3770 lines
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3770 lines
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Entry
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- *600712 - HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*600712</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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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600712">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000165119;t=ENST00000376263" 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=3190" 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=600712" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000165119;t=ENST00000376263" 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_001318186,NM_001318187,NM_001318188,NM_002140,NM_031262,NM_031263,XM_005251960,XM_005251963,XM_005251965" 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_031263" 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=600712" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02834&isoform_id=02834_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/HNRNPK" 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/241478,460789,12653175,14165435,14165437,14165439,15929044,48145659,48429103,59381084,62088704,119583079,119583080,119583081,119583082,119583083,119583084,119583085,158256108,193784719,193788384,194374597,194376532,197692227,197692481,530391059,530391065,530391069,970598247,970598249,970949444,2462624461,2462624463,2462624465" 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/P61978" 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=3190" 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=ENSG00000165119;t=ENST00000376263" 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=HNRNPK" 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=HNRNPK" 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+3190" 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/HNRNPK" 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:3190" 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/3190" 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=chr9&hgg_gene=ENST00000376263.8&hgg_start=83968083&hgg_end=83980615&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:5044" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:5044" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/hnrnpk" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600712[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600712[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/HNRNPK/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/ENSG00000165119" 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=HNRNPK" 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=HNRNPK" 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=HNRNPK" 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=HNRNPK&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/PA162391350" 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:5044" 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/FBgn0267791.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:99894" 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/HNRNPK#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:99894" 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/3190/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=3190" 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=WBGene00017816;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1926" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3190" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=HNRNPK&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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600712
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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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|
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK
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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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HNRPK
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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=HNRNPK" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HNRNPK</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/9/272?start=-3&limit=10&highlight=272">9q21.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:83968083-83980615&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'})">9:83,968,083-83,980,615</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/9/272?start=-3&limit=10&highlight=272">
|
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9q21.32
|
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</a>
|
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</span>
|
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</td>
|
|
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<td>
|
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<span class="mim-font">
|
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Au-Kline syndrome
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/616580"> 616580 </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/600712" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600712" 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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<p>HNRNPK is a conserved RNA-binding protein that is involved in multiple processes of gene expression, including chromatin remodeling, transcription, and mRNA splicing, translation, and stability. These multiple functions of HNRNPK reflect its ability to associate with a diverse group of molecular partners (summary by <a href="#6" class="mim-tip-reference" title="Fukuda, T., Naiki, T., Saito, M., Irie, K. <strong>hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.</strong> Genes Cells 14: 113-128, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19170760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19170760</a>] [<a href="https://doi.org/10.1111/j.1365-2443.2008.01256.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19170760">Fukuda et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19170760" 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="#4" class="mim-tip-reference" title="Dejgaard, K., Leffers, H., Rasmussen, H. H., Madsen, P., Kruse, T. A., Gesser, B., Nielsen, H., Celis, J. E. <strong>Identification, molecular cloning, expression and chromosome mapping of a family of transformation upregulated hnRNP-K proteins derived by alternative splicing.</strong> J. Molec. Biol. 236: 33-48, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8107114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8107114</a>] [<a href="https://doi.org/10.1006/jmbi.1994.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8107114">Dejgaard et al. (1994)</a> identified HNRNPK acidic nuclear proteins using a monoclonal antibody that distinguished between quiescent and proliferating human keratinocytes. At least 4 major HNRNPK proteins (HNRNPK-A, -B, -C, and -D) and their modified forms were present in similar overall levels in quiescent and proliferating normal keratinocytes, although clear differences were observed in levels of some of the individual isoforms. Using a monoclonal antibody as a probe, <a href="#4" class="mim-tip-reference" title="Dejgaard, K., Leffers, H., Rasmussen, H. H., Madsen, P., Kruse, T. A., Gesser, B., Nielsen, H., Celis, J. E. <strong>Identification, molecular cloning, expression and chromosome mapping of a family of transformation upregulated hnRNP-K proteins derived by alternative splicing.</strong> J. Molec. Biol. 236: 33-48, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8107114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8107114</a>] [<a href="https://doi.org/10.1006/jmbi.1994.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8107114">Dejgaard et al. (1994)</a> cloned a cDNA coding for HNRNPK-B, and this was used to screen for additional clones. Sequencing of positive clones revealed 4 HNRNPK splice variants encoding HNRNPK-A, -B, -C, and -D. The HNRNPK isoforms contain 458 to 464 amino acids and have calculated molecular masses of 50 to 51 kD. The 458-amino acid isoform A contains an N-terminal acidic domain, followed by 2 repeats of about 70 amino acids each, an RGG box, a proline-rich segment, and a third repeat at the C terminus. The 4 proteins resolved in a 2-dimensional gel with apparent molecular masses of 64 to 66 kD and pI from 4.9 to 5.5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8107114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Northern blot analysis, <a href="#6" class="mim-tip-reference" title="Fukuda, T., Naiki, T., Saito, M., Irie, K. <strong>hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.</strong> Genes Cells 14: 113-128, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19170760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19170760</a>] [<a href="https://doi.org/10.1111/j.1365-2443.2008.01256.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19170760">Fukuda et al. (2009)</a> detected variable Hnrnpk expression in all mouse tissues examined except skeletal muscle. Expression was also detected in 2 mouse and 2 human cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19170760" 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="#12" class="mim-tip-reference" title="Poenisch, M., Metz, P., Blankenburg, H., Ruggieri, A., Lee, J.-Y., Rupp, D., Rebhan, I., Diederich, K., Kaderali, L., Domingues, F. S., Albrecht, M., Lohmann, V., Erfle, H., Bartenschlager, R. <strong>Identification of HNRNPK as regulator of hepatitis C virus particle production.</strong> PLoS Pathog. 11: e1004573, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25569684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25569684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25569684[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/10.1371/journal.ppat.1004573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25569684">Poenisch et al. (2015)</a> stated that HNRNPK contains an N-terminal nuclear localization signal, followed by 2 RNA-binding domains, a protein interaction domain, a nuclear shuttling domain, and a C-terminal DNA-binding domain. A C-terminal kinase interaction domain overlaps the nuclear shuttling domain and the DNA-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25569684" 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="#4" class="mim-tip-reference" title="Dejgaard, K., Leffers, H., Rasmussen, H. H., Madsen, P., Kruse, T. A., Gesser, B., Nielsen, H., Celis, J. E. <strong>Identification, molecular cloning, expression and chromosome mapping of a family of transformation upregulated hnRNP-K proteins derived by alternative splicing.</strong> J. Molec. Biol. 236: 33-48, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8107114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8107114</a>] [<a href="https://doi.org/10.1006/jmbi.1994.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8107114">Dejgaard et al. (1994)</a> noted that HNRNPK has been implicated in pre-mRNA metabolism of transcripts containing cytidine-rich sequences. The results of <a href="#4" class="mim-tip-reference" title="Dejgaard, K., Leffers, H., Rasmussen, H. H., Madsen, P., Kruse, T. A., Gesser, B., Nielsen, H., Celis, J. E. <strong>Identification, molecular cloning, expression and chromosome mapping of a family of transformation upregulated hnRNP-K proteins derived by alternative splicing.</strong> J. Molec. Biol. 236: 33-48, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8107114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8107114</a>] [<a href="https://doi.org/10.1006/jmbi.1994.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8107114">Dejgaard et al. (1994)</a> pointed toward a role in cell cycle progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8107114" 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="#7" class="mim-tip-reference" title="Inoue, A., Sawata, S. Y., Taira, K., Wadhwa, R. <strong>Loss-of-function screening by randomized intracellular antibodies: identification of hnRNP-K as a potential target for metastasis.</strong> Proc. Nat. Acad. Sci. 104: 8983-8988, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17483488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17483488</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17483488[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0607595104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17483488">Inoue et al. (2007)</a> found that intracellular anti-HNRNPK compromised cell migration of human fibrosarcoma cells. They found that cytoplasmic accumulation of HNRNPK was crucial for cell migration and metastasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17483488" 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>Using yeast 2-hybrid assays, <a href="#6" class="mim-tip-reference" title="Fukuda, T., Naiki, T., Saito, M., Irie, K. <strong>hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.</strong> Genes Cells 14: 113-128, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19170760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19170760</a>] [<a href="https://doi.org/10.1111/j.1365-2443.2008.01256.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19170760">Fukuda et al. (2009)</a> found that rat Rbm42 (<a href="/entry/613232">613232</a>) interacted with human HNRNPK, and mutation analyses revealed that the C-terminal RRM of Rbm42 interacted with the C-terminal KH domain of HNRNPK. Epitope-tagged and endogenous human RBM42 isoforms and HNRNPK coimmunoprecipitated in reciprocal reactions using HEK293 and HeLa cell lysates, and both RBM42 and HNRNPK also independently bound RNA. The isolated C-terminal domains of human RBM42 and HNRNPK interacted in vitro. In vivo, however, RNA appeared to mediate the association of the full-length proteins, since RNase treatment disrupted their interaction. Immunofluorescence microscopy revealed that both proteins predominantly localized in the nucleus of MTD-1A mouse mammary tumor cells. Following cell stress, they independently localized in cytoplasmic stress granules, transient foci that sequester mRNAs of housekeeping genes during cell stress. Depletion of Hnrnpk, but not Rbm42, in MTD-1A cells interfered with the recovery of ATP production following release from cell stress. However, simultaneous Hnrnpk and Rbm42 depletion further reduced cellular ATP levels following release from cell stress. <a href="#6" class="mim-tip-reference" title="Fukuda, T., Naiki, T., Saito, M., Irie, K. <strong>hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.</strong> Genes Cells 14: 113-128, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19170760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19170760</a>] [<a href="https://doi.org/10.1111/j.1365-2443.2008.01256.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19170760">Fukuda et al. (2009)</a> concluded that HNRNPK and RBM42 are involved in the maintenance of cellular ATP levels during stress, possibly by protecting critical mRNAs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19170760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By conducting a comprehensive whole-virus RNA interference-based screen, <a href="#12" class="mim-tip-reference" title="Poenisch, M., Metz, P., Blankenburg, H., Ruggieri, A., Lee, J.-Y., Rupp, D., Rebhan, I., Diederich, K., Kaderali, L., Domingues, F. S., Albrecht, M., Lohmann, V., Erfle, H., Bartenschlager, R. <strong>Identification of HNRNPK as regulator of hepatitis C virus particle production.</strong> PLoS Pathog. 11: e1004573, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25569684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25569684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25569684[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/10.1371/journal.ppat.1004573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25569684">Poenisch et al. (2015)</a> identified 40 host dependency and 16 host restriction factors, including HNRNPK, involved in entry/replication or assembly/release of hepatitis C virus (HCV; see <a href="/entry/609532">609532</a>). HNRNPK suppressed particle production of HCV, but not of Dengue virus (see <a href="/entry/614371">614371</a>), without affecting viral RNA replication. Knockdown and rescue experiments revealed that the single-strand RNA-binding domains and the protein-binding domain of HNRNPK were required for suppression of HCV particle production. Interaction of HCV RNA with HNRNPK was specific and was impaired by mutations that reduced the suppression of HCV particle production. In HCV-infected cells, the subcellular distribution of HNRNPK shifted to sites in close proximity to lipid droplets, and HNRNPK colocalized with HCV core protein and HCV plus-strand RNA. Altered HNRNPK distribution did not occur with HNRNPK variants unable to suppress HCV virion formation. <a href="#12" class="mim-tip-reference" title="Poenisch, M., Metz, P., Blankenburg, H., Ruggieri, A., Lee, J.-Y., Rupp, D., Rebhan, I., Diederich, K., Kaderali, L., Domingues, F. S., Albrecht, M., Lohmann, V., Erfle, H., Bartenschlager, R. <strong>Identification of HNRNPK as regulator of hepatitis C virus particle production.</strong> PLoS Pathog. 11: e1004573, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25569684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25569684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25569684[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/10.1371/journal.ppat.1004573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25569684">Poenisch et al. (2015)</a> concluded that HNRNPK may determine the efficiency of HCV particle production and limit the availability of viral RNA for incorporation into virions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25569684" 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="#14" class="mim-tip-reference" title="Sweetser, D. A., Peniket, A. J., Haaland, C., Blomberg, A. A., Zhang, Y., Zaidi, S. T., Dayyani, F., Zhao, Z., Heerema, N. A., Boultwood, J., Dewald, G. W., Paietta, E., Slovak, M. L., Willman, C. L., Wainscoat, J. S., Bernstein, I. D., Daly, S. B. <strong>Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia.</strong> Genes Chromosomes Cancer 44: 279-291, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16015647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16015647</a>] [<a href="https://doi.org/10.1002/gcc.20236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16015647">Sweetser et al. (2005)</a> determined that the HNRNPK gene contains 15 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16015647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By genomic sequence analysis, <a href="#13" class="mim-tip-reference" title="Reddy, S. D. N., Ohshiro, K., Rayala, S. K., Kumar, R. <strong>MicroRNA-7, a homeobox D10 target, inhibits p21-activated kinase 1 and regulates its function.</strong> Cancer Res. 68: 8195-8200, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18922890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18922890</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18922890[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/10.1158/0008-5472.CAN-08-2103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18922890">Reddy et al. (2008)</a> found that the first intron of HNRNPK contains the gene for microRNA-7-1 (MIR7-1; <a href="/entry/615239">615239</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18922890" 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="#4" class="mim-tip-reference" title="Dejgaard, K., Leffers, H., Rasmussen, H. H., Madsen, P., Kruse, T. A., Gesser, B., Nielsen, H., Celis, J. E. <strong>Identification, molecular cloning, expression and chromosome mapping of a family of transformation upregulated hnRNP-K proteins derived by alternative splicing.</strong> J. Molec. Biol. 236: 33-48, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8107114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8107114</a>] [<a href="https://doi.org/10.1006/jmbi.1994.1116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8107114">Dejgaard et al. (1994)</a> mapped the HNRNPK gene to chromosome 9 by Southern blot analysis of human/rodent somatic cell hybrids. <a href="#15" class="mim-tip-reference" title="Tommerup, N., Leffers, H. <strong>Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.</strong> Genomics 32: 297-298, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8833161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8833161</a>] [<a href="https://doi.org/10.1006/geno.1996.0121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8833161">Tommerup and Leffers (1996)</a> mapped the HNRNPK gene to chromosome 9q21.32-q21.33 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8107114+8833161" 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 2 unrelated boys with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#2" class="mim-tip-reference" title="Au, P. Y. B., You, J., Caluseriu, O., Schwartzentruber, J., Majewski, J., Bernier, F. P., Ferguson, M., Care for Rare Canada Consortium, Valle, D., Parboosingh, J. S., Sobreira, N., Innes, A. M., Kline, A. D. <strong>GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.</strong> Hum. Mutat. 36: 1009-1014, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26173930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26173930</a>] [<a href="https://doi.org/10.1002/humu.22837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26173930">Au et al. (2015)</a> identified different de novo heterozygous, putative loss-of-function mutations in the HNRNPK gene (<a href="#0001">600712.0001</a> and <a href="#0002">600712.0002</a>). The mutations were found by exome sequencing. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26173930" 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>Using trio-based whole-exome sequencing, <a href="#8" class="mim-tip-reference" title="Lange, L., Pagnamenta, A. T., Lise, S., Clasper, S., Stewart, H., Akha, E. S., Quaghebeur, G., Knight, S. J. L., Keays, D. A., Taylor, J. C., Kini, U. <strong>A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.</strong> Clin. Genet. 90: 258-262, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26954065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26954065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26954065[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/10.1111/cge.12773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26954065">Lange et al. (2016)</a> identified a de novo heterozygous frameshift mutation in the HNRNPK gene (<a href="#0003">600712.0003</a>) in a boy (BRC052) with a phenotype consistent with AUKS. The variant, which was confirmed by Sanger sequencing, was expected to result in a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26954065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By exome sequencing, <a href="#10" class="mim-tip-reference" title="Miyake, N., Inaba, M., Mizuno, S., Shiina, M., Imagawa, E., Miyatake, S., Nakashima, M., Mizuguchi, T., Takata, A., Ogata, K., Matsumoto, N. <strong>A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. (Letter)</strong> Clin. Genet. 92: 554-555, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28771707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28771707</a>] [<a href="https://doi.org/10.1111/cge.13023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28771707">Miyake et al. (2017)</a> identified a de novo heterozygous missense mutation in the HNRNPK gene (L155P; <a href="#0005">600712.0005</a>) in a Japanese boy with AUKS. The variant was confirmed by Sanger sequencing and was not present in the ExAC, Exome Variant Server, or Human Genetic Variation databases or in an in-house database of 575 exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28771707" 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>Using whole-exome sequencing, <a href="#1" class="mim-tip-reference" title="Au, P. Y. B., Goedhart, C., Ferguson, M., Breckpot, J., Devriendt, K., Wierenga, K., Fanning, E., Grange, D. K., Graham, G. E., Galarreta, C., Jones, M. C., Kini, U., Stewart, H., Parboosingh, J. S., Kline, A. D., Innes, A. M., Care for Rare Canada Consortium. <strong>Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.</strong> Europ. J. Hum. Genet. 26: 1272-1281, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29904177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29904177</a>] [<a href="https://doi.org/10.1038/s41431-018-0187-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29904177">Au et al. (2018)</a> identified 5 patients with AUKS who had de novo heterozygous loss-of-function variants in the HNRNPK gene (see, e.g., <a href="#0004">600712.0004</a>). In addition, they reported a girl (patient 10) with a de novo 264-kb microdeletion encompassing 9q21.32, which disrupted HNRNPK as well as 3 additional genes and a microRNA with no known human disease association. The common phenotype between the patients with HNRNPK truncating variants and the microdeletion supported haploinsufficiency of the HNRNPK gene as the pathogenic mechanism of AUKS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29904177" 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="Choufani, S., McNiven, V., Cytrynbaum, C., Jangjoo, M., Adam, M. P., Bjornsson, H. T., Harris, J., Dyment, D. A., Graham, G. E., Nezarati, M. M., Aul, R. B., Castiglioni, C., and 50 others. <strong>An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.</strong> Am. J. Hum. Genet. 109: 1867-1884, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36130591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36130591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36130591[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.08.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36130591">Choufani et al. (2022)</a> reported heterozygous mutations in the HNRNPK gene in a cohort of 32 patients with AUKS, 6 of whom had previously been reported. In the cohort, 13 patients had missense mutations (including E85K (<a href="#0006">600712.0006</a>), reported in 5 unrelated patients), 8 patients had nonsense mutations, 4 patients had intronic mutations, 3 patients had splicing mutations, 2 patients had frameshift mutations, 1 patient had an in-frame indel, and 1 patient had a large (264 kb) deletion that involved the HNRNPK gene. About 85% of the mutations were clustered in the K homology RNA-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36130591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-year-old Japanese boy, born of nonconsanguineous parents, with Okamoto syndrome, <a href="#11" class="mim-tip-reference" title="Okamoto, N. <strong>Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation.</strong> Am. J. Med. Genet. 179A: 822-826, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30793470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30793470</a>] [<a href="https://doi.org/10.1002/ajmg.a.61079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30793470">Okamoto (2019)</a> identified a de novo heterozygous splice site mutation in the HNRNPK gene (<a href="/entry/600713#0007">600713.0007</a>). The mutation was found by Sanger sequencing of the HNRNPK gene. Based on the similarity between Okamoto syndrome and AUKS and the finding of mutations in HNRNPK in patients with Okamoto syndrome, these disorders are considered to be identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30793470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 10-year-old girl, born of nonconsanguineous parents, with Okamoto syndrome, <a href="#9" class="mim-tip-reference" title="Maystadt, I., Deprez, M., Moortgat, S., Benoit, V., Karadurmus, D. <strong>A second case of Okamoto syndrome caused by HNRNPK mutation.</strong> Am. J. Med. Genet. 182A: 1537-1539, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32222014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32222014</a>] [<a href="https://doi.org/10.1002/ajmg.a.61568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32222014">Maystadt et al. (2020)</a> identified a de novo heterozygous splice site mutation in the HNRNPK gene (<a href="/entry/600713#0008">600713.0008</a>). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32222014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 11-year-old girl with AUKS, who was initially thought to have Kabuki syndrome, <a href="#5" class="mim-tip-reference" title="Dentici, M. L., Barresi, S., Niceta, M., Pantaleoni, F., Pizzi, S., Dallapiccola, B., Tartaglia, M., Digilio, M. C. <strong>Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.</strong> Clin. Genet. 93: 401-407, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28374925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28374925</a>] [<a href="https://doi.org/10.1111/cge.13029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28374925">Dentici et al. (2018)</a> identified a de novo heterozygous mutation 1-bp duplication in the HNRNPK gene (<a href="/entry/600713#0009">600713.0009</a>). mRNA analysis in patient leukocytes demonstrated lack of expression of the HNRNPK allele with the mutation, indicating that the mutation led to nonsense-mediated decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28374925" 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 17-year-old boy with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#2" class="mim-tip-reference" title="Au, P. Y. B., You, J., Caluseriu, O., Schwartzentruber, J., Majewski, J., Bernier, F. P., Ferguson, M., Care for Rare Canada Consortium, Valle, D., Parboosingh, J. S., Sobreira, N., Innes, A. M., Kline, A. D. <strong>GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.</strong> Hum. Mutat. 36: 1009-1014, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26173930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26173930</a>] [<a href="https://doi.org/10.1002/humu.22837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26173930">Au et al. (2015)</a> identified a de novo heterozygous 1-bp duplication (c.953+1dupC, NM_002140.3) in the HNRNPK gene between the +1 and +2 splice sites, which was predicted to alter gene expression either through nonsense-mediated mRNA decay or a frameshift and premature termination (Gly319ArgfsTer6). The mutation was found by exome sequencing, confirmed by Sanger sequencing, and filtered against the dbSNP database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26173930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863223403 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223403;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=rs863223403" 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=rs863223403" 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=RCV000195291" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000195291" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000195291</a>
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<p>In an 11-year-old boy with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#2" class="mim-tip-reference" title="Au, P. Y. B., You, J., Caluseriu, O., Schwartzentruber, J., Majewski, J., Bernier, F. P., Ferguson, M., Care for Rare Canada Consortium, Valle, D., Parboosingh, J. S., Sobreira, N., Innes, A. M., Kline, A. D. <strong>GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.</strong> Hum. Mutat. 36: 1009-1014, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26173930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26173930</a>] [<a href="https://doi.org/10.1002/humu.22837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26173930">Au et al. (2015)</a> identified a de novo heterozygous c.257G-A transition (c.257G-A, NM_002140.3) in the HNRNPK gene. Although the sequence change was predicted to result in an arg86-to-his (R86H) substitution, it occurred in the last codon of exon 5 and was predicted to result in a splice site mutation. Western blot analysis of patient cells showed that the protein was significantly decreased by about 50% compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26173930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs879255263 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs879255263;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=rs879255263" 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=rs879255263" 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=RCV000239391" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239391" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239391</a>
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<p>Using trio-based whole-exome sequencing, <a href="#8" class="mim-tip-reference" title="Lange, L., Pagnamenta, A. T., Lise, S., Clasper, S., Stewart, H., Akha, E. S., Quaghebeur, G., Knight, S. J. L., Keays, D. A., Taylor, J. C., Kini, U. <strong>A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.</strong> Clin. Genet. 90: 258-262, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26954065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26954065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26954065[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/10.1111/cge.12773" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26954065">Lange et al. (2016)</a> identified a de novo heterozygous 2-bp insertion (c.931_932insTT) in exon 11 of the HNRNPK gene in a boy (BRC052) with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>). The insertion was predicted to result in a frameshift (Pro31LeufsTer40) two-thirds through the coding sequence and was expected to result in a loss of function. The variant, which was confirmed by Sanger sequencing, was not present in the ExAC or 1000 Genomes Project databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26954065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 AU-KLINE SYNDROME</strong>
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HNRNPK, ASP262TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886041807 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041807;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=rs886041807" 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=rs886041807" 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=RCV000280016 OR RCV000599465" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000280016, RCV000599465" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000280016...</a>
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<p>In a 9-year-old boy with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#1" class="mim-tip-reference" title="Au, P. Y. B., Goedhart, C., Ferguson, M., Breckpot, J., Devriendt, K., Wierenga, K., Fanning, E., Grange, D. K., Graham, G. E., Galarreta, C., Jones, M. C., Kini, U., Stewart, H., Parboosingh, J. S., Kline, A. D., Innes, A. M., Care for Rare Canada Consortium. <strong>Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.</strong> Europ. J. Hum. Genet. 26: 1272-1281, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29904177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29904177</a>] [<a href="https://doi.org/10.1038/s41431-018-0187-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29904177">Au et al. (2018)</a> identified a de novo heterozygous 1-bp duplication (c.779dupG, NM_002140.4) in the HNRNPK gene, resulting in an asp262-to-ter (D262X) substitution that was predicted to result in a loss of function. The mutation, which was found by trio-based whole-exome sequencing, was confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29904177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 AU-KLINE 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">rs1564063967 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1564063967;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=rs1564063967" 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=rs1564063967" 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=RCV000766266 OR RCV001268875" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000766266, RCV001268875" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000766266...</a>
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<p>In a 4-year-old Japanese boy with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#10" class="mim-tip-reference" title="Miyake, N., Inaba, M., Mizuno, S., Shiina, M., Imagawa, E., Miyatake, S., Nakashima, M., Mizuguchi, T., Takata, A., Ogata, K., Matsumoto, N. <strong>A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. (Letter)</strong> Clin. Genet. 92: 554-555, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28771707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28771707</a>] [<a href="https://doi.org/10.1111/cge.13023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28771707">Miyake et al. (2017)</a> identified de novo heterozygosity for a c.464T-C transition (c.464T-C, NM_002140.4) in the HNRNPK gene, resulting in a leu155-to-pro (L155P) substitution at a highly conserved residue. Structural modeling showed that the mutation occurs in the first turn of helix alpha-1, suggesting that it affects a hydrophobic core packing involving the side chain of L155 and stability of helix alpha-1, thereby impairing the interaction of the protein with DNA or RNA. The variant was confirmed by Sanger sequencing and was not present in the ExAC, Exome Variant Server, or Human Genetic Variation databases or in an in-house database of 575 exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28771707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554700678 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554700678;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=rs1554700678" 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=rs1554700678" 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=RCV000522148 OR RCV000627090 OR RCV001267488" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000522148, RCV000627090, RCV001267488" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000522148...</a>
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<p>In 5 unrelated patients with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#3" class="mim-tip-reference" title="Choufani, S., McNiven, V., Cytrynbaum, C., Jangjoo, M., Adam, M. P., Bjornsson, H. T., Harris, J., Dyment, D. A., Graham, G. E., Nezarati, M. M., Aul, R. B., Castiglioni, C., and 50 others. <strong>An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.</strong> Am. J. Hum. Genet. 109: 1867-1884, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36130591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36130591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36130591[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.08.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36130591">Choufani et al. (2022)</a> identified a de novo heterozygous c.253G-A transition (c.253G-A, NM_002140.4) in exon 6 of the HNRNPK gene, resulting in a glu85-to-lys (E85K) substitution. In 3 patients who were tested, an intermediate AUKS-specific DNA methylation signature was identified in patient blood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36130591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 AU-KLINE SYNDROME</strong>
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HNRNPK, IVS16, G-A, +1
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003315468" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003315468" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003315468</a>
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<p>In a 4-year-old Japanese boy, born of nonconsanguineous parents, with Okamoto syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#11" class="mim-tip-reference" title="Okamoto, N. <strong>Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation.</strong> Am. J. Med. Genet. 179A: 822-826, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30793470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30793470</a>] [<a href="https://doi.org/10.1002/ajmg.a.61079" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30793470">Okamoto (2019)</a> identified a de novo heterozygous splice site mutation in intron 16 of the HNRNPK gene. The mutation was found by Sanger sequencing of the HNRNPK gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30793470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 AU-KLINE SYNDROME</strong>
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HNRNPK, IVS6, +5, G-A
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003315469" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003315469" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003315469</a>
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<p>In a patient with Okamoto syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#9" class="mim-tip-reference" title="Maystadt, I., Deprez, M., Moortgat, S., Benoit, V., Karadurmus, D. <strong>A second case of Okamoto syndrome caused by HNRNPK mutation.</strong> Am. J. Med. Genet. 182A: 1537-1539, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32222014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32222014</a>] [<a href="https://doi.org/10.1002/ajmg.a.61568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32222014">Maystadt et al. (2020)</a> identified de novo heterozygosity for a c.257+5G-A transition (c.257+5G-A, NM_002140.4) in intron 6 of the HNRNPK gene, predicted to result in a frameshift and premature termination (Ile87TyrfsTer12). The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. rDNA analysis in blood from the patient demonstrated that the c.257+5G-A mutation resulted in use of an intronic cryptic splicing site and a transcript with retention of 49 intronic nucleotides. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32222014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554698681 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554698681;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=rs1554698681" 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=rs1554698681" 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=RCV000599062" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000599062" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000599062</a>
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<p>In a patient with Au-Kline syndrome (AUKS; <a href="/entry/616580">616580</a>), <a href="#5" class="mim-tip-reference" title="Dentici, M. L., Barresi, S., Niceta, M., Pantaleoni, F., Pizzi, S., Dallapiccola, B., Tartaglia, M., Digilio, M. C. <strong>Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.</strong> Clin. Genet. 93: 401-407, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28374925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28374925</a>] [<a href="https://doi.org/10.1111/cge.13029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28374925">Dentici et al. (2018)</a> identified a de novo heterozygous 1-bp duplication (c.998dupA) in the HNRNPK gene, resulting in a tyr333-to-ter (Y333X) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. mRNA analysis in patient leukocytes demonstrated lack of expression of the HNRNPK allele with the c.998dupA mutation, indicating that the mutation led to nonsense-mediated decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28374925" 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>REFERENCES</strong>
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Au, P. Y. B., Goedhart, C., Ferguson, M., Breckpot, J., Devriendt, K., Wierenga, K., Fanning, E., Grange, D. K., Graham, G. E., Galarreta, C., Jones, M. C., Kini, U., Stewart, H., Parboosingh, J. S., Kline, A. D., Innes, A. M., Care for Rare Canada Consortium.
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<strong>Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.</strong>
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Europ. J. Hum. Genet. 26: 1272-1281, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29904177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29904177</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29904177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41431-018-0187-2" target="_blank">Full Text</a>]
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Au, P. Y. B., You, J., Caluseriu, O., Schwartzentruber, J., Majewski, J., Bernier, F. P., Ferguson, M., Care for Rare Canada Consortium, Valle, D., Parboosingh, J. S., Sobreira, N., Innes, A. M., Kline, A. D.
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<strong>GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.</strong>
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Hum. Mutat. 36: 1009-1014, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26173930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26173930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26173930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22837" target="_blank">Full Text</a>]
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Choufani, S., McNiven, V., Cytrynbaum, C., Jangjoo, M., Adam, M. P., Bjornsson, H. T., Harris, J., Dyment, D. A., Graham, G. E., Nezarati, M. M., Aul, R. B., Castiglioni, C., and 50 others.
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<strong>An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.</strong>
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Am. J. Hum. Genet. 109: 1867-1884, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36130591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36130591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=36130591[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=36130591" 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.2022.08.014" target="_blank">Full Text</a>]
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Dejgaard, K., Leffers, H., Rasmussen, H. H., Madsen, P., Kruse, T. A., Gesser, B., Nielsen, H., Celis, J. E.
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<strong>Identification, molecular cloning, expression and chromosome mapping of a family of transformation upregulated hnRNP-K proteins derived by alternative splicing.</strong>
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J. Molec. Biol. 236: 33-48, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8107114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8107114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8107114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/jmbi.1994.1116" target="_blank">Full Text</a>]
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Dentici, M. L., Barresi, S., Niceta, M., Pantaleoni, F., Pizzi, S., Dallapiccola, B., Tartaglia, M., Digilio, M. C.
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<strong>Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.</strong>
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Clin. Genet. 93: 401-407, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28374925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28374925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28374925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13029" target="_blank">Full Text</a>]
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<a id="Fukuda2009" class="mim-anchor"></a>
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Fukuda, T., Naiki, T., Saito, M., Irie, K.
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<strong>hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.</strong>
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Genes Cells 14: 113-128, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19170760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19170760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19170760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2443.2008.01256.x" target="_blank">Full Text</a>]
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<a id="Inoue2007" class="mim-anchor"></a>
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Inoue, A., Sawata, S. Y., Taira, K., Wadhwa, R.
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<strong>Loss-of-function screening by randomized intracellular antibodies: identification of hnRNP-K as a potential target for metastasis.</strong>
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Proc. Nat. Acad. Sci. 104: 8983-8988, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17483488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17483488</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17483488[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=17483488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0607595104" target="_blank">Full Text</a>]
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<a id="Lange2016" class="mim-anchor"></a>
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Lange, L., Pagnamenta, A. T., Lise, S., Clasper, S., Stewart, H., Akha, E. S., Quaghebeur, G., Knight, S. J. L., Keays, D. A., Taylor, J. C., Kini, U.
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<strong>A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.</strong>
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Clin. Genet. 90: 258-262, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26954065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26954065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26954065[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=26954065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.12773" target="_blank">Full Text</a>]
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<a id="Maystadt2020" class="mim-anchor"></a>
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Maystadt, I., Deprez, M., Moortgat, S., Benoit, V., Karadurmus, D.
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<strong>A second case of Okamoto syndrome caused by HNRNPK mutation.</strong>
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Am. J. Med. Genet. 182A: 1537-1539, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32222014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32222014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32222014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61568" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Miyake2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miyake, N., Inaba, M., Mizuno, S., Shiina, M., Imagawa, E., Miyatake, S., Nakashima, M., Mizuguchi, T., Takata, A., Ogata, K., Matsumoto, N.
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<strong>A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. (Letter)</strong>
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Clin. Genet. 92: 554-555, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28771707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28771707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28771707" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13023" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Okamoto2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Okamoto, N.
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<strong>Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation.</strong>
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Am. J. Med. Genet. 179A: 822-826, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30793470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30793470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30793470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61079" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Poenisch2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Poenisch, M., Metz, P., Blankenburg, H., Ruggieri, A., Lee, J.-Y., Rupp, D., Rebhan, I., Diederich, K., Kaderali, L., Domingues, F. S., Albrecht, M., Lohmann, V., Erfle, H., Bartenschlager, R.
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<strong>Identification of HNRNPK as regulator of hepatitis C virus particle production.</strong>
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PLoS Pathog. 11: e1004573, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25569684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25569684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25569684[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=25569684" 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/10.1371/journal.ppat.1004573" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Reddy2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reddy, S. D. N., Ohshiro, K., Rayala, S. K., Kumar, R.
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<strong>MicroRNA-7, a homeobox D10 target, inhibits p21-activated kinase 1 and regulates its function.</strong>
|
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Cancer Res. 68: 8195-8200, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18922890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18922890</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18922890[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=18922890" 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/10.1158/0008-5472.CAN-08-2103" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Sweetser2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sweetser, D. A., Peniket, A. J., Haaland, C., Blomberg, A. A., Zhang, Y., Zaidi, S. T., Dayyani, F., Zhao, Z., Heerema, N. A., Boultwood, J., Dewald, G. W., Paietta, E., Slovak, M. L., Willman, C. L., Wainscoat, J. S., Bernstein, I. D., Daly, S. B.
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<strong>Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia.</strong>
|
|
Genes Chromosomes Cancer 44: 279-291, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16015647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16015647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16015647" 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/gcc.20236" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Tommerup1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tommerup, N., Leffers, H.
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<strong>Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.</strong>
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Genomics 32: 297-298, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8833161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8833161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8833161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0121" target="_blank">Full Text</a>]
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</p>
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</div>
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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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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/20/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 11/18/2022<br>Sonja A. Rasmussen - updated : 04/08/2019<br>Sonja A. Rasmussen - updated : 03/26/2019<br>Cassandra L. Kniffin - updated : 10/5/2015<br>Paul J. Converse - updated : 3/17/2015<br>Patricia A. Hartz - updated : 5/20/2013<br>Patricia A. Hartz - updated : 1/26/2010<br>Patricia A. Hartz - updated : 1/16/2008<br>Patricia A. Hartz - updated : 8/9/2007<br>Alan F. Scott - updated : 4/4/1996
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/3/1995
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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="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/24/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/20/2023<br>carol : 11/18/2022<br>carol : 04/09/2019<br>carol : 04/08/2019<br>carol : 03/27/2019<br>carol : 03/26/2019<br>carol : 10/15/2015<br>carol : 10/6/2015<br>carol : 10/5/2015<br>carol : 10/5/2015<br>ckniffin : 10/5/2015<br>mgross : 3/25/2015<br>mgross : 3/25/2015<br>mcolton : 3/17/2015<br>mgross : 5/20/2013<br>mgross : 11/18/2011<br>terry : 11/11/2011<br>mgross : 1/26/2010<br>terry : 1/26/2010<br>mgross : 1/25/2008<br>terry : 1/16/2008<br>mgross : 8/17/2007<br>terry : 8/9/2007<br>jamie : 5/29/1997<br>mark : 4/17/1996<br>mark : 4/4/1996<br>terry : 4/4/1996<br>mark : 4/4/1996<br>mark : 4/4/1996<br>mark : 8/3/1995
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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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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 600712
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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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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HNRPK
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HNRNPK</em></strong>
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</span>
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</p>
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</div>
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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: 9q21.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:83,968,083-83,980,615 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<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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9q21.32
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<td>
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<span class="mim-font">
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Au-Kline 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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616580
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>HNRNPK is a conserved RNA-binding protein that is involved in multiple processes of gene expression, including chromatin remodeling, transcription, and mRNA splicing, translation, and stability. These multiple functions of HNRNPK reflect its ability to associate with a diverse group of molecular partners (summary by Fukuda et al., 2009). </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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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dejgaard et al. (1994) identified HNRNPK acidic nuclear proteins using a monoclonal antibody that distinguished between quiescent and proliferating human keratinocytes. At least 4 major HNRNPK proteins (HNRNPK-A, -B, -C, and -D) and their modified forms were present in similar overall levels in quiescent and proliferating normal keratinocytes, although clear differences were observed in levels of some of the individual isoforms. Using a monoclonal antibody as a probe, Dejgaard et al. (1994) cloned a cDNA coding for HNRNPK-B, and this was used to screen for additional clones. Sequencing of positive clones revealed 4 HNRNPK splice variants encoding HNRNPK-A, -B, -C, and -D. The HNRNPK isoforms contain 458 to 464 amino acids and have calculated molecular masses of 50 to 51 kD. The 458-amino acid isoform A contains an N-terminal acidic domain, followed by 2 repeats of about 70 amino acids each, an RGG box, a proline-rich segment, and a third repeat at the C terminus. The 4 proteins resolved in a 2-dimensional gel with apparent molecular masses of 64 to 66 kD and pI from 4.9 to 5.5. </p><p>By Northern blot analysis, Fukuda et al. (2009) detected variable Hnrnpk expression in all mouse tissues examined except skeletal muscle. Expression was also detected in 2 mouse and 2 human cell lines. </p><p>Poenisch et al. (2015) stated that HNRNPK contains an N-terminal nuclear localization signal, followed by 2 RNA-binding domains, a protein interaction domain, a nuclear shuttling domain, and a C-terminal DNA-binding domain. A C-terminal kinase interaction domain overlaps the nuclear shuttling domain and the DNA-binding domain. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dejgaard et al. (1994) noted that HNRNPK has been implicated in pre-mRNA metabolism of transcripts containing cytidine-rich sequences. The results of Dejgaard et al. (1994) pointed toward a role in cell cycle progression. </p><p>Inoue et al. (2007) found that intracellular anti-HNRNPK compromised cell migration of human fibrosarcoma cells. They found that cytoplasmic accumulation of HNRNPK was crucial for cell migration and metastasis. </p><p>Using yeast 2-hybrid assays, Fukuda et al. (2009) found that rat Rbm42 (613232) interacted with human HNRNPK, and mutation analyses revealed that the C-terminal RRM of Rbm42 interacted with the C-terminal KH domain of HNRNPK. Epitope-tagged and endogenous human RBM42 isoforms and HNRNPK coimmunoprecipitated in reciprocal reactions using HEK293 and HeLa cell lysates, and both RBM42 and HNRNPK also independently bound RNA. The isolated C-terminal domains of human RBM42 and HNRNPK interacted in vitro. In vivo, however, RNA appeared to mediate the association of the full-length proteins, since RNase treatment disrupted their interaction. Immunofluorescence microscopy revealed that both proteins predominantly localized in the nucleus of MTD-1A mouse mammary tumor cells. Following cell stress, they independently localized in cytoplasmic stress granules, transient foci that sequester mRNAs of housekeeping genes during cell stress. Depletion of Hnrnpk, but not Rbm42, in MTD-1A cells interfered with the recovery of ATP production following release from cell stress. However, simultaneous Hnrnpk and Rbm42 depletion further reduced cellular ATP levels following release from cell stress. Fukuda et al. (2009) concluded that HNRNPK and RBM42 are involved in the maintenance of cellular ATP levels during stress, possibly by protecting critical mRNAs. </p><p>By conducting a comprehensive whole-virus RNA interference-based screen, Poenisch et al. (2015) identified 40 host dependency and 16 host restriction factors, including HNRNPK, involved in entry/replication or assembly/release of hepatitis C virus (HCV; see 609532). HNRNPK suppressed particle production of HCV, but not of Dengue virus (see 614371), without affecting viral RNA replication. Knockdown and rescue experiments revealed that the single-strand RNA-binding domains and the protein-binding domain of HNRNPK were required for suppression of HCV particle production. Interaction of HCV RNA with HNRNPK was specific and was impaired by mutations that reduced the suppression of HCV particle production. In HCV-infected cells, the subcellular distribution of HNRNPK shifted to sites in close proximity to lipid droplets, and HNRNPK colocalized with HCV core protein and HCV plus-strand RNA. Altered HNRNPK distribution did not occur with HNRNPK variants unable to suppress HCV virion formation. Poenisch et al. (2015) concluded that HNRNPK may determine the efficiency of HCV particle production and limit the availability of viral RNA for incorporation into virions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sweetser et al. (2005) determined that the HNRNPK gene contains 15 exons. </p><p>By genomic sequence analysis, Reddy et al. (2008) found that the first intron of HNRNPK contains the gene for microRNA-7-1 (MIR7-1; 615239). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dejgaard et al. (1994) mapped the HNRNPK gene to chromosome 9 by Southern blot analysis of human/rodent somatic cell hybrids. Tommerup and Leffers (1996) mapped the HNRNPK gene to chromosome 9q21.32-q21.33 by fluorescence in situ hybridization. </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 2 unrelated boys with Au-Kline syndrome (AUKS; 616580), Au et al. (2015) identified different de novo heterozygous, putative loss-of-function mutations in the HNRNPK gene (600712.0001 and 600712.0002). The mutations were found by exome sequencing. Functional studies of the variants were not performed. </p><p>Using trio-based whole-exome sequencing, Lange et al. (2016) identified a de novo heterozygous frameshift mutation in the HNRNPK gene (600712.0003) in a boy (BRC052) with a phenotype consistent with AUKS. The variant, which was confirmed by Sanger sequencing, was expected to result in a loss of function. </p><p>By exome sequencing, Miyake et al. (2017) identified a de novo heterozygous missense mutation in the HNRNPK gene (L155P; 600712.0005) in a Japanese boy with AUKS. The variant was confirmed by Sanger sequencing and was not present in the ExAC, Exome Variant Server, or Human Genetic Variation databases or in an in-house database of 575 exomes. </p><p>Using whole-exome sequencing, Au et al. (2018) identified 5 patients with AUKS who had de novo heterozygous loss-of-function variants in the HNRNPK gene (see, e.g., 600712.0004). In addition, they reported a girl (patient 10) with a de novo 264-kb microdeletion encompassing 9q21.32, which disrupted HNRNPK as well as 3 additional genes and a microRNA with no known human disease association. The common phenotype between the patients with HNRNPK truncating variants and the microdeletion supported haploinsufficiency of the HNRNPK gene as the pathogenic mechanism of AUKS. </p><p>Choufani et al. (2022) reported heterozygous mutations in the HNRNPK gene in a cohort of 32 patients with AUKS, 6 of whom had previously been reported. In the cohort, 13 patients had missense mutations (including E85K (600712.0006), reported in 5 unrelated patients), 8 patients had nonsense mutations, 4 patients had intronic mutations, 3 patients had splicing mutations, 2 patients had frameshift mutations, 1 patient had an in-frame indel, and 1 patient had a large (264 kb) deletion that involved the HNRNPK gene. About 85% of the mutations were clustered in the K homology RNA-binding domain. </p><p>In a 4-year-old Japanese boy, born of nonconsanguineous parents, with Okamoto syndrome, Okamoto (2019) identified a de novo heterozygous splice site mutation in the HNRNPK gene (600713.0007). The mutation was found by Sanger sequencing of the HNRNPK gene. Based on the similarity between Okamoto syndrome and AUKS and the finding of mutations in HNRNPK in patients with Okamoto syndrome, these disorders are considered to be identical. </p><p>In a 10-year-old girl, born of nonconsanguineous parents, with Okamoto syndrome, Maystadt et al. (2020) identified a de novo heterozygous splice site mutation in the HNRNPK gene (600713.0008). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. </p><p>In an 11-year-old girl with AUKS, who was initially thought to have Kabuki syndrome, Dentici et al. (2018) identified a de novo heterozygous mutation 1-bp duplication in the HNRNPK gene (600713.0009). mRNA analysis in patient leukocytes demonstrated lack of expression of the HNRNPK allele with the mutation, indicating that the mutation led to nonsense-mediated decay. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>9 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 AU-KLINE 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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HNRNPK, 1-BP DUP, 953+1, C ({dbSNP SCV000223814})
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<br />
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SNP: rs863223402,
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ClinVar: RCV000195287
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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 17-year-old boy with Au-Kline syndrome (AUKS; 616580), Au et al. (2015) identified a de novo heterozygous 1-bp duplication (c.953+1dupC, NM_002140.3) in the HNRNPK gene between the +1 and +2 splice sites, which was predicted to alter gene expression either through nonsense-mediated mRNA decay or a frameshift and premature termination (Gly319ArgfsTer6). The mutation was found by exome sequencing, confirmed by Sanger sequencing, and filtered against the dbSNP database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 AU-KLINE 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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HNRNPK, 257G-A ({dbSNP SCV000223813})
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<br />
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SNP: rs863223403,
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ClinVar: RCV000195291
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an 11-year-old boy with Au-Kline syndrome (AUKS; 616580), Au et al. (2015) identified a de novo heterozygous c.257G-A transition (c.257G-A, NM_002140.3) in the HNRNPK gene. Although the sequence change was predicted to result in an arg86-to-his (R86H) substitution, it occurred in the last codon of exon 5 and was predicted to result in a splice site mutation. Western blot analysis of patient cells showed that the protein was significantly decreased by about 50% compared to controls. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 AU-KLINE 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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|
HNRNPK, 2-BP INS, 931TT ({dbSNP SCV000258957})
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<br />
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|
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SNP: rs879255263,
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ClinVar: RCV000239391
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>Using trio-based whole-exome sequencing, Lange et al. (2016) identified a de novo heterozygous 2-bp insertion (c.931_932insTT) in exon 11 of the HNRNPK gene in a boy (BRC052) with Au-Kline syndrome (AUKS; 616580). The insertion was predicted to result in a frameshift (Pro31LeufsTer40) two-thirds through the coding sequence and was expected to result in a loss of function. The variant, which was confirmed by Sanger sequencing, was not present in the ExAC or 1000 Genomes Project databases. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 AU-KLINE SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
HNRNPK, ASP262TER
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|
|
<br />
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|
|
SNP: rs886041807,
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|
|
ClinVar: RCV000280016, RCV000599465
|
|
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|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old boy with Au-Kline syndrome (AUKS; 616580), Au et al. (2018) identified a de novo heterozygous 1-bp duplication (c.779dupG, NM_002140.4) in the HNRNPK gene, resulting in an asp262-to-ter (D262X) substitution that was predicted to result in a loss of function. The mutation, which was found by trio-based whole-exome sequencing, was confirmed by Sanger sequencing. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 AU-KLINE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HNRNPK, LEU155PRO
|
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|
|
|
<br />
|
|
|
|
SNP: rs1564063967,
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|
|
|
|
|
|
|
ClinVar: RCV000766266, RCV001268875
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Japanese boy with Au-Kline syndrome (AUKS; 616580), Miyake et al. (2017) identified de novo heterozygosity for a c.464T-C transition (c.464T-C, NM_002140.4) in the HNRNPK gene, resulting in a leu155-to-pro (L155P) substitution at a highly conserved residue. Structural modeling showed that the mutation occurs in the first turn of helix alpha-1, suggesting that it affects a hydrophobic core packing involving the side chain of L155 and stability of helix alpha-1, thereby impairing the interaction of the protein with DNA or RNA. The variant was confirmed by Sanger sequencing and was not present in the ExAC, Exome Variant Server, or Human Genetic Variation databases or in an in-house database of 575 exomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 AU-KLINE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HNRNPK, GLU85LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554700678,
|
|
|
|
|
|
|
|
ClinVar: RCV000522148, RCV000627090, RCV001267488
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 unrelated patients with Au-Kline syndrome (AUKS; 616580), Choufani et al. (2022) identified a de novo heterozygous c.253G-A transition (c.253G-A, NM_002140.4) in exon 6 of the HNRNPK gene, resulting in a glu85-to-lys (E85K) substitution. In 3 patients who were tested, an intermediate AUKS-specific DNA methylation signature was identified in patient blood. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 AU-KLINE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
HNRNPK, IVS16, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003315468
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old Japanese boy, born of nonconsanguineous parents, with Okamoto syndrome (AUKS; 616580), Okamoto (2019) identified a de novo heterozygous splice site mutation in intron 16 of the HNRNPK gene. The mutation was found by Sanger sequencing of the HNRNPK gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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|
<div>
|
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 AU-KLINE SYNDROME</strong>
|
|
</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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|
HNRNPK, IVS6, +5, G-A
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<br />
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|
ClinVar: RCV003315469
|
|
|
|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Okamoto syndrome (AUKS; 616580), Maystadt et al. (2020) identified de novo heterozygosity for a c.257+5G-A transition (c.257+5G-A, NM_002140.4) in intron 6 of the HNRNPK gene, predicted to result in a frameshift and premature termination (Ile87TyrfsTer12). The mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing, was not present in the gnomAD database. rDNA analysis in blood from the patient demonstrated that the c.257+5G-A mutation resulted in use of an intronic cryptic splicing site and a transcript with retention of 49 intronic nucleotides. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
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|
</div>
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</div>
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|
<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 AU-KLINE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
HNRNPK, 1-BP DUP, 998A
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<br />
|
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|
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SNP: rs1554698681,
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ClinVar: RCV000599062
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|
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Au-Kline syndrome (AUKS; 616580), Dentici et al. (2018) identified a de novo heterozygous 1-bp duplication (c.998dupA) in the HNRNPK gene, resulting in a tyr333-to-ter (Y333X) substitution. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. mRNA analysis in patient leukocytes demonstrated lack of expression of the HNRNPK allele with the c.998dupA mutation, indicating that the mutation led to nonsense-mediated decay. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
|
<ol>
|
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<li>
|
|
<p class="mim-text-font">
|
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Au, P. Y. B., Goedhart, C., Ferguson, M., Breckpot, J., Devriendt, K., Wierenga, K., Fanning, E., Grange, D. K., Graham, G. E., Galarreta, C., Jones, M. C., Kini, U., Stewart, H., Parboosingh, J. S., Kline, A. D., Innes, A. M., Care for Rare Canada Consortium.
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<strong>Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.</strong>
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