3228 lines
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Entry
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- *612991 - ASXL TRANSCRIPTIONAL REGULATOR 2; ASXL2
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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">*612991</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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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<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/612991">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000143970;t=ENST00000435504" 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=55252" 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=612991" 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=ENSG00000143970;t=ENST00000435504" 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_001369346,NM_001369347,NM_018263" 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_018263" 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=612991" 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=10676&isoform_id=10676_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/ASXL2" 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/7023228,27695637,37998953,57999438,62822292,74712929,119621121,119621122,153792780,929654859,1607220055,1607220085" 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/Q76L83" 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=55252" 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=ENSG00000143970;t=ENST00000435504" 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=ASXL2" 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=ASXL2" 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+55252" 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/ASXL2" 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:55252" 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/55252" 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=chr2&hgg_gene=ENST00000435504.9&hgg_start=25733753&hgg_end=25878487&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:23805" 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:23805" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612991[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=612991[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/ASXL2/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/ENSG00000143970" 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=ASXL2" 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=ASXL2" 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=ASXL2" 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=ASXL2&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/PA134884863" 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:23805" 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/FBgn0261823.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:1922552" 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/ASXL2#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:1922552" 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/55252/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=55252" 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://zfin.org/ZDB-GENE-100412-1" 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:55252" 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=ASXL2&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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612991
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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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ASXL TRANSCRIPTIONAL REGULATOR 2; ASXL2
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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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ADDITIONAL SEX COMBS-LIKE 2<br />
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KIAA1685
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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=ASXL2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ASXL2</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/2/99?start=-3&limit=10&highlight=99">2p23.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:25733753-25878487&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'})">2:25,733,753-25,878,487</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/2/99?start=-3&limit=10&highlight=99">
|
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2p23.3
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Shashi-Pena syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617190"> 617190 </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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/612991" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/612991" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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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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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see <a href="/entry/159555">159555</a>) and polycomb (see <a href="/entry/610231">610231</a>) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (summary by <a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL2 gene in silico.</strong> Int. J. Oncol. 23: 845-850, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888926</a>]" pmid="12888926">Katoh and Katoh, 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated human hippocampus cDNA library, <a href="#4" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Hattori, A., Kondo, Y., Okumura, K., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes, XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 347-355, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214970</a>] [<a href="https://doi.org/10.1093/dnares/7.6.347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11214970">Nagase et al. (2000)</a> obtained a partial ASXL2 clone, which they designated KIAA1685. RT-PCR ELISA detected relatively low expression in all adult and fetal tissues and specific adult brain regions examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214970" 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 searching databases for sequences similar to ASXL1 (<a href="/entry/612990">612990</a>), followed by EST database analysis, <a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL2 gene in silico.</strong> Int. J. Oncol. 23: 845-850, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888926</a>]" pmid="12888926">Katoh and Katoh (2003)</a> obtained a full-length ASXL2 cDNA. The deduced 1,435-amino acid protein shares 29.8% identity with ASXL1. ASXL1 and ASXL2 share significant homology in their N-terminal and middle domains, which the authors designated the ASXN and ASXM domains, respectively, and both proteins have a C-terminal plant homeodomain (PHD). <a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL2 gene in silico.</strong> Int. J. Oncol. 23: 845-850, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888926</a>]" pmid="12888926">Katoh and Katoh (2003)</a> also identified a putative splice variant of mouse Asxl2, which encodes a protein with an in-frame internal deletion of about 50 amino acids compared with full-length human ASXL2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888926" 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="#6" class="mim-tip-reference" title="Ramocki, M. B., Dowling, J., Grinberg, I., Kimonis, V. E., Cardoso, C., Gross, A., Chung, J., Martin, C. L., Ledbetter, D. H., Dobyns, W. B., Millen, K. J. <strong>Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.</strong> Europ. J. Hum. Genet. 11: 527-534, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825074</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825074">Ramocki et al. (2003)</a> stated that in situ hybridization of mouse Asxl2 demonstrated ubiquitous expression in the central nervous system from embryonic day 9.5 to 15.5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825074" 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="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL2 gene in silico.</strong> Int. J. Oncol. 23: 845-850, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888926</a>]" pmid="12888926">Katoh and Katoh (2003)</a> determined that the ASXL2 gene contains 13 coding exons that span about 139 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using mouse and human cell lines, <a href="#5" class="mim-tip-reference" title="Park, U.-H., Yoon, S. K., Park, T., Kim, E.-J., Um, S.-J. <strong>Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor gamma.</strong> J. Biol. Chem. 286: 1354-1363, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21047783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21047783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21047783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.177816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21047783">Park et al. (2011)</a> showed that mouse Asxl1 and human ASXL2 interacted with PPAR-alpha (PPARA; <a href="/entry/170998">170998</a>) and PPAR-gamma (PPARG; <a href="/entry/601487">601487</a>) and played opposite roles in adipogenesis. Asxl1 suppressed transactivation activity of ligand-bound PPAR-gamma and blocked adipogenic differentiation in mouse 3T3-L1 cells, whereas ASXL2 promoted these activities. Mutation analysis revealed that the heterochromatin protein-1 (HP1; see <a href="/entry/604478">604478</a>)-binding domain of Asxl1 was required for its repressive activity. Without the HP1-binding domain, Asxl1 behaved like ASXL2 to promote PPAR-gamma activity and induce adipogenesis. In chromatin immunoprecipitation assays in 3T3-L1 cells, Asxl1 occupied the promoter of the endogenous PPAR-gamma target Ap2 (FABP4; <a href="/entry/600434">600434</a>) together with the inhibitory factors HP1-alpha (CBX5; <a href="/entry/604478">604478</a>) and lys9-methylated histone H3 (see <a href="/entry/602810">602810</a>), whereas ASXL2 occupied the Ap2 promoter together with the activating factors histone lysine N-methyltransferase MLL1 (<a href="/entry/159555">159555</a>) and lys9-acetylated and lys4-methylated H3 histones. Microarray analysis showed that Asxl1 repressed, whereas ASXL2 increased, the expression of a subset of adipogenic genes, most of which are PPAR-gamma targets. <a href="#5" class="mim-tip-reference" title="Park, U.-H., Yoon, S. K., Park, T., Kim, E.-J., Um, S.-J. <strong>Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor gamma.</strong> J. Biol. Chem. 286: 1354-1363, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21047783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21047783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21047783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M110.177816" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21047783">Park et al. (2011)</a> concluded that ASXL1 is a PPAR-gamma corepressor and that ASXK2 is a PPAR-gamma coactivator. They proposed that ASXL1 and ASXL2 fine-tune adipogenesis via differential regulation of PPAR-gamma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21047783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="Katoh, M., Katoh, M. <strong>Identification and characterization of ASXL2 gene in silico.</strong> Int. J. Oncol. 23: 845-850, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888926</a>]" pmid="12888926">Katoh and Katoh (2003)</a> mapped the ASXL2 gene to chromosome 2p23.3, where it lies between the DNMT3A (<a href="/entry/602769">602769</a>) and KIF3C (<a href="/entry/602845">602845</a>) genes. This region of chromosome 2p is paralogous with the DNMT3B (<a href="/entry/602900">602900</a>)-ASXL1-KIF3B (<a href="/entry/603754">603754</a>) locus on chromosome 20q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888926" 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 6 unrelated patients with Shashi-Pena syndrome (SHAPNS; <a href="/entry/617190">617190</a>), <a href="#7" class="mim-tip-reference" title="Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others. <strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong> Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27693232">Shashi et al. (2016)</a> identified 6 different de novo heterozygous truncating mutations in the ASXL2 gene (<a href="#0001">612991.0001</a>-<a href="#0006">612991.0006</a>). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Analysis of cells from 3 patients showed that the mutant transcripts were expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. The patients were ascertained from several large cohorts of patients with neurodevelopmental disorders including a total of 12,030 individuals: statistical analysis indicated that the probability of these 6 de novo truncating mutations occurring by chance in this group was small (1.47 x 10(-10)). Examination of the ExAC browser identified 6 different heterozygous putative loss-of-function ASXL2 variants, which is fewer than expected and suggests that ASXL2 is highly intolerant of such variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Baskind, H. A., Na, L., Ma, Q., Patel, M. P., Geenen, D. L., Wang, Q. T. <strong>Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx.</strong> PLoS One 4: e4750, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19270745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19270745</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19270745[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.pone.0004750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19270745">Baskind et al. (2009)</a> found that Asxl2-null mice had reduced body weight, skeletal and vertebral abnormalities, and cardiac dysfunction with congenital heart malformations, enlarged hearts, and premature death. Asxl2 was also ubiquitously expressed in the brain of mouse embryos. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19270745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Izawa, T., Rohatgi, N., Fukunaga, T., Wang, Q.-T., Silva, M. J., Gardner, M. J., McDaniel, M. L., Abumrad, N. A., Semenkovich, C. F., Teitelbaum, S. L., Zou, W. <strong>ASXL2 regulates glucose, lipid, and skeletal homeostasis.</strong> Cell Rep. 11: 1625-1637, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26051940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26051940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26051940[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.celrep.2015.05.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26051940">Izawa et al. (2015)</a> found that Asxl2 in mice regulates skeletal, lipid, and glucose homeostasis. Asxl2-null mice developed osteopetrosis, insulin resistance, glucose intolerance, and lipodystrophy. Cellular studies showed that Asxl2 interacted with Pparg (<a href="/entry/601487">601487</a>) and Rank (<a href="/entry/603499">603499</a>) to regulate downstream signaling pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26051940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="/allelicVariants/612991" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612991[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 SHASHI-PENA 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">rs886041065 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041065;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=rs886041065" 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=rs886041065" 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=RCV000258822" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258822" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258822</a>
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<p>In a patient (patient 1) with Shashi-Pena syndrome (SHAPNS; <a href="/entry/617190">617190</a>), <a href="#7" class="mim-tip-reference" title="Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others. <strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong> Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27693232">Shashi et al. (2016)</a> identified a de novo heterozygous 1-bp deletion (c.2424delC, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Thr809ProfsTer32). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Analysis of patient cells showed that the mutant transcript was expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 SHASHI-PENA 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">rs886041066 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041066;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=rs886041066" 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=rs886041066" 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=RCV000258833" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258833" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258833</a>
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<p>In a patient (patient 2) with Shashi-Pena syndrome (SHAPNS; <a href="/entry/617190">617190</a>), <a href="#7" class="mim-tip-reference" title="Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others. <strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong> Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27693232">Shashi et al. (2016)</a> identified a de novo heterozygous 1-bp duplication (c.2081dupG, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Gly696ArgfsTer11). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 SHASHI-PENA SYNDROME</strong>
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</h4>
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ASXL2, 4-BP DEL, 1225CCAA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886041067 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041067;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=rs886041067" 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=rs886041067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000258843" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258843" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258843</a>
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<p>In a patient (patient 3) with Shashi-Pena syndrome (SHAPNS; <a href="/entry/617190">617190</a>), <a href="#7" class="mim-tip-reference" title="Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others. <strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong> Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27693232">Shashi et al. (2016)</a> identified a de novo heterozygous 4-bp deletion (c.1225_1228delCCAA, NM_018263.4) in the second to last exon (exon 10) of the ASXL2 gene, resulting in a frameshift and premature termination (Pro409AsnfsTer13). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Analysis of patient cells showed that the mutant transcript was expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 SHASHI-PENA SYNDROME</strong>
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ASXL2, 1-BP DEL, 2472C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886041068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041068;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=rs886041068" 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=rs886041068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000258823" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258823" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258823</a>
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<p>In a patient (patient 4) with Shashi-Pena syndrome (SHAPNS; <a href="/entry/617190">617190</a>), <a href="#7" class="mim-tip-reference" title="Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others. <strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong> Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27693232">Shashi et al. (2016)</a> identified a de novo heterozygous 1-bp deletion (c.2472delC, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Ser825ValfsTer16). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Analysis of patient cells showed that the mutant transcript was expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 SHASHI-PENA SYNDROME</strong>
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ASXL2, 4-BP DEL, 2971GGAG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886041069 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041069;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=rs886041069" 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=rs886041069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000258835" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258835" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258835</a>
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<p>In a patient (patient 5) with Shashi-Pena syndrome (SHAPNS; <a href="/entry/617190">617190</a>), <a href="#7" class="mim-tip-reference" title="Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others. <strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong> Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27693232">Shashi et al. (2016)</a> identified a de novo heterozygous 4-bp deletion (c.2971_2974delGGAG, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Gly991ArgfsTer3). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 SHASHI-PENA SYNDROME</strong>
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<div style="float: left;">
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ASXL2, GLU430TER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs886041070 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886041070;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=rs886041070" 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=rs886041070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000258846" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000258846" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000258846</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (patient 6) with Shashi-Pena syndrome (SHAPNS; <a href="/entry/617190">617190</a>), <a href="#7" class="mim-tip-reference" title="Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others. <strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong> Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.08.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27693232">Shashi et al. (2016)</a> identified a de novo heterozygous c.1288G-T transversion (c.1288G-T, NM_018263.4) in the second to last exon (exon 10) of the ASXL2 gene, resulting in glu430-to-ter (E430X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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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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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Baskind2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Baskind, H. A., Na, L., Ma, Q., Patel, M. P., Geenen, D. L., Wang, Q. T.
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<strong>Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx.</strong>
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PLoS One 4: e4750, 2009. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19270745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19270745</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19270745[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=19270745" 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.pone.0004750" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Izawa2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Izawa, T., Rohatgi, N., Fukunaga, T., Wang, Q.-T., Silva, M. J., Gardner, M. J., McDaniel, M. L., Abumrad, N. A., Semenkovich, C. F., Teitelbaum, S. L., Zou, W.
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<strong>ASXL2 regulates glucose, lipid, and skeletal homeostasis.</strong>
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Cell Rep. 11: 1625-1637, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26051940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26051940</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26051940[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=26051940" 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.celrep.2015.05.019" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Katoh2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Katoh, M., Katoh, M.
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<strong>Identification and characterization of ASXL2 gene in silico.</strong>
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Int. J. Oncol. 23: 845-850, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888926</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Nagase2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Kikuno, R., Hattori, A., Kondo, Y., Okumura, K., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes, XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 347-355, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/7.6.347" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Park2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Park, U.-H., Yoon, S. K., Park, T., Kim, E.-J., Um, S.-J.
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<strong>Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor gamma.</strong>
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J. Biol. Chem. 286: 1354-1363, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21047783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21047783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21047783[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=21047783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M110.177816" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Ramocki2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramocki, M. B., Dowling, J., Grinberg, I., Kimonis, V. E., Cardoso, C., Gross, A., Chung, J., Martin, C. L., Ledbetter, D. H., Dobyns, W. B., Millen, K. J.
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<strong>Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.</strong>
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Europ. J. Hum. Genet. 11: 527-534, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825074" 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/sj.ejhg.5200995" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Shashi2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others.
|
|
<strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong>
|
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Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27693232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27693232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27693232" 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.2016.08.017" target="_blank">Full Text</a>]
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</p>
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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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</div>
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<div>
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<a id="contributors" 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="mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 2/25/2011
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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 class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 8/31/2009
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</span>
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<div>
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<a id="editHistory" 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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 01/08/2020
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</span>
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</div>
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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 : 01/25/2018<br>joanna : 11/23/2016<br>carol : 11/11/2016<br>ckniffin : 11/08/2016<br>mgross : 02/05/2013<br>terry : 3/16/2011<br>mgross : 3/14/2011<br>terry : 2/25/2011<br>wwang : 9/14/2009<br>mgross : 8/31/2009
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612991
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</span>
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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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ASXL TRANSCRIPTIONAL REGULATOR 2; ASXL2
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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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<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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ADDITIONAL SEX COMBS-LIKE 2<br />
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KIAA1685
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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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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ASXL2</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: 2p23.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:25,733,753-25,878,487 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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2p23.3
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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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Shashi-Pena 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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617190
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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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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see 159555) and polycomb (see 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (summary by Katoh and Katoh, 2003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated human hippocampus cDNA library, Nagase et al. (2000) obtained a partial ASXL2 clone, which they designated KIAA1685. RT-PCR ELISA detected relatively low expression in all adult and fetal tissues and specific adult brain regions examined. </p><p>By searching databases for sequences similar to ASXL1 (612990), followed by EST database analysis, Katoh and Katoh (2003) obtained a full-length ASXL2 cDNA. The deduced 1,435-amino acid protein shares 29.8% identity with ASXL1. ASXL1 and ASXL2 share significant homology in their N-terminal and middle domains, which the authors designated the ASXN and ASXM domains, respectively, and both proteins have a C-terminal plant homeodomain (PHD). Katoh and Katoh (2003) also identified a putative splice variant of mouse Asxl2, which encodes a protein with an in-frame internal deletion of about 50 amino acids compared with full-length human ASXL2. </p><p>Ramocki et al. (2003) stated that in situ hybridization of mouse Asxl2 demonstrated ubiquitous expression in the central nervous system from embryonic day 9.5 to 15.5. </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>Katoh and Katoh (2003) determined that the ASXL2 gene contains 13 coding exons that span about 139 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using mouse and human cell lines, Park et al. (2011) showed that mouse Asxl1 and human ASXL2 interacted with PPAR-alpha (PPARA; 170998) and PPAR-gamma (PPARG; 601487) and played opposite roles in adipogenesis. Asxl1 suppressed transactivation activity of ligand-bound PPAR-gamma and blocked adipogenic differentiation in mouse 3T3-L1 cells, whereas ASXL2 promoted these activities. Mutation analysis revealed that the heterochromatin protein-1 (HP1; see 604478)-binding domain of Asxl1 was required for its repressive activity. Without the HP1-binding domain, Asxl1 behaved like ASXL2 to promote PPAR-gamma activity and induce adipogenesis. In chromatin immunoprecipitation assays in 3T3-L1 cells, Asxl1 occupied the promoter of the endogenous PPAR-gamma target Ap2 (FABP4; 600434) together with the inhibitory factors HP1-alpha (CBX5; 604478) and lys9-methylated histone H3 (see 602810), whereas ASXL2 occupied the Ap2 promoter together with the activating factors histone lysine N-methyltransferase MLL1 (159555) and lys9-acetylated and lys4-methylated H3 histones. Microarray analysis showed that Asxl1 repressed, whereas ASXL2 increased, the expression of a subset of adipogenic genes, most of which are PPAR-gamma targets. Park et al. (2011) concluded that ASXL1 is a PPAR-gamma corepressor and that ASXK2 is a PPAR-gamma coactivator. They proposed that ASXL1 and ASXL2 fine-tune adipogenesis via differential regulation of PPAR-gamma. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Katoh and Katoh (2003) mapped the ASXL2 gene to chromosome 2p23.3, where it lies between the DNMT3A (602769) and KIF3C (602845) genes. This region of chromosome 2p is paralogous with the DNMT3B (602900)-ASXL1-KIF3B (603754) locus on chromosome 20q. </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 6 unrelated patients with Shashi-Pena syndrome (SHAPNS; 617190), Shashi et al. (2016) identified 6 different de novo heterozygous truncating mutations in the ASXL2 gene (612991.0001-612991.0006). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Analysis of cells from 3 patients showed that the mutant transcripts were expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. The patients were ascertained from several large cohorts of patients with neurodevelopmental disorders including a total of 12,030 individuals: statistical analysis indicated that the probability of these 6 de novo truncating mutations occurring by chance in this group was small (1.47 x 10(-10)). Examination of the ExAC browser identified 6 different heterozygous putative loss-of-function ASXL2 variants, which is fewer than expected and suggests that ASXL2 is highly intolerant of such variants. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Baskind et al. (2009) found that Asxl2-null mice had reduced body weight, skeletal and vertebral abnormalities, and cardiac dysfunction with congenital heart malformations, enlarged hearts, and premature death. Asxl2 was also ubiquitously expressed in the brain of mouse embryos. </p><p>Izawa et al. (2015) found that Asxl2 in mice regulates skeletal, lipid, and glucose homeostasis. Asxl2-null mice developed osteopetrosis, insulin resistance, glucose intolerance, and lipodystrophy. Cellular studies showed that Asxl2 interacted with Pparg (601487) and Rank (603499) to regulate downstream signaling pathways. </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>6 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 SHASHI-PENA 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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ASXL2, 1-BP DEL, 2424C
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<br />
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SNP: rs886041065,
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ClinVar: RCV000258822
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In a patient (patient 1) with Shashi-Pena syndrome (SHAPNS; 617190), Shashi et al. (2016) identified a de novo heterozygous 1-bp deletion (c.2424delC, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Thr809ProfsTer32). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Analysis of patient cells showed that the mutant transcript was expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 SHASHI-PENA 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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ASXL2, 1-BP DUP, 2081G
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<br />
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SNP: rs886041066,
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ClinVar: RCV000258833
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient (patient 2) with Shashi-Pena syndrome (SHAPNS; 617190), Shashi et al. (2016) identified a de novo heterozygous 1-bp duplication (c.2081dupG, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Gly696ArgfsTer11). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 SHASHI-PENA SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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ASXL2, 4-BP DEL, 1225CCAA
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<br />
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SNP: rs886041067,
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ClinVar: RCV000258843
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient 3) with Shashi-Pena syndrome (SHAPNS; 617190), Shashi et al. (2016) identified a de novo heterozygous 4-bp deletion (c.1225_1228delCCAA, NM_018263.4) in the second to last exon (exon 10) of the ASXL2 gene, resulting in a frameshift and premature termination (Pro409AsnfsTer13). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Analysis of patient cells showed that the mutant transcript was expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SHASHI-PENA SYNDROME</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASXL2, 1-BP DEL, 2472C
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<br />
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SNP: rs886041068,
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ClinVar: RCV000258823
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient 4) with Shashi-Pena syndrome (SHAPNS; 617190), Shashi et al. (2016) identified a de novo heterozygous 1-bp deletion (c.2472delC, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Ser825ValfsTer16). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Analysis of patient cells showed that the mutant transcript was expressed and not subject to nonsense-mediated mRNA decay, providing support for a dominant-negative effect rather than haploinsufficiency. Additional functional studies were not performed. </p>
|
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</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SHASHI-PENA 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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ASXL2, 4-BP DEL, 2971GGAG
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<br />
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SNP: rs886041069,
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ClinVar: RCV000258835
|
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</span>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient (patient 5) with Shashi-Pena syndrome (SHAPNS; 617190), Shashi et al. (2016) identified a de novo heterozygous 4-bp deletion (c.2971_2974delGGAG, NM_018263.4) in the last exon (exon 12) of the ASXL2 gene, resulting in a frameshift and premature termination (Gly991ArgfsTer3). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 SHASHI-PENA 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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ASXL2, GLU430TER
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<br />
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SNP: rs886041070,
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ClinVar: RCV000258846
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient (patient 6) with Shashi-Pena syndrome (SHAPNS; 617190), Shashi et al. (2016) identified a de novo heterozygous c.1288G-T transversion (c.1288G-T, NM_018263.4) in the second to last exon (exon 10) of the ASXL2 gene, resulting in glu430-to-ter (E430X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 138), 1000 Genomes Project, Exome Variant Server, and ExAC databases. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
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</span>
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
|
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<li>
|
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<p class="mim-text-font">
|
|
Baskind, H. A., Na, L., Ma, Q., Patel, M. P., Geenen, D. L., Wang, Q. T.
|
|
<strong>Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx.</strong>
|
|
PLoS One 4: e4750, 2009. Note: Electronic Article.
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[PubMed: 19270745]
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[Full Text: https://doi.org/10.1371/journal.pone.0004750]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Izawa, T., Rohatgi, N., Fukunaga, T., Wang, Q.-T., Silva, M. J., Gardner, M. J., McDaniel, M. L., Abumrad, N. A., Semenkovich, C. F., Teitelbaum, S. L., Zou, W.
|
|
<strong>ASXL2 regulates glucose, lipid, and skeletal homeostasis.</strong>
|
|
Cell Rep. 11: 1625-1637, 2015.
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[PubMed: 26051940]
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[Full Text: https://doi.org/10.1016/j.celrep.2015.05.019]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Katoh, M., Katoh, M.
|
|
<strong>Identification and characterization of ASXL2 gene in silico.</strong>
|
|
Int. J. Oncol. 23: 845-850, 2003.
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[PubMed: 12888926]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Nagase, T., Kikuno, R., Hattori, A., Kondo, Y., Okumura, K., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes, XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 7: 347-355, 2000.
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[PubMed: 11214970]
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[Full Text: https://doi.org/10.1093/dnares/7.6.347]
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Park, U.-H., Yoon, S. K., Park, T., Kim, E.-J., Um, S.-J.
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<strong>Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor gamma.</strong>
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J. Biol. Chem. 286: 1354-1363, 2011.
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[PubMed: 21047783]
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[Full Text: https://doi.org/10.1074/jbc.M110.177816]
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Ramocki, M. B., Dowling, J., Grinberg, I., Kimonis, V. E., Cardoso, C., Gross, A., Chung, J., Martin, C. L., Ledbetter, D. H., Dobyns, W. B., Millen, K. J.
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<strong>Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.</strong>
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Europ. J. Hum. Genet. 11: 527-534, 2003.
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[PubMed: 12825074]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200995]
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Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., and 23 others.
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<strong>De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.</strong>
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Am. J. Hum. Genet. 99: 991-999, 2016. Note: Erratum: Am. J. Hum. Genet. 100: 179 only, 2017.
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[PubMed: 27693232]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.08.017]
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Patricia A. Hartz - updated : 2/25/2011
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Patricia A. Hartz : 8/31/2009
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