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Entry
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- *605313 - RNA-BINDING MOTIF PROTEIN 8A; RBM8A
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- OMIM
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<p>
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<span class="h4">*605313</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605313">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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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</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=ENSG00000265241;t=ENST00000583313" 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=9939" 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=605313" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000265241;t=ENST00000583313" 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_005105" 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_005105" 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=605313" 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 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=05609&isoform_id=05609_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/RBM8A" 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/4455129,4826972,6841450,7158824,10197630,10436078,10720244,11034805,16589052,16877694,17389453,45503712,49456567,49456603,119591824,119591825,193786728,618730896,645170926,645170935,645170941" 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/Q9Y5S9" 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=9939" 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=ENSG00000265241;t=ENST00000583313" 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=RBM8A" 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=RBM8A" 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+9939" 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/RBM8A" 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:9939" 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/9939" 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=chr1&hgg_gene=ENST00000633781.1&hgg_start=145921556&hgg_end=145927484&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9905" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/rbm8a" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605313[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=605313[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/RBM8A/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000265241" 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=RBM8A" 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=RBM8A" 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=RBM8A" 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=RBM8A&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/PA34270" 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:9905" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0033378.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/search?q=MGI:1913129 MGI:3612447" 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/RBM8A#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/batch/summary?idType=MGI&ids=MGI:1913129 MGI:3612447" 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/9939/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=9939" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004387;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050306-51" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9939" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=RBM8A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 85589009<br />
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<strong>ICD10CM:</strong> Q87.2<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605313
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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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RNA-BINDING MOTIF PROTEIN 8A; RBM8A
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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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RNA-BINDING MOTIF PROTEIN 8; RBM8<br />
|
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Y14
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RBM8A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RBM8A</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/1025?start=-3&limit=10&highlight=1025">1q21.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:145921556-145927484&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'})">1:145,921,556-145,927,484</a> </span>
|
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1025?start=-3&limit=10&highlight=1025">
|
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1q21.1
|
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</a>
|
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</span>
|
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</td>
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Thrombocytopenia-absent radius syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/274000"> 274000 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605313" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605313" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>The RBM8A gene encodes Y14, 1 of the 4 components of the exon-junction complex (EJC), which is involved in basic cellular functions such as nuclear export and subcellular localization of specific transcripts, translational enhancement, and nonsense-mediated RNA decay (NMD) (summary by <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" 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>Mago nashi (MAGOH; <a href="/entry/602603">602603</a>), meaning grandchildless, is the homolog of a Drosophila protein required for normal germ plasm development in fly embryos. By performing a yeast 2-hybrid screen on a fetal brain cDNA library with MAGOH as the bait, <a href="#9" class="mim-tip-reference" title="Zhao, X.-F., Nowak, N. J., Shows, T. B., Aplan, P. D. <strong>MAGOH interacts with a novel RNA-binding protein.</strong> Genomics 63: 145-148, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662555</a>] [<a href="https://doi.org/10.1006/geno.1999.6064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662555">Zhao et al. (2000)</a> recovered a cDNA encoding RBM8. The 173-amino acid RBM8 protein is more than 93% identical to the mouse and zebrafish sequences, and the mouse differences are all accounted for by an 11-amino acid N-terminal insertion and another single-residue insertion in the mouse sequence. Exchange partner and GST pull-down assays confirmed the MAGOH-RBM8 interaction and showed that RBM8 is expressed as a 26-kD protein, slightly larger than the predicted mass of 23 kD. Northern blot analysis detected a major RBM8 transcript of less than 1.0 kb in all tissues tested, with weakest expression in pancreas and brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching an EST database for homologs of the gonadotropin-releasing hormone receptor (GNRHR; <a href="/entry/138850">138850</a>), followed by 5-prime RACE on a skeletal muscle cDNA library, <a href="#2" class="mim-tip-reference" title="Conklin, D. C., Rixon, M. W., Kuestner, R. E., Maurer, M. F., Whitmore, T. E., Millar, R. P. <strong>Cloning and gene expression of a novel human ribonucleoprotein.</strong> Biochim. Biophys. Acta 1492: 465-469, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11004516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11004516</a>] [<a href="https://doi.org/10.1016/s0167-4781(00)00090-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11004516">Conklin et al. (2000)</a> identified a cDNA encoding RBM8. Northern blot analysis detected a major 0.9-kb transcript in all tissues tested. Sequence analysis of the 174-amino acid protein predicted an RNA-binding domain, which is composed of 2 amphipathic alpha helices packed against a 4-stranded beta sheet, and a C-terminal arg-rich segment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11004516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By performing a yeast 2-hybrid screen on a HeLa cell cDNA library to identify potential cargoes for RAN-binding protein-5 (RANBP5; <a href="/entry/602008">602008</a>), <a href="#5" class="mim-tip-reference" title="Kataoka, N., Yong, J., Kim, V. N., Velazquez, F., Perkinson, R. A., Wang, F., Dreyfuss, G. <strong>Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm.</strong> Molec. Cell 6: 673-682, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030346</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)00065-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11030346">Kataoka et al. (2000)</a> isolated cDNAs encoding RBM8, which they called Y14. RBM8 encodes a predicted 174-amino acid, predominantly nuclear nucleocytoplasmic shuttling protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030346" 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="#8" class="mim-tip-reference" title="Salicioni, A. M., Xi. M., Vanderveer, L. A., Balsara, B., Testa, J. R., Dunbrack, R. L., Jr., Godwin, A. K. <strong>Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor.</strong> Genomics 69: 54-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11013075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11013075</a>] [<a href="https://doi.org/10.1006/geno.2000.6315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11013075">Salicioni et al. (2000)</a> used a yeast 2-hybrid screen to identify cDNAs from a human fetal brain cDNA library encoding proteins that interact with OVCA1 (<a href="/entry/603527">603527</a>), a candidate tumor suppressor protein. They identified cDNAs, which they initially referred to as BOV1, that appeared to encode a new member of the conserved RNA-binding motif protein family. One of the cDNAs isolated was identical to RBM8A; another, designated RBM8B, was thought by <a href="#8" class="mim-tip-reference" title="Salicioni, A. M., Xi. M., Vanderveer, L. A., Balsara, B., Testa, J. R., Dunbrack, R. L., Jr., Godwin, A. K. <strong>Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor.</strong> Genomics 69: 54-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11013075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11013075</a>] [<a href="https://doi.org/10.1006/geno.2000.6315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11013075">Salicioni et al. (2000)</a> to be a novel functional gene, but was later determined to be a pseudogene. Northern blot analysis revealed that BOV1 is ubiquitously expressed as 3 distinct mRNA species of 1, 3.2, and 5.8 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11013075" 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="Kataoka, N., Yong, J., Kim, V. N., Velazquez, F., Perkinson, R. A., Wang, F., Dreyfuss, G. <strong>Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm.</strong> Molec. Cell 6: 673-682, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030346</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)00065-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11030346">Kataoka et al. (2000)</a> found that RBM8 associates preferentially with mRNAs produced by splicing and not with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. RBM8 associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. Splicing of a single intron is sufficient for RBM8 association. RBM8-containing nuclear complexes are different from general heterogeneous nuclear ribonucleoprotein (hnRNP) complexes in that they contain hnRNP proteins and several unique proteins, including the mRNA export factor TAP (NXF1; <a href="/entry/602647">602647</a>). Thus, RBM8 defines novel intermediates in the pathway of gene expression, postsplicing nuclear preexport mRNPs, and newly exported cytoplasmic mRNPs, whose composition is established by splicing. These findings suggested that pre-mRNA splicing imprints mRNA with a unique set of proteins that persists in the cytoplasm and thereby communicates the history of the transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kim, V. N., Yong, J., Kataoka, N., Abel, L., Diem, M. D., Dreyfuss, G. <strong>The Y14 protein communicates to the cytoplasm the position of exon-exon junctions.</strong> EMBO J. 20: 2062-2068, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11296238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11296238</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11296238[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/emboj/20.8.2062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11296238">Kim et al. (2001)</a> analyzed the binding of RBM8A, which they called Y14, to pre-mRNAs injected into nuclei of Xenopus oocytes. They found that RBM8A stably bound mRNA sequences approximately -20 nucleotides upstream of exon-exon junctions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11296238" 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>Oskar mRNA localization at the posterior pole of the Drosophila oocyte is essential for germline and abdomen formation in the future embryo. Y14/RBM8 and MAGOH (<a href="/entry/602603">602603</a>), human homologs of nuclear shuttling proteins required for oskar mRNA localization, are core components of the exon-exon junction complex (EJC). The EJC is deposited on mRNAs in a splicing-dependent manner, 20 to 24 nucleotides upstream of exon-exon junctions, independent of the RNA sequence. This indicates a possible role of splicing in oskar mRNA localization, challenging the established notion that the oskar 3-prime untranslated region is sufficient for this process. <a href="#4" class="mim-tip-reference" title="Hachet, O., Ephrussi, A. <strong>Splicing of oskar RNA in the nucleus is coupled to its cytoplasmic localization.</strong> Nature 428: 959-963, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15118729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15118729</a>] [<a href="https://doi.org/10.1038/nature02521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15118729">Hachet and Ephrussi (2004)</a> demonstrated that splicing at the first exon-exon junction of oskar RNA is essential for oskar mRNA localization at the posterior pole. They revisited the issue of sufficiency of the oskar 3-prime untranslated region for posterior localization and showed that the localization of unrelated transcripts bearing the oskar 3-prime untranslated region is mediated by endogenous oskar mRNA. <a href="#4" class="mim-tip-reference" title="Hachet, O., Ephrussi, A. <strong>Splicing of oskar RNA in the nucleus is coupled to its cytoplasmic localization.</strong> Nature 428: 959-963, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15118729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15118729</a>] [<a href="https://doi.org/10.1038/nature02521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15118729">Hachet and Ephrussi (2004)</a> concluded that their results revealed an important new function for splicing: regulation of messenger ribonucleoprotein complex assembly and organization for mRNA cytoplasmic localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15118729" 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="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> showed that RBM8A is expressed in all hematopoietic lineages, and that its encoded protein sequence is highly conserved between species. <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> suggested that, given the important functions of the EJC, it is likely that a complete lack of Y14 in humans is not viable. Indeed, in Drosophila melanogaster, knockdown of its ortholog tsu leads to major defects in abdomen formation (<a href="#3" class="mim-tip-reference" title="Hachet, O., Ephrussi, A. <strong>Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport.</strong> Curr. Biol. 11: 1666-1674, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11696323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11696323</a>] [<a href="https://doi.org/10.1016/s0960-9822(01)00508-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11696323">Hachet and Ephrussi, 2001</a>), and <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> found that knockdown of the orthologous rbm8a transcript in Danio rerio using antisense morpholinos resulted in extreme malformations and death at 2 days post-fertilization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11696323+22366785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> determined that the RBM8A gene comprises 6 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" 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 PCR and radiation hybrid analysis, <a href="#9" class="mim-tip-reference" title="Zhao, X.-F., Nowak, N. J., Shows, T. B., Aplan, P. D. <strong>MAGOH interacts with a novel RNA-binding protein.</strong> Genomics 63: 145-148, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662555</a>] [<a href="https://doi.org/10.1006/geno.1999.6064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10662555">Zhao et al. (2000)</a> mapped the RBM8A gene to 1q12. <a href="#2" class="mim-tip-reference" title="Conklin, D. C., Rixon, M. W., Kuestner, R. E., Maurer, M. F., Whitmore, T. E., Millar, R. P. <strong>Cloning and gene expression of a novel human ribonucleoprotein.</strong> Biochim. Biophys. Acta 1492: 465-469, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11004516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11004516</a>] [<a href="https://doi.org/10.1016/s0167-4781(00)00090-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11004516">Conklin et al. (2000)</a> mapped the RBM8 gene to 14q21-q23 using radiation hybrid analysis, but it appears that the sequence on chromosome 14 is a pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11004516+10662555" 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>It had been shown that an inherited or de novo deletion on chromosome 1q21.1 (<a href="#7" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al., 2007</a>) is found in the majority of individuals with TAR syndrome (<a href="/entry/274000">274000</a>), but the apparent autosomal recessive nature of that syndrome required the existence of an additional causative allele. To identify the additional causative allele, <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> selected 5 individuals with TAR of European ancestry who had the 1q21.1 deletion and sequenced their exomes, but were unable to find TAR-associated coding mutations in any gene. However, 4 of the cases carried the minor allele of a low-frequency SNP in the 5-prime UTR of the RBM8A gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139428292;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs139428292</a>; <a href="#0001">605313.0001</a>), while the remaining case carried a previously unknown SNP in the first intron of the same gene (<a href="#0002">605313.0002</a>). Genotyping by Sanger sequencing of another 48 cases of European ancestry identified the 2 SNPs in 35 and 11 samples, respectively. In the 25 trios where the deletion in the child was not a de novo event, <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> confirmed that the deletion and the newly identified SNPs were inherited from different parents. The minor allele frequency of the 5-prime UTR and intronic SNPs were 3.05% and 0.42%, respectively, in 7,504 healthy individuals of the Cambridge BioResource, and the deletion was absent from 5,919 shared healthy controls of the Wellcome Trust Case Control Consortium. There were 2 TAR cases who did not carry the 1q21.1 deletion but were found to carry the 5-prime UTR SNP. <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> identified a 4-bp frameshift insertion at the start of the fourth exon (<a href="#0003">605313.0003</a>) in the first case and established that the noncoding SNP and insertion were on different chromosomes; in the second case, they identified a nonsense mutation in the last exon of RBM8A (<a href="#0004">605313.0004</a>). Both mutations were absent from 458 exome samples of the 1000 Genomes Project and 416 samples from the Cohorte Lausannoise. <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> concluded that in the vast majority of cases, compound inheritance of a rare null allele (containing a deletion, frameshift mutation, or encoded premature stop codon) and 1 of 2 low-frequency noncoding SNPs in RBM8A causes TAR syndrome. <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> showed that the 2 regulatory SNPs result in diminished RBM8A transcription in vitro and that expression of Y14 is reduced in platelets from individuals with TAR. <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> concluded that their data implicated Y14 insufficiency and, presumably, an EJC defect as the cause of TAR syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17236129+22366785" 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>Given the expression of Y14 in hematopoietic lineages and major defects observed in Drosophila and zebrafish resulting from knockdown of the respective Y14 orthologs, <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> suggested that their results are compatible with both a dose-effect phenomenon and a lineage-dependent deficiency in Y14. The possibility of a dose-effect phenomenon was supported by the observation that simple haploinsufficiency is not sufficient to create an aberrant phenotype, as evidenced by the seemingly healthy carriers of the 1q21.1 deletion. <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> did not observe an effect on platelet count for either the 5-prime UTR or the intronic SNP in the 403 and 59 individuals from the Cambridge BioResource who carried the minor allele for each SNP, respectively. The authors suggested that compound inheritance of a null allele together with the minor allele of 1 of the 2 regulatory SNPs brings Y14 levels below a critical threshold in certain tissues. The cell line-dependent effect shown in luciferase assays suggested a combinatorial binding of transcription factors, including EVI1 (<a href="/entry/165215">165215</a>), in the context of regulatory SNPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" 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"><span class="text-primary">●</span> rs139428292 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139428292;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs139428292?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs139428292" 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=rs139428292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 41 of 55 patients with thrombocytopenia-absent radius syndrome (TAR; <a href="/entry/274000">274000</a>), <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> identified the presence of the minor allele (A) of a G-to-A SNP, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139428292;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs139428292</a> (chr1:145,507,646, GRCh37), in the 5-prime untranslated region (UTR) of the RBM8A gene. In 39 of these patients this SNP was found in compound heterozygosity with a 200-kb deletion including the RBM8A gene and 10 other genes; in 2 patients the SNP occurred in compound heterozygosity with 1 of 2 null mutations in the RBM8A gene. The minor allele frequency of the SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139428292;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs139428292</a> was 3.05% in 7,504 healthy individuals of the Cambridge BioResource. This SNP resulted in diminished RBM8A transcription in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" 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"><span class="text-primary">●</span> rs201779890 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201779890;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs201779890?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs201779890" 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=rs201779890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 12 of 55 patients with thrombocytopenia-absent radius syndrome (TAR; <a href="/entry/274000">274000</a>), <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> identified the presence of the minor allele (C) of a SNP in the first intron of the RBM8A gene (chr1:145,507,765, GRCh37). The SNP occurred in compound heterozygosity with a 200-kb deletion including the RBM8A gene and 10 other genes. The minor allele frequency of this intronic SNP was 0.42% in 7,504 healthy individuals of the Cambridge BioResource. This SNP resulted in diminished RBM8A transcription in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" 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">rs397515388 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515388;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=rs397515388" 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=rs397515388" 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 patient with thrombocytopenia-absent radius syndrome (TAR; <a href="/entry/274000">274000</a>), <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> found compound heterozygosity for a 4-bp insertion (AGCG, chr1:145,508,476, GRCh37) in exon 4 of the RBM8A gene, resulting in frameshift, and a SNP in the 5-prime UTR (<a href="#0001">605313.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" 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">rs397515389 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515389;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=rs397515389" 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=rs397515389" 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 patient with thrombocytopenia-absent radius syndrome (TAR; <a href="/entry/274000">274000</a>), <a href="#1" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> found compound heterozygosity for a premature termination mutation in the last exon of the RBM8A gene (C-T, chr1:145,509,173, GRCh37) and a SNP in the 5-prime UTR (<a href="#0001">605313.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others.
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<strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong>
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Nature Genet. 44: 435-439, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Conklin, D. C., Rixon, M. W., Kuestner, R. E., Maurer, M. F., Whitmore, T. E., Millar, R. P.
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<strong>Cloning and gene expression of a novel human ribonucleoprotein.</strong>
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Biochim. Biophys. Acta 1492: 465-469, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11004516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11004516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11004516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport.</strong>
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Curr. Biol. 11: 1666-1674, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11696323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11696323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11696323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Splicing of oskar RNA in the nucleus is coupled to its cytoplasmic localization.</strong>
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Nature 428: 959-963, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15118729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15118729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15118729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Kataoka2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kataoka, N., Yong, J., Kim, V. N., Velazquez, F., Perkinson, R. A., Wang, F., Dreyfuss, G.
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<strong>Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm.</strong>
|
|
Molec. Cell 6: 673-682, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(00)00065-4" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kim2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, V. N., Yong, J., Kataoka, N., Abel, L., Diem, M. D., Dreyfuss, G.
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<strong>The Y14 protein communicates to the cytoplasm the position of exon-exon junctions.</strong>
|
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EMBO J. 20: 2062-2068, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11296238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11296238</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11296238[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11296238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/emboj/20.8.2062" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Klopocki2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S.
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<strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong>
|
|
Am. J. Hum. Genet. 80: 232-240, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236129" 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/10.1086/510919" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Salicioni2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Salicioni, A. M., Xi. M., Vanderveer, L. A., Balsara, B., Testa, J. R., Dunbrack, R. L., Jr., Godwin, A. K.
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|
<strong>Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor.</strong>
|
|
Genomics 69: 54-62, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11013075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11013075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11013075" 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.2000.6315" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Zhao2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhao, X.-F., Nowak, N. J., Shows, T. B., Aplan, P. D.
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<strong>MAGOH interacts with a novel RNA-binding protein.</strong>
|
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Genomics 63: 145-148, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10662555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10662555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10662555" 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.1999.6064" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Ada Hamosh - updated : 4/18/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 4/27/2004<br>Patricia A. Hartz - updated : 1/16/2003<br>Carol A. Bocchini - updated : 12/21/2000<br>Paul J. Converse - updated : 11/9/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Stylianos E. Antonarakis : 10/2/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/03/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 05/07/2015<br>alopez : 4/19/2012<br>alopez : 4/18/2012<br>terry : 4/18/2012<br>wwang : 3/26/2007<br>alopez : 4/27/2004<br>terry : 4/27/2004<br>cwells : 1/17/2003<br>terry : 1/16/2003<br>mgross : 10/7/2002<br>carol : 12/14/2001<br>carol : 12/26/2000<br>carol : 12/21/2000<br>carol : 12/21/2000<br>carol : 12/21/2000<br>mgross : 11/9/2000<br>mgross : 11/9/2000<br>mgross : 10/2/2000
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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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> 605313
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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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RNA-BINDING MOTIF PROTEIN 8A; RBM8A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</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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RNA-BINDING MOTIF PROTEIN 8; RBM8<br />
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Y14
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RBM8A</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 85589009;
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<strong>ICD10CM:</strong> Q87.2;
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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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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1q21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:145,921,556-145,927,484 </span>
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
1q21.1
|
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</span>
|
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</td>
|
|
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<td>
|
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<span class="mim-font">
|
|
Thrombocytopenia-absent radius syndrome
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
274000
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<span class="mim-text-font">
|
|
<p>The RBM8A gene encodes Y14, 1 of the 4 components of the exon-junction complex (EJC), which is involved in basic cellular functions such as nuclear export and subcellular localization of specific transcripts, translational enhancement, and nonsense-mediated RNA decay (NMD) (summary by Albers et al., 2012). </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">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Mago nashi (MAGOH; 602603), meaning grandchildless, is the homolog of a Drosophila protein required for normal germ plasm development in fly embryos. By performing a yeast 2-hybrid screen on a fetal brain cDNA library with MAGOH as the bait, Zhao et al. (2000) recovered a cDNA encoding RBM8. The 173-amino acid RBM8 protein is more than 93% identical to the mouse and zebrafish sequences, and the mouse differences are all accounted for by an 11-amino acid N-terminal insertion and another single-residue insertion in the mouse sequence. Exchange partner and GST pull-down assays confirmed the MAGOH-RBM8 interaction and showed that RBM8 is expressed as a 26-kD protein, slightly larger than the predicted mass of 23 kD. Northern blot analysis detected a major RBM8 transcript of less than 1.0 kb in all tissues tested, with weakest expression in pancreas and brain. </p><p>By searching an EST database for homologs of the gonadotropin-releasing hormone receptor (GNRHR; 138850), followed by 5-prime RACE on a skeletal muscle cDNA library, Conklin et al. (2000) identified a cDNA encoding RBM8. Northern blot analysis detected a major 0.9-kb transcript in all tissues tested. Sequence analysis of the 174-amino acid protein predicted an RNA-binding domain, which is composed of 2 amphipathic alpha helices packed against a 4-stranded beta sheet, and a C-terminal arg-rich segment. </p><p>By performing a yeast 2-hybrid screen on a HeLa cell cDNA library to identify potential cargoes for RAN-binding protein-5 (RANBP5; 602008), Kataoka et al. (2000) isolated cDNAs encoding RBM8, which they called Y14. RBM8 encodes a predicted 174-amino acid, predominantly nuclear nucleocytoplasmic shuttling protein. </p><p>Salicioni et al. (2000) used a yeast 2-hybrid screen to identify cDNAs from a human fetal brain cDNA library encoding proteins that interact with OVCA1 (603527), a candidate tumor suppressor protein. They identified cDNAs, which they initially referred to as BOV1, that appeared to encode a new member of the conserved RNA-binding motif protein family. One of the cDNAs isolated was identical to RBM8A; another, designated RBM8B, was thought by Salicioni et al. (2000) to be a novel functional gene, but was later determined to be a pseudogene. Northern blot analysis revealed that BOV1 is ubiquitously expressed as 3 distinct mRNA species of 1, 3.2, and 5.8 kb. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Kataoka et al. (2000) found that RBM8 associates preferentially with mRNAs produced by splicing and not with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. RBM8 associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. Splicing of a single intron is sufficient for RBM8 association. RBM8-containing nuclear complexes are different from general heterogeneous nuclear ribonucleoprotein (hnRNP) complexes in that they contain hnRNP proteins and several unique proteins, including the mRNA export factor TAP (NXF1; 602647). Thus, RBM8 defines novel intermediates in the pathway of gene expression, postsplicing nuclear preexport mRNPs, and newly exported cytoplasmic mRNPs, whose composition is established by splicing. These findings suggested that pre-mRNA splicing imprints mRNA with a unique set of proteins that persists in the cytoplasm and thereby communicates the history of the transcript. </p><p>Kim et al. (2001) analyzed the binding of RBM8A, which they called Y14, to pre-mRNAs injected into nuclei of Xenopus oocytes. They found that RBM8A stably bound mRNA sequences approximately -20 nucleotides upstream of exon-exon junctions. </p><p>Oskar mRNA localization at the posterior pole of the Drosophila oocyte is essential for germline and abdomen formation in the future embryo. Y14/RBM8 and MAGOH (602603), human homologs of nuclear shuttling proteins required for oskar mRNA localization, are core components of the exon-exon junction complex (EJC). The EJC is deposited on mRNAs in a splicing-dependent manner, 20 to 24 nucleotides upstream of exon-exon junctions, independent of the RNA sequence. This indicates a possible role of splicing in oskar mRNA localization, challenging the established notion that the oskar 3-prime untranslated region is sufficient for this process. Hachet and Ephrussi (2004) demonstrated that splicing at the first exon-exon junction of oskar RNA is essential for oskar mRNA localization at the posterior pole. They revisited the issue of sufficiency of the oskar 3-prime untranslated region for posterior localization and showed that the localization of unrelated transcripts bearing the oskar 3-prime untranslated region is mediated by endogenous oskar mRNA. Hachet and Ephrussi (2004) concluded that their results revealed an important new function for splicing: regulation of messenger ribonucleoprotein complex assembly and organization for mRNA cytoplasmic localization. </p><p>Albers et al. (2012) showed that RBM8A is expressed in all hematopoietic lineages, and that its encoded protein sequence is highly conserved between species. Albers et al. (2012) suggested that, given the important functions of the EJC, it is likely that a complete lack of Y14 in humans is not viable. Indeed, in Drosophila melanogaster, knockdown of its ortholog tsu leads to major defects in abdomen formation (Hachet and Ephrussi, 2001), and Albers et al. (2012) found that knockdown of the orthologous rbm8a transcript in Danio rerio using antisense morpholinos resulted in extreme malformations and death at 2 days post-fertilization. </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>Albers et al. (2012) determined that the RBM8A gene comprises 6 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By PCR and radiation hybrid analysis, Zhao et al. (2000) mapped the RBM8A gene to 1q12. Conklin et al. (2000) mapped the RBM8 gene to 14q21-q23 using radiation hybrid analysis, but it appears that the sequence on chromosome 14 is a pseudogene. </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>It had been shown that an inherited or de novo deletion on chromosome 1q21.1 (Klopocki et al., 2007) is found in the majority of individuals with TAR syndrome (274000), but the apparent autosomal recessive nature of that syndrome required the existence of an additional causative allele. To identify the additional causative allele, Albers et al. (2012) selected 5 individuals with TAR of European ancestry who had the 1q21.1 deletion and sequenced their exomes, but were unable to find TAR-associated coding mutations in any gene. However, 4 of the cases carried the minor allele of a low-frequency SNP in the 5-prime UTR of the RBM8A gene (rs139428292; 605313.0001), while the remaining case carried a previously unknown SNP in the first intron of the same gene (605313.0002). Genotyping by Sanger sequencing of another 48 cases of European ancestry identified the 2 SNPs in 35 and 11 samples, respectively. In the 25 trios where the deletion in the child was not a de novo event, Albers et al. (2012) confirmed that the deletion and the newly identified SNPs were inherited from different parents. The minor allele frequency of the 5-prime UTR and intronic SNPs were 3.05% and 0.42%, respectively, in 7,504 healthy individuals of the Cambridge BioResource, and the deletion was absent from 5,919 shared healthy controls of the Wellcome Trust Case Control Consortium. There were 2 TAR cases who did not carry the 1q21.1 deletion but were found to carry the 5-prime UTR SNP. Albers et al. (2012) identified a 4-bp frameshift insertion at the start of the fourth exon (605313.0003) in the first case and established that the noncoding SNP and insertion were on different chromosomes; in the second case, they identified a nonsense mutation in the last exon of RBM8A (605313.0004). Both mutations were absent from 458 exome samples of the 1000 Genomes Project and 416 samples from the Cohorte Lausannoise. Albers et al. (2012) concluded that in the vast majority of cases, compound inheritance of a rare null allele (containing a deletion, frameshift mutation, or encoded premature stop codon) and 1 of 2 low-frequency noncoding SNPs in RBM8A causes TAR syndrome. Albers et al. (2012) showed that the 2 regulatory SNPs result in diminished RBM8A transcription in vitro and that expression of Y14 is reduced in platelets from individuals with TAR. Albers et al. (2012) concluded that their data implicated Y14 insufficiency and, presumably, an EJC defect as the cause of TAR syndrome. </p><p>Given the expression of Y14 in hematopoietic lineages and major defects observed in Drosophila and zebrafish resulting from knockdown of the respective Y14 orthologs, Albers et al. (2012) suggested that their results are compatible with both a dose-effect phenomenon and a lineage-dependent deficiency in Y14. The possibility of a dose-effect phenomenon was supported by the observation that simple haploinsufficiency is not sufficient to create an aberrant phenotype, as evidenced by the seemingly healthy carriers of the 1q21.1 deletion. Albers et al. (2012) did not observe an effect on platelet count for either the 5-prime UTR or the intronic SNP in the 403 and 59 individuals from the Cambridge BioResource who carried the minor allele for each SNP, respectively. The authors suggested that compound inheritance of a null allele together with the minor allele of 1 of the 2 regulatory SNPs brings Y14 levels below a critical threshold in certain tissues. The cell line-dependent effect shown in luciferase assays suggested a combinatorial binding of transcription factors, including EVI1 (165215), in the context of regulatory SNPs. </p>
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</span>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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RBM8A, 5-PRIME UTR, G-A ({dbSNP rs139428292})
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<br />
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SNP: rs139428292,
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gnomAD: rs139428292,
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ClinVar: RCV000023418, RCV000081257, RCV003390698
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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 41 of 55 patients with thrombocytopenia-absent radius syndrome (TAR; 274000), Albers et al. (2012) identified the presence of the minor allele (A) of a G-to-A SNP, rs139428292 (chr1:145,507,646, GRCh37), in the 5-prime untranslated region (UTR) of the RBM8A gene. In 39 of these patients this SNP was found in compound heterozygosity with a 200-kb deletion including the RBM8A gene and 10 other genes; in 2 patients the SNP occurred in compound heterozygosity with 1 of 2 null mutations in the RBM8A gene. The minor allele frequency of the SNP rs139428292 was 3.05% in 7,504 healthy individuals of the Cambridge BioResource. This SNP resulted in diminished RBM8A transcription in vitro. </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 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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RBM8A, IVS1, G-C
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<br />
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SNP: rs201779890,
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gnomAD: rs201779890,
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ClinVar: RCV000023419, RCV000172898, RCV001270062, RCV003415732
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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 12 of 55 patients with thrombocytopenia-absent radius syndrome (TAR; 274000), Albers et al. (2012) identified the presence of the minor allele (C) of a SNP in the first intron of the RBM8A gene (chr1:145,507,765, GRCh37). The SNP occurred in compound heterozygosity with a 200-kb deletion including the RBM8A gene and 10 other genes. The minor allele frequency of this intronic SNP was 0.42% in 7,504 healthy individuals of the Cambridge BioResource. This SNP resulted in diminished RBM8A transcription in vitro. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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RBM8A, 4-BP INS, EX4
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<br />
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SNP: rs397515388,
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ClinVar: RCV000023420
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient with thrombocytopenia-absent radius syndrome (TAR; 274000), Albers et al. (2012) found compound heterozygosity for a 4-bp insertion (AGCG, chr1:145,508,476, GRCh37) in exon 4 of the RBM8A gene, resulting in frameshift, and a SNP in the 5-prime UTR (605313.0001). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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RBM8A, C-T, EX6
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<br />
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SNP: rs397515389,
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ClinVar: RCV000023421
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient with thrombocytopenia-absent radius syndrome (TAR; 274000), Albers et al. (2012) found compound heterozygosity for a premature termination mutation in the last exon of the RBM8A gene (C-T, chr1:145,509,173, GRCh37) and a SNP in the 5-prime UTR (605313.0001). </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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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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Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others.
|
|
<strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong>
|
|
Nature Genet. 44: 435-439, 2012.
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[PubMed: 22366785]
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[Full Text: https://doi.org/10.1038/ng.1083]
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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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Conklin, D. C., Rixon, M. W., Kuestner, R. E., Maurer, M. F., Whitmore, T. E., Millar, R. P.
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<strong>Cloning and gene expression of a novel human ribonucleoprotein.</strong>
|
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Biochim. Biophys. Acta 1492: 465-469, 2000.
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[PubMed: 11004516]
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[Full Text: https://doi.org/10.1016/s0167-4781(00)00090-7]
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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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Hachet, O., Ephrussi, A.
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<strong>Drosophila Y14 shuttles to the posterior of the oocyte and is required for oskar mRNA transport.</strong>
|
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Curr. Biol. 11: 1666-1674, 2001.
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[PubMed: 11696323]
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[Full Text: https://doi.org/10.1016/s0960-9822(01)00508-5]
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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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Hachet, O., Ephrussi, A.
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<strong>Splicing of oskar RNA in the nucleus is coupled to its cytoplasmic localization.</strong>
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Nature 428: 959-963, 2004.
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[PubMed: 15118729]
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[Full Text: https://doi.org/10.1038/nature02521]
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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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Kataoka, N., Yong, J., Kim, V. N., Velazquez, F., Perkinson, R. A., Wang, F., Dreyfuss, G.
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<strong>Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA-binding protein that persists in the cytoplasm.</strong>
|
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Molec. Cell 6: 673-682, 2000.
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[PubMed: 11030346]
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[Full Text: https://doi.org/10.1016/s1097-2765(00)00065-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kim, V. N., Yong, J., Kataoka, N., Abel, L., Diem, M. D., Dreyfuss, G.
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<strong>The Y14 protein communicates to the cytoplasm the position of exon-exon junctions.</strong>
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EMBO J. 20: 2062-2068, 2001.
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[PubMed: 11296238]
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[Full Text: https://doi.org/10.1093/emboj/20.8.2062]
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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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Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S.
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<strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong>
|
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Am. J. Hum. Genet. 80: 232-240, 2007.
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[PubMed: 17236129]
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[Full Text: https://doi.org/10.1086/510919]
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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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Salicioni, A. M., Xi. M., Vanderveer, L. A., Balsara, B., Testa, J. R., Dunbrack, R. L., Jr., Godwin, A. K.
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<strong>Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor.</strong>
|
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Genomics 69: 54-62, 2000.
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[PubMed: 11013075]
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[Full Text: https://doi.org/10.1006/geno.2000.6315]
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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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Zhao, X.-F., Nowak, N. J., Shows, T. B., Aplan, P. D.
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<strong>MAGOH interacts with a novel RNA-binding protein.</strong>
|
|
Genomics 63: 145-148, 2000.
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[PubMed: 10662555]
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[Full Text: https://doi.org/10.1006/geno.1999.6064]
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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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Ada Hamosh - updated : 4/18/2012<br>Ada Hamosh - updated : 4/27/2004<br>Patricia A. Hartz - updated : 1/16/2003<br>Carol A. Bocchini - updated : 12/21/2000<br>Paul J. Converse - updated : 11/9/2000
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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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<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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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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Stylianos E. Antonarakis : 10/2/2000
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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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