3394 lines
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Entry
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- *608047 - UBIQUITIN-PROTEIN LIGASE E3B; UBE3B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608047</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608047">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>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000151148;t=ENST00000342494" 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=89910" 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=608047" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000151148;t=ENST00000342494" 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_001270449,NM_001270450,NM_001270451,NM_130466,NM_183415,XM_005253987,XM_006719681,XM_006719682,XM_011538959,XM_011538961,XM_017020196,XM_047429844,XM_047429845,XM_047429846,XM_047429847,XM_047429848,XM_047429849,XM_047429850,XM_047429851,XM_047429852,XM_047429853,XM_047429854" 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_130466" 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=608047" 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=06993&isoform_id=06993_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/UBE3B" 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/21450887,30802093,31873308,35493952,35493959,45829585,52545534,80476739,116283633,119618271,119618272,119618273,119618274,146327530,194388132,221043436,223462381,296453010,394025733,394025735,394025737,530401526,578824426,578824428,767975859,767975864,1034582263,2217291934,2217291936,2217291939,2217291941,2217291943,2217291946,2217291948,2217291951,2217291953,2217291955,2217291957,2462535499,2462535501,2462535503,2462535505,2462535507,2462535509,2462535511,2462535513,2462535515,2462535517,2462535519,2462535521,2462535523,2462535525,2462535527,2462535529,2462535531" 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/Q7Z3V4" 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=89910" 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=ENSG00000151148;t=ENST00000342494" 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=UBE3B" 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=UBE3B" 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+89910" 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/UBE3B" 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:89910" 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/89910" 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=chr12&hgg_gene=ENST00000342494.8&hgg_start=109477634&hgg_end=109547829&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13478" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:13478" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ube3b" 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=608047[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608047[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/UBE3B/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/ENSG00000151148" 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=UBE3B" 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=UBE3B" 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=UBE3B" 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=UBE3B&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/PA134872189" 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:13478" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0035953.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1891295" 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/UBE3B#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:1891295" 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/89910/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://omia.org/OMIA001934/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=89910" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003898;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060526-231" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:89910" 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=UBE3B&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 722056009<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608047
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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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UBIQUITIN-PROTEIN LIGASE E3B; UBE3B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=UBE3B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">UBE3B</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
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Cytogenetic location: <a href="/geneMap/12/790?start=-3&limit=10&highlight=790">12q24.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:109477634-109547829&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'})">12:109,477,634-109,547,829</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
|
<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>
|
|
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>
|
|
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>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/790?start=-3&limit=10&highlight=790">
|
|
12q24.11
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Kaufman oculocerebrofacial syndrome
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/244450"> 244450 </a>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<p>Ubiquitination requires the sequential action of 3 enzymes: an activating enzyme (E1), a conjugating enzyme (E2), and a ligase (E3). UBE3B belongs to a class of monomeric ubiquitin ligases that contain a 350-amino acid HECT domain within their active site (<a href="#5" class="mim-tip-reference" title="Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I. <strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong> Genomics 82: 143-152, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837265</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837265">Gong et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using mouse Ube3b as probe, <a href="#5" class="mim-tip-reference" title="Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I. <strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong> Genomics 82: 143-152, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837265</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837265">Gong et al. (2003)</a> cloned UBE3B from a human cDNA library. The deduced 1,068-amino acid protein has a calculated molecular mass of about 123 kD, and the UBE3B transcript contains a 1.9-kb 3-prime untranslated region. Both mouse and human UBE3B contain an N-terminal IQ domain and a C-terminal HECT domain. <a href="#5" class="mim-tip-reference" title="Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I. <strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong> Genomics 82: 143-152, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837265</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837265">Gong et al. (2003)</a> determined that the transcript encoding the 1,068-amino acid protein lacks exon 20. A splice variant that includes exon 20 introduces a stop codon and encodes a deduced 708-amino acid protein with a calculated molecular mass of about 82 kD. This variant lacks the HECT domain. <a href="#5" class="mim-tip-reference" title="Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I. <strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong> Genomics 82: 143-152, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837265</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837265">Gong et al. (2003)</a> also detected splice variants that introduce changes to the 5-prime end of UBE3B. Mouse and human UBE3B share 92% amino acid identity overall and 99% identity in the HECT domain. Homologous sequences were identified in chick (97% amino acid identity) and in lower organisms, including plant. Northern blot analysis detected a transcript of about 5 kb in all mouse tissues examined. Highest levels were detected in brain, heart, and skeletal muscle, and these tissues also showed faint bands of 7.5 and 8.8 kb. RT-PCR detected a transcript lacking exon 20 in all human tissues examined, and a transcript containing exon 20 was detected in most tissues. RT-PCR of mouse and chick tissues detected only transcripts corresponding to the human transcript lacking exon 20. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837265" 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 in situ hybridization in embryonic and postnatal mouse tissues, <a href="#1" class="mim-tip-reference" title="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> found predominant expression of Ube3b in distinct anatomical structures of the developing central nervous system and in craniofacial structures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23200864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I. <strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong> Genomics 82: 143-152, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837265</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837265">Gong et al. (2003)</a> determined that the mouse and human UBE3B genes contain 29 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837265" 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 genomic sequence analysis, <a href="#5" class="mim-tip-reference" title="Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I. <strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong> Genomics 82: 143-152, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837265</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00111-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12837265">Gong et al. (2003)</a> mapped the UBE3B gene to chromosome 12q21.1-q23. They mapped the mouse Ube3b gene to a region of chromosome 5 that shows homology of synteny to human chromosome 12q21.1-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837265" 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="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> demonstrated that the probable C. elegans ortholog of UBE3B, oxi-1, functions in the ubiquitin/proteasome system in vivo and may be required under oxidative stress conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23200864" 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="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> performed exome sequencing of 2 unrelated individuals with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>), which the authors called blepharophimosis-ptosis intellectual disability syndrome (BPIDS), and identified the UBE3B gene as the only gene with rare or unique biallelic damaging variants in both individuals. Individual 1 had a homozygous splice site mutation (c.1741+2T-C; <a href="#0001">608047.0001</a>), which was present in heterozygous state in her unaffected first-cousin parents. Individual 2 and her affected brother, who were previously reported by <a href="#4" class="mim-tip-reference" title="Dentici, M. L., Mingarelli, R., Dallapiccola, B. <strong>The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.</strong> Am. J. Med. Genet. 155A: 459-465, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21567902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21567902</a>] [<a href="https://doi.org/10.1002/ajmg.a.33642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21567902">Dentici et al. (2011)</a>, had a maternally inherited deletion (c.2223_2224delAG; <a href="#0002">608047.0002</a>) and a paternally inherited splice site mutation (c.545-2AG; <a href="#0003">608047.0003</a>). By sequencing the coding exons of the UBE3B gene in a fourth affected individual, <a href="#1" class="mim-tip-reference" title="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> detected another homozygous mutation (E727P; <a href="#0004">608047.0004</a>), which was present in heterozygous state in the patient's unaffected first-cousin parents. None of the mutations were present in 100 ethnically matched control individuals or in the NHLBI Exome Sequencing Project database. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21567902+23200864" 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="#2" class="mim-tip-reference" title="Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G. <strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong> Hum. Genet. 133: 939-949, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>] [<a href="https://doi.org/10.1007/s00439-014-1436-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24615390">Basel-Vanagaite et al. (2014)</a> reported 6 patients from 5 unrelated families with KOS and homozygous or compound heterozygous mutation in the UBE3B gene. They identified homozygous missense mutations in cis outside the HECT domain (<a href="#0005">608047.0005</a>) in a patient with mildly dysmorphic facial features, a homozygous missense mutation (G779R; <a href="#0006">608047.0006</a>) in sibs previously diagnosed with Toriello-Carey syndrome (<a href="/entry/217980">217980</a>), and compound heterozygosity (<a href="#0007">608047.0007</a>; <a href="#0008">608047.0008</a>) in a patient previously reported as having a possibly novel disorder. <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G. <strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong> Hum. Genet. 133: 939-949, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>] [<a href="https://doi.org/10.1007/s00439-014-1436-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24615390">Basel-Vanagaite et al. (2014)</a> stated that their findings brought the number of reported KOS patients to 12 and expanded the clinical and mutational spectrum of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24615390" 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="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> confirmed by quantitative PCR that Ube3b knockdown mice do not express detectable levels of Ube3b mRNA. Ube3b -/- mice had severely reduced body weight, small body size, and reduced brain section area with reduced size of the hippocampus and dentate gyrus, reduced grip strength, reduced low-density lipoprotein levels and a trend toward reduced total and HDL cholesterol levels, mild hearing impairment, and acute inflammation, calcification, and dilated lymphovascular channels of the cornea. <a href="#1" class="mim-tip-reference" title="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> suggested that Ube3b -/- mice are a model of the UBE3B-deficient Kaufman oculocerebrofacial syndrome in anomalies of body and brain size, weight, muscular strength, and cholesterol levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23200864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608047[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398123020 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123020;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=rs398123020" 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=rs398123020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a girl with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>) who was born to unaffected first-cousin parents of Israeli Arab origin, <a href="#1" class="mim-tip-reference" title="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> identified a homozygous variant (c.1741+2T-C) affecting the consensus splice donor site of exon 16 in the UBE3B gene. The mutation led to skipping of exon 16 and, to a lesser extent, skipping of exons 16 and 17 in RNA derived from blood of the patient. The parents were heterozygous carriers of the mutation, which was not found in 100 ethnically matched controls or in the NHLBI Exome Sequencing Project database. The mutation introduces a premature termination codon and is thus expected to result in nonsense-mediated mRNA decay and/or protein truncation. The authors called the disorder blepharophimosis-ptosis-intellectual disability syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23200864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In an Italian sister and brother with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>), originally reported by <a href="#4" class="mim-tip-reference" title="Dentici, M. L., Mingarelli, R., Dallapiccola, B. <strong>The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.</strong> Am. J. Med. Genet. 155A: 459-465, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21567902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21567902</a>] [<a href="https://doi.org/10.1002/ajmg.a.33642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21567902">Dentici et al. (2011)</a>, <a href="#1" class="mim-tip-reference" title="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> identified compound heterozygous mutations in the UBE3B gene: a maternally inherited 2-bp deletion (c.2223_2224delAG; Arg741SerfsTer3) and a paternally inherited splice acceptor mutation (c.545-2A-G; <a href="#0003">608047.0003</a>). The splice site mutation caused skipping of exon 8 and skipping of exons 8 and 9 in RNA derived from the sister's blood. Both variants introduce premature termination codons and are thus expected to result in nonsense-mediated mRNA decay and/or protein truncation. The mutations were not found in 100 ethnically matched controls or in the NHLBI Exome Sequencing Project database. The authors called the disorder blepharophimosis-ptosis-intellectual disability syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21567902+23200864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For discussion of the splice site mutation in the UBE3B gene (c.545-2A-G) that was found in compound heterozygous state in patients with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>) by <a href="#1" class="mim-tip-reference" title="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a>, see <a href="#0002">608047.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23200864" 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">rs398123023 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123023;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=rs398123023" 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=rs398123023" 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=RCV000043490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043490</a>
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<p>By sequencing the coding exons of the UBE3B gene in a girl with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>) who was born to unaffected first-cousin parents of Tunisian origin, <a href="#1" class="mim-tip-reference" title="Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others. <strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong> Am. J. Hum. Genet. 91: 998-1010, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23200864">Basel-Vanagaite et al. (2012)</a> identified a homozygous c.2180A-C mutation that was predicted to lead to a glu727-to-pro (Q727P) substitution at a highly conserved residue in the HECT domain. Both parents were heterozygous carriers of the mutation, which was not found in 100 ethnically matched controls or in the NHLBI Exome Sequencing Project database. The mutation was located within a 35-Mb region of homozygosity in the proband, as shown by genomewide SNP array genotyping, consistent with a large region of homozygosity-by-descent. The authors called the disorder blepharophimosis-ptosis-intellectual disability syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23200864" 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 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
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UBE3B, LEU482HIS AND LEU539PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1879212341 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1879212341;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=rs1879212341" 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=rs1879212341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1879869290 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1879869290;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=rs1879869290" 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=rs1879869290" 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=RCV001264815 OR RCV001264816 OR RCV002254000" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001264815, RCV001264816, RCV002254000" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001264815...</a>
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<p>In a 7-year-old Turkish boy (patient 2), the child of unaffected first cousins, with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>), <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G. <strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong> Hum. Genet. 133: 939-949, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>] [<a href="https://doi.org/10.1007/s00439-014-1436-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24615390">Basel-Vanagaite et al. (2014)</a> identified homozygosity for 2 missense mutations in cis in the UBE3B gene, a c.1445T-A transversion (c.1445T-A, GRCh37) resulting in a leu482-to-his (L482H) substitution, and a c.1616T-C transition (c.1616T-C, GRCh37) resulting in a leu539-to-pro (L539P) substitution. Each parent was heterozygous for both mutations. Both mutations occurred outside the HECT domain, L482H in the leucine-rich region and L539P in a predicted coiled-coil domain. The mutations were identified by whole-exome sequencing and were absent from the Exome Variant Server and 376 Turkish control alleles. The patient had mild and atypical facial dysmorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24615390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
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UBE3B, GLY779ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2136067033 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136067033;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=rs2136067033" 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=rs2136067033" 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=RCV002254001" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002254001" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002254001</a>
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<p>In a brother and sister (patients 4 and 5) of Mexican origin with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>), <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G. <strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong> Hum. Genet. 133: 939-949, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>] [<a href="https://doi.org/10.1007/s00439-014-1436-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24615390">Basel-Vanagaite et al. (2014)</a> identified a homozygous c.2335G-A transition (c.2335G-A, GRCh37) in the UBE3B gene that resulted in a gly779-to-arg (G779R) substitution at a conserved residue in the HECT domain of the protein. The mutation was identified by exon sequencing of the UBE3B gene and was not present in the Exome Variant Server. The patients had been reported by <a href="#6" class="mim-tip-reference" title="Toriello, H. V., Carey, J. C., Addor, M.-C., Allen, W., Burke, L., Chun, N., Dobyns, W., Elias, E., Gallagher, R., Hordijk, R., Hoyme, G., Irons, M., and 13 others. <strong>Toriello-Carey syndrome: delineation and review.</strong> Am. J. Med. Genet. 123A: 84-90, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14556252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14556252</a>] [<a href="https://doi.org/10.1002/ajmg.a.20493" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14556252">Toriello et al. (2003)</a> with a diagnosis of Toriello-Carey syndrome (<a href="/entry/217980">217980</a>). The presence of suggestive facial features led <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G. <strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong> Hum. Genet. 133: 939-949, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>] [<a href="https://doi.org/10.1007/s00439-014-1436-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24615390">Basel-Vanagaite et al. (2014)</a> to sequence the UBE3B gene in these patients; sequencing of 4 additional Toriello-Carey syndrome patients who did not have a facial appearance characteristic of KOS detected no UBE3B mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14556252+24615390" 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 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2136063413 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2136063413;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=rs2136063413" 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=rs2136063413" 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=RCV002254002" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002254002" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002254002</a>
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<p>In a 25-year-old German man (patient 6) with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>), <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G. <strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong> Hum. Genet. 133: 939-949, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>] [<a href="https://doi.org/10.1007/s00439-014-1436-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24615390">Basel-Vanagaite et al. (2014)</a> detected compound heterozygosity for mutations in the UBE3B gene: a c.2098C-T transition (c.2098C-T, GRCh37) resulting in a gln700-to-ter (Q700X) substitution, and a c.2990G-C transversion resulting in an arg997-to-pro (R997P) substitution. The Q700X mutation, inherited from the mother, truncated the protein N-terminal to the HECT domain. The R997P mutation, present in the unaffected brother and likely inherited from the deceased father, occurred in the HECT domain. The mutations were detected by exome sequencing and were absent from the Exome Variant Server. The patient had been reported as an infant by <a href="#3" class="mim-tip-reference" title="Buntinx, I., Majewski, F. <strong>Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.</strong> Am. J. Med. Genet. 36: 273-274, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694631</a>] [<a href="https://doi.org/10.1002/ajmg.1320360304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1694631">Buntinx and Majewski (1990)</a> as having a possibly novel phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1694631+24615390" 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>.0008 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
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UBE3B, ARG997PRO
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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> rs539407162 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs539407162;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/rs539407162?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=rs539407162" 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=rs539407162" 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=RCV000190746 OR RCV000578255" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190746, RCV000578255" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190746...</a>
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<span class="mim-text-font">
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<p>For discussion of the c.2990G-C transversion (c.2990G-C, GRCh37) in the UBE3B gene, resulting in an arg997-to-pro (R997P) substitution, that was found in compound heterozygous state in a patient with Kaufman oculocerebrofacial syndrome (KOS; <a href="/entry/244450">244450</a>) by <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G. <strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong> Hum. Genet. 133: 939-949, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>] [<a href="https://doi.org/10.1007/s00439-014-1436-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24615390">Basel-Vanagaite et al. (2014)</a>, see <a href="#0007">608047.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24615390" 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 class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Basel-Vanagaite2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others.
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<strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong>
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Am. J. Hum. Genet. 91: 998-1010, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23200864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23200864</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23200864[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=23200864" 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/10.1016/j.ajhg.2012.10.011" target="_blank">Full Text</a>]
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<a id="Basel-Vanagaite2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G.
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<strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong>
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Hum. Genet. 133: 939-949, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24615390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24615390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24615390" 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/10.1007/s00439-014-1436-2" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Buntinx1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Buntinx, I., Majewski, F.
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<strong>Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.</strong>
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Am. J. Med. Genet. 36: 273-274, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1694631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1694631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1694631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320360304" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Dentici2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dentici, M. L., Mingarelli, R., Dallapiccola, B.
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<strong>The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.</strong>
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Am. J. Med. Genet. 155A: 459-465, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21567902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21567902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21567902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33642" target="_blank">Full Text</a>]
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<a id="Gong2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I.
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<strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong>
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Genomics 82: 143-152, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12837265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12837265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12837265" 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/10.1016/s0888-7543(03)00111-3" target="_blank">Full Text</a>]
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<a id="Toriello2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Toriello, H. V., Carey, J. C., Addor, M.-C., Allen, W., Burke, L., Chun, N., Dobyns, W., Elias, E., Gallagher, R., Hordijk, R., Hoyme, G., Irons, M., and 13 others.
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<strong>Toriello-Carey syndrome: delineation and review.</strong>
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Am. J. Med. Genet. 123A: 84-90, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14556252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14556252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14556252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20493" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 06/03/2022
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Nara Sobreira - updated : 5/3/2013
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/18/2003
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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alopez : 06/03/2022
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<span class="mim-text-font">
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carol : 10/20/2016<br>carol : 04/09/2015<br>carol : 4/8/2015<br>mcolton : 2/10/2015<br>carol : 5/3/2013<br>alopez : 5/6/2008<br>mgross : 8/18/2003
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<span class="mim-font">
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<strong>*</strong> 608047
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<div>
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<h3>
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<span class="mim-font">
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UBIQUITIN-PROTEIN LIGASE E3B; UBE3B
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<div>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: UBE3B</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 722056009;
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<strong>
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<em>
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Cytogenetic location: 12q24.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:109,477,634-109,547,829 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12q24.11
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</td>
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<td>
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<span class="mim-font">
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Kaufman oculocerebrofacial syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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244450
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tbody>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ubiquitination requires the sequential action of 3 enzymes: an activating enzyme (E1), a conjugating enzyme (E2), and a ligase (E3). UBE3B belongs to a class of monomeric ubiquitin ligases that contain a 350-amino acid HECT domain within their active site (Gong et al., 2003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using mouse Ube3b as probe, Gong et al. (2003) cloned UBE3B from a human cDNA library. The deduced 1,068-amino acid protein has a calculated molecular mass of about 123 kD, and the UBE3B transcript contains a 1.9-kb 3-prime untranslated region. Both mouse and human UBE3B contain an N-terminal IQ domain and a C-terminal HECT domain. Gong et al. (2003) determined that the transcript encoding the 1,068-amino acid protein lacks exon 20. A splice variant that includes exon 20 introduces a stop codon and encodes a deduced 708-amino acid protein with a calculated molecular mass of about 82 kD. This variant lacks the HECT domain. Gong et al. (2003) also detected splice variants that introduce changes to the 5-prime end of UBE3B. Mouse and human UBE3B share 92% amino acid identity overall and 99% identity in the HECT domain. Homologous sequences were identified in chick (97% amino acid identity) and in lower organisms, including plant. Northern blot analysis detected a transcript of about 5 kb in all mouse tissues examined. Highest levels were detected in brain, heart, and skeletal muscle, and these tissues also showed faint bands of 7.5 and 8.8 kb. RT-PCR detected a transcript lacking exon 20 in all human tissues examined, and a transcript containing exon 20 was detected in most tissues. RT-PCR of mouse and chick tissues detected only transcripts corresponding to the human transcript lacking exon 20. </p><p>By in situ hybridization in embryonic and postnatal mouse tissues, Basel-Vanagaite et al. (2012) found predominant expression of Ube3b in distinct anatomical structures of the developing central nervous system and in craniofacial structures. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gong et al. (2003) determined that the mouse and human UBE3B genes contain 29 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Gong et al. (2003) mapped the UBE3B gene to chromosome 12q21.1-q23. They mapped the mouse Ube3b gene to a region of chromosome 5 that shows homology of synteny to human chromosome 12q21.1-q23. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Basel-Vanagaite et al. (2012) demonstrated that the probable C. elegans ortholog of UBE3B, oxi-1, functions in the ubiquitin/proteasome system in vivo and may be required under oxidative stress conditions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Basel-Vanagaite et al. (2012) performed exome sequencing of 2 unrelated individuals with Kaufman oculocerebrofacial syndrome (KOS; 244450), which the authors called blepharophimosis-ptosis intellectual disability syndrome (BPIDS), and identified the UBE3B gene as the only gene with rare or unique biallelic damaging variants in both individuals. Individual 1 had a homozygous splice site mutation (c.1741+2T-C; 608047.0001), which was present in heterozygous state in her unaffected first-cousin parents. Individual 2 and her affected brother, who were previously reported by Dentici et al. (2011), had a maternally inherited deletion (c.2223_2224delAG; 608047.0002) and a paternally inherited splice site mutation (c.545-2AG; 608047.0003). By sequencing the coding exons of the UBE3B gene in a fourth affected individual, Basel-Vanagaite et al. (2012) detected another homozygous mutation (E727P; 608047.0004), which was present in heterozygous state in the patient's unaffected first-cousin parents. None of the mutations were present in 100 ethnically matched control individuals or in the NHLBI Exome Sequencing Project database. </p><p>Basel-Vanagaite et al. (2014) reported 6 patients from 5 unrelated families with KOS and homozygous or compound heterozygous mutation in the UBE3B gene. They identified homozygous missense mutations in cis outside the HECT domain (608047.0005) in a patient with mildly dysmorphic facial features, a homozygous missense mutation (G779R; 608047.0006) in sibs previously diagnosed with Toriello-Carey syndrome (217980), and compound heterozygosity (608047.0007; 608047.0008) in a patient previously reported as having a possibly novel disorder. Basel-Vanagaite et al. (2014) stated that their findings brought the number of reported KOS patients to 12 and expanded the clinical and mutational spectrum of the disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Basel-Vanagaite et al. (2012) confirmed by quantitative PCR that Ube3b knockdown mice do not express detectable levels of Ube3b mRNA. Ube3b -/- mice had severely reduced body weight, small body size, and reduced brain section area with reduced size of the hippocampus and dentate gyrus, reduced grip strength, reduced low-density lipoprotein levels and a trend toward reduced total and HDL cholesterol levels, mild hearing impairment, and acute inflammation, calcification, and dilated lymphovascular channels of the cornea. Basel-Vanagaite et al. (2012) suggested that Ube3b -/- mice are a model of the UBE3B-deficient Kaufman oculocerebrofacial syndrome in anomalies of body and brain size, weight, muscular strength, and cholesterol levels. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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UBE3B, IVS15DS, T-C, +2
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<br />
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SNP: rs398123020,
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|
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ClinVar: RCV000043487
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a girl with Kaufman oculocerebrofacial syndrome (KOS; 244450) who was born to unaffected first-cousin parents of Israeli Arab origin, Basel-Vanagaite et al. (2012) identified a homozygous variant (c.1741+2T-C) affecting the consensus splice donor site of exon 16 in the UBE3B gene. The mutation led to skipping of exon 16 and, to a lesser extent, skipping of exons 16 and 17 in RNA derived from blood of the patient. The parents were heterozygous carriers of the mutation, which was not found in 100 ethnically matched controls or in the NHLBI Exome Sequencing Project database. The mutation introduces a premature termination codon and is thus expected to result in nonsense-mediated mRNA decay and/or protein truncation. The authors called the disorder blepharophimosis-ptosis-intellectual disability syndrome. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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UBE3B, 2-BP DEL, 2223AG
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<br />
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|
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SNP: rs398123021,
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|
|
ClinVar: RCV000043488
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian sister and brother with Kaufman oculocerebrofacial syndrome (KOS; 244450), originally reported by Dentici et al. (2011), Basel-Vanagaite et al. (2012) identified compound heterozygous mutations in the UBE3B gene: a maternally inherited 2-bp deletion (c.2223_2224delAG; Arg741SerfsTer3) and a paternally inherited splice acceptor mutation (c.545-2A-G; 608047.0003). The splice site mutation caused skipping of exon 8 and skipping of exons 8 and 9 in RNA derived from the sister's blood. Both variants introduce premature termination codons and are thus expected to result in nonsense-mediated mRNA decay and/or protein truncation. The mutations were not found in 100 ethnically matched controls or in the NHLBI Exome Sequencing Project database. The authors called the disorder blepharophimosis-ptosis-intellectual disability syndrome. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
UBE3B, IVS7AS, A-G, -2
|
|
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|
|
|
<br />
|
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|
|
SNP: rs398123022,
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|
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|
|
|
|
|
ClinVar: RCV000043489
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the UBE3B gene (c.545-2A-G) that was found in compound heterozygous state in patients with Kaufman oculocerebrofacial syndrome (KOS; 244450) by Basel-Vanagaite et al. (2012), see 608047.0002. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
UBE3B, GLN727PRO
|
|
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|
|
<br />
|
|
|
|
SNP: rs398123023,
|
|
|
|
|
|
|
|
ClinVar: RCV000043490
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>By sequencing the coding exons of the UBE3B gene in a girl with Kaufman oculocerebrofacial syndrome (KOS; 244450) who was born to unaffected first-cousin parents of Tunisian origin, Basel-Vanagaite et al. (2012) identified a homozygous c.2180A-C mutation that was predicted to lead to a glu727-to-pro (Q727P) substitution at a highly conserved residue in the HECT domain. Both parents were heterozygous carriers of the mutation, which was not found in 100 ethnically matched controls or in the NHLBI Exome Sequencing Project database. The mutation was located within a 35-Mb region of homozygosity in the proband, as shown by genomewide SNP array genotyping, consistent with a large region of homozygosity-by-descent. The authors called the disorder blepharophimosis-ptosis-intellectual disability syndrome. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
UBE3B, LEU482HIS AND LEU539PRO
|
|
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|
|
<br />
|
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|
|
SNP: rs1879212341, rs1879869290,
|
|
|
|
|
|
|
|
ClinVar: RCV001264815, RCV001264816, RCV002254000
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old Turkish boy (patient 2), the child of unaffected first cousins, with Kaufman oculocerebrofacial syndrome (KOS; 244450), Basel-Vanagaite et al. (2014) identified homozygosity for 2 missense mutations in cis in the UBE3B gene, a c.1445T-A transversion (c.1445T-A, GRCh37) resulting in a leu482-to-his (L482H) substitution, and a c.1616T-C transition (c.1616T-C, GRCh37) resulting in a leu539-to-pro (L539P) substitution. Each parent was heterozygous for both mutations. Both mutations occurred outside the HECT domain, L482H in the leucine-rich region and L539P in a predicted coiled-coil domain. The mutations were identified by whole-exome sequencing and were absent from the Exome Variant Server and 376 Turkish control alleles. The patient had mild and atypical facial dysmorphism. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
UBE3B, GLY779ARG
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|
|
<br />
|
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|
|
SNP: rs2136067033,
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|
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|
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|
|
ClinVar: RCV002254001
|
|
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|
|
|
</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a brother and sister (patients 4 and 5) of Mexican origin with Kaufman oculocerebrofacial syndrome (KOS; 244450), Basel-Vanagaite et al. (2014) identified a homozygous c.2335G-A transition (c.2335G-A, GRCh37) in the UBE3B gene that resulted in a gly779-to-arg (G779R) substitution at a conserved residue in the HECT domain of the protein. The mutation was identified by exon sequencing of the UBE3B gene and was not present in the Exome Variant Server. The patients had been reported by Toriello et al. (2003) with a diagnosis of Toriello-Carey syndrome (217980). The presence of suggestive facial features led Basel-Vanagaite et al. (2014) to sequence the UBE3B gene in these patients; sequencing of 4 additional Toriello-Carey syndrome patients who did not have a facial appearance characteristic of KOS detected no UBE3B mutations. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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UBE3B, GLN700TER
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<br />
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SNP: rs2136063413,
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ClinVar: RCV002254002
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 25-year-old German man (patient 6) with Kaufman oculocerebrofacial syndrome (KOS; 244450), Basel-Vanagaite et al. (2014) detected compound heterozygosity for mutations in the UBE3B gene: a c.2098C-T transition (c.2098C-T, GRCh37) resulting in a gln700-to-ter (Q700X) substitution, and a c.2990G-C transversion resulting in an arg997-to-pro (R997P) substitution. The Q700X mutation, inherited from the mother, truncated the protein N-terminal to the HECT domain. The R997P mutation, present in the unaffected brother and likely inherited from the deceased father, occurred in the HECT domain. The mutations were detected by exome sequencing and were absent from the Exome Variant Server. The patient had been reported as an infant by Buntinx and Majewski (1990) as having a possibly novel phenotype. </p>
|
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</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0008 KAUFMAN OCULOCEREBROFACIAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
UBE3B, ARG997PRO
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<br />
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|
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SNP: rs539407162,
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gnomAD: rs539407162,
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ClinVar: RCV000190746, RCV000578255
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the c.2990G-C transversion (c.2990G-C, GRCh37) in the UBE3B gene, resulting in an arg997-to-pro (R997P) substitution, that was found in compound heterozygous state in a patient with Kaufman oculocerebrofacial syndrome (KOS; 244450) by Basel-Vanagaite et al. (2014), see 608047.0007. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., thiele, H., Edwards, A., Arends, M. J., Miro, X., White, J. K., Desir, J., Abramowicz, M., Dentici, M. L., and 24 others.
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<strong>Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.</strong>
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Am. J. Hum. Genet. 91: 998-1010, 2012.
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[PubMed: 23200864]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.10.011]
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Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K., Mortenson, M., Koty, P., Feenstra, H., Farwell Gonzalez, K. D., Sticht, H., Boddaert, N., Desir, J., Anyane-Yeboa, K., Zweier, C., Reis, A., Kubisch, C., Jewett, T., Zeng, W., Borck, G.
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<strong>Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.</strong>
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Hum. Genet. 133: 939-949, 2014.
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[PubMed: 24615390]
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[Full Text: https://doi.org/10.1007/s00439-014-1436-2]
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<li>
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<p class="mim-text-font">
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Buntinx, I., Majewski, F.
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<strong>Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.</strong>
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Am. J. Med. Genet. 36: 273-274, 1990.
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[PubMed: 1694631]
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[Full Text: https://doi.org/10.1002/ajmg.1320360304]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dentici, M. L., Mingarelli, R., Dallapiccola, B.
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<strong>The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.</strong>
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Am. J. Med. Genet. 155A: 459-465, 2011.
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[PubMed: 21567902]
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[Full Text: https://doi.org/10.1002/ajmg.a.33642]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gong, T.-W. L., Huang, L., Warner, S. J., Lomax, M. I.
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<strong>Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.</strong>
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Genomics 82: 143-152, 2003.
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[PubMed: 12837265]
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[Full Text: https://doi.org/10.1016/s0888-7543(03)00111-3]
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</p>
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</li>
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<p class="mim-text-font">
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Toriello, H. V., Carey, J. C., Addor, M.-C., Allen, W., Burke, L., Chun, N., Dobyns, W., Elias, E., Gallagher, R., Hordijk, R., Hoyme, G., Irons, M., and 13 others.
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<strong>Toriello-Carey syndrome: delineation and review.</strong>
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Am. J. Med. Genet. 123A: 84-90, 2003.
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[PubMed: 14556252]
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[Full Text: https://doi.org/10.1002/ajmg.a.20493]
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 06/03/2022<br>Nara Sobreira - updated : 5/3/2013
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Patricia A. Hartz : 8/18/2003
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