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Entry
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- *609577 - CULLIN 7; CUL7
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- OMIM
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<p>
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<span class="h4">*609577</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/609577">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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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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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 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=ENSG00000044090;t=ENST00000265348" 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=9820" 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=609577" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000044090;t=ENST00000265348" 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_001168370,NM_001374872,NM_001374873,NM_001374874,NM_014780,XM_005249503,XM_011515019,XM_011515020,XM_011515021,XM_017011533,XM_017011534,XM_017011535,XM_047419600,XM_047419601" 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_014780" 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=609577" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=09901&isoform_id=09901_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CUL7" 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/21707140,41872646,119624549,119624550,158259073,160370003,194380270,444738789,767941062,929653766,1767160133,1767160155,1767160180,1767180437,2217363818,2217363820,2217363822,2217363824,2217363826,2217363828,2217363830,2217363833,2462611605,2462611607,2462611609,2462611611,2462611613,2462611615,2462611617,2462611619,2462611621" 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/Q14999" 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=9820" 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=ENSG00000044090;t=ENST00000265348" 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=CUL7" 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=CUL7" 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+9820" 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/CUL7" 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:9820" 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/9820" 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=chr6&hgg_gene=ENST00000673761.1&hgg_start=43037617&hgg_end=43053851&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://medlineplus.gov/genetics/gene/cul7" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609577[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 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=609577[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/CUL7/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000044090" 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=CUL7" 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=CUL7" 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=CUL7" 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=CUL7&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/PA134897835" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:21024" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1913765" 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/CUL7#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:1913765" 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/9820/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=9820" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9820" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CUL7&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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609577
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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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CULLIN 7; CUL7
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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">
|
|
KIAA0076
|
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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=CUL7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CUL7</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/6/514?start=-3&limit=10&highlight=514">6p21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:43037617-43053851&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'})">6:43,037,617-43,053,851</a> </span>
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/514?start=-3&limit=10&highlight=514">
|
|
6p21.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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3-M syndrome 1
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/273750"> 273750 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal 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">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609577" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609577" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
|
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<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated human immature myeloid cell line cDNA library, <a href="#6" class="mim-tip-reference" title="Nomura, N., Nagase, T., Miyajima, N., Sazuka, T., Tanaka, A., Sato, S., Seki, N., Kawarabayasi, Y., Ishikawa, K., Tabata, S. <strong>Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.</strong> DNA Res. 1: 223-229, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584044</a>] [<a href="https://doi.org/10.1093/dnares/1.5.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7584044">Nomura et al. (1994)</a> cloned CUL7, which they designated KIAA0076. The deduced 1,698-amino acid protein contains an ATP/GTP-binding site motif A and motifs found in mitochondrial energy transfer proteins. Northern blot analysis detected CUL7 expression in all tissues and cell lines tested except testis and small intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584044" 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 immunoprecipitating proteins that interacted with epitope-tagged ROC1 (RBX1; <a href="/entry/603814">603814</a>) in human embryonic kidney cells, <a href="#2" class="mim-tip-reference" title="Dias, D. C., Dolios, G., Wang, R., Pan, Z.-Q. <strong>CUL7: A DOC domain-containing cullin selectively binds Skp1-Fbx29 to form an SCF-like complex.</strong> Proc. Nat. Acad. Sci. 99: 16601-16606, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12481031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12481031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12481031[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.252646399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12481031">Dias et al. (2002)</a> identified CUL7. The N-terminal half of CUL7 contains a 72-amino acid domain enriched in glycine and acidic residues that is similar to a corresponding region in HERC2 (<a href="/entry/605837">605837</a>). CUL7 also has a central DOC domain and a C-terminal cullin domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12481031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Dias, D. C., Dolios, G., Wang, R., Pan, Z.-Q. <strong>CUL7: A DOC domain-containing cullin selectively binds Skp1-Fbx29 to form an SCF-like complex.</strong> Proc. Nat. Acad. Sci. 99: 16601-16606, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12481031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12481031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12481031[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.252646399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12481031">Dias et al. (2002)</a> found that CUL7 assembled an SCF (see CUL1; <a href="/entry/603134">603134</a>)-ROC1-like E3 ligase complex containing SKP1 (<a href="/entry/601434">601434</a>), CUL7, FBX29 (FBXW8; <a href="/entry/609073">609073</a>), and ROC1 in human embryonic kidney cells. CUL7 specifically interacted with SKP1-FBX29, but not with SKP1 alone. CUL7 did not interact with SKP1-beta-TRCP2 (FBXW11; <a href="/entry/605651">605651</a>) or SKP1-SKP2 (<a href="/entry/601436">601436</a>). Immunoprecipitated CUL7-ROC1 complexes converted monomeric ubiquitin into high molecular mass ubiquitin conjugates when incubated with E1 (see UBE1C; <a href="/entry/603172">603172</a>) and UBC5C (UBE2D3; <a href="/entry/602963">602963</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12481031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arai, T., Kasper, J. S., Skaar, J. R., Ali, S. H., Takahashi, C., DeCaprio, J. A. <strong>Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis.</strong> Proc. Nat. Acad. Sci. 100: 9855-9860, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12904573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12904573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12904573[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1733908100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12904573">Arai et al. (2003)</a> found that mouse Cul7, which they designated p185, formed a specific SCF-like complex with Skp1, Fbx29, Rbx1, and Fap68 (GLMN; <a href="/entry/601749">601749</a>). Cul7 associated with Skp1 in an Fbx29-dependent manner, and Fbx29 protein stability decreased in the absence of Cul7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12904573" 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 PCR of a human/rodent hybrid panel, <a href="#6" class="mim-tip-reference" title="Nomura, N., Nagase, T., Miyajima, N., Sazuka, T., Tanaka, A., Sato, S., Seki, N., Kawarabayasi, Y., Ishikawa, K., Tabata, S. <strong>Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.</strong> DNA Res. 1: 223-229, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584044</a>] [<a href="https://doi.org/10.1093/dnares/1.5.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7584044">Nomura et al. (1994)</a> mapped the CUL7 gene to chromosome 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584044" 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>The 3M syndrome (<a href="/entry/273750">273750</a>) is an autosomal recessive condition characterized by pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. <a href="#4" class="mim-tip-reference" title="Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Giovannucci Uzielli, M. L., Dagoneau, N., Chemaitilly, W., and 16 others. <strong>Identification of mutations in CUL7 in 3-M syndrome.</strong> Nature Genet. 37: 1119-1124, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16142236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16142236</a>] [<a href="https://doi.org/10.1038/ng1628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16142236">Huber et al. (2005)</a> used homozygosity mapping in 7 consanguineous families with 3M syndrome to show linkage of the underlying gene to a 3.84-Mb interval on 6p21.1. A search of human genome resources identified several putative disease-associated genes in the linkage region. Nine of these genes were excluded because no mutations were identified in them in 4 affected children of distinct ethnic origin by direct sequencing. The CUL7 gene also resided in the same region and was considered a good candidate because of data from the Cul7 gene-targeted mouse model. Direct sequencing of CUL7 in individuals with 3M syndrome detected 25 distinct mutations (see, e.g. <a href="#0001">609577.0001</a>-<a href="/entry/607577#0003">607577.0003</a>). Of these, 19 predicted premature termination of translation and 6 were missense mutations. The patients with mutations in CUL7 included some who had been diagnosed with gloomy face syndrome (also known as Le Merrer syndrome), thus indicating that 'lumping' of these 2 conditions is justified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16142236" 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 all 43 affected individuals with Yakut short stature syndrome, <a href="#5" class="mim-tip-reference" title="Maksimova, N., Hara, K., Miyashia, A., Nikolaeva, I., Shiga, A., Nogovicina, A., Sukhomyasova, A., Argunov, V., Shvedova, A., Ikeuchi, T., Nishizawa, M., Kuwano, R., Onodera, O. <strong>Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.</strong> J. Med. Genet. 44: 772-778, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17675530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17675530</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17675530[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.051979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17675530">Maksimova et al. (2007)</a> identified homozygosity for a founder mutation in the CUL7 gene (<a href="#0004">609577.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17675530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Huber, C., Delezoide, A.-L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., and 23 others. <strong>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.</strong> Europ. J. Hum. Genet. 17: 395-400, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19225462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19225462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19225462[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19225462">Huber et al. (2009)</a> identified homozygous or compound heterozygous CUL7 mutations (see, e.g., <a href="#0005">609577.0005</a>-<a href="#0007">609577.0007</a>) in 23 of 33 patients with the 3M syndrome. Nineteen novel mutations throughout the gene were identified, including 1 case of paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19225462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Arai, T., Kasper, J. S., Skaar, J. R., Ali, S. H., Takahashi, C., DeCaprio, J. A. <strong>Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis.</strong> Proc. Nat. Acad. Sci. 100: 9855-9860, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12904573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12904573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12904573[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1733908100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12904573">Arai et al. (2003)</a> found that deletion of Cul7 in mice was neonatal lethal due to respiratory distress. A fraction of embryos were lost during embryonic days 10.5 to 12.5. At embryonic day 12.5, Cul7-null embryos were similar in size and weight to wildtype littermates, whereas mutant placentas were significantly reduced in size. Growth retardation of Cul7-null embryos became increasingly apparent relative to wildtype littermates in later gestational stages. Dermal and hypodermal hemorrhage was detected in mutant embryos at late gestational stage. Cul7-null placentas showed defects in differentiation of the trophoblast lineage with an abnormal vascular structure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12904573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 consanguineous Sri Lankan families with 3M syndrome-1 (3M1; <a href="/entry/273750">273750</a>), <a href="#4" class="mim-tip-reference" title="Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Giovannucci Uzielli, M. L., Dagoneau, N., Chemaitilly, W., and 16 others. <strong>Identification of mutations in CUL7 in 3-M syndrome.</strong> Nature Genet. 37: 1119-1124, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16142236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16142236</a>] [<a href="https://doi.org/10.1038/ng1628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16142236">Huber et al. (2005)</a> found that affected individuals had an 4333C-T transition in exon 23 of the CUL7 gene, resulting in conversion of arg1445 to a stop codon in the cullin domain of the protein (R1445X). Additional studies indicated that the mutation rendered CUL7 deficient in recruiting ROC1 (<a href="/entry/603814">603814</a>) to the E3 ubiquitin ligase complex of which it is a part. A founder effect appeared clearly to be involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16142236" 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> rs121918229 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918229;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/rs121918229?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=rs121918229" 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=rs121918229" 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=RCV000001681 OR RCV002281688 OR RCV004719608" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001681, RCV002281688, RCV004719608" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001681...</a>
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<p>In 2 consanguineous Italian families with 3M syndrome-1 (3M1; <a href="/entry/273750">273750</a>), <a href="#4" class="mim-tip-reference" title="Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Giovannucci Uzielli, M. L., Dagoneau, N., Chemaitilly, W., and 16 others. <strong>Identification of mutations in CUL7 in 3-M syndrome.</strong> Nature Genet. 37: 1119-1124, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16142236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16142236</a>] [<a href="https://doi.org/10.1038/ng1628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16142236">Huber et al. (2005)</a> found that affected individuals were homozygous for a 4391A-C transversion in exon 23 of the CUL7 gene, resulting in a his1464-to-pro (H1464P) substitution. Founder effect was presumably involved and was supported by the fact that the 2 families came from the same village. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16142236" 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">rs730880261 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880261;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=rs730880261" 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=rs730880261" 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=RCV000001682 OR RCV003390632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001682, RCV003390632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001682...</a>
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<p>In 5 consanguineous families, 4 from Tunisia and 1 from Algeria, with 3M syndrome-1 (3M1; <a href="/entry/273750">273750</a>), <a href="#4" class="mim-tip-reference" title="Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Giovannucci Uzielli, M. L., Dagoneau, N., Chemaitilly, W., and 16 others. <strong>Identification of mutations in CUL7 in 3-M syndrome.</strong> Nature Genet. 37: 1119-1124, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16142236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16142236</a>] [<a href="https://doi.org/10.1038/ng1628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16142236">Huber et al. (2005)</a> identified an identical 2-bp deletion in exon 24 of the CUL7, resulting in a val1484-to-gly substitution and a frameshift leading to termination 68 codons downstream (Val1484GlyfsTer68). The presence of the same deletion in multiple consanguineous families suggested a founder effect in this region of North Africa. <a href="#4" class="mim-tip-reference" title="Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Giovannucci Uzielli, M. L., Dagoneau, N., Chemaitilly, W., and 16 others. <strong>Identification of mutations in CUL7 in 3-M syndrome.</strong> Nature Genet. 37: 1119-1124, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16142236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16142236</a>] [<a href="https://doi.org/10.1038/ng1628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16142236">Huber et al. (2005)</a> reported the deletion as 4449_4450delTG, but <a href="#3" class="mim-tip-reference" title="Huber, C., Delezoide, A.-L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., and 23 others. <strong>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.</strong> Europ. J. Hum. Genet. 17: 395-400, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19225462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19225462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19225462[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19225462">Huber et al. (2009)</a> reported it as 4450_4451delTG. Also see <a href="#0005">609577.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19225462+16142236" 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>.0004 YAKUT SHORT STATURE SYNDROME</strong>
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CUL7, 1-BP INS, 4582T
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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> rs730880301 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880301;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/rs730880301?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=rs730880301" 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=rs730880301" 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=RCV000001683" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001683" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001683</a>
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<p>In all 43 affected Yakut individuals with Yakut short stature syndrome (see <a href="/entry/273750">273750</a>), <a href="#5" class="mim-tip-reference" title="Maksimova, N., Hara, K., Miyashia, A., Nikolaeva, I., Shiga, A., Nogovicina, A., Sukhomyasova, A., Argunov, V., Shvedova, A., Ikeuchi, T., Nishizawa, M., Kuwano, R., Onodera, O. <strong>Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.</strong> J. Med. Genet. 44: 772-778, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17675530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17675530</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17675530[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2007.051979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17675530">Maksimova et al. (2007)</a> identified a homozygous 1-bp insertion (4582_4583insT) in the CUL7 gene, resulting in a frameshift and premature termination. As the Yakuts are considered a population isolate, the mutation is likely due to a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17675530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 THREE M SYNDROME 1</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001682 OR RCV003390632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001682, RCV003390632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001682...</a>
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<p>In 2 unrelated patients with 3M syndrome-1 (3M1; <a href="/entry/273750">273750</a>), <a href="#3" class="mim-tip-reference" title="Huber, C., Delezoide, A.-L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., and 23 others. <strong>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.</strong> Europ. J. Hum. Genet. 17: 395-400, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19225462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19225462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19225462[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19225462">Huber et al. (2009)</a> identified a homozygous 2-bp deletion (4449_4450delGT) in exon 24 of the CUL7 gene, resulting in a frameshift and premature termination after 68 codons downstream (Val1484GlyfsTer68). Both patients were born of consanguineous parents, from Algeria and Morocco, respectively. In an unrelated Italian patient, the authors identified compound heterozygosity for the 2-bp deletion and a C-to-A transversion (1570-3C-A; <a href="#0007">609577.0007</a>) in intron 6 of the CUL7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19225462" 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> rs730880262 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880262;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/rs730880262?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=rs730880262" 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=rs730880262" 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=RCV000001685 OR RCV001588795" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001685, RCV001588795" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001685...</a>
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<p>In 2 unrelated patients with 3M syndrome-1 (3M1; <a href="/entry/273750">273750</a>), <a href="#3" class="mim-tip-reference" title="Huber, C., Delezoide, A.-L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., and 23 others. <strong>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.</strong> Europ. J. Hum. Genet. 17: 395-400, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19225462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19225462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19225462[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19225462">Huber et al. (2009)</a> identified a homozygous 2-bp deletion (3379_3380delTG) in exon 18 of the CUL7 gene, resulting in a frameshift and premature termination. Both patients were born of consanguineous parents, from India and Pakistan, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19225462" 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 THREE M SYNDROME 1</strong>
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CUL7, IVS6AS, C-A, -3
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730880263 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730880263;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=rs730880263" 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=rs730880263" 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=RCV000001686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001686</a>
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<p>For discussion of splice site mutation in intron 6 of the CUL7 gene (1570-3C-A) that was found in compound heterozygous state in a patient with 3M syndrome-1 (3M1; <a href="/entry/273750">273750</a>) by <a href="#3" class="mim-tip-reference" title="Huber, C., Delezoide, A.-L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., and 23 others. <strong>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.</strong> Europ. J. Hum. Genet. 17: 395-400, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19225462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19225462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19225462[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2008.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19225462">Huber et al. (2009)</a>, see <a href="#0005">609577.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19225462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Arai2003" class="mim-anchor"></a>
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Arai, T., Kasper, J. S., Skaar, J. R., Ali, S. H., Takahashi, C., DeCaprio, J. A.
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<strong>Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis.</strong>
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Proc. Nat. Acad. Sci. 100: 9855-9860, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12904573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12904573</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12904573[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=12904573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1733908100" target="_blank">Full Text</a>]
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<a id="Dias2002" class="mim-anchor"></a>
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Dias, D. C., Dolios, G., Wang, R., Pan, Z.-Q.
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<strong>CUL7: A DOC domain-containing cullin selectively binds Skp1-Fbx29 to form an SCF-like complex.</strong>
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Proc. Nat. Acad. Sci. 99: 16601-16606, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12481031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12481031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12481031[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=12481031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.252646399" target="_blank">Full Text</a>]
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<a id="Huber2009" class="mim-anchor"></a>
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<p class="mim-text-font">
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Huber, C., Delezoide, A.-L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., and 23 others.
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<strong>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.</strong>
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Europ. J. Hum. Genet. 17: 395-400, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19225462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19225462</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19225462[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=19225462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2008.200" target="_blank">Full Text</a>]
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<a id="Huber2005" class="mim-anchor"></a>
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Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Giovannucci Uzielli, M. L., Dagoneau, N., Chemaitilly, W., and 16 others.
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<strong>Identification of mutations in CUL7 in 3-M syndrome.</strong>
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Nature Genet. 37: 1119-1124, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16142236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16142236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16142236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1628" target="_blank">Full Text</a>]
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Maksimova, N., Hara, K., Miyashia, A., Nikolaeva, I., Shiga, A., Nogovicina, A., Sukhomyasova, A., Argunov, V., Shvedova, A., Ikeuchi, T., Nishizawa, M., Kuwano, R., Onodera, O.
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<strong>Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.</strong>
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J. Med. Genet. 44: 772-778, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17675530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17675530</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17675530[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=17675530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2007.051979" target="_blank">Full Text</a>]
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<a id="Nomura1994" class="mim-anchor"></a>
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Nomura, N., Nagase, T., Miyajima, N., Sazuka, T., Tanaka, A., Sato, S., Seki, N., Kawarabayasi, Y., Ishikawa, K., Tabata, S.
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<strong>Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.</strong>
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DNA Res. 1: 223-229, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7584044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7584044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7584044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/1.5.223" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 9/25/2009
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Cassandra L. Kniffin - updated : 1/9/2008<br>Victor A. McKusick - updated : 9/21/2005
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Patricia A. Hartz : 9/13/2005
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alopez : 06/30/2021
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carol : 02/11/2015<br>mcolton : 2/10/2015<br>carol : 9/24/2013<br>wwang : 10/15/2009<br>ckniffin : 9/25/2009<br>wwang : 1/23/2008<br>ckniffin : 1/9/2008<br>alopez : 10/14/2005<br>alopez : 9/22/2005<br>terry : 9/21/2005<br>mgross : 9/13/2005
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<strong>*</strong> 609577
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CULLIN 7; CUL7
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KIAA0076
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 6p21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:43,037,617-43,053,851 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
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>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
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<tr>
|
|
<td rowspan="1">
|
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<span class="mim-font">
|
|
6p21.1
|
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</span>
|
|
</td>
|
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|
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<td>
|
|
<span class="mim-font">
|
|
3-M syndrome 1
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
273750
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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|
|
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|
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</tr>
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|
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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|
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>By sequencing clones obtained from a size-fractionated human immature myeloid cell line cDNA library, Nomura et al. (1994) cloned CUL7, which they designated KIAA0076. The deduced 1,698-amino acid protein contains an ATP/GTP-binding site motif A and motifs found in mitochondrial energy transfer proteins. Northern blot analysis detected CUL7 expression in all tissues and cell lines tested except testis and small intestine. </p><p>By immunoprecipitating proteins that interacted with epitope-tagged ROC1 (RBX1; 603814) in human embryonic kidney cells, Dias et al. (2002) identified CUL7. The N-terminal half of CUL7 contains a 72-amino acid domain enriched in glycine and acidic residues that is similar to a corresponding region in HERC2 (605837). CUL7 also has a central DOC domain and a C-terminal cullin domain. </p>
|
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</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>Dias et al. (2002) found that CUL7 assembled an SCF (see CUL1; 603134)-ROC1-like E3 ligase complex containing SKP1 (601434), CUL7, FBX29 (FBXW8; 609073), and ROC1 in human embryonic kidney cells. CUL7 specifically interacted with SKP1-FBX29, but not with SKP1 alone. CUL7 did not interact with SKP1-beta-TRCP2 (FBXW11; 605651) or SKP1-SKP2 (601436). Immunoprecipitated CUL7-ROC1 complexes converted monomeric ubiquitin into high molecular mass ubiquitin conjugates when incubated with E1 (see UBE1C; 603172) and UBC5C (UBE2D3; 602963). </p><p>Arai et al. (2003) found that mouse Cul7, which they designated p185, formed a specific SCF-like complex with Skp1, Fbx29, Rbx1, and Fap68 (GLMN; 601749). Cul7 associated with Skp1 in an Fbx29-dependent manner, and Fbx29 protein stability decreased in the absence of Cul7. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By PCR of a human/rodent hybrid panel, Nomura et al. (1994) mapped the CUL7 gene to chromosome 6. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The 3M syndrome (273750) is an autosomal recessive condition characterized by pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Huber et al. (2005) used homozygosity mapping in 7 consanguineous families with 3M syndrome to show linkage of the underlying gene to a 3.84-Mb interval on 6p21.1. A search of human genome resources identified several putative disease-associated genes in the linkage region. Nine of these genes were excluded because no mutations were identified in them in 4 affected children of distinct ethnic origin by direct sequencing. The CUL7 gene also resided in the same region and was considered a good candidate because of data from the Cul7 gene-targeted mouse model. Direct sequencing of CUL7 in individuals with 3M syndrome detected 25 distinct mutations (see, e.g. 609577.0001-607577.0003). Of these, 19 predicted premature termination of translation and 6 were missense mutations. The patients with mutations in CUL7 included some who had been diagnosed with gloomy face syndrome (also known as Le Merrer syndrome), thus indicating that 'lumping' of these 2 conditions is justified. </p><p>In all 43 affected individuals with Yakut short stature syndrome, Maksimova et al. (2007) identified homozygosity for a founder mutation in the CUL7 gene (609577.0004). </p><p>Huber et al. (2009) identified homozygous or compound heterozygous CUL7 mutations (see, e.g., 609577.0005-609577.0007) in 23 of 33 patients with the 3M syndrome. Nineteen novel mutations throughout the gene were identified, including 1 case of paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Arai et al. (2003) found that deletion of Cul7 in mice was neonatal lethal due to respiratory distress. A fraction of embryos were lost during embryonic days 10.5 to 12.5. At embryonic day 12.5, Cul7-null embryos were similar in size and weight to wildtype littermates, whereas mutant placentas were significantly reduced in size. Growth retardation of Cul7-null embryos became increasingly apparent relative to wildtype littermates in later gestational stages. Dermal and hypodermal hemorrhage was detected in mutant embryos at late gestational stage. Cul7-null placentas showed defects in differentiation of the trophoblast lineage with an abnormal vascular structure. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>7 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 THREE M SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CUL7, ARG1445TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918228,
|
|
|
|
|
|
gnomAD: rs121918228,
|
|
|
|
|
|
ClinVar: RCV000001680, RCV000579106
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 consanguineous Sri Lankan families with 3M syndrome-1 (3M1; 273750), Huber et al. (2005) found that affected individuals had an 4333C-T transition in exon 23 of the CUL7 gene, resulting in conversion of arg1445 to a stop codon in the cullin domain of the protein (R1445X). Additional studies indicated that the mutation rendered CUL7 deficient in recruiting ROC1 (603814) to the E3 ubiquitin ligase complex of which it is a part. A founder effect appeared clearly to be involved. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 THREE M SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CUL7, HIS1464PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918229,
|
|
|
|
|
|
gnomAD: rs121918229,
|
|
|
|
|
|
ClinVar: RCV000001681, RCV002281688, RCV004719608
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 consanguineous Italian families with 3M syndrome-1 (3M1; 273750), Huber et al. (2005) found that affected individuals were homozygous for a 4391A-C transversion in exon 23 of the CUL7 gene, resulting in a his1464-to-pro (H1464P) substitution. Founder effect was presumably involved and was supported by the fact that the 2 families came from the same village. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 THREE M SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CUL7, 2-BP DEL, 4450TG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730880261,
|
|
|
|
|
|
|
|
ClinVar: RCV000001682, RCV003390632
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 consanguineous families, 4 from Tunisia and 1 from Algeria, with 3M syndrome-1 (3M1; 273750), Huber et al. (2005) identified an identical 2-bp deletion in exon 24 of the CUL7, resulting in a val1484-to-gly substitution and a frameshift leading to termination 68 codons downstream (Val1484GlyfsTer68). The presence of the same deletion in multiple consanguineous families suggested a founder effect in this region of North Africa. Huber et al. (2005) reported the deletion as 4449_4450delTG, but Huber et al. (2009) reported it as 4450_4451delTG. Also see 609577.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 YAKUT SHORT STATURE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CUL7, 1-BP INS, 4582T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730880301,
|
|
|
|
|
|
gnomAD: rs730880301,
|
|
|
|
|
|
ClinVar: RCV000001683
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In all 43 affected Yakut individuals with Yakut short stature syndrome (see 273750), Maksimova et al. (2007) identified a homozygous 1-bp insertion (4582_4583insT) in the CUL7 gene, resulting in a frameshift and premature termination. As the Yakuts are considered a population isolate, the mutation is likely due to a founder effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 THREE M SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CUL7, 2-BP DEL, 4449GT
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000001682, RCV003390632
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with 3M syndrome-1 (3M1; 273750), Huber et al. (2009) identified a homozygous 2-bp deletion (4449_4450delGT) in exon 24 of the CUL7 gene, resulting in a frameshift and premature termination after 68 codons downstream (Val1484GlyfsTer68). Both patients were born of consanguineous parents, from Algeria and Morocco, respectively. In an unrelated Italian patient, the authors identified compound heterozygosity for the 2-bp deletion and a C-to-A transversion (1570-3C-A; 609577.0007) in intron 6 of the CUL7 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 THREE M SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CUL7, 2-BP DEL, 3379TG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730880262,
|
|
|
|
|
|
gnomAD: rs730880262,
|
|
|
|
|
|
ClinVar: RCV000001685, RCV001588795
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with 3M syndrome-1 (3M1; 273750), Huber et al. (2009) identified a homozygous 2-bp deletion (3379_3380delTG) in exon 18 of the CUL7 gene, resulting in a frameshift and premature termination. Both patients were born of consanguineous parents, from India and Pakistan, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 THREE M SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CUL7, IVS6AS, C-A, -3
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs730880263,
|
|
|
|
|
|
|
|
ClinVar: RCV000001686
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of splice site mutation in intron 6 of the CUL7 gene (1570-3C-A) that was found in compound heterozygous state in a patient with 3M syndrome-1 (3M1; 273750) by Huber et al. (2009), see 609577.0005. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arai, T., Kasper, J. S., Skaar, J. R., Ali, S. H., Takahashi, C., DeCaprio, J. A.
|
|
<strong>Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 9855-9860, 2003.
|
|
|
|
|
|
[PubMed: 12904573]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.1733908100]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dias, D. C., Dolios, G., Wang, R., Pan, Z.-Q.
|
|
<strong>CUL7: A DOC domain-containing cullin selectively binds Skp1-Fbx29 to form an SCF-like complex.</strong>
|
|
Proc. Nat. Acad. Sci. 99: 16601-16606, 2002.
|
|
|
|
|
|
[PubMed: 12481031]
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[Full Text: https://doi.org/10.1073/pnas.252646399]
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Huber, C., Delezoide, A.-L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., and 23 others.
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<strong>A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.</strong>
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Europ. J. Hum. Genet. 17: 395-400, 2009.
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[PubMed: 19225462]
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[Full Text: https://doi.org/10.1038/ejhg.2008.200]
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Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Giovannucci Uzielli, M. L., Dagoneau, N., Chemaitilly, W., and 16 others.
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<strong>Identification of mutations in CUL7 in 3-M syndrome.</strong>
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Nature Genet. 37: 1119-1124, 2005.
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[PubMed: 16142236]
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[Full Text: https://doi.org/10.1038/ng1628]
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Maksimova, N., Hara, K., Miyashia, A., Nikolaeva, I., Shiga, A., Nogovicina, A., Sukhomyasova, A., Argunov, V., Shvedova, A., Ikeuchi, T., Nishizawa, M., Kuwano, R., Onodera, O.
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<strong>Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.</strong>
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J. Med. Genet. 44: 772-778, 2007.
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[PubMed: 17675530]
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[Full Text: https://doi.org/10.1136/jmg.2007.051979]
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Nomura, N., Nagase, T., Miyajima, N., Sazuka, T., Tanaka, A., Sato, S., Seki, N., Kawarabayasi, Y., Ishikawa, K., Tabata, S.
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<strong>Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.</strong>
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DNA Res. 1: 223-229, 1994.
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[PubMed: 7584044]
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[Full Text: https://doi.org/10.1093/dnares/1.5.223]
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Cassandra L. Kniffin - updated : 9/25/2009<br>Cassandra L. Kniffin - updated : 1/9/2008<br>Victor A. McKusick - updated : 9/21/2005
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