2934 lines
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- *603026 - PLAG1 ZINC FINGER PROTEIN; PLAG1
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- OMIM
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<p>
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<span class="h4">*603026</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603026">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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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 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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<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=ENSG00000181690;t=ENST00000316981" 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=5324" 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=603026" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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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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</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=ENSG00000181690;t=ENST00000316981" 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_001114634,NM_001114635,NM_002655,XM_017013576,XM_047421866,XM_047421867" 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_002655" 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=603026" 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=04321&isoform_id=04321_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/PLAG1" 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/1839160,4774167,49902223,49902412,62087842,74757442,119607180,119607181,159000007,167857794,167857796,167857798,189053908,194384648,1034660704,2217372250,2217372252,2462619813,2462619815,2462619817" 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/Q6DJT9" 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=5324" 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=ENSG00000181690;t=ENST00000316981" 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=PLAG1" 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=PLAG1" 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+5324" 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/PLAG1" 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:5324" 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/5324" 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=chr8&hgg_gene=ENST00000316981.8&hgg_start=56160909&hgg_end=56211273&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603026[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603026[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://gnomad.broadinstitute.org/gene/ENSG00000181690" 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=PLAG1" 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=PLAG1" 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=PLAG1" 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=PLAG1&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/PA33378" 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:9045" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1891916" 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/PLAG1#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:1891916" 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/5324/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002405/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=5324" 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-060302-2" 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://reactome.org/content/query?q=PLAG1&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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603026
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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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PLAG1 ZINC FINGER PROTEIN; PLAG1
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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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PLEOMORPHIC ADENOMA GENE 1
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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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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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PLAG1/CTNNB1 FUSION GENE, INCLUDED
|
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</span>
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</div>
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<div>
|
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<span class="h4 mim-font">
|
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PLAG1/TCEA1 FUSION GENE, INCLUDED<br />
|
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PLAG1/CHCHD7 FUSION GENE, INCLUDED
|
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</span>
|
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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=PLAG1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PLAG1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/8/280?start=-3&limit=10&highlight=280">8q12.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:56160909-56211273&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'})">8:56,160,909-56,211,273</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=181030,618907" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
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</span>
|
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</th>
|
|
<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/280?start=-3&limit=10&highlight=280">
|
|
8q12.1
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Adenomas, salivary gland pleomorphic, somatic
|
|
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|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/181030"> 181030 </a>
|
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|
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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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</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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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Silver-Russell syndrome 4
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/618907"> 618907 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603026" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603026" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
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<p>PLAG1 is a transcription factor that is broadly expressed during fetal development. It regulates several growth factors, including IGF2 (<a href="/entry/147470">147470</a>) (summary by <a href="#5" class="mim-tip-reference" title="Karim, L., Takeda, H., Lin, L., Druet, T., Arias, J. A. C., Baurain, D., Cambisano, N., Davis, S. R., Farnir, F., Grisart, B., Harris, B. L., Keehan, M. D., Littlejohn, M. D., Spelman, R. J., Georges, M., Coppieters, W. <strong>Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.</strong> Nature Genet. 43: 405-413, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21516082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21516082</a>] [<a href="https://doi.org/10.1038/ng.814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21516082">Karim et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21516082" 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 searching sequence databases with sequence tagged sites (STSs) located within a 300-kb region on chromosome 8 associated with recurrent translocation breakpoints in pleomorphic adenomas (see <a href="/entry/181030">181030</a> and CYTOGENETICS), <a href="#7" class="mim-tip-reference" title="Kas, K., Voz, M. L., Roijer, E., Astrom, A.-K., Meyen, E., Stenman, G., Van de Ven, W. J. M. <strong>Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.</strong> Nature Genet. 15: 170-174, 1997. Note: Erratum: Nature Genet. 15: 411 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020842</a>] [<a href="https://doi.org/10.1038/ng0297-170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020842">Kas et al. (1997)</a> identified an EST with sequence identity to 1 of the STSs. Northern blot analysis using this EST detected a 7.5-kb transcript representing pleomorphic adenoma gene-1 (PLAG1). <a href="#7" class="mim-tip-reference" title="Kas, K., Voz, M. L., Roijer, E., Astrom, A.-K., Meyen, E., Stenman, G., Van de Ven, W. J. M. <strong>Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.</strong> Nature Genet. 15: 170-174, 1997. Note: Erratum: Nature Genet. 15: 411 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020842</a>] [<a href="https://doi.org/10.1038/ng0297-170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020842">Kas et al. (1997)</a> detected the 7.5-kb PLAG1 transcript in normal human fetal lung, fetal liver, and fetal kidney, but not in the corresponding adult tissues, adult salivary gland, or fetal brain. The authors cloned human fetal kidney PLAG1 cDNAs. The deduced PLAG1 protein has 2 potential nuclear localization signals in the N-terminal region, 7 zinc finger domains, and a serine-rich C terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9020842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using X-gal staining, <a href="#4" class="mim-tip-reference" title="Juma, A. R., Grommen, S. V. H., O'Bryan, M. K., O'Connor, A. E., Merriner, D. J., Hall, N. E., Doyle, S. R., Damdimopoulou, P. E., Barriga, D., Hart, A. H., Van de Ven, W. J. M., De Groef, B. <strong>PLAG1 deficiency impairs spermatogenesis and sperm motility in mice.</strong> Sci. Rep. 7: 5317, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28706261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28706261</a>] [<a href="https://doi.org/10.1038/s41598-017-05676-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28706261">Juma et al. (2017)</a> showed that Plag1 was expressed in multiple cell types in mouse seminiferous tubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28706261" 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="#7" class="mim-tip-reference" title="Kas, K., Voz, M. L., Roijer, E., Astrom, A.-K., Meyen, E., Stenman, G., Van de Ven, W. J. M. <strong>Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.</strong> Nature Genet. 15: 170-174, 1997. Note: Erratum: Nature Genet. 15: 411 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020842</a>] [<a href="https://doi.org/10.1038/ng0297-170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020842">Kas et al. (1997)</a> determined that the PLAG1 gene contains 5 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9020842" 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="#7" class="mim-tip-reference" title="Kas, K., Voz, M. L., Roijer, E., Astrom, A.-K., Meyen, E., Stenman, G., Van de Ven, W. J. M. <strong>Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.</strong> Nature Genet. 15: 170-174, 1997. Note: Erratum: Nature Genet. 15: 411 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020842</a>] [<a href="https://doi.org/10.1038/ng0297-170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020842">Kas et al. (1997)</a> mapped the PLAG1 gene to chromosome 8q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9020842" 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>Pleomorphic adenomas are benign epithelial tumors originating from the major and minor salivary glands (see <a href="/entry/181030">181030</a>). They are characterized by recurrent chromosome translocations, the most common of which involve chromosome 8, with consistent breakpoints at band q12. <a href="#6" class="mim-tip-reference" title="Kas, K., Roijer, E., Voz, M., Meyen, E., Stenman, G., Van de Ven, W. J. M. <strong>A 2-Mb YAC contig and physical map covering the chromosome 8q12 breakpoint cluster region in pleomorphic adenomas of the salivary glands.</strong> Genomics 43: 349-358, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9268638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9268638</a>] [<a href="https://doi.org/10.1006/geno.1997.4819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9268638">Kas et al. (1997)</a> described the construction of 2 nonoverlapping YAC contigs covering about 75% of human chromosome band 8q12, which spans approximately 9 Mb of genomic DNA and includes multiple genes and expressed sequence tags (ESTs). Using FISH, the authors determined that the majority of pleomorphic adenoma 8q12 breakpoints clustered within a 2-Mb contig that was mapped to the centromeric region of 8q12 and that was covered by 34 overlapping YAC clones, and tagged by 31 markers with an average spacing of 65 kb. Nine of 11 primary adenomas with 8q12 abnormalities had breakpoints mapping within a 300-kb interval. By searching sequence databases with sequence tagged sites (STSs) located within a 300-kb region, <a href="#7" class="mim-tip-reference" title="Kas, K., Voz, M. L., Roijer, E., Astrom, A.-K., Meyen, E., Stenman, G., Van de Ven, W. J. M. <strong>Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.</strong> Nature Genet. 15: 170-174, 1997. Note: Erratum: Nature Genet. 15: 411 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020842</a>] [<a href="https://doi.org/10.1038/ng0297-170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020842">Kas et al. (1997)</a> identified an EST with sequence identity to 1 of the STSs. This EST corresponds to the PLAG1 gene. Southern blot analysis of DNA from pleomorphic adenomas with t(3;8) detected rearrangements in the 5-prime noncoding region of the PLAG1 gene. Using 5-prime RACE or RT-PCR, the authors generated hybrid transcripts consisting of PLAG1 and beta-1-catenin (CTNNB1; <a href="/entry/116806">116806</a>) from every primary tumor analyzed. Northern blot analysis of 3 pleomorphic adenomas with t(3;8) and 1 adenoma with a variant t(8;15) revealed that PLAG1 expression was activated by the translocations in all 4 tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9268638+9020842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Astrom, A.-K., Voz, M. L., Kas, K., Roijer, E., Wedell, B., Mandahl, N., Van de Ven, W., Mark, J., Stenman, G. <strong>Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene.</strong> Cancer Res. 59: 918-923, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029085</a>]" pmid="10029085">Astrom et al. (1999)</a> found overexpression of PLAG1 in 23 of 47 primary benign and malignant pleomorphic adenomas of the salivary glands. In 5 adenomas with a normal karyotype, fusion transcripts were found in 3; PLAG1 and CTNNB1 were fused in 1 case, and in 2 others PLAG1 was fused with the gene encoding transcription elongation factor SII (TCEA1;<a href="/entry/601425">601425</a>). The fusions occurred in the 5-prime noncoding region of PLAG1, leading to exchange of regulatory control elements and, as a consequence, activation of PLAG1 gene expression. Because all of the cases had grossly normal karyotypes, the rearrangements must result from cryptic rearrangements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029085" 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="Asp, J., Persson, F., Kost-Alimova, M., Stenman, G. <strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong> Genes Chromosomes Cancer 45: 820-828, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16736500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16736500</a>] [<a href="https://doi.org/10.1002/gcc.20346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16736500">Asp et al. (2006)</a> carried out RT-PCR analysis of 27 cytogenetically characterized pleomorphic salivary gland adenomas containing chromosome 8q12 translocations that lacked PLAG1/CTNNB1 gene fusions. They detected chimeric transcripts of exon 1 of the CHCHD7 gene (<a href="/entry/611238">611238</a>) fused to either exons 3 and 4 of PLAG1 or to PLAG1 exons 2 to 4 in 3 tumors: a tumor containing a t(8:15)(q12;q14) translocation, a second containing at t(6;8)(p22-21.3;q13) translocation, and a third tumor with a normal karyotype. Using immunohistochemistry of tumor tissues containing CHCHD7/PLAG1 fusions, <a href="#2" class="mim-tip-reference" title="Asp, J., Persson, F., Kost-Alimova, M., Stenman, G. <strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong> Genes Chromosomes Cancer 45: 820-828, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16736500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16736500</a>] [<a href="https://doi.org/10.1002/gcc.20346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16736500">Asp et al. (2006)</a> detected PLAG1 protein and suggested that the CHCHD7/PLAG1 gene fusion upregulates PLAG1 protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16736500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a mother and 2 daughters and an unrelated patient with Silver-Russell syndrome (SRS4; <a href="/entry/618907">618907</a>), <a href="#1" class="mim-tip-reference" title="Abi Habib, W., Brioude, F., Edouard, T., Bennett, J. T., Lienhardt-Roussie, A., Tixier, F., Salem, J., Yuen, T., Azzi, S., Le Bouc, Y., Harbison, M. D., Netchine, I. <strong>Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.</strong> Genet. Med. 20: 250-258, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28796236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28796236</a>] [<a href="https://doi.org/10.1038/gim.2017.105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28796236">Abi Habib et al. (2018)</a> identified heterozygosity for different 1-bp deletions in the PLAG1 gene (<a href="#0001">603026.0001</a> and <a href="#0002">603026.0002</a>). Experiments in Hep3b cells demonstrated that PLAG1 positively regulates expression of the IGF2 (<a href="/entry/147470">147470</a>) promoter P3, both independently and via an HMGA2 (<a href="/entry/600698">600698</a>)-PLAG1-IGF2 pathway. The authors noted that disruption of any gene in the pathway results in a decrease in IGF2 expression and produces an SRS phenotype similar to that of patients carrying 11p15.5 epigenetic defects (see SRS1; <a href="/entry/180860">180860</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28796236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Karim, L., Takeda, H., Lin, L., Druet, T., Arias, J. A. C., Baurain, D., Cambisano, N., Davis, S. R., Farnir, F., Grisart, B., Harris, B. L., Keehan, M. D., Littlejohn, M. D., Spelman, R. J., Georges, M., Coppieters, W. <strong>Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.</strong> Nature Genet. 43: 405-413, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21516082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21516082</a>] [<a href="https://doi.org/10.1038/ng.814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21516082">Karim et al. (2011)</a> mapped a quantitative trait locus (QTL) with a major effect on bovine stature to an approximately 780-bp interval on chromosome 14. They identified 8 candidate quantitative trait nucleotides (QTNs) within the QTL and showed that these QTNs influenced fetal expression of 7 of the 9 genes within the QTL. Two of the QTNs are located within the approximately 500-bp intergenic region between the Plag1 and Chchd7 genes, which are oriented in a head-to-head fashion. The intergenic region is phylogenetically conserved and functions as a bidirectional promoter. Reporter gene assays and EMSA showed that these 2 QTNs influenced bidirectional promoter strength and affected binding of nuclear factors. The presence of a naturally occurring null allele excluded Chchd7 as the causative gene. <a href="#5" class="mim-tip-reference" title="Karim, L., Takeda, H., Lin, L., Druet, T., Arias, J. A. C., Baurain, D., Cambisano, N., Davis, S. R., Farnir, F., Grisart, B., Harris, B. L., Keehan, M. D., Littlejohn, M. D., Spelman, R. J., Georges, M., Coppieters, W. <strong>Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.</strong> Nature Genet. 43: 405-413, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21516082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21516082</a>] [<a href="https://doi.org/10.1038/ng.814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21516082">Karim et al. (2011)</a> noted that Plag1 regulates several growth factors, including Igf2 (<a href="/entry/147470">147470</a>), a key regulator of body size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21516082" 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="#4" class="mim-tip-reference" title="Juma, A. R., Grommen, S. V. H., O'Bryan, M. K., O'Connor, A. E., Merriner, D. J., Hall, N. E., Doyle, S. R., Damdimopoulou, P. E., Barriga, D., Hart, A. H., Van de Ven, W. J. M., De Groef, B. <strong>PLAG1 deficiency impairs spermatogenesis and sperm motility in mice.</strong> Sci. Rep. 7: 5317, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28706261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28706261</a>] [<a href="https://doi.org/10.1038/s41598-017-05676-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28706261">Juma et al. (2017)</a> noted that Plag1 deficiency results in reduced fertility in male and female mice. Using Plag1 -/- and +/- mice, they showed that loss of Plag1 expression led to reduced expression of genes involved in spermatogenesis and testosterone synthesis, as well as upregulation of genes involved in immune responses and epididymis-specific functions. Histologic and TUNEL analyses revealed that loss of Plag1 resulted in defects in testicular appearance and apoptotic cells. Plag1 deficiency also led to reduced testis and seminal vesicle weight, daily sperm production, and sperm motility. <a href="#4" class="mim-tip-reference" title="Juma, A. R., Grommen, S. V. H., O'Bryan, M. K., O'Connor, A. E., Merriner, D. J., Hall, N. E., Doyle, S. R., Damdimopoulou, P. E., Barriga, D., Hart, A. H., Van de Ven, W. J. M., De Groef, B. <strong>PLAG1 deficiency impairs spermatogenesis and sperm motility in mice.</strong> Sci. Rep. 7: 5317, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28706261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28706261</a>] [<a href="https://doi.org/10.1038/s41598-017-05676-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28706261">Juma et al. (2017)</a> concluded that PLAG1 plays important roles in testicular function and sperm motility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28706261" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>2 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603026[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1114167317 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1114167317;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=rs1114167317" 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=rs1114167317" 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=RCV000490859 OR RCV001174521" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000490859, RCV001174521" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000490859...</a>
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<p>In a mother and 2 daughters with Silver-Russell syndrome (SRS4; <a href="/entry/618907">618907</a>), <a href="#1" class="mim-tip-reference" title="Abi Habib, W., Brioude, F., Edouard, T., Bennett, J. T., Lienhardt-Roussie, A., Tixier, F., Salem, J., Yuen, T., Azzi, S., Le Bouc, Y., Harbison, M. D., Netchine, I. <strong>Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.</strong> Genet. Med. 20: 250-258, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28796236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28796236</a>] [<a href="https://doi.org/10.1038/gim.2017.105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28796236">Abi Habib et al. (2018)</a> identified heterozygosity for a 1-bp deletion (c.439del, NM_002655.2) in exon 5 of the PLAG1 gene, causing a frameshift predicted to result in a premature termination codon (Ser147ValfsTer82). The mutation was not present in the unaffected father, in polymorphism databases, or the ExAC database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28796236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1114167318 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1114167318;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=rs1114167318" 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=rs1114167318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a female patient with Silver-Russell syndrome (SRS4; <a href="/entry/618907">618907</a>), <a href="#1" class="mim-tip-reference" title="Abi Habib, W., Brioude, F., Edouard, T., Bennett, J. T., Lienhardt-Roussie, A., Tixier, F., Salem, J., Yuen, T., Azzi, S., Le Bouc, Y., Harbison, M. D., Netchine, I. <strong>Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.</strong> Genet. Med. 20: 250-258, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28796236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28796236</a>] [<a href="https://doi.org/10.1038/gim.2017.105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28796236">Abi Habib et al. (2018)</a> identified heterozygosity for a de novo 1-bp deletion (c.1363del, NM_002655.2) in the PLAG1 gene, causing a frameshift predicted to result in a premature termination codon (Gln455SerfsTer16). The mutation was not found in unaffected relatives, including her twin brother, an older brother, or her parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28796236" 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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Abi Habib, W., Brioude, F., Edouard, T., Bennett, J. T., Lienhardt-Roussie, A., Tixier, F., Salem, J., Yuen, T., Azzi, S., Le Bouc, Y., Harbison, M. D., Netchine, I.
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<strong>Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.</strong>
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Genet. Med. 20: 250-258, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28796236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28796236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28796236" 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/gim.2017.105" target="_blank">Full Text</a>]
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Asp, J., Persson, F., Kost-Alimova, M., Stenman, G.
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<strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong>
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Genes Chromosomes Cancer 45: 820-828, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16736500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16736500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16736500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/gcc.20346" target="_blank">Full Text</a>]
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Astrom, A.-K., Voz, M. L., Kas, K., Roijer, E., Wedell, B., Mandahl, N., Van de Ven, W., Mark, J., Stenman, G.
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<strong>Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene.</strong>
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Cancer Res. 59: 918-923, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Juma, A. R., Grommen, S. V. H., O'Bryan, M. K., O'Connor, A. E., Merriner, D. J., Hall, N. E., Doyle, S. R., Damdimopoulou, P. E., Barriga, D., Hart, A. H., Van de Ven, W. J. M., De Groef, B.
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<strong>PLAG1 deficiency impairs spermatogenesis and sperm motility in mice.</strong>
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Sci. Rep. 7: 5317, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28706261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28706261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28706261" 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/s41598-017-05676-4" target="_blank">Full Text</a>]
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Karim, L., Takeda, H., Lin, L., Druet, T., Arias, J. A. C., Baurain, D., Cambisano, N., Davis, S. R., Farnir, F., Grisart, B., Harris, B. L., Keehan, M. D., Littlejohn, M. D., Spelman, R. J., Georges, M., Coppieters, W.
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<strong>Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.</strong>
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Nature Genet. 43: 405-413, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21516082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21516082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21516082" 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/ng.814" target="_blank">Full Text</a>]
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<a id="Kas1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kas, K., Roijer, E., Voz, M., Meyen, E., Stenman, G., Van de Ven, W. J. M.
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<strong>A 2-Mb YAC contig and physical map covering the chromosome 8q12 breakpoint cluster region in pleomorphic adenomas of the salivary glands.</strong>
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Genomics 43: 349-358, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9268638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9268638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9268638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4819" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Kas1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kas, K., Voz, M. L., Roijer, E., Astrom, A.-K., Meyen, E., Stenman, G., Van de Ven, W. J. M.
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<strong>Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.</strong>
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Nature Genet. 15: 170-174, 1997. Note: Erratum: Nature Genet. 15: 411 only, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9020842" 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/ng0297-170" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 06/12/2020
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 05/20/2020<br>Paul J. Converse - updated : 08/16/2017<br>Patricia A. Hartz - updated : 5/13/2011<br>Dorothy S. Reilly - updated : 7/23/2007<br>Victor A. McKusick - updated : 4/16/1999
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sheryl A. Jankowski : 9/9/1998
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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 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 : 06/15/2020
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</span>
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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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alopez : 06/12/2020<br>mgross : 05/20/2020<br>mgross : 08/16/2017<br>mgross : 08/16/2017<br>terry : 04/04/2013<br>mgross : 5/13/2011<br>terry : 5/13/2011<br>wwang : 7/23/2007<br>carol : 4/19/1999<br>terry : 4/16/1999<br>psherman : 9/14/1998<br>psherman : 9/11/1998<br>psherman : 9/11/1998
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603026
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PLAG1 ZINC FINGER PROTEIN; PLAG1
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PLEOMORPHIC ADENOMA GENE 1
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</span>
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</h4>
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</div>
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<br />
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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PLAG1/CTNNB1 FUSION GENE, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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PLAG1/TCEA1 FUSION GENE, INCLUDED<br />
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PLAG1/CHCHD7 FUSION GENE, INCLUDED
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</span>
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<div>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PLAG1</em></strong>
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</span>
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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: 8q12.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:56,160,909-56,211,273 </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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<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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Location
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Phenotype
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<th>
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Phenotype <br /> MIM number
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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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<td rowspan="2">
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<span class="mim-font">
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8q12.1
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<td>
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<span class="mim-font">
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Adenomas, salivary gland pleomorphic, somatic
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</td>
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<td>
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<span class="mim-font">
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181030
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<span class="mim-font">
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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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<span class="mim-font">
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Silver-Russell syndrome 4
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</td>
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<td>
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<span class="mim-font">
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618907
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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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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</div>
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<span class="mim-text-font">
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<p>PLAG1 is a transcription factor that is broadly expressed during fetal development. It regulates several growth factors, including IGF2 (147470) (summary by Karim et al., 2011). </p>
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</span>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By searching sequence databases with sequence tagged sites (STSs) located within a 300-kb region on chromosome 8 associated with recurrent translocation breakpoints in pleomorphic adenomas (see 181030 and CYTOGENETICS), Kas et al. (1997) identified an EST with sequence identity to 1 of the STSs. Northern blot analysis using this EST detected a 7.5-kb transcript representing pleomorphic adenoma gene-1 (PLAG1). Kas et al. (1997) detected the 7.5-kb PLAG1 transcript in normal human fetal lung, fetal liver, and fetal kidney, but not in the corresponding adult tissues, adult salivary gland, or fetal brain. The authors cloned human fetal kidney PLAG1 cDNAs. The deduced PLAG1 protein has 2 potential nuclear localization signals in the N-terminal region, 7 zinc finger domains, and a serine-rich C terminus. </p><p>Using X-gal staining, Juma et al. (2017) showed that Plag1 was expressed in multiple cell types in mouse seminiferous tubules. </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>Kas et al. (1997) determined that the PLAG1 gene contains 5 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kas et al. (1997) mapped the PLAG1 gene to chromosome 8q12. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Pleomorphic adenomas are benign epithelial tumors originating from the major and minor salivary glands (see 181030). They are characterized by recurrent chromosome translocations, the most common of which involve chromosome 8, with consistent breakpoints at band q12. Kas et al. (1997) described the construction of 2 nonoverlapping YAC contigs covering about 75% of human chromosome band 8q12, which spans approximately 9 Mb of genomic DNA and includes multiple genes and expressed sequence tags (ESTs). Using FISH, the authors determined that the majority of pleomorphic adenoma 8q12 breakpoints clustered within a 2-Mb contig that was mapped to the centromeric region of 8q12 and that was covered by 34 overlapping YAC clones, and tagged by 31 markers with an average spacing of 65 kb. Nine of 11 primary adenomas with 8q12 abnormalities had breakpoints mapping within a 300-kb interval. By searching sequence databases with sequence tagged sites (STSs) located within a 300-kb region, Kas et al. (1997) identified an EST with sequence identity to 1 of the STSs. This EST corresponds to the PLAG1 gene. Southern blot analysis of DNA from pleomorphic adenomas with t(3;8) detected rearrangements in the 5-prime noncoding region of the PLAG1 gene. Using 5-prime RACE or RT-PCR, the authors generated hybrid transcripts consisting of PLAG1 and beta-1-catenin (CTNNB1; 116806) from every primary tumor analyzed. Northern blot analysis of 3 pleomorphic adenomas with t(3;8) and 1 adenoma with a variant t(8;15) revealed that PLAG1 expression was activated by the translocations in all 4 tumors. </p><p>Astrom et al. (1999) found overexpression of PLAG1 in 23 of 47 primary benign and malignant pleomorphic adenomas of the salivary glands. In 5 adenomas with a normal karyotype, fusion transcripts were found in 3; PLAG1 and CTNNB1 were fused in 1 case, and in 2 others PLAG1 was fused with the gene encoding transcription elongation factor SII (TCEA1;601425). The fusions occurred in the 5-prime noncoding region of PLAG1, leading to exchange of regulatory control elements and, as a consequence, activation of PLAG1 gene expression. Because all of the cases had grossly normal karyotypes, the rearrangements must result from cryptic rearrangements. </p><p>Asp et al. (2006) carried out RT-PCR analysis of 27 cytogenetically characterized pleomorphic salivary gland adenomas containing chromosome 8q12 translocations that lacked PLAG1/CTNNB1 gene fusions. They detected chimeric transcripts of exon 1 of the CHCHD7 gene (611238) fused to either exons 3 and 4 of PLAG1 or to PLAG1 exons 2 to 4 in 3 tumors: a tumor containing a t(8:15)(q12;q14) translocation, a second containing at t(6;8)(p22-21.3;q13) translocation, and a third tumor with a normal karyotype. Using immunohistochemistry of tumor tissues containing CHCHD7/PLAG1 fusions, Asp et al. (2006) detected PLAG1 protein and suggested that the CHCHD7/PLAG1 gene fusion upregulates PLAG1 protein expression. </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 a mother and 2 daughters and an unrelated patient with Silver-Russell syndrome (SRS4; 618907), Abi Habib et al. (2018) identified heterozygosity for different 1-bp deletions in the PLAG1 gene (603026.0001 and 603026.0002). Experiments in Hep3b cells demonstrated that PLAG1 positively regulates expression of the IGF2 (147470) promoter P3, both independently and via an HMGA2 (600698)-PLAG1-IGF2 pathway. The authors noted that disruption of any gene in the pathway results in a decrease in IGF2 expression and produces an SRS phenotype similar to that of patients carrying 11p15.5 epigenetic defects (see SRS1; 180860). </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>Karim et al. (2011) mapped a quantitative trait locus (QTL) with a major effect on bovine stature to an approximately 780-bp interval on chromosome 14. They identified 8 candidate quantitative trait nucleotides (QTNs) within the QTL and showed that these QTNs influenced fetal expression of 7 of the 9 genes within the QTL. Two of the QTNs are located within the approximately 500-bp intergenic region between the Plag1 and Chchd7 genes, which are oriented in a head-to-head fashion. The intergenic region is phylogenetically conserved and functions as a bidirectional promoter. Reporter gene assays and EMSA showed that these 2 QTNs influenced bidirectional promoter strength and affected binding of nuclear factors. The presence of a naturally occurring null allele excluded Chchd7 as the causative gene. Karim et al. (2011) noted that Plag1 regulates several growth factors, including Igf2 (147470), a key regulator of body size. </p><p>Juma et al. (2017) noted that Plag1 deficiency results in reduced fertility in male and female mice. Using Plag1 -/- and +/- mice, they showed that loss of Plag1 expression led to reduced expression of genes involved in spermatogenesis and testosterone synthesis, as well as upregulation of genes involved in immune responses and epididymis-specific functions. Histologic and TUNEL analyses revealed that loss of Plag1 resulted in defects in testicular appearance and apoptotic cells. Plag1 deficiency also led to reduced testis and seminal vesicle weight, daily sperm production, and sperm motility. Juma et al. (2017) concluded that PLAG1 plays important roles in testicular function and sperm motility. </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 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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<h4>
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<span class="mim-font">
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<strong>.0001 SILVER-RUSSELL SYNDROME 4</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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PLAG1, 1-BP DEL, NT439
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<br />
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SNP: rs1114167317,
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ClinVar: RCV000490859, RCV001174521
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</span>
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<span class="mim-text-font">
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<p>In a mother and 2 daughters with Silver-Russell syndrome (SRS4; 618907), Abi Habib et al. (2018) identified heterozygosity for a 1-bp deletion (c.439del, NM_002655.2) in exon 5 of the PLAG1 gene, causing a frameshift predicted to result in a premature termination codon (Ser147ValfsTer82). The mutation was not present in the unaffected father, in polymorphism databases, or the ExAC database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SILVER-RUSSELL SYNDROME 4</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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PLAG1, 1-BP DEL, NT1363
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<br />
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SNP: rs1114167318,
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ClinVar: RCV000491883, RCV001174522
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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 female patient with Silver-Russell syndrome (SRS4; 618907), Abi Habib et al. (2018) identified heterozygosity for a de novo 1-bp deletion (c.1363del, NM_002655.2) in the PLAG1 gene, causing a frameshift predicted to result in a premature termination codon (Gln455SerfsTer16). The mutation was not found in unaffected relatives, including her twin brother, an older brother, or her parents. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Abi Habib, W., Brioude, F., Edouard, T., Bennett, J. T., Lienhardt-Roussie, A., Tixier, F., Salem, J., Yuen, T., Azzi, S., Le Bouc, Y., Harbison, M. D., Netchine, I.
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<strong>Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.</strong>
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Genet. Med. 20: 250-258, 2018.
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[PubMed: 28796236]
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[Full Text: https://doi.org/10.1038/gim.2017.105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Asp, J., Persson, F., Kost-Alimova, M., Stenman, G.
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<strong>CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.</strong>
|
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Genes Chromosomes Cancer 45: 820-828, 2006.
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[PubMed: 16736500]
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[Full Text: https://doi.org/10.1002/gcc.20346]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Astrom, A.-K., Voz, M. L., Kas, K., Roijer, E., Wedell, B., Mandahl, N., Van de Ven, W., Mark, J., Stenman, G.
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|
<strong>Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene.</strong>
|
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Cancer Res. 59: 918-923, 1999.
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[PubMed: 10029085]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Juma, A. R., Grommen, S. V. H., O'Bryan, M. K., O'Connor, A. E., Merriner, D. J., Hall, N. E., Doyle, S. R., Damdimopoulou, P. E., Barriga, D., Hart, A. H., Van de Ven, W. J. M., De Groef, B.
|
|
<strong>PLAG1 deficiency impairs spermatogenesis and sperm motility in mice.</strong>
|
|
Sci. Rep. 7: 5317, 2017. Note: Electronic Article.
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[PubMed: 28706261]
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[Full Text: https://doi.org/10.1038/s41598-017-05676-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Karim, L., Takeda, H., Lin, L., Druet, T., Arias, J. A. C., Baurain, D., Cambisano, N., Davis, S. R., Farnir, F., Grisart, B., Harris, B. L., Keehan, M. D., Littlejohn, M. D., Spelman, R. J., Georges, M., Coppieters, W.
|
|
<strong>Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.</strong>
|
|
Nature Genet. 43: 405-413, 2011.
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[PubMed: 21516082]
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[Full Text: https://doi.org/10.1038/ng.814]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kas, K., Roijer, E., Voz, M., Meyen, E., Stenman, G., Van de Ven, W. J. M.
|
|
<strong>A 2-Mb YAC contig and physical map covering the chromosome 8q12 breakpoint cluster region in pleomorphic adenomas of the salivary glands.</strong>
|
|
Genomics 43: 349-358, 1997.
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|
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|
|
[PubMed: 9268638]
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|
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[Full Text: https://doi.org/10.1006/geno.1997.4819]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kas, K., Voz, M. L., Roijer, E., Astrom, A.-K., Meyen, E., Stenman, G., Van de Ven, W. J. M.
|
|
<strong>Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.</strong>
|
|
Nature Genet. 15: 170-174, 1997. Note: Erratum: Nature Genet. 15: 411 only, 1997.
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|
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[PubMed: 9020842]
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|
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[Full Text: https://doi.org/10.1038/ng0297-170]
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</p>
|
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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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Marla J. F. O'Neill - updated : 06/12/2020<br>Matthew B. Gross - updated : 05/20/2020<br>Paul J. Converse - updated : 08/16/2017<br>Patricia A. Hartz - updated : 5/13/2011<br>Dorothy S. Reilly - updated : 7/23/2007<br>Victor A. McKusick - updated : 4/16/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sheryl A. Jankowski : 9/9/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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Edit History:
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carol : 06/15/2020<br>alopez : 06/12/2020<br>mgross : 05/20/2020<br>mgross : 08/16/2017<br>mgross : 08/16/2017<br>terry : 04/04/2013<br>mgross : 5/13/2011<br>terry : 5/13/2011<br>wwang : 7/23/2007<br>carol : 4/19/1999<br>terry : 4/16/1999<br>psherman : 9/14/1998<br>psherman : 9/11/1998<br>psherman : 9/11/1998
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