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Entry
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- *615929 - ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17; ANKRD17
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- OMIM
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<p>
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<span class="h4">*615929</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/615929">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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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 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=ENSG00000132466;t=ENST00000358602" 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=26057" 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=615929" 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 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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<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=ENSG00000132466;t=ENST00000358602" 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_001286771,NM_015574,NM_032217,NM_198889,XM_005265671,XM_005265672,XM_005265673,XM_017008011,XM_017008012,XM_017008013,XM_017008014,XM_017008015,XM_017008016,XM_017008017,XM_047450038,XM_047450039,XM_047450040,XM_047450041,XM_047450042,XM_047450043,XM_047450044,XM_047450045,XM_047450046,XM_047450047,XM_047450048" 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_032217" 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=615929" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/ANKRD17" 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/10438501,12060822,20521133,27694396,33869762,34783304,38683807,38683816,39645226,50949428,119626059,119626060,119626061,119626062,119626063,160019013,193788418,194386620,194390592,530376943,530376945,530376947,557948112,960139520,1034639307,1034639309,1034639311,1034639314,1034639316,1034639318,1034639320,2217350075,2217350078,2217350080,2217350082,2217350088,2217350092,2217350095,2217350097,2217350099,2217350102,2217350105,2462596374,2462596376,2462596378,2462596380,2462596382,2462596384,2462596386,2462596388,2462596390,2462596392,2462596394,2462596397,2462596399,2462596401,2462596403,2462596405,2462596407,2462596409,2462596411,2462596413,2462596415" 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/O75179" 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=26057" 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=ENSG00000132466;t=ENST00000358602" 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=ANKRD17" 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=ANKRD17" 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+26057" 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/ANKRD17" 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:26057" 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/26057" 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=chr4&hgg_gene=ENST00000358602.9&hgg_start=73073376&hgg_end=73258798&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:23575" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=615929[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=615929[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/ANKRD17/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/ENSG00000132466" 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=ANKRD17" 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=ANKRD17" 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=ANKRD17" 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=ANKRD17&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/PA134943225" 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:23575" 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/FBgn0043884.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:1932101" 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/ANKRD17#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:1932101" 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/26057/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=26057" 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=WBGene00011240;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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ANKRD17&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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615929
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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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ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17; ANKRD17
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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GTAR
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ANKRD17" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ANKRD17</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/4/301?start=-3&limit=10&highlight=301">4q13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:73073376-73258798&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'})">4:73,073,376-73,258,798</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</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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<a href="/geneMap/4/301?start=-3&limit=10&highlight=301">
|
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4q13.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Chopra-Amiel-Gordon syndrome
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/619504"> 619504 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/615929" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/615929" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p>ANKRD17 is a downstream effector of cyclin E (CCNE1; <a href="/entry/123837">123837</a>)/CDK2 (<a href="/entry/116953">116953</a>) and positively regulates cell cycle progression (<a href="#2" class="mim-tip-reference" title="Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., Ye, X. <strong>Identification and functional analysis of a novel cyclin E/Cdk2 substrate Ankrd17.</strong> J. Biol. Chem. 284: 7875-7888, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150984</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150984[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/10.1074/jbc.M807827200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19150984">Deng et al., 2009</a>). ANKRD17 also interacts with molecules that mediate immune responses to bacteria and viruses (<a href="#4" class="mim-tip-reference" title="Wang, Y., Tong, X., Li, G., Li, J., Deng, M., Ye, X. <strong>Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling.</strong> Europ. J. Immun. 42: 1304-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22328336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22328336</a>] [<a href="https://doi.org/10.1002/eji.201142125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22328336">Wang et al., 2012</a>; <a href="#3" class="mim-tip-reference" title="Menning, M., Kufer, T. A. <strong>A role for the ankyrin repeat containing protein Ankrd17 in Nod1- and Nod2-mediated inflammatory responses.</strong> FEBS Lett. 587: 2137-2142, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23711367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23711367</a>] [<a href="https://doi.org/10.1016/j.febslet.2013.05.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23711367">Menning and Kufer, 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22328336+23711367+19150984" 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 TAP tag purification, <a href="#2" class="mim-tip-reference" title="Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., Ye, X. <strong>Identification and functional analysis of a novel cyclin E/Cdk2 substrate Ankrd17.</strong> J. Biol. Chem. 284: 7875-7888, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150984</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150984[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/10.1074/jbc.M807827200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19150984">Deng et al. (2009)</a> identified ANKRD17 as a substrate of CCNE1/CDK2. The predicted 2,352-amino acid ANKRD17 protein contains clusters of 15 and 10 ankyrin repeats in its N-terminal half, followed by a nuclear export signal, a nuclear localization signal, a KH domain, and an RxL motif. RT-PCR analysis detected ubiquitous expression in human tissues. Immunoblot analysis showed nuclear expression and chromatin binding in human cells. Mass spectrometric analysis identified serine phosphorylation sites at positions 1791, 1794, and 2150. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19150984" 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 an in vitro kinase assay, <a href="#2" class="mim-tip-reference" title="Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., Ye, X. <strong>Identification and functional analysis of a novel cyclin E/Cdk2 substrate Ankrd17.</strong> J. Biol. Chem. 284: 7875-7888, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150984</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150984[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/10.1074/jbc.M807827200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19150984">Deng et al. (2009)</a> showed that phosphorylation of ANKRD17 was mediated by CCNE1/CDK2. Overexpression of ANKRD17 promoted cell cycle progression in human U2OS cells. Treatment with short interfering RNA (siRNA) blocked U2OS cells from entering S phase and prevented loading of CDC6 (<a href="/entry/602627">602627</a>) and PCNA (<a href="/entry/176740">176740</a>) onto chromatin. Immunoprecipitation analysis of transfected 293T cells revealed that ANKRD17 also interacted with proteins involved in DNA replication, including MCM3 (<a href="/entry/602693">602693</a>), MCM5 (<a href="/entry/602696">602696</a>), MCM7 (<a href="/entry/600592">600592</a>), CDC6, and PCNA. <a href="#2" class="mim-tip-reference" title="Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., Ye, X. <strong>Identification and functional analysis of a novel cyclin E/Cdk2 substrate Ankrd17.</strong> J. Biol. Chem. 284: 7875-7888, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150984</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150984[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/10.1074/jbc.M807827200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19150984">Deng et al. (2009)</a> concluded that ANKRD17 is an important downstream effector of CCNE1/CDK2 that positively regulates G1/S transition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19150984" 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>RIGI (DDX58; <a href="/entry/609631">609631</a>)-like receptors (RLRs) are intracellular molecules that sense viral RNAs and trigger immune responses. <a href="#4" class="mim-tip-reference" title="Wang, Y., Tong, X., Li, G., Li, J., Deng, M., Ye, X. <strong>Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling.</strong> Europ. J. Immun. 42: 1304-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22328336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22328336</a>] [<a href="https://doi.org/10.1002/eji.201142125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22328336">Wang et al. (2012)</a> found that ANKRD17 interacted with the RLRs RIGI, MDA5 (<a href="/entry/606951">606951</a>), and VISA (MAVS; <a href="/entry/609676">609676</a>). Overexpression of ANKRD17 enhanced signaling of these molecules and activation of IRF3 (<a href="/entry/603734">603734</a>) and NFKB (<a href="/entry/164011">164011</a>) and transcription of IFNB (<a href="/entry/147640">147640</a>) in transfected 293T cells. Knockdown of ANKRD17 impaired RLR signaling. <a href="#4" class="mim-tip-reference" title="Wang, Y., Tong, X., Li, G., Li, J., Deng, M., Ye, X. <strong>Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling.</strong> Europ. J. Immun. 42: 1304-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22328336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22328336</a>] [<a href="https://doi.org/10.1002/eji.201142125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22328336">Wang et al. (2012)</a> concluded that ANKRD17 is a positive regulator of the RLR signaling pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22328336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Menning, M., Kufer, T. A. <strong>A role for the ankyrin repeat containing protein Ankrd17 in Nod1- and Nod2-mediated inflammatory responses.</strong> FEBS Lett. 587: 2137-2142, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23711367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23711367</a>] [<a href="https://doi.org/10.1016/j.febslet.2013.05.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23711367">Menning and Kufer (2013)</a> showed that the ANKRD17 N-terminal domain bound NOD2 (<a href="/entry/605956">605956</a>) in human cells. Knockdown and overexpression analyses revealed that ANKRD17 was functionally involved in NOD2- and NOD1 (<a href="/entry/605980">605980</a>)-mediated responses to bacteria in different human cell lines. <a href="#3" class="mim-tip-reference" title="Menning, M., Kufer, T. A. <strong>A role for the ankyrin repeat containing protein Ankrd17 in Nod1- and Nod2-mediated inflammatory responses.</strong> FEBS Lett. 587: 2137-2142, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23711367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23711367</a>] [<a href="https://doi.org/10.1016/j.febslet.2013.05.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23711367">Menning and Kufer (2013)</a> concluded that ANKRD17 functions in innate antibacterial immune pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23711367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., Ye, X. <strong>Identification and functional analysis of a novel cyclin E/Cdk2 substrate Ankrd17.</strong> J. Biol. Chem. 284: 7875-7888, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150984</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150984[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/10.1074/jbc.M807827200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19150984">Deng et al. (2009)</a> stated that the ANKRD17 gene maps to chromosome 4q13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19150984" 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 a patient (individual 6) with Chopra-Amiel-Gordon syndrome (CAGS; <a href="/entry/619504">619504</a>), <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> identified a de novo heterozygous 1.16-Mb deletion encompassing 7 genes, including ANKRD17, by array CGH. The other 6 genes in the region were associated with an autosomal recessive pattern of disease inheritance when mutated (ADAMTS3, <a href="/entry/605011">605011</a>; ALB, <a href="/entry/103600">103600</a>; AFP, <a href="/entry/104150">104150</a>) or were not known to be associated with a disease (COX18, <a href="/entry/610428">610428</a>; AFM, <a href="/entry/104150">104150</a>; RASSF6, <a href="/entry/612620">612620</a>). <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> therefore considered ANKRD17 to be the most likely candidate gene underlying the patient's phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" 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 34 patients from 32 families with Chopra-Amiel-Gordon syndrome, <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> identified heterozygous mutations in the ANKRD17 gene (see, e.g., <a href="#0001">615929.0001</a>-<a href="#0005">615929.0005</a>). The mutations included 21 truncating or canonical splice site mutations, 9 missense mutations, 1 in-frame indel, and 1 heterozygous microdeletion including additional genes. The mutations were shown to be de novo in 29 patients, inherited from an affected parent in 1 patient (<a href="#0004">615929.0004</a>), and inherited from a parent with low-level mosaicism for an ANKRD17 mutation in 1 patient. Parental inheritance was not determined in 3 patients. One pair of monozygotic twins, who were heterozygous for a missense mutation (A377T), had a discordant phenotype. Molecular modeling suggested that most of the missense mutations disrupted the stability of ankyrin repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" 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="/allelicVariants/615929" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=615929[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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<strong>.0001 CHOPRA-AMIEL-GORDON 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">rs2148823868 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148823868;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=rs2148823868" 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=rs2148823868" 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=RCV001591777" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001591777" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001591777</a>
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<p>In an Algerian woman (individual 1) with Chopra-Amiel-Gordon syndrome (CAGS; <a href="/entry/619504">619504</a>), <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> identified a de novo heterozygous c.1958-2A-C transition (c.1958-2A-C, NM_032217.4) in intron 11 of the ANKRD17 gene, predicted to result in a splicing abnormality. The mutation was identified by trio whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the gnomAD database. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" 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>.0002 CHOPRA-AMIEL-GORDON SYNDROME</strong>
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ANKRD17, GLY1364ALA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148684587 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148684587;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=rs2148684587" 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=rs2148684587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001591778" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001591778" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001591778</a>
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</span>
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<p>In a 4-year-old Indian boy (individual 2) with Chopra-Amiel-Gordon syndrome (CAGS; <a href="/entry/619504">619504</a>), <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> identified a de novo heterozygous c.4091G-C transversion (c.4091G-C, NM_032217.4) in exon 22 of the ANKRD17 gene, resulting in a gly1364-to-ala (G1364A) substitution at a conserved residue in the ankyrin repeats. The mutation was identified by trio whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the gnomAD database. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" 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 id="0003" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0003 CHOPRA-AMIEL-GORDON SYNDROME</strong>
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</h4>
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ANKRD17, 4-BP DEL, NT4341
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2148661856 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2148661856;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=rs2148661856" 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=rs2148661856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001591779" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001591779" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001591779</a>
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</span>
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<span class="mim-text-font">
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<p>In a 5-year-old girl (individual 3) with Chopra-Amiel-Gordon syndrome (CAGS; <a href="/entry/619504">619504</a>), <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> identified a de novo heterozygous 4-bp deletion (c.4341_4344del, NM_032217.4) in exon 24 of the ANKRD17 gene, predicted to result in a frameshift and premature termination (Gln1448LeufsTer12). The mutation was identified by trio whole-exome sequencing and was not present in the gnomAD database. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" 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 id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 CHOPRA-AMIEL-GORDON SYNDROME</strong>
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</span>
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</h4>
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ANKRD17, GLU875TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1578168407 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1578168407;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=rs1578168407" 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=rs1578168407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000851304 OR RCV001593058" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000851304, RCV001593058" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000851304...</a>
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<p>In a mother and son (individuals 11 and 12) with Chopra-Amiel-Gordon syndrome (CAGS; <a href="/entry/619504">619504</a>), <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> identified heterozygosity for a c.2623G-T transversion (2623G-T, NM_032217.4) in exon 15 of the ANKRD17, resulting in a glu875-to-ter (E875X) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" 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 id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 CHOPRA-AMIEL-GORDON SYNDROME</strong>
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ANKRD17, 1-BP DUP, NT5756
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1722830922 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1722830922;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=rs1722830922" 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=rs1722830922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001007894 OR RCV001593180" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001007894, RCV001593180" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001007894...</a>
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<span class="mim-text-font">
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<p>In a patient (individual 14) with Chopra-Amiel-Gordon Syndrome (CAGS; <a href="/entry/619504">619504</a>), <a href="#1" class="mim-tip-reference" title="Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others. <strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong> Am. J. Hum. Genet. 108: 1138-1150, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>] [<a href="https://doi.org/10.1016/j.ajhg.2021.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33909992">Chopra et al. (2021)</a> identified a de novo heterozygous 1-bp duplication (c.5756dup, NM_032217.4) in exon 29 of the ANKRD17 gene, predicted to result in a frameshift and premature termination (Ala1920SerfsTer). The mutation was identified by trio whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the gnomAD database. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Chopra2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others.
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<strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong>
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Am. J. Hum. Genet. 108: 1138-1150, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33909992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33909992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33909992" 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.2021.04.007" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Deng2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., Ye, X.
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<strong>Identification and functional analysis of a novel cyclin E/Cdk2 substrate Ankrd17.</strong>
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J. Biol. Chem. 284: 7875-7888, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19150984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19150984</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19150984[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=19150984" 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/10.1074/jbc.M807827200" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Menning2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Menning, M., Kufer, T. A.
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<strong>A role for the ankyrin repeat containing protein Ankrd17 in Nod1- and Nod2-mediated inflammatory responses.</strong>
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FEBS Lett. 587: 2137-2142, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23711367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23711367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23711367" 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.febslet.2013.05.037" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Wang2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, Y., Tong, X., Li, G., Li, J., Deng, M., Ye, X.
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<strong>Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling.</strong>
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Europ. J. Immun. 42: 1304-1315, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22328336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22328336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22328336" 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/eji.201142125" target="_blank">Full Text</a>]
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Contributors:
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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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Hilary J. Vernon - updated : 08/30/2021
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Creation Date:
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<span class="mim-text-font">
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Paul J. Converse : 8/8/2014
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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joanna : 09/13/2021
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<span class="mim-text-font">
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carol : 09/01/2021<br>carol : 08/31/2021<br>carol : 08/30/2021<br>mgross : 08/26/2014<br>mgross : 8/26/2014<br>mcolton : 8/8/2014
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<strong>*</strong> 615929
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ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17; ANKRD17
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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GTAR
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ANKRD17</em></strong>
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Cytogenetic location: 4q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:73,073,376-73,258,798 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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4q13.3
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<td>
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<span class="mim-font">
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Chopra-Amiel-Gordon syndrome
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</td>
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<span class="mim-font">
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619504
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>ANKRD17 is a downstream effector of cyclin E (CCNE1; 123837)/CDK2 (116953) and positively regulates cell cycle progression (Deng et al., 2009). ANKRD17 also interacts with molecules that mediate immune responses to bacteria and viruses (Wang et al., 2012; Menning and Kufer, 2013). </p>
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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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<span class="mim-text-font">
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<p>Using TAP tag purification, Deng et al. (2009) identified ANKRD17 as a substrate of CCNE1/CDK2. The predicted 2,352-amino acid ANKRD17 protein contains clusters of 15 and 10 ankyrin repeats in its N-terminal half, followed by a nuclear export signal, a nuclear localization signal, a KH domain, and an RxL motif. RT-PCR analysis detected ubiquitous expression in human tissues. Immunoblot analysis showed nuclear expression and chromatin binding in human cells. Mass spectrometric analysis identified serine phosphorylation sites at positions 1791, 1794, and 2150. </p>
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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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<span class="mim-text-font">
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<p>Using an in vitro kinase assay, Deng et al. (2009) showed that phosphorylation of ANKRD17 was mediated by CCNE1/CDK2. Overexpression of ANKRD17 promoted cell cycle progression in human U2OS cells. Treatment with short interfering RNA (siRNA) blocked U2OS cells from entering S phase and prevented loading of CDC6 (602627) and PCNA (176740) onto chromatin. Immunoprecipitation analysis of transfected 293T cells revealed that ANKRD17 also interacted with proteins involved in DNA replication, including MCM3 (602693), MCM5 (602696), MCM7 (600592), CDC6, and PCNA. Deng et al. (2009) concluded that ANKRD17 is an important downstream effector of CCNE1/CDK2 that positively regulates G1/S transition. </p><p>RIGI (DDX58; 609631)-like receptors (RLRs) are intracellular molecules that sense viral RNAs and trigger immune responses. Wang et al. (2012) found that ANKRD17 interacted with the RLRs RIGI, MDA5 (606951), and VISA (MAVS; 609676). Overexpression of ANKRD17 enhanced signaling of these molecules and activation of IRF3 (603734) and NFKB (164011) and transcription of IFNB (147640) in transfected 293T cells. Knockdown of ANKRD17 impaired RLR signaling. Wang et al. (2012) concluded that ANKRD17 is a positive regulator of the RLR signaling pathway. </p><p>Menning and Kufer (2013) showed that the ANKRD17 N-terminal domain bound NOD2 (605956) in human cells. Knockdown and overexpression analyses revealed that ANKRD17 was functionally involved in NOD2- and NOD1 (605980)-mediated responses to bacteria in different human cell lines. Menning and Kufer (2013) concluded that ANKRD17 functions in innate antibacterial immune pathways. </p>
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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>Deng et al. (2009) stated that the ANKRD17 gene maps to chromosome 4q13.3. </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>Cytogenetics</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>In a patient (individual 6) with Chopra-Amiel-Gordon syndrome (CAGS; 619504), Chopra et al. (2021) identified a de novo heterozygous 1.16-Mb deletion encompassing 7 genes, including ANKRD17, by array CGH. The other 6 genes in the region were associated with an autosomal recessive pattern of disease inheritance when mutated (ADAMTS3, 605011; ALB, 103600; AFP, 104150) or were not known to be associated with a disease (COX18, 610428; AFM, 104150; RASSF6, 612620). Chopra et al. (2021) therefore considered ANKRD17 to be the most likely candidate gene underlying the patient's phenotype. </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>In 34 patients from 32 families with Chopra-Amiel-Gordon syndrome, Chopra et al. (2021) identified heterozygous mutations in the ANKRD17 gene (see, e.g., 615929.0001-615929.0005). The mutations included 21 truncating or canonical splice site mutations, 9 missense mutations, 1 in-frame indel, and 1 heterozygous microdeletion including additional genes. The mutations were shown to be de novo in 29 patients, inherited from an affected parent in 1 patient (615929.0004), and inherited from a parent with low-level mosaicism for an ANKRD17 mutation in 1 patient. Parental inheritance was not determined in 3 patients. One pair of monozygotic twins, who were heterozygous for a missense mutation (A377T), had a discordant phenotype. Molecular modeling suggested that most of the missense mutations disrupted the stability of ankyrin repeats. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CHOPRA-AMIEL-GORDON 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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ANKRD17, IVS11AS, A-C, -2
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<br />
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SNP: rs2148823868,
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ClinVar: RCV001591777
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<span class="mim-text-font">
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<p>In an Algerian woman (individual 1) with Chopra-Amiel-Gordon syndrome (CAGS; 619504), Chopra et al. (2021) identified a de novo heterozygous c.1958-2A-C transition (c.1958-2A-C, NM_032217.4) in intron 11 of the ANKRD17 gene, predicted to result in a splicing abnormality. The mutation was identified by trio whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the gnomAD database. Functional studies were not performed. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0002 CHOPRA-AMIEL-GORDON 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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ANKRD17, GLY1364ALA
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<br />
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SNP: rs2148684587,
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ClinVar: RCV001591778
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 4-year-old Indian boy (individual 2) with Chopra-Amiel-Gordon syndrome (CAGS; 619504), Chopra et al. (2021) identified a de novo heterozygous c.4091G-C transversion (c.4091G-C, NM_032217.4) in exon 22 of the ANKRD17 gene, resulting in a gly1364-to-ala (G1364A) substitution at a conserved residue in the ankyrin repeats. The mutation was identified by trio whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the gnomAD database. Functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CHOPRA-AMIEL-GORDON 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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ANKRD17, 4-BP DEL, NT4341
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<br />
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SNP: rs2148661856,
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ClinVar: RCV001591779
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 5-year-old girl (individual 3) with Chopra-Amiel-Gordon syndrome (CAGS; 619504), Chopra et al. (2021) identified a de novo heterozygous 4-bp deletion (c.4341_4344del, NM_032217.4) in exon 24 of the ANKRD17 gene, predicted to result in a frameshift and premature termination (Gln1448LeufsTer12). The mutation was identified by trio whole-exome sequencing and was not present in the gnomAD database. Functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CHOPRA-AMIEL-GORDON 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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ANKRD17, GLU875TER
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<br />
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SNP: rs1578168407,
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ClinVar: RCV000851304, RCV001593058
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a mother and son (individuals 11 and 12) with Chopra-Amiel-Gordon syndrome (CAGS; 619504), Chopra et al. (2021) identified heterozygosity for a c.2623G-T transversion (2623G-T, NM_032217.4) in exon 15 of the ANKRD17, resulting in a glu875-to-ter (E875X) substitution. The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. Functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 CHOPRA-AMIEL-GORDON 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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ANKRD17, 1-BP DUP, NT5756
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<br />
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SNP: rs1722830922,
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ClinVar: RCV001007894, RCV001593180
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (individual 14) with Chopra-Amiel-Gordon Syndrome (CAGS; 619504), Chopra et al. (2021) identified a de novo heterozygous 1-bp duplication (c.5756dup, NM_032217.4) in exon 29 of the ANKRD17 gene, predicted to result in a frameshift and premature termination (Ala1920SerfsTer). The mutation was identified by trio whole-exome sequencing and confirmed by Sanger sequencing. The mutation was not present in the gnomAD database. Functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Capuccio, G., and 72 others.
|
|
<strong>Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.</strong>
|
|
Am. J. Hum. Genet. 108: 1138-1150, 2021.
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[PubMed: 33909992]
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[Full Text: https://doi.org/10.1016/j.ajhg.2021.04.007]
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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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Deng, M., Li, F., Ballif, B. A., Li, S., Chen, X., Guo, L., Ye, X.
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<strong>Identification and functional analysis of a novel cyclin E/Cdk2 substrate Ankrd17.</strong>
|
|
J. Biol. Chem. 284: 7875-7888, 2009.
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[PubMed: 19150984]
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[Full Text: https://doi.org/10.1074/jbc.M807827200]
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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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Menning, M., Kufer, T. A.
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<strong>A role for the ankyrin repeat containing protein Ankrd17 in Nod1- and Nod2-mediated inflammatory responses.</strong>
|
|
FEBS Lett. 587: 2137-2142, 2013.
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[PubMed: 23711367]
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[Full Text: https://doi.org/10.1016/j.febslet.2013.05.037]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Wang, Y., Tong, X., Li, G., Li, J., Deng, M., Ye, X.
|
|
<strong>Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling.</strong>
|
|
Europ. J. Immun. 42: 1304-1315, 2012.
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[PubMed: 22328336]
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[Full Text: https://doi.org/10.1002/eji.201142125]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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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Hilary J. Vernon - updated : 08/30/2021
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<span class="text-nowrap mim-text-font">
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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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Paul J. Converse : 8/8/2014
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</span>
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</div>
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</div>
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<div>
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Edit History:
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<span class="mim-text-font">
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joanna : 09/13/2021<br>carol : 09/01/2021<br>carol : 08/31/2021<br>carol : 08/30/2021<br>mgross : 08/26/2014<br>mgross : 8/26/2014<br>mcolton : 8/8/2014
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