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Entry
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- *616690 - CENTROSOMAL PROTEIN, 104-KD; CEP104
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- OMIM
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<p>
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<span class="h4">*616690</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/616690">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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-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 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 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=ENSG00000116198;t=ENST00000378230" 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=9731" 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=616690" 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=ENSG00000116198;t=ENST00000378230" 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_014704,XM_005244815,XM_024451101,XM_024451102,XM_024451104,XM_024451106,XM_024451108,XM_047435158,XM_047435161" 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_014704" 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=616690" 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://www.proteinatlas.org/search/CEP104" 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/7662180,20140432,28704045,29791806,33876357,119591887,119591888,119591889,119591890,221043936,530360459,929654028,1370455417,1370455420,1370455424,1370455428,1370455430,2217272569,2217272572,2462515736,2462515738,2462515740,2462515742,2462515744,2462515746,2462515748,2462515750" 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/O60308" 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=9731" 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=ENSG00000116198;t=ENST00000378230" 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=CEP104" 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=CEP104" 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+9731" 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/CEP104" 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:9731" 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/9731" 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=ENST00000378230.8&hgg_start=3812086&hgg_end=3857211&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:24866" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616690[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=616690[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://gnomad.broadinstitute.org/gene/ENSG00000116198" 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=CEP104" 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=CEP104" 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=CEP104" 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=CEP104&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/PA144596418" 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 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:24866" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0032800.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2687282" 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/CEP104#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:2687282" 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/9731/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=9731" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008039;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008039 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00011523;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00011523 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015517;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015517 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-060503-195" 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=CEP104&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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616690
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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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CENTROSOMAL PROTEIN, 104-KD; CEP104
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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GLYCINE-, GLUTAMATE-, AND THIENYLCYCLOHEXYLPIPERIDINE-BINDING PROTEIN; GLYBP<br />
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FAP256, CHLAMYDOMONAS, HOMOLOG OF<br />
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KIAA0562
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CEP104" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CEP104</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/84?start=-3&limit=10&highlight=84">1p36.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:3812086-3857211&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'})">1:3,812,086-3,857,211</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=619988,616781" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/84?start=-3&limit=10&highlight=84">
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1p36.32
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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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Intellectual developmental disorder, autosomal recessive 77
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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/619988"> 619988 </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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<tr>
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<td>
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<span class="mim-font">
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Joubert syndrome 25
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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/616781"> 616781 </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">
|
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<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/616690" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>CEP104 localizes on the distal ends of both centrioles of nondividing cells until the mother centriole forms a cilium and then localizes at the tip of the elongating cilium. It appears to be required for both ciliogenesis and for structural integrity at the ciliary tip (<a href="#6" class="mim-tip-reference" title="Satish Tammana, T. V., Tammana, D., Diener, D. R., Rosenbaum, J. <strong>Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.</strong> J. Cell Sci. 126: 5018-5029, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23970417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23970417</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23970417[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/10.1242/jcs.133439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23970417">Satish Tammana et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23970417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using polyclonal antibodies to immunopurify a protein with ligand recognition sites similar to those of brain NMDA receptors (see GRIN1, <a href="/entry/138249">138249</a>) from rat brain synaptic membrane, followed by screening a rat hippocampus cDNA expression library, <a href="#4" class="mim-tip-reference" title="Kumar, K. N., Babcock, K. K., Johnson, P. S., Ahmad, C. M., Michaelis, E. K. <strong>Cloning of the cDNA for brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein.</strong> Biochem. Biophys. Res. Commun. 216: 390-398, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7488117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7488117</a>] [<a href="https://doi.org/10.1006/bbrc.1995.2636" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7488117">Kumar et al. (1995)</a> cloned Cep104, which they called Glybp. The deduced 470-amino acid protein contains 2 glycosylation sites, 3 hydrophobic regions, 4 cys-rich motifs, and 2 regions of homology with Grin1. Northern blot analysis revealed expression of a 1.9-kb transcript in rat cortex, hippocampus, cerebellum, and brainstem. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7488117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening for large proteins expressed in brain, <a href="#5" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> cloned human CEP104, which they called KIAA0562. The predicted 925-amino acid protein shares significant homology with rat Glybp. RT-PCR analysis detected variable expression in all human tissues examined, with highest levels in kidney and skeletal muscle and lowest levels in testis and spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using confocal microscopy of human RPE1 retinal pigment epithelial cells starved to induce cilia formation, <a href="#6" class="mim-tip-reference" title="Satish Tammana, T. V., Tammana, D., Diener, D. R., Rosenbaum, J. <strong>Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.</strong> J. Cell Sci. 126: 5018-5029, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23970417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23970417</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23970417[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/10.1242/jcs.133439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23970417">Satish Tammana et al. (2013)</a> demonstrated localization of CEP104 to the tip of the primary cilium as well as at the distal end in the daughter centriole, but not the mother centriole. CEP104 remained at the ciliary tip during ciliary resorption and localized to centrioles during cell division. RNA interference experiments showed that CEP104 was required for ciliogenesis in RPE1 cells, similar to findings for its Chlamydomonas ortholog, Fap256. <a href="#6" class="mim-tip-reference" title="Satish Tammana, T. V., Tammana, D., Diener, D. R., Rosenbaum, J. <strong>Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.</strong> J. Cell Sci. 126: 5018-5029, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23970417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23970417</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23970417[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/10.1242/jcs.133439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23970417">Satish Tammana et al. (2013)</a> proposed that CEP104 has functions at the centriole to initiate ciliogenesis and at the ciliary tip, where it is required for formation or stability of specializations characteristic of the tip. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23970417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#5" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> mapped the CEP104 gene to chromosome 1. <a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 12/11/2015."None>Gross (2015)</a> mapped the CEP104 gene to chromosome 1p36.32 based on an alignment of the CEP104 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC047450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC047450</a>) with the genomic sequence (GRCh38). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Joubert Syndrome 25</em></strong></p><p>
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In 3 unrelated children with Joubert syndrome-25 (JBTS25; <a href="/entry/616781">616781</a>), <a href="#7" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a> identified homozygous or compound heterozygous mutations in the CEP104 gene (<a href="#0001">616690.0001</a>-<a href="#0003">616690.0003</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies and studies on patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26477546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Autosomal Recessive Intellectual Developmental Disorder 77</em></strong></p><p>
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In 4 patients from 2 unrelated consanguineous Iranian families (families 8800138 and 9100012), with autosomal recessive intellectual developmental disorder-77 (MRT77; <a href="/entry/619988">619988</a>), <a href="#3" class="mim-tip-reference" title="Khoshbakht, S., Beheshtian, M., Fattahi, Z., Bazazzadegan, N., Parsimehr, E., Fadaee, M., Vazehan, R., Faraji Zonooz, M., Abolhassani, A., Makvand, M., Kariminejad, A., Celik, A., Kahrizi, K., Najmabadi, H. <strong>CEP104 and CEP290; genes with ciliary functions cause intellectual disability in multiple families.</strong> Arch. Iran. Med. 24: 364-373, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34196201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34196201</a>] [<a href="https://doi.org/10.34172/aim.2021.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34196201">Khoshbakht et al. (2021)</a> identified homozygous frameshift mutations in the CEP104 gene (<a href="#0005">616690.0005</a> and <a href="#0006">616690.0006</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Neither was present in the ClinVar, 1000 Genomes Project, or ExAC databases. Patient-derived lymphoblastoid cells showed a significant reduction in CEP104 transcripts, although Western blot analysis was consistent with low expression of a truncated protein, suggesting incomplete nonsense-mediated mRNA decay. Additional functional studies were not performed. The patients had global developmental delay with normal brain imaging, thus distinguishing the phenotype from Joubert syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34196201" 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 7.5-year-old girl, born of consanguineous Iranian parents, with MRT77, <a href="#1" class="mim-tip-reference" title="Badv, R. S., Mahdiannasser, M., Rasoulinezhad, M., Habibi, L., Rashidi-Nezhad, A. <strong>CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert (sic) syndrome.</strong> Molec. Biol. Rep. 49: 7231-7237, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35359234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35359234</a>] [<a href="https://doi.org/10.1007/s11033-022-07353-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35359234">Badv et al. (2022)</a> identified a homozygous nonsense mutation in the CEP104 gene (R215X; <a href="#0007">616690.0007</a>). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not reported in the 1000 Genomes Project database. Functional studies of the variant and studies of patient cells were not performed. The patient had global developmental delay with normal brain imaging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35359234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=616690[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869025276 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025276;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=rs869025276" 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=rs869025276" 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=RCV000207253 OR RCV003441789" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000207253, RCV003441789" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000207253...</a>
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<p>In a 2.5-year-old girl (patient 1763.618) of French Canadian descent with Joubert syndrome-25 (JBTS25; <a href="/entry/616781">616781</a>), <a href="#7" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a> identified a homozygous T-to-C transition in intron 7 of the CEP104 gene (c.735+2T-C, NM_014704.3), predicted to result in a splice site aberration and skipping of exon 7. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 201 in-house control exomes. Functional studies and studies on patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26477546" 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">rs869025277 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025277;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=rs869025277" 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=rs869025277" 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 3.5-year-old boy (patient 842629), born of consanguineous Arab-Israeli parents, with Joubert syndrome-25 (JBTS25; <a href="/entry/616781">616781</a>), <a href="#7" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a> identified a homozygous 1-bp insertion (c.1328_1329insT, NM_014704.3) in the CEP104 gene, resulting in a frameshift and premature termination (Tyr444fsTer3). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was nor found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 350 in-house ethnically matched exomes. Functional studies and studies on patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26477546" 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> rs374574638 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs374574638;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/rs374574638?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=rs374574638" 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=rs374574638" 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 28-month-old boy (patient GeneDX01) with Joubert syndrome-25 (JBTS25; <a href="/entry/616781">616781</a>), <a href="#7" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a> identified compound heterozygous mutations in the CEP104 gene: a c.496C-T transition (c.496C-T, NM014704.3), resulting in an arg166-to-ter (R166X) substitution, and an A-to-G transition in intron 20 (c.2572-2A-G; <a href="#0004">616690.0004</a>), predicted to result in a splice site mutation. The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. The R166X mutation was inherited from the unaffected mother, whereas the splice site mutation occurred de novo. The R166X variant was found at very low frequencies in the Exome Variant Server and ExAC databases, whereas the splice site mutation was not found in either of these databases. Functional studies and studies on patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26477546" 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">rs869025278 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025278;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=rs869025278" 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=rs869025278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the A-to-G transition in intron 20 of the CEP104 gene (c.2572-2A-G, NM_014704.3), predicted to result in a splice site mutation, that was found in compound heterozygous state in a patient with Joubert syndrome-25 (JBTS25; <a href="/entry/616781">616781</a>) by <a href="#7" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others. <strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong> Am. J. Hum. Genet. 97: 744-753, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26477546">Srour et al. (2015)</a>, see <a href="#0003">616690.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26477546" 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">rs2124647615 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2124647615;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=rs2124647615" 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=rs2124647615" 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=RCV002274823" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002274823" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002274823</a>
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<p>In a 10-year-old boy, born of consanguineous Iranian parents (family 8800138), with autosomal recessive intellectual developmental disorder-77 (MRT77; <a href="/entry/619988">619988</a>), <a href="#3" class="mim-tip-reference" title="Khoshbakht, S., Beheshtian, M., Fattahi, Z., Bazazzadegan, N., Parsimehr, E., Fadaee, M., Vazehan, R., Faraji Zonooz, M., Abolhassani, A., Makvand, M., Kariminejad, A., Celik, A., Kahrizi, K., Najmabadi, H. <strong>CEP104 and CEP290; genes with ciliary functions cause intellectual disability in multiple families.</strong> Arch. Iran. Med. 24: 364-373, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34196201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34196201</a>] [<a href="https://doi.org/10.34172/aim.2021.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34196201">Khoshbakht et al. (2021)</a> identified a homozygous 2-bp insertion (c.2356_2357insTT, NM_014704) in the CEP104 gene, resulting in a frameshift and premature termination (Cys786PhefsTer11) in the C-terminal domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the ClinVar, 1000 Genomes Project, or ExAC databases. Patient-derived lymphoblastoid cells showed a significant reduction in CEP104 transcripts, and Western blot analysis was consistent with low expression of a truncated protein, suggesting incomplete nonsense-mediated mRNA decay. Additional functional studies were not performed. The patient had global developmental delay with normal brain imaging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34196201" 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> rs1411591918 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1411591918;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/rs1411591918?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=rs1411591918" 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=rs1411591918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 sibs, born of consanguineous Iranian parents (family 9100012), with autosomal recessive intellectual developmental disorder-77 (MRT77; <a href="/entry/619988">619988</a>), <a href="#3" class="mim-tip-reference" title="Khoshbakht, S., Beheshtian, M., Fattahi, Z., Bazazzadegan, N., Parsimehr, E., Fadaee, M., Vazehan, R., Faraji Zonooz, M., Abolhassani, A., Makvand, M., Kariminejad, A., Celik, A., Kahrizi, K., Najmabadi, H. <strong>CEP104 and CEP290; genes with ciliary functions cause intellectual disability in multiple families.</strong> Arch. Iran. Med. 24: 364-373, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34196201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34196201</a>] [<a href="https://doi.org/10.34172/aim.2021.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34196201">Khoshbakht et al. (2021)</a> identified a homozygous 1-bp insertion (c.1901_1902insT, NM_014704) in the CEP104 gene, resulting in a frameshift and premature termination (Leu634PhefsTer33) in the central alpha-helical TOG domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the ClinVar, 1000 Genomes Project, or ExAC databases. Patient-derived lymphoblastoid cells showed a significant reduction in CEP104 transcripts, and Western blot analysis was consistent with low expression of a truncated protein, suggesting incomplete nonsense-mediated mRNA decay. Additional functional studies were not performed. The patient had global developmental delay with normal brain imaging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34196201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77</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> rs759675006 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs759675006;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/rs759675006?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=rs759675006" 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=rs759675006" 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 7.5-year-old girl, born of consanguineous Iranian parents, with autosomal recessive intellectual developmental disorder-77 (MRT77; <a href="/entry/619988">619988</a>), <a href="#1" class="mim-tip-reference" title="Badv, R. S., Mahdiannasser, M., Rasoulinezhad, M., Habibi, L., Rashidi-Nezhad, A. <strong>CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert (sic) syndrome.</strong> Molec. Biol. Rep. 49: 7231-7237, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35359234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35359234</a>] [<a href="https://doi.org/10.1007/s11033-022-07353-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35359234">Badv et al. (2022)</a> identified a homozygous c.643C-T transition (c.643C-T, NM_014704.3) in the CEP104 gene, resulting in an arg215-to-ter (R215X) substitution. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not reported in the 1000 Genomes Project database. Functional studies of the variant and studies of patient cells were not performed. The patient had global developmental delay with normal brain imaging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35359234" 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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Badv, R. S., Mahdiannasser, M., Rasoulinezhad, M., Habibi, L., Rashidi-Nezhad, A.
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<strong>CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert (sic) syndrome.</strong>
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Molec. Biol. Rep. 49: 7231-7237, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35359234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35359234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35359234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/11/2015.
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Khoshbakht, S., Beheshtian, M., Fattahi, Z., Bazazzadegan, N., Parsimehr, E., Fadaee, M., Vazehan, R., Faraji Zonooz, M., Abolhassani, A., Makvand, M., Kariminejad, A., Celik, A., Kahrizi, K., Najmabadi, H.
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<strong>CEP104 and CEP290; genes with ciliary functions cause intellectual disability in multiple families.</strong>
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Arch. Iran. Med. 24: 364-373, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34196201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34196201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34196201" 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/10.34172/aim.2021.53" target="_blank">Full Text</a>]
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Kumar, K. N., Babcock, K. K., Johnson, P. S., Ahmad, C. M., Michaelis, E. K.
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<strong>Cloning of the cDNA for brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein.</strong>
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Biochem. Biophys. Res. Commun. 216: 390-398, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7488117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7488117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7488117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1995.2636" target="_blank">Full Text</a>]
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Satish Tammana, T. V., Tammana, D., Diener, D. R., Rosenbaum, J.
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<strong>Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.</strong>
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J. Cell Sci. 126: 5018-5029, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23970417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23970417</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23970417[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=23970417" 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/10.1242/jcs.133439" target="_blank">Full Text</a>]
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Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others.
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<strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong>
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Am. J. Hum. Genet. 97: 744-753, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26477546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26477546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26477546[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=26477546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 08/08/2022
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Cassandra L. Kniffin - updated : 2/2/2016<br>Matthew B. Gross - updated : 12/11/2015
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ckniffin : 08/08/2022<br>carol : 02/02/2016<br>ckniffin : 2/2/2016<br>mgross : 12/15/2015<br>mgross : 12/11/2015
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<h3>
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<span class="mim-font">
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<strong>*</strong> 616690
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</h3>
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<h3>
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<span class="mim-font">
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CENTROSOMAL PROTEIN, 104-KD; CEP104
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</h3>
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<br />
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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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<h4>
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<span class="mim-font">
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GLYCINE-, GLUTAMATE-, AND THIENYLCYCLOHEXYLPIPERIDINE-BINDING PROTEIN; GLYBP<br />
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FAP256, CHLAMYDOMONAS, HOMOLOG OF<br />
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KIAA0562
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CEP104</em></strong>
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</span>
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</p>
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</div>
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<p>
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<strong>
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<em>
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Cytogenetic location: 1p36.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:3,812,086-3,857,211 </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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<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="2">
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<span class="mim-font">
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1p36.32
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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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Intellectual developmental disorder, autosomal recessive 77
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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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619988
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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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<td>
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<span class="mim-font">
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Joubert syndrome 25
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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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616781
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</td>
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>CEP104 localizes on the distal ends of both centrioles of nondividing cells until the mother centriole forms a cilium and then localizes at the tip of the elongating cilium. It appears to be required for both ciliogenesis and for structural integrity at the ciliary tip (Satish Tammana et al., 2013). </p>
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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>Using polyclonal antibodies to immunopurify a protein with ligand recognition sites similar to those of brain NMDA receptors (see GRIN1, 138249) from rat brain synaptic membrane, followed by screening a rat hippocampus cDNA expression library, Kumar et al. (1995) cloned Cep104, which they called Glybp. The deduced 470-amino acid protein contains 2 glycosylation sites, 3 hydrophobic regions, 4 cys-rich motifs, and 2 regions of homology with Grin1. Northern blot analysis revealed expression of a 1.9-kb transcript in rat cortex, hippocampus, cerebellum, and brainstem. </p><p>By screening for large proteins expressed in brain, Nagase et al. (1998) cloned human CEP104, which they called KIAA0562. The predicted 925-amino acid protein shares significant homology with rat Glybp. RT-PCR analysis detected variable expression in all human tissues examined, with highest levels in kidney and skeletal muscle and lowest levels in testis and spleen. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using confocal microscopy of human RPE1 retinal pigment epithelial cells starved to induce cilia formation, Satish Tammana et al. (2013) demonstrated localization of CEP104 to the tip of the primary cilium as well as at the distal end in the daughter centriole, but not the mother centriole. CEP104 remained at the ciliary tip during ciliary resorption and localized to centrioles during cell division. RNA interference experiments showed that CEP104 was required for ciliogenesis in RPE1 cells, similar to findings for its Chlamydomonas ortholog, Fap256. Satish Tammana et al. (2013) proposed that CEP104 has functions at the centriole to initiate ciliogenesis and at the ciliary tip, where it is required for formation or stability of specializations characteristic of the tip. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, Nagase et al. (1998) mapped the CEP104 gene to chromosome 1. Gross (2015) mapped the CEP104 gene to chromosome 1p36.32 based on an alignment of the CEP104 sequence (GenBank BC047450) with the genomic sequence (GRCh38). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Joubert Syndrome 25</em></strong></p><p>
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In 3 unrelated children with Joubert syndrome-25 (JBTS25; 616781), Srour et al. (2015) identified homozygous or compound heterozygous mutations in the CEP104 gene (616690.0001-616690.0003). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies and studies on patient cells were not performed. </p><p><strong><em>Autosomal Recessive Intellectual Developmental Disorder 77</em></strong></p><p>
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In 4 patients from 2 unrelated consanguineous Iranian families (families 8800138 and 9100012), with autosomal recessive intellectual developmental disorder-77 (MRT77; 619988), Khoshbakht et al. (2021) identified homozygous frameshift mutations in the CEP104 gene (616690.0005 and 616690.0006). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Neither was present in the ClinVar, 1000 Genomes Project, or ExAC databases. Patient-derived lymphoblastoid cells showed a significant reduction in CEP104 transcripts, although Western blot analysis was consistent with low expression of a truncated protein, suggesting incomplete nonsense-mediated mRNA decay. Additional functional studies were not performed. The patients had global developmental delay with normal brain imaging, thus distinguishing the phenotype from Joubert syndrome. </p><p>In a 7.5-year-old girl, born of consanguineous Iranian parents, with MRT77, Badv et al. (2022) identified a homozygous nonsense mutation in the CEP104 gene (R215X; 616690.0007). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not reported in the 1000 Genomes Project database. Functional studies of the variant and studies of patient cells were not performed. The patient had global developmental delay with normal brain imaging. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 JOUBERT SYNDROME 25</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP104, IVS7DS, T-C, +2
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<br />
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SNP: rs869025276,
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ClinVar: RCV000207253, RCV003441789
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 2.5-year-old girl (patient 1763.618) of French Canadian descent with Joubert syndrome-25 (JBTS25; 616781), Srour et al. (2015) identified a homozygous T-to-C transition in intron 7 of the CEP104 gene (c.735+2T-C, NM_014704.3), predicted to result in a splice site aberration and skipping of exon 7. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 201 in-house control exomes. Functional studies and studies on patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 JOUBERT SYNDROME 25</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP104, 1-BP INS, 1328T
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<br />
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SNP: rs869025277,
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ClinVar: RCV000207071
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3.5-year-old boy (patient 842629), born of consanguineous Arab-Israeli parents, with Joubert syndrome-25 (JBTS25; 616781), Srour et al. (2015) identified a homozygous 1-bp insertion (c.1328_1329insT, NM_014704.3) in the CEP104 gene, resulting in a frameshift and premature termination (Tyr444fsTer3). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was nor found in the dbSNP, 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 350 in-house ethnically matched exomes. Functional studies and studies on patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 JOUBERT SYNDROME 25</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP104, ARG166TER
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<br />
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SNP: rs374574638,
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gnomAD: rs374574638,
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ClinVar: RCV000207197
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 28-month-old boy (patient GeneDX01) with Joubert syndrome-25 (JBTS25; 616781), Srour et al. (2015) identified compound heterozygous mutations in the CEP104 gene: a c.496C-T transition (c.496C-T, NM014704.3), resulting in an arg166-to-ter (R166X) substitution, and an A-to-G transition in intron 20 (c.2572-2A-G; 616690.0004), predicted to result in a splice site mutation. The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. The R166X mutation was inherited from the unaffected mother, whereas the splice site mutation occurred de novo. The R166X variant was found at very low frequencies in the Exome Variant Server and ExAC databases, whereas the splice site mutation was not found in either of these databases. Functional studies and studies on patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 JOUBERT SYNDROME 25</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP104, IVS20AS, A-G, -2
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<br />
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SNP: rs869025278,
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ClinVar: RCV000207283
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the A-to-G transition in intron 20 of the CEP104 gene (c.2572-2A-G, NM_014704.3), predicted to result in a splice site mutation, that was found in compound heterozygous state in a patient with Joubert syndrome-25 (JBTS25; 616781) by Srour et al. (2015), see 616690.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP104, 2-BP INS, 2356TT
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<br />
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SNP: rs2124647615,
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ClinVar: RCV002274823
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 10-year-old boy, born of consanguineous Iranian parents (family 8800138), with autosomal recessive intellectual developmental disorder-77 (MRT77; 619988), Khoshbakht et al. (2021) identified a homozygous 2-bp insertion (c.2356_2357insTT, NM_014704) in the CEP104 gene, resulting in a frameshift and premature termination (Cys786PhefsTer11) in the C-terminal domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the ClinVar, 1000 Genomes Project, or ExAC databases. Patient-derived lymphoblastoid cells showed a significant reduction in CEP104 transcripts, and Western blot analysis was consistent with low expression of a truncated protein, suggesting incomplete nonsense-mediated mRNA decay. Additional functional studies were not performed. The patient had global developmental delay with normal brain imaging. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CEP104, 1-BP INS, 1901T
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<br />
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SNP: rs1411591918,
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gnomAD: rs1411591918,
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ClinVar: RCV002274824
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 sibs, born of consanguineous Iranian parents (family 9100012), with autosomal recessive intellectual developmental disorder-77 (MRT77; 619988), Khoshbakht et al. (2021) identified a homozygous 1-bp insertion (c.1901_1902insT, NM_014704) in the CEP104 gene, resulting in a frameshift and premature termination (Leu634PhefsTer33) in the central alpha-helical TOG domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not present in the ClinVar, 1000 Genomes Project, or ExAC databases. Patient-derived lymphoblastoid cells showed a significant reduction in CEP104 transcripts, and Western blot analysis was consistent with low expression of a truncated protein, suggesting incomplete nonsense-mediated mRNA decay. Additional functional studies were not performed. The patient had global developmental delay with normal brain imaging. </p>
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<span class="mim-font">
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<strong>.0007 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77</strong>
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</h4>
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<span class="mim-text-font">
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CEP104, ARG215TER
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<br />
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SNP: rs759675006,
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gnomAD: rs759675006,
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ClinVar: RCV002274825
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<p>In a 7.5-year-old girl, born of consanguineous Iranian parents, with autosomal recessive intellectual developmental disorder-77 (MRT77; 619988), Badv et al. (2022) identified a homozygous c.643C-T transition (c.643C-T, NM_014704.3) in the CEP104 gene, resulting in an arg215-to-ter (R215X) substitution. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not reported in the 1000 Genomes Project database. Functional studies of the variant and studies of patient cells were not performed. The patient had global developmental delay with normal brain imaging. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p class="mim-text-font">
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Badv, R. S., Mahdiannasser, M., Rasoulinezhad, M., Habibi, L., Rashidi-Nezhad, A.
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<strong>CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert (sic) syndrome.</strong>
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Molec. Biol. Rep. 49: 7231-7237, 2022.
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[PubMed: 35359234]
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[Full Text: https://doi.org/10.1007/s11033-022-07353-w]
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</li>
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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. 12/11/2015.
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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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Khoshbakht, S., Beheshtian, M., Fattahi, Z., Bazazzadegan, N., Parsimehr, E., Fadaee, M., Vazehan, R., Faraji Zonooz, M., Abolhassani, A., Makvand, M., Kariminejad, A., Celik, A., Kahrizi, K., Najmabadi, H.
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<strong>CEP104 and CEP290; genes with ciliary functions cause intellectual disability in multiple families.</strong>
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Arch. Iran. Med. 24: 364-373, 2021.
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[PubMed: 34196201]
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[Full Text: https://doi.org/10.34172/aim.2021.53]
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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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Kumar, K. N., Babcock, K. K., Johnson, P. S., Ahmad, C. M., Michaelis, E. K.
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<strong>Cloning of the cDNA for brain glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein.</strong>
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Biochem. Biophys. Res. Commun. 216: 390-398, 1995.
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[PubMed: 7488117]
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[Full Text: https://doi.org/10.1006/bbrc.1995.2636]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: 9628581]
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[Full Text: https://doi.org/10.1093/dnares/5.1.31]
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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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Satish Tammana, T. V., Tammana, D., Diener, D. R., Rosenbaum, J.
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<strong>Centrosomal protein CEP104 (Chlamydomonas FAP256) moves to the ciliary tip during ciliary assembly.</strong>
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J. Cell Sci. 126: 5018-5029, 2013.
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[PubMed: 23970417]
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[Full Text: https://doi.org/10.1242/jcs.133439]
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</li>
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<p class="mim-text-font">
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Srour, M., Hamdan, F. F., McKnight, D., Davis, E., Mandel, H., Schwartzentruber, J., Martin, B., Patry, L., Nassif, C., Dionne-Laporte, A., Ospina, L. H., Lemyre, E., and 22 others.
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<strong>Joubert syndrome in French Canadians and identification of mutations in CEP104.</strong>
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Am. J. Hum. Genet. 97: 744-753, 2015.
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[PubMed: 26477546]
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[Full Text: https://doi.org/10.1016/j.ajhg.2015.09.009]
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Cassandra L. Kniffin - updated : 08/08/2022<br>Cassandra L. Kniffin - updated : 2/2/2016<br>Matthew B. Gross - updated : 12/11/2015
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alopez : 08/09/2022<br>ckniffin : 08/08/2022<br>carol : 02/02/2016<br>ckniffin : 2/2/2016<br>mgross : 12/15/2015<br>mgross : 12/11/2015
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