3456 lines
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Entry
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- *600236 - CENTROMERIC PROTEIN F; CENPF
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600236</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600236">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li 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 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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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000117724;t=ENST00000366955" 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=1063" 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=600236" 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=ENSG00000117724;t=ENST00000366955" 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_016343,XM_011509082,XM_017000086" 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_016343" 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=600236" 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=02582&isoform_id=02582_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/CENPF" 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/818867,924601,1000094,55770834,119613756,311643890,767908145,1034554801,1559951224,2462502283,2462502285" 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/P49454" 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=1063" 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=ENSG00000117724;t=ENST00000366955" 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=CENPF" 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=CENPF" 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+1063" 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/CENPF" 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:1063" 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/1063" 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=chr1&hgg_gene=ENST00000366955.8&hgg_start=214603195&hgg_end=214664571&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600236[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 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=600236[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/CENPF/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/ENSG00000117724" 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=CENPF" 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=CENPF" 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=CENPF" 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=CENPF&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/PA26401" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:1857" 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:1313302" 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/CENPF#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:1313302" 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/1063/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=1063" 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-041111-205" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CENPF&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1187120008<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600236
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CENTROMERIC PROTEIN F; CENPF
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
MITOSIN
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CENPF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CENPF</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/1704?start=-3&limit=10&highlight=1704">1q41</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:214603195-214664571&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'})">1:214,603,195-214,664,571</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
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</thead>
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<tbody>
|
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1704?start=-3&limit=10&highlight=1704">
|
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1q41
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Stromme syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
|
<a href="/entry/243605"> 243605 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600236" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600236" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>The CENPF gene encodes a protein that is dynamically expressed throughout the cell cycle and is associated with the kinetochore and mitotic spindles (summary by <a href="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Rattner, J. B., Rao, A., Fritzler, M. J., Valencia, D. W., Yen, T. J. <strong>CENP-F is a ca 400 kDa kinetochore protein that exhibits a cell-cycle dependent localization.</strong> Cell Motil. Cytoskeleton 26: 214-226, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7904902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7904902</a>] [<a href="https://doi.org/10.1002/cm.970260305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7904902">Rattner et al. (1993)</a> identified a human kinetochore protein with a molecular weight of approximately 400 kD. Designated centromeric protein F, it was only transiently associated with kinetochores from the onset of mitosis to metaphase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7904902" 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="Liao, H., Winkfein, R. J., Mack, G., Rattner, J. B., Yen, T. J. <strong>CENP-F is a protein of the nuclear matrix that assembles onto kinetochores at late G2 and is rapidly degraded after mitosis.</strong> J. Cell Biol. 130: 507-518, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7542657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7542657</a>] [<a href="https://doi.org/10.1083/jcb.130.3.507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7542657">Liao et al. (1995)</a> reported the cDNA sequence of CENPF. The predicted structure of the 367-kD CENPF protein consists of two 1,600-amino acid-long coil domains that flank a central flexible core. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7542657" 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="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a> found that CENPF localized to the basal body in ciliated fibroblasts and at the subdistal appendages of the motor centriole in mouse inner medullary collecting duct cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="mim-changed mim-change"><p><a href="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a> stated that the CENPF gene contains 20 coding exons that encode at least 2 protein-coding transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" 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></div>
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<p>Using CENPF cDNA in fluorescence in situ hybridization, <a href="#9" class="mim-tip-reference" title="Testa, J. R., Zhou, J., Bell, D. W., Yen, T. J. <strong>Chromosomal localization of the genes encoding the kinetochore proteins CENPE and CENPF to human chromosomes 4q24-q25 and 1q32-q41, respectively, by fluorescence in situ hybridization.</strong> Genomics 23: 691-693, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851898</a>] [<a href="https://doi.org/10.1006/geno.1994.1558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7851898">Testa et al. (1994)</a> mapped the CENPF gene to chromosome 1q32-q41. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7851898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 8/24/2016."None>Gross (2016)</a> mapped the CENPF gene to chromosome 1q41 based on an alignment of the CENPF sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=U19769" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">U19769</a>) with the genomic sequence (GRCh38).</p><p>By interspecific backcross analysis, <a href="#2" class="mim-tip-reference" title="Fowler, K. J., Saffery, R., Irvine, D. V., Trowell, H. E., Choo, K. H. A. <strong>Mouse centromere protein F (Cenpf) gene maps to the distal region of chromosome 1 by interspecific backcross analysis.</strong> Cytogenet. Cell Genet. 82: 180-181, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9858811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9858811</a>] [<a href="https://doi.org/10.1159/000015094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9858811">Fowler et al. (1998)</a> mapped the mouse Cenpf gene to the distal region of chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9858811" 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="Liao, H., Winkfein, R. J., Mack, G., Rattner, J. B., Yen, T. J. <strong>CENP-F is a protein of the nuclear matrix that assembles onto kinetochores at late G2 and is rapidly degraded after mitosis.</strong> J. Cell Biol. 130: 507-518, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7542657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7542657</a>] [<a href="https://doi.org/10.1083/jcb.130.3.507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7542657">Liao et al. (1995)</a> reported the expression and localization patterns of CENPF at different stages of the HeLa cell cycle. CENPF is a protein of the nuclear matrix that gradually accumulates during the cell cycle until it reaches peak levels in G2- and M-phase cells and is rapidly degraded upon completion of mitosis. CENPF is first detected at the prekinetochore complex during late G2, and by prophase is clearly detectable as paired foci that correspond to all the centromeres. During mitosis, CENPF is associated with kinetochores from prometaphase until early anaphase and then is detected at the spindle midzone throughout the remainder of anaphase. By telophase, CENPF is concentrated within the intracellular bridge at either side of the midbody. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7542657" 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="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a> found that CENPF colocalized with IFT88 (<a href="/entry/600595">600595</a>) and KIF3B (<a href="/entry/603754">603754</a>) at the centrosome and along ciliary axonemes. The findings indicated that CENPF has a role in ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Kabeche, L., Nguyen, H. D., Buisson, R., Zou, L. <strong>A mitosis-specific and R loop-driven ATR pathway promotes faithful chromosome segregation.</strong> Science 359: 108-114, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29170278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29170278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29170278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.aan6490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29170278">Kabeche et al. (2018)</a> described an unexpected role of ATR (<a href="/entry/601215">601215</a>) in mitosis. Acute inhibition or degradation of ATR in mitosis induces whole-chromosome missegregation. The effect of ATR ablation is not due to altered cyclin-dependent kinase-1 (CDK1; <a href="/entry/116940">116940</a>) activity, DNA damage responses, or unscheduled DNA synthesis, but to loss of an ATR function at centromeres. In mitosis, ATR localizes to centromeres through Aurora A (<a href="/entry/603072">603072</a>)-regulated association with CENPF, allowing ATR to engage replication protein A (RPA; see <a href="/entry/179835">179835</a>)-coated centromeric R loops. As ATR is activated at centromeres, it stimulates Aurora B (<a href="/entry/604970">604970</a>) through Chk1, preventing formation of lagging chromosomes. Thus, a mitosis-specific and R loop-driven ATR pathway acts at centromeres to promote faithful chromosome segregation, revealing functions of R loops and ATR in suppressing chromosome instability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29170278" 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 4 affected fetuses from a nonconsanguineous Caucasian family with a ciliopathy phenotype consistent with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>), <a href="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a> identified compound heterozygous mutations in the CENPF gene (<a href="#0001">600236.0001</a> and <a href="#0002">600236.0002</a>). The mutations were found by whole-exome sequencing. Exome sequencing of the CENPF gene in 1,000 patients with microcephaly further identified 1 patient who was compound heterozygous for 2 truncating mutations (<a href="#0001">600236.0001</a> and <a href="#0003">600236.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" 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 2 sets of sibs from 2 unrelated and nonconsanguineous families of European descent with Stromme syndrome, <a href="#1" class="mim-tip-reference" title="Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., Stromme, P. <strong>Stromme syndrome is a ciliary disorder caused by mutations in CENPF.</strong> Hum. Mutat. 37: 359-363, 2016. Note: Erratum: Hum. Mutat. 37: 711 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26820108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26820108</a>] [<a href="https://doi.org/10.1002/humu.22960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26820108">Filges et al. (2016)</a> identified compound heterozygous truncating mutations in the CENPF gene (<a href="#0001">600236.0001</a>; <a href="#0004">600236.0004</a>-<a href="#0006">600236.0006</a>). The mutations were found by whole-exome sequencing. One of the families had previously been reported by <a href="#8" class="mim-tip-reference" title="Stromme, P., Dahl, E., Flage, T., Stene-Johansen, H. <strong>Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.</strong> Clin. Genet. 44: 208-210, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03881.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8261651">Stromme et al. (1993)</a>. The phenotype was highly variable. The 2 sisters reported by <a href="#8" class="mim-tip-reference" title="Stromme, P., Dahl, E., Flage, T., Stene-Johansen, H. <strong>Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.</strong> Clin. Genet. 44: 208-210, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03881.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8261651">Stromme et al. (1993)</a> were alive in their early twenties with minimal impairment. The 2 sibs in the second family had multiple organ involvement; one died early in life and one was severely affected in utero necessitating termination of the pregnancy. All mutations were predicted to result in complete loss of function, but functional studies of the variants and studies of patient cells were not performed. The findings indicated that Stromme syndrome can be considered a ciliopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26820108+8261651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 24-month-old girl, born to consanguineous parents, with Stromme syndrome, <a href="#6" class="mim-tip-reference" title="Ozkinay, F., Atik, T., Isik, E., Gormez, Z., Sagiroglu, M., Sahin, O. A., Corduk, N., Onay, H. <strong>A further family of Stromme syndrome carrying CENPF mutation.</strong> Am. J. Med. Genet. 173A: 1668-1672, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28407396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28407396</a>] [<a href="https://doi.org/10.1002/ajmg.a.38173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28407396">Ozkinay et al. (2017)</a> identified a homozygous frameshift mutation in the CENPF gene (<a href="#0007">600236.0007</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was also found in the DNA of the patient's deceased male sib who had died from sepsis in the newborn period after an operation for 'apple peel' jejunal atresia. The mutation was found in heterozygous state in their parents. <a href="#6" class="mim-tip-reference" title="Ozkinay, F., Atik, T., Isik, E., Gormez, Z., Sagiroglu, M., Sahin, O. A., Corduk, N., Onay, H. <strong>A further family of Stromme syndrome carrying CENPF mutation.</strong> Am. J. Med. Genet. 173A: 1668-1672, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28407396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28407396</a>] [<a href="https://doi.org/10.1002/ajmg.a.38173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28407396">Ozkinay et al. (2017)</a> proposed that variability in clinical features in the 2 sibs with the same mutation suggested that other modifying factors may be at play, rather than the phenotype being dependent on the amount of protein produced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28407396" 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="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a> found that morpholino knockdown of cenpf in zebrafish embryos resulted in decreased survival and a ciliopathy phenotype, including axis curvature defects, abnormal heart looping, hydrocephalus, and pronephric cysts. Mutant zebrafish also showed left-right patterning defects and shortened Kupffer vesicle cilia compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" 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 4 affected fetuses from a nonconsanguineous Caucasian family with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>), <a href="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a> identified compound heterozygous mutations in the CENPF gene: a c.1744G-T transversion (c.1744G-T, NM_016343.3) in exon 12, resulting in a glu582-to-ter (E582X) substitution, and an A-to-C transversion in intron 5 (IVS5-2A-C; <a href="#0002">600236.0002</a>), predicted to abolish a splice acceptor site from exon 6. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and were not found in 200 control alleles or 200 control in-house exomes. The splice site mutation was predicted to either result in a 97-residue in-frame deletion affecting the MT-binding domain at the N terminus, or in a frameshift and premature termination (Lys191fsTer); however, RNA was not available for confirmation studies. Exome sequencing of the CENPF gene in 1,000 patients with microcephaly further identified 1 patient with microcephaly and mild to moderate learning disabilities who was compound heterozygous for E582X and a c.8692C-T transition, resulting in an arg2898-to-ter (R2898X; <a href="#0003">600236.0003</a>) substitution. Western blot analysis of this patient's cells showed decreased CENPF protein levels, possibly consistent with nonsense-mediated mRNA decay. Renal epithelial cells from the fetuses from the first family showed that the cilia were shortened compared to controls, consistent with defective ciliogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" 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 2 sibs, born of unrelated parents of northern European descent, with a severe form of Stromme syndrome, <a href="#1" class="mim-tip-reference" title="Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., Stromme, P. <strong>Stromme syndrome is a ciliary disorder caused by mutations in CENPF.</strong> Hum. Mutat. 37: 359-363, 2016. Note: Erratum: Hum. Mutat. 37: 711 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26820108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26820108</a>] [<a href="https://doi.org/10.1002/humu.22960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26820108">Filges et al. (2016)</a> identified compound heterozygous truncating mutations in the CENPF gene: an E582X substitution and a c.9280C-T transition in exon 20, resulting in an arg3094-to-ter (R3094X; <a href="#0006">600236.0006</a>) substitution in the nuclear localization signal. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variants were found at very low frequencies in the ExAC database, and none has been reported in the homozygous state, which is compatible with a rare disease. The mutations were predicted to result in a complete loss of function, but functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26820108" 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>For discussion of the IVS5-2A-C mutation (IVS5-2A-C, NM_016343.3) in the CENPF gene that was found in compound heterozygous state in fetuses with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>) by <a href="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a>, see <a href="#0001">600236.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs786205697 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205697;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=rs786205697" 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=rs786205697" 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=RCV000170525" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170525" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170525</a>
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<p>For discussion of the arg2898-to-ter (R2898X) (c.8692C-T, NM_016343.3) mutation in the CENPF gene that was found in compound heterozygous state in a patient with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>) by <a href="#10" class="mim-tip-reference" title="Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others. <strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong> J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25564561">Waters et al. (2015)</a>, see <a href="#0001">600236.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25564561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs200976140 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200976140;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/rs200976140?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=rs200976140" 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=rs200976140" 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=RCV000210064" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210064" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210064</a>
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<p>In 2 Norwegian sisters with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>) originally reported by <a href="#8" class="mim-tip-reference" title="Stromme, P., Dahl, E., Flage, T., Stene-Johansen, H. <strong>Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.</strong> Clin. Genet. 44: 208-210, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261651</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03881.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8261651">Stromme et al. (1993)</a>, <a href="#1" class="mim-tip-reference" title="Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., Stromme, P. <strong>Stromme syndrome is a ciliary disorder caused by mutations in CENPF.</strong> Hum. Mutat. 37: 359-363, 2016. Note: Erratum: Hum. Mutat. 37: 711 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26820108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26820108</a>] [<a href="https://doi.org/10.1002/humu.22960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26820108">Filges et al. (2016)</a> identified compound heterozygous truncating mutations in the CENPF gene: a c.2734G-T transversion (c.2734G-T, NM_016343.3) in exon 12, resulting in a glu912-to-ter (E912X) substitution, and a 29-bp deletion (c.165_193del; <a href="#0005">600236.0005</a>) in exon 3, resulting in a frameshift and premature termination (Asn57LysfsTer11). The nonsense variant was found at a very low frequency in the ExAC database, but has not been reported in the homozygous state, which is compatible with a rare disease. The mutations were predicted to result in a complete loss of function, but functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26820108+8261651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs757575602 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs757575602;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/rs757575602?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=rs757575602" 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=rs757575602" 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=RCV000210068" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210068" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210068</a>
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<p>For discussion of the 29-bp deletion (c.165_193del, NM_016343.3) in exon 3 of the CENPF gene, resulting in a frameshift and premature termination (Asn57LysfsTer11) that was found in compound heterozygous state in 2 sisters with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>) by <a href="#1" class="mim-tip-reference" title="Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., Stromme, P. <strong>Stromme syndrome is a ciliary disorder caused by mutations in CENPF.</strong> Hum. Mutat. 37: 359-363, 2016. Note: Erratum: Hum. Mutat. 37: 711 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26820108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26820108</a>] [<a href="https://doi.org/10.1002/humu.22960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26820108">Filges et al. (2016)</a>, see <a href="#0004">600236.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26820108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 STROMME SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs869312748 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312748;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/rs869312748?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=rs869312748" 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=rs869312748" 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=RCV000210061" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210061" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210061</a>
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<p>For discussion of the c.9280C-T transition (c.9280C-T, NM_016343.3) in exon 20 of the CENPF gene, resulting in an arg3094-to-ter (R3094X) substitution, that was found in compound heterozygous state in 2 sibs with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>) by <a href="#1" class="mim-tip-reference" title="Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., Stromme, P. <strong>Stromme syndrome is a ciliary disorder caused by mutations in CENPF.</strong> Hum. Mutat. 37: 359-363, 2016. Note: Erratum: Hum. Mutat. 37: 711 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26820108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26820108</a>] [<a href="https://doi.org/10.1002/humu.22960" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26820108">Filges et al. (2016)</a>, see <a href="#0001">600236.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26820108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs757531591 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs757531591;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/rs757531591?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=rs757531591" 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=rs757531591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a brother and sister with Stromme syndrome (STROMS; <a href="/entry/243605">243605</a>), <a href="#6" class="mim-tip-reference" title="Ozkinay, F., Atik, T., Isik, E., Gormez, Z., Sagiroglu, M., Sahin, O. A., Corduk, N., Onay, H. <strong>A further family of Stromme syndrome carrying CENPF mutation.</strong> Am. J. Med. Genet. 173A: 1668-1672, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28407396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28407396</a>] [<a href="https://doi.org/10.1002/ajmg.a.38173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28407396">Ozkinay et al. (2017)</a> identified a 1-bp insertion (c.5912_5913insA, NM_016343.3) in exon 13 of the CENPF gene, resulting in a frameshift and a premature termination codon (Thr1974AsnfsTer9). The mutation occurred in the coiled-coil domain region. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28407396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
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<a id="Filges2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., Stromme, P.
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|
<strong>Stromme syndrome is a ciliary disorder caused by mutations in CENPF.</strong>
|
|
Hum. Mutat. 37: 359-363, 2016. Note: Erratum: Hum. Mutat. 37: 711 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26820108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26820108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26820108" 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/humu.22960" target="_blank">Full Text</a>]
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Fowler1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fowler, K. J., Saffery, R., Irvine, D. V., Trowell, H. E., Choo, K. H. A.
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|
<strong>Mouse centromere protein F (Cenpf) gene maps to the distal region of chromosome 1 by interspecific backcross analysis.</strong>
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|
Cytogenet. Cell Genet. 82: 180-181, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9858811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9858811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9858811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000015094" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Gross2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/24/2016.
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Kabeche2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kabeche, L., Nguyen, H. D., Buisson, R., Zou, L.
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<strong>A mitosis-specific and R loop-driven ATR pathway promotes faithful chromosome segregation.</strong>
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|
Science 359: 108-114, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29170278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29170278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29170278[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=29170278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.aan6490" target="_blank">Full Text</a>]
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Liao1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liao, H., Winkfein, R. J., Mack, G., Rattner, J. B., Yen, T. J.
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<strong>CENP-F is a protein of the nuclear matrix that assembles onto kinetochores at late G2 and is rapidly degraded after mitosis.</strong>
|
|
J. Cell Biol. 130: 507-518, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7542657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7542657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7542657" 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/10.1083/jcb.130.3.507" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Ozkinay2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ozkinay, F., Atik, T., Isik, E., Gormez, Z., Sagiroglu, M., Sahin, O. A., Corduk, N., Onay, H.
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<strong>A further family of Stromme syndrome carrying CENPF mutation.</strong>
|
|
Am. J. Med. Genet. 173A: 1668-1672, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28407396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28407396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28407396" 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.38173" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Rattner1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rattner, J. B., Rao, A., Fritzler, M. J., Valencia, D. W., Yen, T. J.
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<strong>CENP-F is a ca 400 kDa kinetochore protein that exhibits a cell-cycle dependent localization.</strong>
|
|
Cell Motil. Cytoskeleton 26: 214-226, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7904902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7904902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7904902" 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/cm.970260305" 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="8" class="mim-anchor"></a>
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<a id="Stromme1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stromme, P., Dahl, E., Flage, T., Stene-Johansen, H.
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<strong>Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.</strong>
|
|
Clin. Genet. 44: 208-210, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8261651" 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/10.1111/j.1399-0004.1993.tb03881.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Testa1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Testa, J. R., Zhou, J., Bell, D. W., Yen, T. J.
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<strong>Chromosomal localization of the genes encoding the kinetochore proteins CENPE and CENPF to human chromosomes 4q24-q25 and 1q32-q41, respectively, by fluorescence in situ hybridization.</strong>
|
|
Genomics 23: 691-693, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7851898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1558" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Waters2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others.
|
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<strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong>
|
|
J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25564561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25564561</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25564561[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=25564561" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2014-102691" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</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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Sonja A. Rasmussen - updated : 02/27/2019
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</span>
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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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Ada Hamosh - updated : 08/14/2018<br>Matthew B. Gross - updated : 08/24/2016<br>Cassandra L. Kniffin - updated : 3/14/2016<br>Cassandra L. Kniffin - updated : 5/14/2015<br>Carol A. Bocchini - updated : 3/24/1999
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</span>
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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="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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Victor A. McKusick : 12/13/1994
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</span>
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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="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/19/2025
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/27/2019<br>alopez : 08/14/2018<br>carol : 10/20/2017<br>carol : 08/25/2017<br>alopez : 08/18/2017<br>mgross : 08/24/2016<br>carol : 03/29/2016<br>carol : 3/15/2016<br>ckniffin : 3/14/2016<br>alopez : 5/19/2015<br>mcolton : 5/18/2015<br>ckniffin : 5/14/2015<br>alopez : 3/27/2014<br>carol : 4/27/2000<br>terry : 3/25/1999<br>carol : 3/24/1999<br>jamie : 1/17/1997<br>mark : 10/13/1995<br>carol : 12/13/1994
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600236
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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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CENTROMERIC PROTEIN F; CENPF
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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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<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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MITOSIN
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</span>
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</h4>
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</div>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CENPF</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1187120008;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q41
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:214,603,195-214,664,571 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1q41
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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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Stromme syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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243605
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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 CENPF gene encodes a protein that is dynamically expressed throughout the cell cycle and is associated with the kinetochore and mitotic spindles (summary by Waters et al., 2015). </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>Rattner et al. (1993) identified a human kinetochore protein with a molecular weight of approximately 400 kD. Designated centromeric protein F, it was only transiently associated with kinetochores from the onset of mitosis to metaphase. </p><p>Liao et al. (1995) reported the cDNA sequence of CENPF. The predicted structure of the 367-kD CENPF protein consists of two 1,600-amino acid-long coil domains that flank a central flexible core. </p><p>Waters et al. (2015) found that CENPF localized to the basal body in ciliated fibroblasts and at the subdistal appendages of the motor centriole in mouse inner medullary collecting duct cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Waters et al. (2015) stated that the CENPF gene contains 20 coding exons that encode at least 2 protein-coding transcripts. </p>
|
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
|
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|
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<span class="mim-text-font">
|
|
<p>Using CENPF cDNA in fluorescence in situ hybridization, Testa et al. (1994) mapped the CENPF gene to chromosome 1q32-q41. </p><p>Gross (2016) mapped the CENPF gene to chromosome 1q41 based on an alignment of the CENPF sequence (GenBank U19769) with the genomic sequence (GRCh38).</p><p>By interspecific backcross analysis, Fowler et al. (1998) mapped the mouse Cenpf gene to the distal region of chromosome 1. </p>
|
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</span>
|
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Liao et al. (1995) reported the expression and localization patterns of CENPF at different stages of the HeLa cell cycle. CENPF is a protein of the nuclear matrix that gradually accumulates during the cell cycle until it reaches peak levels in G2- and M-phase cells and is rapidly degraded upon completion of mitosis. CENPF is first detected at the prekinetochore complex during late G2, and by prophase is clearly detectable as paired foci that correspond to all the centromeres. During mitosis, CENPF is associated with kinetochores from prometaphase until early anaphase and then is detected at the spindle midzone throughout the remainder of anaphase. By telophase, CENPF is concentrated within the intracellular bridge at either side of the midbody. </p><p>Waters et al. (2015) found that CENPF colocalized with IFT88 (600595) and KIF3B (603754) at the centrosome and along ciliary axonemes. The findings indicated that CENPF has a role in ciliogenesis. </p><p>Kabeche et al. (2018) described an unexpected role of ATR (601215) in mitosis. Acute inhibition or degradation of ATR in mitosis induces whole-chromosome missegregation. The effect of ATR ablation is not due to altered cyclin-dependent kinase-1 (CDK1; 116940) activity, DNA damage responses, or unscheduled DNA synthesis, but to loss of an ATR function at centromeres. In mitosis, ATR localizes to centromeres through Aurora A (603072)-regulated association with CENPF, allowing ATR to engage replication protein A (RPA; see 179835)-coated centromeric R loops. As ATR is activated at centromeres, it stimulates Aurora B (604970) through Chk1, preventing formation of lagging chromosomes. Thus, a mitosis-specific and R loop-driven ATR pathway acts at centromeres to promote faithful chromosome segregation, revealing functions of R loops and ATR in suppressing chromosome instability. </p>
|
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In 4 affected fetuses from a nonconsanguineous Caucasian family with a ciliopathy phenotype consistent with Stromme syndrome (STROMS; 243605), Waters et al. (2015) identified compound heterozygous mutations in the CENPF gene (600236.0001 and 600236.0002). The mutations were found by whole-exome sequencing. Exome sequencing of the CENPF gene in 1,000 patients with microcephaly further identified 1 patient who was compound heterozygous for 2 truncating mutations (600236.0001 and 600236.0003). </p><p>In 2 sets of sibs from 2 unrelated and nonconsanguineous families of European descent with Stromme syndrome, Filges et al. (2016) identified compound heterozygous truncating mutations in the CENPF gene (600236.0001; 600236.0004-600236.0006). The mutations were found by whole-exome sequencing. One of the families had previously been reported by Stromme et al. (1993). The phenotype was highly variable. The 2 sisters reported by Stromme et al. (1993) were alive in their early twenties with minimal impairment. The 2 sibs in the second family had multiple organ involvement; one died early in life and one was severely affected in utero necessitating termination of the pregnancy. All mutations were predicted to result in complete loss of function, but functional studies of the variants and studies of patient cells were not performed. The findings indicated that Stromme syndrome can be considered a ciliopathy. </p><p>In a 24-month-old girl, born to consanguineous parents, with Stromme syndrome, Ozkinay et al. (2017) identified a homozygous frameshift mutation in the CENPF gene (600236.0007). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was also found in the DNA of the patient's deceased male sib who had died from sepsis in the newborn period after an operation for 'apple peel' jejunal atresia. The mutation was found in heterozygous state in their parents. Ozkinay et al. (2017) proposed that variability in clinical features in the 2 sibs with the same mutation suggested that other modifying factors may be at play, rather than the phenotype being dependent on the amount of protein produced. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Waters et al. (2015) found that morpholino knockdown of cenpf in zebrafish embryos resulted in decreased survival and a ciliopathy phenotype, including axis curvature defects, abnormal heart looping, hydrocephalus, and pronephric cysts. Mutant zebrafish also showed left-right patterning defects and shortened Kupffer vesicle cilia compared to controls. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 STROMME SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CENPF, GLU582TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs367624766,
|
|
|
|
|
|
gnomAD: rs367624766,
|
|
|
|
|
|
ClinVar: RCV000170523, RCV001797060
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected fetuses from a nonconsanguineous Caucasian family with Stromme syndrome (STROMS; 243605), Waters et al. (2015) identified compound heterozygous mutations in the CENPF gene: a c.1744G-T transversion (c.1744G-T, NM_016343.3) in exon 12, resulting in a glu582-to-ter (E582X) substitution, and an A-to-C transversion in intron 5 (IVS5-2A-C; 600236.0002), predicted to abolish a splice acceptor site from exon 6. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and were not found in 200 control alleles or 200 control in-house exomes. The splice site mutation was predicted to either result in a 97-residue in-frame deletion affecting the MT-binding domain at the N terminus, or in a frameshift and premature termination (Lys191fsTer); however, RNA was not available for confirmation studies. Exome sequencing of the CENPF gene in 1,000 patients with microcephaly further identified 1 patient with microcephaly and mild to moderate learning disabilities who was compound heterozygous for E582X and a c.8692C-T transition, resulting in an arg2898-to-ter (R2898X; 600236.0003) substitution. Western blot analysis of this patient's cells showed decreased CENPF protein levels, possibly consistent with nonsense-mediated mRNA decay. Renal epithelial cells from the fetuses from the first family showed that the cilia were shortened compared to controls, consistent with defective ciliogenesis. </p><p>In 2 sibs, born of unrelated parents of northern European descent, with a severe form of Stromme syndrome, Filges et al. (2016) identified compound heterozygous truncating mutations in the CENPF gene: an E582X substitution and a c.9280C-T transition in exon 20, resulting in an arg3094-to-ter (R3094X; 600236.0006) substitution in the nuclear localization signal. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variants were found at very low frequencies in the ExAC database, and none has been reported in the homozygous state, which is compatible with a rare disease. The mutations were predicted to result in a complete loss of function, but functional studies of the variants and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 STROMME SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CENPF, IVS5AS, A-C, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs376767238,
|
|
|
|
|
|
|
|
ClinVar: RCV000170524, RCV004752769
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the IVS5-2A-C mutation (IVS5-2A-C, NM_016343.3) in the CENPF gene that was found in compound heterozygous state in fetuses with Stromme syndrome (STROMS; 243605) by Waters et al. (2015), see 600236.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 STROMME SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CENPF, ARG2898TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786205697,
|
|
|
|
|
|
|
|
ClinVar: RCV000170525
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg2898-to-ter (R2898X) (c.8692C-T, NM_016343.3) mutation in the CENPF gene that was found in compound heterozygous state in a patient with Stromme syndrome (STROMS; 243605) by Waters et al. (2015), see 600236.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 STROMME SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CENPF, GLU912TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200976140,
|
|
|
|
|
|
gnomAD: rs200976140,
|
|
|
|
|
|
ClinVar: RCV000210064
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Norwegian sisters with Stromme syndrome (STROMS; 243605) originally reported by Stromme et al. (1993), Filges et al. (2016) identified compound heterozygous truncating mutations in the CENPF gene: a c.2734G-T transversion (c.2734G-T, NM_016343.3) in exon 12, resulting in a glu912-to-ter (E912X) substitution, and a 29-bp deletion (c.165_193del; 600236.0005) in exon 3, resulting in a frameshift and premature termination (Asn57LysfsTer11). The nonsense variant was found at a very low frequency in the ExAC database, but has not been reported in the homozygous state, which is compatible with a rare disease. The mutations were predicted to result in a complete loss of function, but functional studies of the variants and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 STROMME SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CENPF, 29-BP DEL, NT165
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs757575602,
|
|
|
|
|
|
gnomAD: rs757575602,
|
|
|
|
|
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ClinVar: RCV000210068
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 29-bp deletion (c.165_193del, NM_016343.3) in exon 3 of the CENPF gene, resulting in a frameshift and premature termination (Asn57LysfsTer11) that was found in compound heterozygous state in 2 sisters with Stromme syndrome (STROMS; 243605) by Filges et al. (2016), see 600236.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
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</div>
|
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|
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</div>
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|
|
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 STROMME SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CENPF, ARG3094TER
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|
|
|
|
<br />
|
|
|
|
SNP: rs869312748,
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|
|
|
gnomAD: rs869312748,
|
|
|
|
|
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ClinVar: RCV000210061
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|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.9280C-T transition (c.9280C-T, NM_016343.3) in exon 20 of the CENPF gene, resulting in an arg3094-to-ter (R3094X) substitution, that was found in compound heterozygous state in 2 sibs with Stromme syndrome (STROMS; 243605) by Filges et al. (2016), see 600236.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 STROMME SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CENPF, 1-BP INS, 5912A
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|
|
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<br />
|
|
|
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SNP: rs757531591,
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|
|
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gnomAD: rs757531591,
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|
|
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ClinVar: RCV000758080
|
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|
|
|
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</span>
|
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</div>
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|
|
|
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<div>
|
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<span class="mim-text-font">
|
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<p>In a brother and sister with Stromme syndrome (STROMS; 243605), Ozkinay et al. (2017) identified a 1-bp insertion (c.5912_5913insA, NM_016343.3) in exon 13 of the CENPF gene, resulting in a frameshift and a premature termination codon (Thr1974AsnfsTer9). The mutation occurred in the coiled-coil domain region. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the phenotype in the family. </p>
|
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</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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</div>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Filges, I., Bruder, E., Brandal, K., Meier, S., Undlien, D. E., Waage, T. R., Hoesli, I., Schubach, M., de Beer, T., Sheng, Y., Hoeller, S., Schulzke, S., Rosby, O., Miny, P., Tercanli, S., Oppedal, T., Meyer, P., Selmer, K. K., Stromme, P.
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<strong>Stromme syndrome is a ciliary disorder caused by mutations in CENPF.</strong>
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Hum. Mutat. 37: 359-363, 2016. Note: Erratum: Hum. Mutat. 37: 711 only, 2016.
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[PubMed: 26820108]
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Fowler, K. J., Saffery, R., Irvine, D. V., Trowell, H. E., Choo, K. H. A.
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<strong>Mouse centromere protein F (Cenpf) gene maps to the distal region of chromosome 1 by interspecific backcross analysis.</strong>
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Cytogenet. Cell Genet. 82: 180-181, 1998.
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</p>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 8/24/2016.
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</p>
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<p class="mim-text-font">
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Kabeche, L., Nguyen, H. D., Buisson, R., Zou, L.
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<strong>A mitosis-specific and R loop-driven ATR pathway promotes faithful chromosome segregation.</strong>
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Science 359: 108-114, 2018.
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[PubMed: 29170278]
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[Full Text: https://doi.org/10.1126/science.aan6490]
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</p>
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<li>
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<p class="mim-text-font">
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Liao, H., Winkfein, R. J., Mack, G., Rattner, J. B., Yen, T. J.
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<strong>CENP-F is a protein of the nuclear matrix that assembles onto kinetochores at late G2 and is rapidly degraded after mitosis.</strong>
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J. Cell Biol. 130: 507-518, 1995.
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[PubMed: 7542657]
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[Full Text: https://doi.org/10.1083/jcb.130.3.507]
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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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Ozkinay, F., Atik, T., Isik, E., Gormez, Z., Sagiroglu, M., Sahin, O. A., Corduk, N., Onay, H.
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<strong>A further family of Stromme syndrome carrying CENPF mutation.</strong>
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Am. J. Med. Genet. 173A: 1668-1672, 2017.
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[PubMed: 28407396]
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[Full Text: https://doi.org/10.1002/ajmg.a.38173]
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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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Rattner, J. B., Rao, A., Fritzler, M. J., Valencia, D. W., Yen, T. J.
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<strong>CENP-F is a ca 400 kDa kinetochore protein that exhibits a cell-cycle dependent localization.</strong>
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Cell Motil. Cytoskeleton 26: 214-226, 1993.
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[PubMed: 7904902]
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[Full Text: https://doi.org/10.1002/cm.970260305]
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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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Stromme, P., Dahl, E., Flage, T., Stene-Johansen, H.
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<strong>Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.</strong>
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Clin. Genet. 44: 208-210, 1993.
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[PubMed: 8261651]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03881.x]
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Testa, J. R., Zhou, J., Bell, D. W., Yen, T. J.
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<strong>Chromosomal localization of the genes encoding the kinetochore proteins CENPE and CENPF to human chromosomes 4q24-q25 and 1q32-q41, respectively, by fluorescence in situ hybridization.</strong>
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Genomics 23: 691-693, 1994.
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[PubMed: 7851898]
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[Full Text: https://doi.org/10.1006/geno.1994.1558]
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Waters, A. M., Asfahani, R., Carroll, P., Bicknell, L., Lescai, F., Bright, A., Chanudet, E., Brooks, A., Christou-Savina, S., Osman, G., Walsh, P., Bacchelli, C., and 21 others.
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<strong>The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.</strong>
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J. Med. Genet. 52: 147-156, 2015. Note: Erratum: J. Med. Genet. 53: 845 only, 2016.
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[PubMed: 25564561]
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[Full Text: https://doi.org/10.1136/jmedgenet-2014-102691]
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Sonja A. Rasmussen - updated : 02/27/2019<br>Ada Hamosh - updated : 08/14/2018<br>Matthew B. Gross - updated : 08/24/2016<br>Cassandra L. Kniffin - updated : 3/14/2016<br>Cassandra L. Kniffin - updated : 5/14/2015<br>Carol A. Bocchini - updated : 3/24/1999
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