>]
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Hayette, S., Tigaud, I., Vanier, A., Martel, S., Corbo, L., Charrin, C., Beillard, E., Deleage, G., Magaud, J. P., Rimokh, R.
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<strong>AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).</strong>
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Oncogene 19: 4446-4450, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980622" 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/sj.onc.1203789" target="_blank">Full Text</a>]
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Jamieson, C. R., Govaerts, C., Abramowicz, M. J.
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<strong>Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521316</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521316[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=10521316" 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/10.1086/302640" target="_blank">Full Text</a>]
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Kuefer, M. U., Chinwalla, V., Zeleznik-Le, N. J., Behm, F. G., Naeve, C. W., Rakestraw, K. M., Mukatira, S. T., Raimondi, S. C., Morris, S. W.
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<strong>Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12618768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12618768</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12618768" 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/sj.onc.1206272" target="_blank">Full Text</a>]
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Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10997877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10997877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10997877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/7.4.271" target="_blank">Full Text</a>]
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Obuse, C., Iwasaki, O., Kiyomitsu, T., Goshima, G., Toyoda, Y., Yanagida, M.
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<strong>A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1.</strong>
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Nature Cell Biol. 6: 1135-1141, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15502821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15502821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15502821" 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/ncb1187" target="_blank">Full Text</a>]
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Saadi, A., Verny, F., Siquier-Pernet, K., Bole-Feysot, C., Nitschke, P., Munnich, A., Abada-Dendib, M., Chaouch, M., Abramowicz, M., Colleaux, L.
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<strong>Refining the phenotype associated with CASC5 mutation.</strong>
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Neurogenetics 17: 71-78, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26626498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26626498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26626498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Takimoto2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takimoto, M., Wei, G., Dosaka-Akita, H., Mao, P., Kondo, S., Sakuragi, N., Chiba, I., Miura, T., Itoh, N., Sasao, T., Koya, R. C., Tsukamoto, T., Fujimoto, S., Katoh, H., Kuzumaki, N.
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<strong>Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers.</strong>
|
|
Brit. J. Cancer 86: 1757-1762, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12087463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12087463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12087463[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=12087463" 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/sj.bjc.6600328" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Wei1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wei, G., Takimoto, M., Yoshida, I., Mao, P., Koya, R. C., Miura, T., Kuzumaki, N.
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<strong>Chromosomal assignment of a novel human gene D40.</strong>
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Nucleic Acids Symp. Ser. 42: 71-72, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10780384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10780384</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10780384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nass/42.1.71" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Zarate2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H.
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<strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong>
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Am. J. Med. Genet. 170A: 2215-2218, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27149178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27149178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27149178" 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/10.1002/ajmg.a.37726" 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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<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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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 : 11/23/2021
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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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Joanna S. Amberger - updated : 02/19/2018<br>Cassandra L. Kniffin - updated : 10/18/2012
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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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Patricia A. Hartz : 1/27/2005
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/05/2024
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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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mgross : 11/23/2021<br>carol : 02/20/2018<br>carol : 02/19/2018<br>carol : 06/01/2017<br>carol : 05/09/2016<br>carol : 5/7/2016<br>carol : 9/25/2013<br>terry : 12/20/2012<br>carol : 10/22/2012<br>ckniffin : 10/18/2012<br>carol : 7/1/2009<br>mgross : 1/27/2005
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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 class="container visible-print-block">
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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> 609173
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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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KINETOCHORE SCAFFOLD 1; KNL1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CASC5 GENE; CASC5<br />
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ALL1-FUSED GENE FROM CHROMOSOME 15q14; AF15Q14<br />
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KIAA1570<br />
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D40
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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-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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AF15Q14/ALL1 FUSION GENE, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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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: KNL1</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 15q15.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:40,594,249-40,664,342 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
15q15.1
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
Microcephaly 4, primary, autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
604321
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The CASC5 gene encodes a protein that localizes to the kinetochore and performs 2 functions during mitosis: it is required for correct attachment of centromeres to the microtubule apparatus and is essential for spindle-assembly checkpoint signaling (summary by Genin et al., 2012). </p>
|
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2000) cloned KIAA1570. RT-PCR detected highest expression in adult testis, adult kidney, and fetal liver. Lower expression was detected in adult ovary and fetal brain, and little to no expression was detected in all other adult tissues and specific brain regions examined. </p><p>By screening a HeLa cell cDNA library with a probe derived from an ALL1 (159555) fusion partner, followed by screening a testis cDNA library and 5-prime and 3-prime RACE, Hayette et al. (2000) cloned AF15q14. The deduced 1,833-amino acid protein has a calculated molecular mass of 206 kD. AF15q14 contains a C-terminal bipartite nuclear localization signal. Northern blot analysis of HeLa cells detected a transcript of about 8.5 kb. RNA dot blot analysis of adult tissues found AF15q14 expression restricted to thymus, testis, and bone marrow. Expression was ubiquitous in fetal tissues. </p><p>Using the transcription factor GCF (TCF9; 189901) as bait in a yeast 2-hybrid screen of a human B-cell line, followed by RACE, Takimoto et al. (2002) cloned D40. Northern blot analysis of several human tissues detected a major 8.5-kb transcript and a minor 7.0-kb transcript. Expression was highest in testis, lower in placenta, and very low or undetectable in all other tissues tested. Takimoto et al. (2002) found D40 expression in several primary tumors and tumor cell lines. Expression did not correlate with either histologic type or pathologic tumor stage. However, D40 expression was observed more frequently in poorly differentiated tumors than in well or moderately differentiated ones, and D40 expression was higher in primary lung tumors from patients who smoked than in those from nonsmokers. </p><p>By screening testis and thymus cDNA libraries and by 5-prime RACE, Kuefer et al. (2003) cloned AF15q14. The deduced 2,342-amino acid protein has a calculated molecular mass of 265.3 kD. Northern blot analysis detected AF15q14 transcripts of about 9.5 and 7.5 kb that were abundantly expressed in testis and thymus, with low levels in placenta. Abundant expression was also detected in fetal liver. </p><p>By immunoprecipitation, Obuse et al. (2004) identified 9 proteins, including KIAA1570, that interacted with MIS12 (609178) following overexpression of MIS12 in HeLa cells. The deduced 2,342-amino acid KIAA1570 protein has both N- and C-terminal coiled-coil domains. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By reciprocal immunoprecipitation of transfected proteins from HeLa cells, Obuse et al. (2004) showed that KIAA1570 is part of a centromere complex that includes C20ORF172 (609175), DC8 (609174), MIS12, PMF1 (609176), and HP1-gamma (CBX3; 604477). </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Kuefer et al. (2003) determined that the AF15q14 gene contains at least 27 exons and spans at least 68.3 kb. The first exon is noncoding. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By FISH, Wei et al. (1999) mapped the D40 gene to chromosome 15q14-q15. By sequence analysis, Hayette et al. (2000) mapped the AF15q14 gene to chromosome 15q14. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<span class="mim-text-font">
|
|
<p>Hayette et al. (2000) described a 48-year-old man with AML-M4 (see 601626) who was cytogenetically characterized as 46,XY,-3,t(11;15)(q23;q14),+mar. The bone marrow was hypercellular, with 80% blast cells. The patient was treated by intensive chemotherapy and died 4 month after diagnosis. The translocation resulted in a in-frame fusion between exon 8 of the MLL gene and exon 10 of the AF15q14 gene. The fusion transcript was predicted to encode a 1,503-amino acid protein composed of 1,418 N-terminal amino acids of MLL and 85 C-terminal amino acids of AF15q14, including the bipartite nuclear localization signal. </p><p>Kuefer et al. (2003) identified a similar t(11;15)(q23;q14) in a 3-year-old boy with de novo T-cell acute lymphoblastic leukemia. In this translocation, exon 9 of the MLL gene was fused in-frame to exon 12 of the AF15q14 gene. The deduced 1,886-amino acid fusion protein, which contains the N terminus of MLL up to lys1362 fused to the entire C terminus of AF15q14 starting from residue ile1819, has a calculated molecular mass of 208 kD. It differs from the fusion protein described by Hayette et al. (2000) in that it has a coiled-coil domain but no nuclear localization signal. </p><p>In an 11-year-old boy with acute myoblastic leukemia (AML-M2) and a translocation t(11;15)(q23;q14), Chinwalla et al. (2003) identified MLL-AF15q14 and MLL-MPFYVE (619635) fusion transcripts. Both fusion transcripts were in-frame and had the potential to encode novel fusion proteins. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
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<p>In affected members of 3 consanguineous Moroccan families with autosomal recessive primary microcephaly-4 (MCPH4; 604321), including the family originally reported by Jamieson et al. (1999), Genin et al. (2012) identified a homozygous mutation in the CASC5 gene (M2041I; 609173.0001). </p><p>In affected members of a consanguineous Algerian family with primary microcephaly, Saadi et al. (2016) identified homozygosity for the same M2041I mutation in the CASC5 gene that had been identified by Genin et al. (2012) in Moroccan families. Haplotype analysis supported the existence of a common ancestor. </p><p>In an African American male infant with primary microcephaly, Zarate et al. (2016) identified compound heterozygosity for a de novo frameshift (609173.0002) mutation and a maternally inherited missense mutation (D2187G; 609173.0003) in the CASC5 gene. (In the article, Zarate et al. (2016) incorrectly stated the protein change as D2178G.) The frameshift mutation was not found in the dbSNP, Exome Variant Server, or ExAC databases; the missense mutation was present in the ExAC database at a low frequency in the general population, but primarily in patients of African ancestry, with a heterozygous minor allele frequency of 0.0034 in that population. </p>
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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>3 Selected Examples):</strong>
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</span>
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</h4>
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<p />
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<span class="mim-font">
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<strong>.0001 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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KNL1, MET2041ILE
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SNP: rs763915472,
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gnomAD: rs763915472,
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ClinVar: RCV000032912
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<p>In affected members of 3 consanguineous Moroccan families with autosomal recessive primary microcephaly-4 (MCPH4; 604321), including the family originally reported by Jamieson et al. (1999), Genin et al. (2012) identified a homozygous 6125G-A transition in exon 18 of the CASC5 gene, resulting in a met2041-to-ile (M2041I) substitution at a highly conserved residue. The mutation was not found in 316 control chromosomes or among 9,500 control exomes. The mutation was predicted to inactivate an exonic splicing enhancer, and was demonstrated to result in abnormal splicing and production of a transcript lacking exon 18 and causing premature termination. However, normal CASC5 protein levels were also found in patient lymphoblastoid cells. Patient lymphoblasts showed no abnormalities in mitosis, no changes in growth rate, and no micronuclei. Immunofluorescence studies showed no defects of CASC5 expression in patient fibroblasts, and mitotic spindles were normal. None of the patients developed leukemia, consistent with normal CASC5 function in nonneurologic cells. Although this mutant CASC5 appeared to function normally in patient lymphoblasts and fibroblasts, Genin et al. (2012) speculated that it may express the defect only in neural cells. </p><p>In affected members of a consanguineous Algerian family with primary microcephaly, Saadi et al. (2016) identified homozygosity for the M2041I mutation in the CASC5 gene. Haplotype analysis supported the existence of a common ancestor in the Algerian family and the Moroccan families reported by Genin et al. (2012). </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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KNL1, 1-BP DUP, 5262T ({dbSNP SCV000256234.1})
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<br />
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SNP: rs863225127,
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ClinVar: RCV000201695
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<span class="mim-text-font">
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<p>In an African American male infant with primary microcephaly (MCPH4; 604321), Zarate et al. (2016) identified compound heterozygosity for 2 mutations in the CASC5 gene: a de novo duplication (c.5262dupT, NM_170589.4), resulting in a frameshift and premature termination (Ile1755TyrfsTer2), and a maternally inherited c.6560A-G transition, resulting in an asp2187-to-gly (D2187G; 609173.0003) substitution. (In the article, Zarate et al. (2016) incorrectly stated the protein change as asp2178-to-gly.) The frameshift mutation was not found in the dbSNP, Exome Variant Server, or ExAC databases; the D2187G mutation was present in the ExAC database at a low frequency in the general population, but primarily in patients of African ancestry, with a heterozygous minor allele frequency of 0.0034 in that population. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE</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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KNL1, ASP2187GLY ({dbSNP SCV000256235.1})
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<br />
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SNP: rs142872154,
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gnomAD: rs142872154,
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ClinVar: RCV000194949, RCV000201551, RCV000960686
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<span class="mim-text-font">
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<p>For discussion of the c.6560A-G transition (c.6560A-G, NM_170589.4) in the CASC5 gene, resulting in an asp2187-to-gly (D2187G) substitution, that was found in compound heterozygous state in an African American male infant with primary microcephaly (MCPH4; 604321) by Zarate et al. (2016), see 609173.0002. (In the article, Zarate et al. (2016) incorrectly stated the protein change as asp2178-to-gly.) </p>
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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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<ol>
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<li>
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<p class="mim-text-font">
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Chinwalla, V., Chien, A., Odero, M., Neilly, M. B., Zeleznik-Le, N. J., Rowley, J. D.
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<strong>A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15.</strong>
|
|
Oncogene 22: 1400-1410, 2003.
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[PubMed: 12618766]
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[Full Text: https://doi.org/10.1038/sj.onc.1206273]
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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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Genin, A., Desir, J., Lambert, N., Biervliet, M., Van Der Aa, N., Pierquin, G., Killian, A., Tosi, M., Urbina, M., Lefort, A., Libert, F., Pirson, I., Abramowicz, M.
|
|
<strong>Kinetochore KMN network gene CASC5 mutated in primary microcephaly.</strong>
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Hum. Molec. Genet. 21: 5306-5317, 2012.
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[PubMed: 22983954]
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[Full Text: https://doi.org/10.1093/hmg/dds386]
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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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Hayette, S., Tigaud, I., Vanier, A., Martel, S., Corbo, L., Charrin, C., Beillard, E., Deleage, G., Magaud, J. P., Rimokh, R.
|
|
<strong>AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).</strong>
|
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Oncogene 19: 4446-4450, 2000.
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[PubMed: 10980622]
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[Full Text: https://doi.org/10.1038/sj.onc.1203789]
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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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Jamieson, C. R., Govaerts, C., Abramowicz, M. J.
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<strong>Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. (Letter)</strong>
|
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Am. J. Hum. Genet. 65: 1465-1469, 1999.
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[PubMed: 10521316]
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[Full Text: https://doi.org/10.1086/302640]
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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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Kuefer, M. U., Chinwalla, V., Zeleznik-Le, N. J., Behm, F. G., Naeve, C. W., Rakestraw, K. M., Mukatira, S. T., Raimondi, S. C., Morris, S. W.
|
|
<strong>Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).</strong>
|
|
Oncogene 22: 1418-1424, 2003.
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[PubMed: 12618768]
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[Full Text: https://doi.org/10.1038/sj.onc.1206272]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O.
|
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<strong>Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 273-281, 2000.
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[PubMed: 10997877]
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[Full Text: https://doi.org/10.1093/dnares/7.4.271]
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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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Obuse, C., Iwasaki, O., Kiyomitsu, T., Goshima, G., Toyoda, Y., Yanagida, M.
|
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<strong>A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1.</strong>
|
|
Nature Cell Biol. 6: 1135-1141, 2004.
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[PubMed: 15502821]
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[Full Text: https://doi.org/10.1038/ncb1187]
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<li>
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<p class="mim-text-font">
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Saadi, A., Verny, F., Siquier-Pernet, K., Bole-Feysot, C., Nitschke, P., Munnich, A., Abada-Dendib, M., Chaouch, M., Abramowicz, M., Colleaux, L.
|
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<strong>Refining the phenotype associated with CASC5 mutation.</strong>
|
|
Neurogenetics 17: 71-78, 2016.
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[PubMed: 26626498]
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[Full Text: https://doi.org/10.1007/s10048-015-0468-7]
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<li>
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<p class="mim-text-font">
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Takimoto, M., Wei, G., Dosaka-Akita, H., Mao, P., Kondo, S., Sakuragi, N., Chiba, I., Miura, T., Itoh, N., Sasao, T., Koya, R. C., Tsukamoto, T., Fujimoto, S., Katoh, H., Kuzumaki, N.
|
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<strong>Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers.</strong>
|
|
Brit. J. Cancer 86: 1757-1762, 2002.
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[PubMed: 12087463]
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[Full Text: https://doi.org/10.1038/sj.bjc.6600328]
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<li>
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<p class="mim-text-font">
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Wei, G., Takimoto, M., Yoshida, I., Mao, P., Koya, R. C., Miura, T., Kuzumaki, N.
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<strong>Chromosomal assignment of a novel human gene D40.</strong>
|
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Nucleic Acids Symp. Ser. 42: 71-72, 1999.
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[PubMed: 10780384]
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[Full Text: https://doi.org/10.1093/nass/42.1.71]
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</li>
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<li>
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<p class="mim-text-font">
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Zarate, Y. A., Kaylor, J. A., Bosanko, K., Lau, S., Vargas, J., Gao, H.
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<strong>First clinical report of an infant with microcephaly and CASC5 mutations. (Letter)</strong>
|
|
Am. J. Med. Genet. 170A: 2215-2218, 2016.
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[PubMed: 27149178]
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[Full Text: https://doi.org/10.1002/ajmg.a.37726]
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<span class="mim-text-font">
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Bao Lige - updated : 11/23/2021<br>Joanna S. Amberger - updated : 02/19/2018<br>Cassandra L. Kniffin - updated : 10/18/2012
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</span>
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<span class="mim-text-font">
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Patricia A. Hartz : 1/27/2005
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carol : 12/05/2024<br>mgross : 11/23/2021<br>carol : 02/20/2018<br>carol : 02/19/2018<br>carol : 06/01/2017<br>carol : 05/09/2016<br>carol : 5/7/2016<br>carol : 9/25/2013<br>terry : 12/20/2012<br>carol : 10/22/2012<br>ckniffin : 10/18/2012<br>carol : 7/1/2009<br>mgross : 1/27/2005
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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