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2910 lines
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231 KiB
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<h1 class="res_name"><a href="/gene/">Gene</a></h1>
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<h2 class="res_tagline">Genes and mapped phenotypes</h2>
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="books">Books</option><option value="pubmed">PubMed</option><option value="medgen">MedGen</option><option value="gene" selected="selected" class="last" data-ac_dict="gene">Gene</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly" data-ac_dict="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene" data-ac_dict="gene">Gene</option><option value="genome" data-ac_dict="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen">MedGen</option><option value="mesh">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore" data-ac_dict="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein" data-ac_dict="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search Gene. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'gene',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a href="/gene/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/books/NBK3841/">Help</a></li></ul></div>
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<input name="EntrezSystem2.PEntrez.Gene.Gene_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
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<h2 class="offscreen_noflow">Result Filters</h2>
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<div class="facet_cont" data-db="gene" data-default_grps="fg_gene-sources,fg_categories,fg_sequence-content,fg_status" data-sd="db:'gene',op:'select',term:'',qk:'34261',linkname:'',idsfromresult:'56652',extra:''"><ul class="facet" data-filter_id="gene-sources" id="_gene-sources"><li class="filter_grp "><div class="clearfix"><h3>Gene sources</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="genomic">Genomic</a></li></ul></li></ul><ul class="facet" data-filter_id="categories" id="_categories"><li class="filter_grp "><div class="clearfix"><h3>Categories</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="alt-splicing">Alternatively spliced</a></li><li class="fil_val"><a href="#" data-value_id="annotated-genes">Annotated genes</a></li><li class="fil_val"><a href="#" data-value_id="gene-type-protein-coding">Protein-coding</a></li></ul></li></ul><ul class="facet" data-filter_id="sequence-content" id="_sequence-content"><li class="filter_grp "><div class="clearfix"><h3>Sequence content</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="seq-ccds">CCDS</a></li><li class="fil_val"><a href="#" data-value_id="seq-ensembl">Ensembl</a></li><li class="fil_val"><a href="#" data-value_id="refseq">RefSeq</a></li><li class="fil_val"><a href="#" data-value_id="seq-refseqgene">RefSeqGene</a></li></ul></li></ul><ul class="facet" data-filter_id="status" id="_status"><li class="filter_grp "><div class="clearfix"><h3>Status</h3><a href="#" data-value_id="" class="clear clear_show">Clear</a></div><ul><li class="fil_val selected"><a href="#" data-value_id="current-only">Current</a><span class="fcount">(1)</span></li></ul></li></ul><div id="chr-location-facet-wrapper" data-bid="MCID_67d50d5a4f3d5e000d766220" data-hid="MCID_67d2a666fe1ad803e8633767" data-qky="34261" class="disabled" style="display:none"><ul class="facet" data-filter_id="chromosomal-region" id="_chromosomal-region" data-of="yes"><li class="filter_grp of_grp"><div class="clearfix"><h3>Chromosome locations</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><a id="facet_ofchromosomal-region" href="#facet_of_divchromosomal-region" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'" data-value_id="fetch_more">more...</a><div id="facet_of_divchromosomal-region" style="display:none;" class="of_popup"><h4>Chromosome locations</h4><label for="organism-filter" style="width:100%;margin-bottom:.2em;" class="">Select an organism by typing or scrolling</label><input type="text" placeholder="Enter text to narrow down the list" id="organism-filter" style="width:98%;" autocomplete="off" /><br /><div id="chr-region-tax-list"><select id="of_chromosomal-region" size="9" class="chr-region-tax-list" style="width:100%;"></select></div><div id="chr-location-info-ctrl" data-disabled="disabled"><div class="chr-field"><label for="chr-name">Chromosome</label><br /><select id="chr-name" class="chr-field" disabled="disabled"></select></div><div class="chr-field"><label for="chr-from">From</label><br /><input type="text" name="chr-from" id="chr-from" disabled="disabled" class="chr-field" /></div><div class="chr-field"><label for="chr-to">To</label><br /><input type="text" name="chr-to" id="chr-to" disabled="disabled" class="chr-field" /></div></div><div class="actions clearfix"><button class="jig-ncbibutton of_add apply-chr" data-jigconfig="'color': 'ui-ncbibutton-blue'">Apply</button></div></div></ul></li></ul></div><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
|
||
Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_gene-sources" /><label for="fg_gene-sources">Gene sources</label></li><li><input type="checkbox" id="fg_categories" /><label for="fg_categories">Categories</label></li><li><input type="checkbox" id="fg_sequence-content" /><label for="fg_sequence-content">Sequence content</label></li><li><input type="checkbox" id="fg_status" /><label for="fg_status">Status</label></li><li><input type="checkbox" id="fg_chromosomal-region" /><label for="fg_chromosomal-region">Chromosome locations</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.Gene.Gene_Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=current-only" /><input name="EntrezSystem2.PEntrez.Gene.Gene_Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.Gene.Gene_Facets.BMFacets" sid="1" type="hidden" value="" /></div>
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<span style="display: block; text-align: center;">S</span>
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<span style="display: block; text-align: center;">I</span>
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<span style="display: block; text-align: center;">D</span>
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<span style="display: block; text-align: center;">E</span>
|
||
<span style="display: block; text-align: center;">B</span>
|
||
<span style="display: block; text-align: center;">A</span>
|
||
<span style="display: block; text-align: center;">R</span>
|
||
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</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.FFormat" sid="1"><option value="full_report" format="text" selected="selected">Full Report (text)</option><option value="gene_table" format="text">Gene Table (text)</option><option value="docsum" format="text">Summary (text)</option><option value="tabular" format="text">Tabular (text)</option><option value="asn1" format="text">ASN.1</option><option value="xml" format="text">XML</option><option value="uilist" format="text">UI List</option></select></li></ul><button name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.FileFormat" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastPresentation" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Presentation" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Sort" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastSort" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.FileSort" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PrevPresentation" sid="1" type="hidden" value="full_report" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
|
||
<div>
|
||
|
||
|
||
|
||
</div>
|
||
<div class="">
|
||
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
|
||
|
||
</div>
|
||
<div id="messagearea" class="empty">
|
||
|
||
<div><ul class="messages" id="FacetsMsg"></ul><div><ul class="messages gene-fc-message"><li class="info icon"><span class="icon">Showing Current items.</span></li></ul></div></div>
|
||
|
||
|
||
</div>
|
||
<div class="rprt full-rprt">
|
||
<div>
|
||
<div class="rprt-header">
|
||
<input type="hidden" id="gene-tax-id" value="9606" />
|
||
<h1 class="title" id="gene-name"><span class="gn" style="padding-right:.5em;">TWNK</span> twinkle mtDNA helicase [ <em class="tax">Homo sapiens</em> (human)
|
||
]
|
||
</h1>
|
||
<span class="geneid">Gene ID: 56652, updated on
|
||
8-Mar-2025</span>
|
||
</div>
|
||
<div class="download-datasets">
|
||
<script type="text/javascript" src="https://cdnjs.cloudflare.com/ajax/libs/axios/0.23.0/axios.min.js"></script>
|
||
<h4 class="download-datasets-popper jig-ncbipopper" id="download-asm" style="align-self:start" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#download-datasets-popper-menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, groupName: 'entrez_pg', adjustFit:'none'" role="button" aria-expanded="false" aria-haspopup="true">
|
||
<svg alt="download" class="dlbtn-icon" x="0px" y="0px" width="15px" height="15px" viewBox="0 0 60 60" enable-background="new 0 0 60 60" xml:space="preserve">
|
||
<g>
|
||
<polygon points="48.75,36.25 48.75,48.75 11.25,48.75 11.25,36.25 5,36.25 5,55 55,55 55,36.25 "></polygon>
|
||
<polygon points="42.5,23.75 36.25,23.75 36.25,5 23.75,5 23.75,23.75 17.5,23.75 30,42.5 "></polygon>
|
||
</g>
|
||
</svg>
|
||
<a href="#">Download Datasets</a>
|
||
</h4>
|
||
<div id="download-datasets-popper-menu" style="display:none;">
|
||
<div class="input-group">
|
||
<input type="checkbox" id="datasets-ft-gene-seq-fasta" value="FASTA_GENE" checked="checked" class="download-datasets-included-seq" />
|
||
<label for="datasets-ft-gene-seq-fasta">Gene Sequences (FASTA)</label>
|
||
</div>
|
||
<div class="input-group">
|
||
<input type="checkbox" id="datasets-ft-transcript-seq-fasta" value="FASTA_RNA" class="download-datasets-included-seq" />
|
||
<label for="datasets-ft-transcript-seq-fasta">Transcript sequences (FASTA)</label>
|
||
</div>
|
||
<div class="input-group">
|
||
<input type="checkbox" id="datasets-ft-protein-seq-fasta" value="FASTA_PROTEIN" class="download-datasets-included-seq" />
|
||
<label for="datasets-ft-protein-seq-fasta">Protein sequences(FASTA)</label>
|
||
</div>
|
||
<p style="margin-left:5px;">In addition, your package will include a detailed data report in both TSV and JSONL formats.</p>
|
||
<div class="input-group">
|
||
<label for="datasets-download-file-name">File name</label>
|
||
<input type="text" id="datasets-download-file-name" placeholder="Name your file" style="padding:5px;" value="TWNK_datasets.zip" />
|
||
</div>
|
||
<input type="hidden" id="download-datasets-base-url" value="https://api.ncbi.nlm.nih.gov/datasets/v2alpha/gene/download" />
|
||
<input type="hidden" id="gene-id-value" value="56652" />
|
||
<button id="datasets-download-submit" data-ga-action="click_begin_download" data-ga-label="download" class="jig-ncbibutton ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-gray" role="button">
|
||
<span class="ui-button-text">Download</span>
|
||
</button>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-body">
|
||
|
||
|
||
<div class="rprt-section gene-summary">
|
||
<section class="rprt-section-header" id="summary">
|
||
<h2 id="header-summary">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-summary .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Summary</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Summary_2" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div id="summaryDiv" class="section">
|
||
<dl id="summaryDl">
|
||
<dt class="noline"> Official
|
||
Symbol</dt>
|
||
<dd class="noline">TWNK<span class="prov">provided by <a href="http://www.genenames.org/" target="_blank" title="HUGO Gene Nomenclature Committee">HGNC</a></span></dd>
|
||
<dt> Official
|
||
Full Name</dt>
|
||
<dd>twinkle mtDNA helicase<span class="prov">provided by <a href="http://www.genenames.org/" target="_blank" title="HUGO Gene Nomenclature Committee">HGNC</a></span></dd>
|
||
<dt>Primary source</dt>
|
||
<dd>
|
||
<a href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1160" data-gblink-text="Ensembl">HGNC:HGNC:1160</a>
|
||
</dd>
|
||
<dt>See related</dt>
|
||
<dd>
|
||
<a href="http://www.ensembl.org/id/ENSG00000107815" data-gblink-text="Ensembl" class="genome-browser-link" data-genome-browser-link-sort="5" data-gb-url="http://www.ensembl.org/loc/ENSG00000107815">Ensembl:ENSG00000107815</a>
|
||
<a href="https://www.ncbi.nlm.nih.gov/omim/606075" data-gblink-text="Ensembl" ref="ordinalpos=1&ncbi_uid=56652&link_uid=606075">MIM:606075;</a>
|
||
<a href="https://www.alliancegenome.org/gene/HGNC:1160" data-gblink-text="Ensembl" ref="ordinalpos=1&ncbi_uid=56652&link_uid=HGNC:1160">AllianceGenome:HGNC:1160</a>
|
||
</dd>
|
||
<dt>Gene type</dt>
|
||
<dd>protein coding</dd>
|
||
<dt>RefSeq status</dt>
|
||
<dd>REVIEWED</dd>
|
||
<dt>Organism</dt>
|
||
<dd class="tax">
|
||
<a href="/Taxonomy/Browser/wwwtax.cgi?id=9606" ref="ordinalpos=1&ncbi_uid=56652&link_uid=9606">Homo sapiens</a>
|
||
</dd>
|
||
<dt>Lineage</dt>
|
||
<dd class="tax">Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo</dd>
|
||
<dt>Also known as</dt>
|
||
<dd>PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2</dd>
|
||
<dt>Summary</dt>
|
||
<dd>This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]</dd>
|
||
<dt>Expression</dt>
|
||
<dd>Ubiquitous expression in testis (RPKM 6.0), lymph node (RPKM 3.3) and 25 other tissues <a href="#gene-expression">See more</a></dd>
|
||
<dt>Orthologs</dt>
|
||
<dd class="ortholog-links">
|
||
<a href="https://www.ncbi.nlm.nih.gov/gene/226153">mouse</a>
|
||
<a href="/gene/56652/ortholog/">all</a>
|
||
</dd>
|
||
<dt style="padding-top:.5em;">
|
||
<span class="new-icon">NEW</span>
|
||
</dt>
|
||
<dd style="padding-top:.5em;">
|
||
<strong>Try the new <a href="https://www.ncbi.nlm.nih.gov/datasets/gene/id/56652/" data-ga-category="summary" data-ga-action="click_datasets_link" data-ga-label="gene_table" title="View selected attributes for an input list of genes and download datasets containing genomic, transcript and protein sequences along with a detailed data report.">Gene table</a></strong>
|
||
<br />
|
||
<strong>Try the new <a href="https://www.ncbi.nlm.nih.gov/datasets/gene/id/56652/products/" data-ga-category="summary" data-ga-action="click_datasets_link" data-ga-label="transcript_table" title="View selected attributes for an input list of genes and download datasets containing genomic, transcript and protein sequences along with a detailed data report.">Transcript table</a></strong>
|
||
</dd>
|
||
</dl>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-genomic-context">
|
||
<section class="rprt-section-header" id="genomic-context">
|
||
<h2 id="header-genomic-context">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-genomic-context .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Genomic context</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Genomic_Context" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div class="gc_cont">
|
||
<div class="gt_cont_contents">
|
||
<div style="float:right"><span>See TWNK in </span><a href="/genome/gdv/?context=gene&acc=56652" class="link-to-gdv genome-browser-link" data-genome-browser-link-sort="1" data-acc="GCF_000001405.40">Genome Data Viewer</a> </div>
|
||
<dl class="dl-chr-info" style="float:left;margin-top:0;">
|
||
<dt>Location: </dt>
|
||
<dd>
|
||
<span style="display:inline-block;">10q24.31</span>
|
||
</dd>
|
||
</dl>
|
||
</div>
|
||
<dl class="dl-chr-info exon-count">
|
||
<dt>Exon count: </dt>
|
||
<dd>5</dd>
|
||
</dl>
|
||
<div class="ui-ncbigrid-outer-div" id="genomic-context-tbl-location">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-jigconfig="">
|
||
<thead>
|
||
<tr>
|
||
<th style="max-width:15%">Annotation release</th>
|
||
<th style="max-width:10%">Status</th>
|
||
<th>Assembly</th>
|
||
<th>
|
||
<span title="Chromosome">Chr</span>
|
||
</th>
|
||
<th>Location</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td>RS_2024_08</td>
|
||
<td>current</td>
|
||
<td>GRCh38.p14 (<a href="/assembly/GCF_000001405.40/" ref="ncbi_uid=56652&link_uid=GCF_000001405.40">GCF_000001405.40</a>)</td>
|
||
<td>10</td>
|
||
<td>NC_000010.11 (100987543..100994403) </td>
|
||
</tr>
|
||
<tr>
|
||
<td>RS_2024_08</td>
|
||
<td>current</td>
|
||
<td>T2T-CHM13v2.0 (<a href="/assembly/GCF_009914755.1/" ref="ncbi_uid=56652&link_uid=GCF_009914755.1">GCF_009914755.1</a>)</td>
|
||
<td>10</td>
|
||
<td>NC_060934.1 (101870918..101877778) </td>
|
||
</tr>
|
||
<tr>
|
||
<td>RS_2024_09</td>
|
||
<td>previous assembly</td>
|
||
<td>GRCh37.p13 (<a href="/assembly/GCF_000001405.25/" ref="ncbi_uid=56652&link_uid=GCF_000001405.25">GCF_000001405.25</a>)</td>
|
||
<td>10</td>
|
||
<td>NC_000010.10 (102747300..102754160) </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<p class="withnote margin_t2em"><strong>Chromosome 10 - NC_000010.11</strong><img usemap="#nbrMap56652_568815588" border="0" alt="Genomic Context describing neighboring genes" src="/gutils/geneneighb.fcgi?geneid=56652&nuc_gi=568815588&n0=SEMA4G&n1=MIR608&n2=MRPL43&n3=LOC130004541&n4=TWNK&n5=LOC127818976&n6=LZTS2&n7=LOC130004542&n8=LOC130004543&n9=LOC130004544&n10=PDZD7&n11=LOC127818977&n12=LOC127818978&n13=LOC130004545&n14=LOC130004546&n15=SFXN3&n16=LOC130004547" /><map name="nbrMap56652_568815588" id="nbrMap56652_568815588">
|
||
<area shape="rect" onMouseOver="showtip(this,event,'semaphorin 4G')" onMouseOut="hidetip()" coords="32,23,145,31" alt="Neighboring gene semaphorin 4G" href="/gene/57715" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'microRNA 608')" onMouseOut="hidetip()" coords="59,35,99,43" alt="Neighboring gene microRNA 608" href="/gene/693193" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'mitochondrial ribosomal protein L43')" onMouseOut="hidetip()" coords="74,47,154,55" alt="Neighboring gene mitochondrial ribosomal protein L43" href="/gene/84545" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 3902')" onMouseOut="hidetip()" coords="91,59,161,67" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3902" href="/gene/130004541" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102755784-102756653')" onMouseOut="hidetip()" coords="135,71,205,79" alt="Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102755784-102756653" href="/gene/127818976" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 2712')" onMouseOut="hidetip()" coords="140,83,210,91" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2712" href="/gene/130004542" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 2713')" onMouseOut="hidetip()" coords="150,23,220,31" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2713" href="/gene/130004543" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid silent region 2714')" onMouseOut="hidetip()" coords="152,95,222,103" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2714" href="/gene/130004544" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'leucine zipper tumor suppressor 2')" onMouseOut="hidetip()" coords="173,47,256,55" alt="Neighboring gene leucine zipper tumor suppressor 2" href="/gene/84445" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K4me1 hESC enhancer GRCh37_chr10:102768034-102768715')" onMouseOut="hidetip()" coords="196,35,266,43" alt="Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102768034-102768715" href="/gene/127818977" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'H3K4me1 hESC enhancer GRCh37_chr10:102768716-102769396')" onMouseOut="hidetip()" coords="199,59,269,67" alt="Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102768716-102769396" href="/gene/127818978" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 3904')" onMouseOut="hidetip()" coords="220,71,290,79" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3904" href="/gene/130004545" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 3905')" onMouseOut="hidetip()" coords="226,23,296,31" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3905" href="/gene/130004546" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'PDZ domain containing 7')" onMouseOut="hidetip()" coords="228,83,372,91" alt="Neighboring gene PDZ domain containing 7" href="/gene/79955" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'ATAC-STARR-seq lymphoblastoid active region 3906')" onMouseOut="hidetip()" coords="312,23,382,31" alt="Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3906" href="/gene/130004547" />
|
||
<area shape="rect" onMouseOver="showtip(this,event,'sideroflexin 3')" onMouseOut="hidetip()" coords="346,35,423,43" alt="Neighboring gene sideroflexin 3" href="/gene/81855" />
|
||
</map>
|
||
</p>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-genomic-regions-transcripts-products">
|
||
<section class="rprt-section-header" id="genomic-regions-transcripts-products">
|
||
<h2 id="header-genomic-regions-transcripts-products">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-genomic-regions-transcripts-products .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Genomic regions, transcripts, and products</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Genomic_Regions_Transcripts_a" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div>
|
||
<div style="text-align:right;">Go to <a href="#reference-sequences">reference sequence details</a></div>
|
||
</div>
|
||
<div>
|
||
<p class="choose">
|
||
<label for="accession" class="label">Genomic Sequence: </label>
|
||
<select name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.accessionList" sid="1" id="accessionList" data-taxid="9606" data-geneid="56652">
|
||
<option value="NC_000010.11_100987542_100994402">NC_000010.11 Chromosome 10 Reference GRCh38.p14 Primary Assembly</option>
|
||
<option value="NG_012624.1_5007_11867">NG_012624.1 RefSeqGene</option>
|
||
<option value="NC_060934.1_101870917_101877777">NC_060934.1 Chromosome 10 Alternate T2T-CHM13v2.0</option>
|
||
<option value="NC_000010.10_102747299_102754159">NC_000010.10 Chromosome 10 Reference GRCh37.p13 Primary Assembly</option>
|
||
</select>
|
||
</p>
|
||
</div>
|
||
<div id="NC_000010" class="divAccession">
|
||
<div class="seq-viewer">
|
||
<p class="note-link">
|
||
<strong>Go to nucleotide:</strong>
|
||
<a title="Nucleotide Graphic report" href="/nuccore/NC_000010.11?report=graph&from=100986513&to=100995431&app_context=Gene&assm_context=GCF_000001405.40" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_000010.11">Graphics</a>
|
||
<a title="Nucleotide FASTA report" href="/nuccore/NC_000010.11?report=fasta&from=100987543&to=100994403" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_000010.11">FASTA</a>
|
||
<a title="Nucleotide GenBank report" href="/nuccore/NC_000010.11?report=genbank&from=100987543&to=100994403" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_000010.11">GenBank</a>
|
||
</p>
|
||
<div id="divNC_000010" class="SeqViewerApp" style="clear:both;" data-sv="appname=ncbigene&embedded=true&noslider=1&id=NC_000010.11&from=100986513&to=100995431&app_context=Gene&assm_context=GCF_000001405.40">
|
||
<a href="?appname=ncbigene&embedded=true&noslider=1&id=NC_000010.11&from=100986513&to=100995431&app_context=Gene&assm_context=GCF_000001405.40"></a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NC_000010.11" sid="1" type="hidden" id="nucleotideLink_NC_000010_11_100987542_100994402" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000010.11?report=graph&amp;from=100986513&amp;to=100995431&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_000010.11">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000010.11?report=fasta&amp;from=100987543&amp;to=100994403" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_000010.11">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000010.11?report=genbank&amp;from=100987543&amp;to=100994403" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_000010.11">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NC_000010.11" sid="1" type="hidden" id="relString_NC_000010_11_100987542_100994402" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NC_000010.11&amp;from=100986513&amp;to=100995431&amp;app_context=Gene&amp;assm_context=GCF_000001405.40" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NG_012624.1" sid="1" type="hidden" id="nucleotideLink_NG_012624_1_5007_11867" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NG_012624.1?report=graph&amp;from=3978&amp;to=12896&amp;tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:ShowAllButGenes,SNPs:false,CDSProductFeats:false,ShowLabelsForAllFeatures:true,HighlightMode:2][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results][key:alignment_track,category:Alignments,annots:Unnamed][key:alignment_track,category:Alignments,annots:NA000079160.1][key:alignment_track,category:Alignments,annots:NA000010065.1]" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NG_012624.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NG_012624.1?report=fasta&amp;from=5008&amp;to=11868" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NG_012624.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NG_012624.1?report=genbank&amp;from=5008&amp;to=11868" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NG_012624.1">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NG_012624.1" sid="1" type="hidden" id="relString_NG_012624_1_5007_11867" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NG_012624.1&amp;from=3978&amp;to=12896&amp;tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:ShowAllButGenes,SNPs:false,CDSProductFeats:false,ShowLabelsForAllFeatures:true,HighlightMode:2][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results][key:alignment_track,category:Alignments,annots:Unnamed][key:alignment_track,category:Alignments,annots:NA000079160.1][key:alignment_track,category:Alignments,annots:NA000010065.1]" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NC_060934.1" sid="1" type="hidden" id="nucleotideLink_NC_060934_1_101870917_101877777" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_060934.1?report=graph&amp;from=101869888&amp;to=101878806&amp;app_context=Gene&amp;assm_context=GCF_009914755.1" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_060934.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_060934.1?report=fasta&amp;from=101870918&amp;to=101877778" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_060934.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_060934.1?report=genbank&amp;from=101870918&amp;to=101877778" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_060934.1">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NC_060934.1" sid="1" type="hidden" id="relString_NC_060934_1_101870917_101877777" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NC_060934.1&amp;from=101869888&amp;to=101878806&amp;app_context=Gene&amp;assm_context=GCF_009914755.1" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.nucleotideLink_NC_000010.10" sid="1" type="hidden" id="nucleotideLink_NC_000010_10_102747299_102754159" value="<p class="note-link"><strong>Go to nucleotide:</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000010.10?report=graph&amp;from=102746270&amp;to=102755188&amp;app_context=Gene&amp;assm_context=GCF_000001405.25" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_000010.10">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000010.10?report=fasta&amp;from=102747300&amp;to=102754160" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_000010.10">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000010.10?report=genbank&amp;from=102747300&amp;to=102754160" ref="ordinalpos=1&amp;ncbi_uid=56652&amp;link_uid=NC_000010.10">GenBank</a></p>" />
|
||
<input name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_GenomicProductsP.relString_NC_000010.10" sid="1" type="hidden" id="relString_NC_000010_10_102747299_102754159" value="appname=ncbigene&amp;embedded=true&amp;noslider=1&amp;id=NC_000010.10&amp;from=102746270&amp;to=102755188&amp;app_context=Gene&amp;assm_context=GCF_000001405.25" />
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-gene-expression">
|
||
<section class="rprt-section-header" id="gene-expression">
|
||
<h2 id="header-gene-expression">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-gene-expression .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Expression</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Expression" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div>
|
||
<div style="text-align:right;">
|
||
<a href="/gene/56652/?report=expression" data-url="/gene/56652/?report=expression" id="gene-expression-see-details">See details</a>
|
||
</div>
|
||
<div id="gene-expression-app" data-url="https://www.ncbi.nlm.nih.gov/gene/56652" data-report-type="summary">
|
||
<div>
|
||
<script type="text/javascript">
|
||
|
||
window.tissues_data = {'adrenal 10wk': {'id': '56652_Adrenal_10wk_PRJNA270632', 'gene': 56652, 'source_name': 'adrenal 10wk', 'full_rpkm': 1.24793, 'exp_rpkm': 1.25, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429814030387}, 'adrenal 16wk': {'id': '56652_Adrenal_16wk_PRJNA270632', 'gene': 56652, 'source_name': 'adrenal 16wk', 'full_rpkm': 0.884241, 'exp_rpkm': 0.884, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429814030388}, 'adrenal 18wk': {'id': '56652_Adrenal_18wk_PRJNA270632', 'gene': 56652, 'source_name': 'adrenal 18wk', 'full_rpkm': 1.73466, 'exp_rpkm': 1.73, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429814030389}, 'adrenal 20wk': {'id': '56652_Adrenal_20wk_PRJNA270632', 'gene': 56652, 'source_name': 'adrenal 20wk', 'full_rpkm': 1.13425, 'exp_rpkm': 1.13, 'var': 0.0702662, 'project_desc': 'PRJNA270632', '_version_': 1785734429814030390}, 'heart 10wk': {'id': '56652_Heart_10wk;_PRJNA270632', 'gene': 56652, 'source_name': 'heart 10wk', 'full_rpkm': 1.14625, 'exp_rpkm': 1.15, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078912}, 'heart 11wk': {'id': '56652_Heart_11wk;_PRJNA270632', 'gene': 56652, 'source_name': 'heart 11wk', 'full_rpkm': 0.366683, 'exp_rpkm': 0.367, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078913}, 'heart 17wk': {'id': '56652_Heart_17wk;_PRJNA270632', 'gene': 56652, 'source_name': 'heart 17wk', 'full_rpkm': 0.61231, 'exp_rpkm': 0.612, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078914}, 'heart 18wk': {'id': '56652_Heart_18wk;_PRJNA270632', 'gene': 56652, 'source_name': 'heart 18wk', 'full_rpkm': 0.485345, 'exp_rpkm': 0.485, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078915}, 'heart 20wk': {'id': '56652_Heart_20wk_PRJNA270632', 'gene': 56652, 'source_name': 'heart 20wk', 'full_rpkm': 0.288203, 'exp_rpkm': 0.288, 'var': 0.0179904, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078916}, 'intestine 10wk': {'id': '56652_Intestine_10wk_PRJNA270632', 'gene': 56652, 'source_name': 'intestine 10wk', 'full_rpkm': 0.215315, 'exp_rpkm': 0.215, 'var': 0.00848584, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078917}, 'intestine 11wk': {'id': '56652_Intestine_11wk_PRJNA270632', 'gene': 56652, 'source_name': 'intestine 11wk', 'full_rpkm': 0.353321, 'exp_rpkm': 0.353, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078918}, 'intestine 15wk': {'id': '56652_Intestine_15wk_PRJNA270632', 'gene': 56652, 'source_name': 'intestine 15wk', 'full_rpkm': 0.614303, 'exp_rpkm': 0.614, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078919}, 'intestine 17wk': {'id': '56652_Intestine_17wk_PRJNA270632', 'gene': 56652, 'source_name': 'intestine 17wk', 'full_rpkm': 0.624107, 'exp_rpkm': 0.624, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078920}, 'intestine 20wk': {'id': '56652_Intestine_20wk_PRJNA270632', 'gene': 56652, 'source_name': 'intestine 20wk', 'full_rpkm': 0.969822, 'exp_rpkm': 0.97, 'var': 0.1245378, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078921}, 'kidney 10wk': {'id': '56652_Kidney_10wk_PRJNA270632', 'gene': 56652, 'source_name': 'kidney 10wk', 'full_rpkm': 0.844505, 'exp_rpkm': 0.845, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078922}, 'kidney 16wk': {'id': '56652_Kidney_16wk_PRJNA270632', 'gene': 56652, 'source_name': 'kidney 16wk', 'full_rpkm': 0.359841, 'exp_rpkm': 0.36, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078923}, 'kidney 20wk': {'id': '56652_Kidney_20wk_PRJNA270632', 'gene': 56652, 'source_name': 'kidney 20wk', 'full_rpkm': 0.197704, 'exp_rpkm': 0.198, 'var': 0.0, 'project_desc': 'PRJNA270632', '_version_': 1785734429815078924}, 'lung 10wk': {'id': '56652_Lung_10wk_PRJNA270632', 'gene': 56652, 'source_name': 'lung 10wk', 'full_rpkm': 1.13339, 'exp_rpkm': 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|
||
|
||
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|
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window.details_data = {"adrenal 10wk": [{"id": "metadata_9606_SAMN03267754", "gene": 56652, "sample_id": "SAMN03267754", "full_rpkm": 1.24793, "exp_rpkm": 1.25, "exp_total": 22989, "project_desc": "PRJNA270632", "_version_": 1785734387345653765, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "adrenal 10wk", "exp_Mcount": 4852.92}], "adrenal 16wk": [{"id": "metadata_9606_SAMN03267755", "gene": 56652, "sample_id": "SAMN03267755", "full_rpkm": 0.884241, "exp_rpkm": 0.884, "exp_total": 24400, "project_desc": "PRJNA270632", "_version_": 1785734387345653764, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "adrenal 16wk", "exp_Mcount": 7269.31}], "adrenal 18wk": [{"id": "metadata_9606_SAMN03267761", "gene": 56652, "sample_id": "SAMN03267761", "full_rpkm": 1.73466, "exp_rpkm": 1.73, "exp_total": 43956, "project_desc": "PRJNA270632", "_version_": 1785734387345653763, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "adrenal 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"sample_id": "SAMN03267774", "full_rpkm": 1.02499, "exp_rpkm": 1.02, "exp_total": 24199, "project_desc": "PRJNA270632", "_version_": 1785734387344605186, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 16wk", "exp_Mcount": 6219.43}], "stomach 18wk": [{"id": "metadata_9606_SAMN03267771", "gene": 56652, "sample_id": "SAMN03267771", "full_rpkm": 1.07616, "exp_rpkm": 1.08, "exp_total": 23777, "project_desc": "PRJNA270632", "_version_": 1785734387344605185, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 18wk", "exp_Mcount": 5820.42}], "stomach 20wk": [{"id": "metadata_9606_SAMN03267765", "gene": 56652, "sample_id": "SAMN03267765", "full_rpkm": 1.07652, "exp_rpkm": 1.08, "exp_total": 18367, "project_desc": "PRJNA270632", "_version_": 1785734387342508032, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 20wk", "exp_Mcount": 4494.58}, {"id": "metadata_9606_SAMN03267781", "gene": 56652, "sample_id": "SAMN03267781", "full_rpkm": 1.19959, "exp_rpkm": 1.2, "exp_total": 20793, "project_desc": "PRJNA270632", "_version_": 1785734387343556608, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 20wk", "exp_Mcount": 4566.24}, {"id": "metadata_9606_SAMN03267783", "gene": 56652, "sample_id": "SAMN03267783", "full_rpkm": 1.14244, "exp_rpkm": 1.14, "exp_total": 20836, "project_desc": "PRJNA270632", "_version_": 1785734387344605184, "is_metadata": true, "is_sample": true, "taxid": 9606, "source_name": "stomach 20wk", "exp_Mcount": 4804.58}]}
|
||
window.taxId = 9606
|
||
</script>
|
||
|
||
|
||
<div>
|
||
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||
|
||
|
||
<select name="p" id="project-selector">
|
||
|
||
|
||
<option value="SRP051249" selected="selected" data-bioproject="PRJNA270632">
|
||
|
||
Tissue-specific circular RNA induction during human fetal development
|
||
|
||
</option>
|
||
|
||
|
||
|
||
<option value="SRP056969" data-bioproject="PRJNA280600">
|
||
|
||
RNA sequencing of total RNA from 20 human tissues
|
||
|
||
|
||
</option>
|
||
|
||
|
||
|
||
<option value="ERP003613" data-bioproject="PRJEB4337">
|
||
|
||
HPA RNA-seq normal tissues
|
||
|
||
|
||
</option>
|
||
|
||
|
||
|
||
</select>
|
||
|
||
|
||
|
||
<ul id="project-summary">
|
||
<li id="project-summary-title">Project title:
|
||
|
||
Tissue-specific circular RNA induction during human fetal development
|
||
|
||
</li>
|
||
|
||
|
||
<li id="project-summary-desc">Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA</li>
|
||
|
||
|
||
|
||
<li id="project-summary-bioprojects">BioProject: <a href="/bioproject/PRJNA270632/">PRJNA270632</a>
|
||
</li>
|
||
|
||
<li id="project-summary-pubs">Publication:
|
||
|
||
|
||
<span><a href="/pubmed/26076956/">PMID 26076956</a></span>
|
||
|
||
</li>
|
||
|
||
|
||
<li id="project-summary-analysis-date">Analysis date: Mon Apr 2 22:54:59 2018</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
<div id="gene-expr-details" class="expression-chart"></div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<script type="text/javascript" src="https://www.gstatic.com/charts/loader.js"></script>
|
||
<script type="text/javascript">
|
||
google.charts.load('current', {
|
||
'packages':[ 'corechart']
|
||
});
|
||
|
||
</script>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-bibliography">
|
||
<section class="rprt-section-header" id="bibliography"><h2 id="header-bibliography"><a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-bibliography .rprt-section-body'"><span class="ui-ncbitoggler-master-text">Bibliography</span></a></h2><div class="rprt-section-tools"><a href="#top" title="Go to the top of the page" class="gene-top-page"><span>Go to the top of the page</span></a><a href="/books/NBK3841/#EntrezGene.Bibliography" title="Help" class="gene-section-help"><span>Help</span></a></div></section>
|
||
<div class="rprt-section-body" style="">
|
||
<div class="generif-pubmed">
|
||
<h3 id="relatedarticlesinpubmed">
|
||
<a href="#" class="jig-ncbitoggler-open">Related articles in PubMed</a>
|
||
</h3>
|
||
<div class="generefbl-link">
|
||
<ol class="generef-link">
|
||
<li>
|
||
<a href="/pubmed/29316893/" ref="ordinalpos=1&ncbi_uid=56652&link_uid=29316893">Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.</a>
|
||
<span class="pubmed-auth-date"> Aydin G, <em>et al</em>. BMC Neurol, 2018 Jan 9. PMID 29316893, <span class="pubmed-pmc-link"><a href="/pmc/articles/PMC5761156/" ref="ordinalpos=0&ncbi_uid=56652&link_uid=PMC5761156">Free PMC Article</a></span></span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/32387964/" ref="ordinalpos=2&ncbi_uid=56652&link_uid=32387964">Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.</a>
|
||
<span class="pubmed-auth-date"> Zhu GY, <em>et al</em>. Clin Neurophysiol, 2020 Jul. PMID 32387964</span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20301746/" ref="ordinalpos=3&ncbi_uid=56652&link_uid=20301746">Infantile-Onset Spinocerebellar Ataxia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.</a>
|
||
<span class="pubmed-auth-date"> Adam MP, <em>et al</em>. , 1993. PMID 20301746</span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20479361/" ref="ordinalpos=4&ncbi_uid=56652&link_uid=20479361">The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.</a>
|
||
<span class="pubmed-auth-date"> Fratter C, <em>et al</em>. Neurology, 2010 May 18. PMID 20479361, <span class="pubmed-pmc-link"><a href="/pmc/articles/PMC2875130/" ref="ordinalpos=0&ncbi_uid=56652&link_uid=PMC2875130">Free PMC Article</a></span></span>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/20659899/" ref="ordinalpos=5&ncbi_uid=56652&link_uid=20659899">Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.</a>
|
||
<span class="pubmed-auth-date"> Longley MJ, <em>et al</em>. J Biol Chem, 2010 Sep 24. PMID 20659899, <span class="pubmed-pmc-link"><a href="/pmc/articles/PMC2943296/" ref="ordinalpos=0&ncbi_uid=56652&link_uid=PMC2943296">Free PMC Article</a></span></span>
|
||
</li>
|
||
</ol>
|
||
<p class="see-all-pm">
|
||
<a href="/pubmed?LinkName=gene_pubmed&from_uid=56652" title="See all 138 citations in Pubmed">See all (138) citations in PubMed</a>
|
||
</p>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="generif-pubmed generif">
|
||
<h3 id="generifsgenereferencesintofunctions">
|
||
<a href="#" class="jig-ncbitoggler-open">GeneRIFs: Gene References Into Functions</a>
|
||
</h3>
|
||
<div>
|
||
<a href="/gene/about-generif" class="whatisthis">What's a GeneRIF?</a>
|
||
<div class="generefbl-link">
|
||
<ol class="generef-link">
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/38852317" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=38852317">A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.</a>
|
||
<div id="gene-popper1" class="gene-rif-popper">Title: A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/36528058" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=36528058">The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase gamma.</a>
|
||
<div id="gene-popper2" class="gene-rif-popper">Title: The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/35914129" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=35914129">Structural insight and characterization of human Twinkle helicase in mitochondrial disease.</a>
|
||
<div id="gene-popper3" class="gene-rif-popper">Title: Structural insight and characterization of human Twinkle helicase in mitochondrial disease.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/33396418" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=33396418">Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.</a>
|
||
<div id="gene-popper4" class="gene-rif-popper">Title: Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/32161153" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=32161153">Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.</a>
|
||
<div id="gene-popper5" class="gene-rif-popper">Title: Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/33847968" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=33847968">Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.</a>
|
||
<div id="gene-popper6" class="gene-rif-popper">Title: Stimulation of Variant Forms of the Mitochondrial DNA Helicase Twinkle by the Mitochondrial Single-Stranded DNA-Binding Protein.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/32387964" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=32387964">Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.</a>
|
||
<div id="gene-popper7" class="gene-rif-popper">Title: Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/33087282" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=33087282">Consequences of compromised mitochondrial genome integrity.</a>
|
||
<div id="gene-popper8" class="gene-rif-popper">Title: Consequences of compromised mitochondrial genome integrity.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/32213598" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=32213598">Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase.</a>
|
||
<div id="gene-popper9" class="gene-rif-popper">Title: Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase.</div>
|
||
</li>
|
||
<li class="gene-rif-popper">
|
||
<a href="/pubmed/31455392" target="_blank" class="gene-rif-popper" ref="ordinalpos=1&ncbi_uid=56652&link_uid=31455392">patients with Perrault syndrome caused by TWNK mutations will manifest neurological signs in adulthood.</a>
|
||
<div id="gene-popper10" class="gene-rif-popper">Title: Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.</div>
|
||
</li>
|
||
</ol>
|
||
</div>
|
||
<div class="submit-genrif">
|
||
<span>Submit:</span>
|
||
<a href="/gene/submit-generif/?geneId=56652&sym=TWNK&name=twinkle mtDNA helicase&org=Homo sapiens">New GeneRIF</a>
|
||
<a href="/RefSeq/update.cgi?geneid=56652&symbol=TWNK;task=fixpub">Correction</a>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gene?db=gene&report=generif&term=56652" class="seeall-generif">See all GeneRIFs (62)</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-phenotypes">
|
||
<section class="rprt-section-header" id="phenotypes">
|
||
<h2 id="header-phenotypes">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-phenotypes .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Phenotypes</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Phenotype" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body info-phenotype">
|
||
<p class="nochild-link">
|
||
<a href="/gtr/tests/?term=TWNK[gene]">Find tests for this gene in the NIH Genetic Testing Registry (GTR)</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/gap/PheGenI?tab=1&gene=56652">Review eQTL and phenotype association data in this region using PheGenI</a>
|
||
</p>
|
||
<div>
|
||
<h3 id="associatedconditions">Associated conditions</h3>
|
||
<table class="jig-ncbigrid gtr-associated-cond">
|
||
<thead>
|
||
<tr>
|
||
<th class="description">Description</th>
|
||
<th>Tests</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td>
|
||
<a href="/gtr/conditions/C1849096" ref="ncbi_uid=56652&link_uid=C1849096">Infantile onset spinocerebellar ataxia</a>
|
||
<div class="gtr-associated-cond-extra">
|
||
<span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C1849096" ref="ncbi_uid=56652&link_uid=C1849096">C1849096</a></span>
|
||
<span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/271245" ref="ncbi_uid=56652"> 271245</a></span>
|
||
<span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK487393" ref="ncbi_uid=56652">Mitochondrial DNA Maintenance Defects Overview</a></span>
|
||
</div>
|
||
</td>
|
||
<td>
|
||
<a href="/gtr/tests/?term=C1849096[DISCUI]&condition=C1849096&compare_labs=1" ref="ncbi_uid=56652">Compare labs</a>
|
||
</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<a href="/gtr/conditions/C4015307" ref="ncbi_uid=56652&link_uid=C4015307">Perrault syndrome 5</a>
|
||
<div class="gtr-associated-cond-extra">
|
||
<span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C4015307" ref="ncbi_uid=56652&link_uid=C4015307">C4015307</a></span>
|
||
<span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/616138" ref="ncbi_uid=56652"> 616138</a></span>
|
||
<span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK242617" ref="ncbi_uid=56652">Perrault Syndrome</a></span>
|
||
</div>
|
||
</td>
|
||
<td>
|
||
<a href="/gtr/tests/?term=C4015307[DISCUI]&condition=C4015307&compare_labs=1" ref="ncbi_uid=56652">Compare labs</a>
|
||
</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<a href="/gtr/conditions/C1836439" ref="ncbi_uid=56652&link_uid=C1836439">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3</a>
|
||
<div class="gtr-associated-cond-extra">
|
||
<span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C1836439" ref="ncbi_uid=56652&link_uid=C1836439">C1836439</a></span>
|
||
<span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/609286" ref="ncbi_uid=56652"> 609286</a></span>
|
||
<span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK487393" ref="ncbi_uid=56652">Mitochondrial DNA Maintenance Defects Overview</a></span>
|
||
</div>
|
||
</td>
|
||
<td>
|
||
<a href="/gtr/tests/?term=C1836439[DISCUI]&condition=C1836439&compare_labs=1" ref="ncbi_uid=56652">Compare labs</a>
|
||
</td>
|
||
</tr>
|
||
<tr>
|
||
<td>
|
||
<a href="/gtr/conditions/C1843851" ref="ncbi_uid=56652&link_uid=C1843851">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a>
|
||
<div class="gtr-associated-cond-extra">
|
||
<span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C1843851" ref="ncbi_uid=56652&link_uid=C1843851">C1843851</a></span>
|
||
<span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/607459" ref="ncbi_uid=56652"> 607459</a></span>
|
||
<span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK26471" ref="ncbi_uid=56652">POLG-Related Disorders</a></span>
|
||
</div>
|
||
</td>
|
||
<td>
|
||
<a href="/gtr/tests/?term=C1843851[DISCUI]&condition=C1843851&compare_labs=1" ref="ncbi_uid=56652">Compare labs</a>
|
||
</td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-variation">
|
||
<section class="rprt-section-header" id="variation">
|
||
<h2 id="header-variation">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-variation .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Variation</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.variation" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<p class="nochild-link">
|
||
<a href="/clinvar/?term=TWNK[gene]" ref="log$=recordlinks">See variants in ClinVar</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/dbvar?LinkName=gene_dbvar&from_uid=56652" ref="log$=recordlinks">See studies and variants in dbVar</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/variation/view/?q=56652[geneid]&assm=GCF_000001405.25" ref="log$=recordlinks" data-genome-browser-link-sort="3" class="genome-browser-link" data-gblink-text="Variation Viewer (GRCh37.p13)">See Variation Viewer (GRCh37.p13)</a>
|
||
</p>
|
||
<p class="nochild-link">
|
||
<a href="/variation/view/?q=56652[geneid]" ref="log$=recordlinks" data-genome-browser-link-sort="3" class="genome-browser-link" data-gblink-text="Variation Viewer (GRCh38)">See Variation Viewer (GRCh38)</a>
|
||
</p>
|
||
<set></set>
|
||
<set></set>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-pathways">
|
||
<section class="rprt-section-header" id="pathways">
|
||
<h2 id="header-pathways">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-pathways .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Pathways from PubChem</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<ul class="geneinfo-subsec infopathway">
|
||
<iframe title="Pathways in which the gene target is involved" class="pubchem-widget" scrolling="no" src="https://pubchem.ncbi.nlm.nih.gov/gene/56652#section=Pathways&embed=true&hide_all_headings=true&page_size=25" style="border: 0; width: 100%;"></iframe>
|
||
<script type="text/javascript" src="https://pubchem.ncbi.nlm.nih.gov/pcfe/libs/iframeResizer.min.js"></script>
|
||
<script type="text/javascript">iFrameResize({log: false, checkOrigin: false}, '.pubchem-widget')</script>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-interactions">
|
||
<section class="rprt-section-header" id="interactions">
|
||
<h2 id="header-interactions">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-interactions .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Interactions</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Interactions" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<table summary="Gene Interaction" class="jig-ncbiservergrid" data-jigconfig="webservice:'/gene/56652/data/interaction/',webserviceParams: 'p$l=Ajax&p$debugoutput=off', isServersideLoad:true, isServersidePaging: true,isServersidePagingCached: true,pageSize:25">
|
||
<thead>
|
||
<tr>
|
||
<th id="inter-prod">Products</th>
|
||
<th id="inter-interactant">Interactant</th>
|
||
<th id="inter-otherGene">Other Gene</th>
|
||
<th id="inter-compl">Complex</th>
|
||
<th id="inter-source">Source</th>
|
||
<th id="inter-pubs">Pubs</th>
|
||
<th id="inter-desc">Description</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody></tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-general-gene-info">
|
||
<section class="rprt-section-header" id="general-gene-info">
|
||
<h2 id="header-general-gene-info">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-general-gene-info .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">General gene information</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.General_Gene_Information" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
|
||
<div class="rprt-section-body" style="">
|
||
<div id="gene-markers">
|
||
<h3 id="markers">
|
||
<a class="jig-ncbitoggler">Markers</a>
|
||
</h3>
|
||
<div>
|
||
<ul class="marker odd">
|
||
<li class="marker">SHGC-32265 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=72705%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=56652&link_uid=72705">UniSTS:72705</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">D10S1265 (e-PCR), detects polymorphism<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=66307%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=56652&link_uid=66307">UniSTS:66307</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">A004R30 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=74768%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=56652&link_uid=74768">UniSTS:74768</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">D10S192 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=77128%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=56652&link_uid=77128">UniSTS:77128</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker odd">
|
||
<li class="marker">STS-W80406 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=74918%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=56652&link_uid=74918">UniSTS:74918</a></li></ul></li>
|
||
</ul>
|
||
<ul class="marker ">
|
||
<li class="marker">STS-D11794 (e-PCR)<ul class="marker-link"><li><a href="https://www.ncbi.nlm.nih.gov/probe?term=50393%20%5BUniSTS%20ID%5D" ref="ordinalpos=1&ncbi_uid=56652&link_uid=50393">UniSTS:50393</a></li></ul></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div></div>
|
||
|
||
<div class="infosec">
|
||
<h3 id="homology">
|
||
<a class="jig-ncbitoggler-open">Homology</a>
|
||
</h3>
|
||
<ul class="geneinfo-subsec">
|
||
<li>
|
||
<a href="/gene/56652/ortholog/" id="ncbi-ortholog-link">NCBI Orthologs</a>
|
||
</li>
|
||
<a href="https://www.orthodb.org/?ncbi=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8178" target="_blank">
|
||
Orthologs from OrthoDB
|
||
</a>
|
||
</ul>
|
||
</div>
|
||
|
||
<!--<component id="Gene_InfoPathway"/>-->
|
||
|
||
<div class="infosec info-comment" id="info-comment">
|
||
<h3 id="CloneNames">
|
||
<a class="jig-ncbitoggler-open">Clone Names</a>
|
||
</h3>
|
||
<ul class="geneinfo-subsec">
|
||
<li>FLJ21832 </li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="gene-ontology infosec">
|
||
<h3 id="gene-ontology">
|
||
<a class="jig-ncbitoggler-open">
|
||
<span>Gene Ontology</span>
|
||
</a>
|
||
<a target="_blank" href="http://www.ebi.ac.uk/GOA" class="g-ontology-src" title="Provided by GOA">Provided by GOA</a>
|
||
</h3>
|
||
<div class="ontology-tables">
|
||
<div class="ui-ncbigrid-outer-div">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-jigconfig="isPageable: true, pageSize : 25, isSortable: true, columnTypes: ['str', 'str', 'str']">
|
||
<thead>
|
||
<tr>
|
||
<th class="col1">Function</th>
|
||
<th style="width:12%;">Evidence Code</th>
|
||
<th style="width:10%;">Pubs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0043139">enables 5'-3' DNA helicase activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-1-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-1-0" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/12975372,15167897,18971204,34950192" target="_blank" title="PubMed ID 12975372,15167897,18971204,34950192" ref="ordinalpos=1&ncbi_uid=56652&link_uid=12975372,15167897,18971204,34950192">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005524">enables ATP binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-2-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-2-0" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0016887">enables ATP hydrolysis activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-3-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-3-0" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/34950192" target="_blank" title="PubMed ID 34950192" ref="ordinalpos=1&ncbi_uid=56652&link_uid=34950192">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0003678">enables DNA helicase activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-4-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IBA</a>
|
||
<div id="evidence-code-4-0" class="ecode">Inferred from Biological aspect of Ancestor<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0036121">enables double-stranded DNA helicase activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-5-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-5-0" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0061749">enables forked DNA-dependent helicase activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-6-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-6-0" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0009378">enables four-way junction helicase activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-7-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-7-0" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0042802">enables identical protein binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-8-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IPI</a>
|
||
<div id="evidence-code-8-0" class="ecode">Inferred from Physical Interaction<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/18971204" target="_blank" title="PubMed ID 18971204" ref="ordinalpos=1&ncbi_uid=56652&link_uid=18971204">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0016853">enables isomerase activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-9-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-9-0" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0008289">enables lipid binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-10-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-10-0" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/34950192" target="_blank" title="PubMed ID 34950192" ref="ordinalpos=1&ncbi_uid=56652&link_uid=34950192">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0002020">enables protease binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-11-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IPI</a>
|
||
<div id="evidence-code-11-0" class="ecode">Inferred from Physical Interaction<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/14739292" target="_blank" title="PubMed ID 14739292" ref="ordinalpos=1&ncbi_uid=56652&link_uid=14739292">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005515">enables protein binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-12-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IPI</a>
|
||
<div id="evidence-code-12-0" class="ecode">Inferred from Physical Interaction<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/28514442,33961781" target="_blank" title="PubMed ID 28514442,33961781" ref="ordinalpos=1&ncbi_uid=56652&link_uid=28514442,33961781">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:1990518">enables single-stranded 3'-5' DNA helicase activity</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-13-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-13-0" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0003697">enables single-stranded DNA binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-14-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IBA</a>
|
||
<div id="evidence-code-14-0" class="ecode">Inferred from Biological aspect of Ancestor<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-func">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0003697">enables single-stranded DNA binding</a>
|
||
</td>
|
||
<td headers="ont-evi- ont-evi-code-">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-15-0', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-15-0" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi- ont-pub-"><a href="/pubmed/18971204" target="_blank" title="PubMed ID 18971204" ref="ordinalpos=1&ncbi_uid=56652&link_uid=18971204">PubMed</a> </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
<div class="ui-ncbigrid-outer-div">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-jigconfig="isPageable: true, pageSize : 25, isSortable: true, columnTypes: ['str', 'str', 'str']">
|
||
<thead>
|
||
<tr>
|
||
<th class="col1">Process</th>
|
||
<th style="width:12%;">Evidence Code</th>
|
||
<th style="width:10%;">Pubs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0006261">involved_in DNA-templated DNA replication</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-1-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-1-1" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"><a href="/pubmed/15167897" target="_blank" title="PubMed ID 15167897" ref="ordinalpos=1&ncbi_uid=56652&link_uid=15167897">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0071333">involved_in cellular response to glucose stimulus</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-2-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-2-1" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0006264">involved_in mitochondrial DNA replication</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-3-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IBA</a>
|
||
<div id="evidence-code-3-1" class="ecode">Inferred from Biological aspect of Ancestor<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0006264">involved_in mitochondrial DNA replication</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-4-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IMP</a>
|
||
<div id="evidence-code-4-1" class="ecode">Inferred from Mutant Phenotype<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"><a href="/pubmed/18971204" target="_blank" title="PubMed ID 18971204" ref="ordinalpos=1&ncbi_uid=56652&link_uid=18971204">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0006264">involved_in mitochondrial DNA replication</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-5-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> NAS</a>
|
||
<div id="evidence-code-5-1" class="ecode">Non-traceable Author Statement<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"><a href="/pubmed/12975372" target="_blank" title="PubMed ID 12975372" ref="ordinalpos=1&ncbi_uid=56652&link_uid=12975372">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0006390">involved_in mitochondrial transcription</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-6-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IMP</a>
|
||
<div id="evidence-code-6-1" class="ecode">Inferred from Mutant Phenotype<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"><a href="/pubmed/18971204" target="_blank" title="PubMed ID 18971204" ref="ordinalpos=1&ncbi_uid=56652&link_uid=18971204">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-comp">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0034214">involved_in protein hexamerization</a>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-evi-code-2">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-7-1', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-7-1" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-2 ont-pub-2"><a href="/pubmed/18971204" target="_blank" title="PubMed ID 18971204" ref="ordinalpos=1&ncbi_uid=56652&link_uid=18971204">PubMed</a> </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
<div class="ui-ncbigrid-outer-div">
|
||
<div class="ui-ncbigrid-inner-div">
|
||
<table class="jig-ncbigrid" data-config="isPageable: true, pageSize : 25, isSortable: true, columnTypes: ['str', 'str', 'str']">
|
||
<thead>
|
||
<tr>
|
||
<th class="col1">Component</th>
|
||
<th style="width:12%;">Evidence Code</th>
|
||
<th style="width:10%;">Pubs</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0000262">is_active_in mitochondrial chromosome</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-1-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-1-2" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"><a href="/pubmed/26253742" target="_blank" title="PubMed ID 26253742" ref="ordinalpos=1&ncbi_uid=56652&link_uid=26253742">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005743">located_in mitochondrial inner membrane</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-2-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IEA</a>
|
||
<div id="evidence-code-2-2" class="ecode">Inferred from Electronic Annotation<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005759">located_in mitochondrial matrix</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-3-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> TAS</a>
|
||
<div id="evidence-code-3-2" class="ecode">Traceable Author Statement<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0042645">located_in mitochondrial nucleoid</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-4-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IDA</a>
|
||
<div id="evidence-code-4-2" class="ecode">Inferred from Direct Assay<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"><a href="/pubmed/18063578,18971204,23275553" target="_blank" title="PubMed ID 18063578,18971204,23275553" ref="ordinalpos=1&ncbi_uid=56652&link_uid=18063578,18971204,23275553">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005739">located_in mitochondrion</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-5-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> HTP</a>
|
||
<div id="evidence-code-5-2" class="ecode">
|
||
<br />
|
||
<a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a>
|
||
</div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"><a href="/pubmed/34800366" target="_blank" title="PubMed ID 34800366" ref="ordinalpos=1&ncbi_uid=56652&link_uid=34800366">PubMed</a> </td>
|
||
</tr>
|
||
<tr>
|
||
<td headers="ont-proc">
|
||
<a href="http://amigo.geneontology.org/amigo/term/GO:0005739">is_active_in mitochondrion</a>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-evi-code-3">
|
||
<a class="jig-ncbipopper" href="http://geneontology.org/docs/guide-go-evidence-codes/" data-jigconfig="destSelector: '#evidence-code-6-2', hasArrow: true, openAnimation: 'none', closeAnimation: 'none', adjustFit: 'autoAdjust', triggerPosition: 'center right', destPosition: 'center left'"> IBA</a>
|
||
<div id="evidence-code-6-2" class="ecode">Inferred from Biological aspect of Ancestor<br /><a href="http://geneontology.org/docs/guide-go-evidence-codes/">more info</a></div>
|
||
</td>
|
||
<td headers="ont-evi-3 ont-pub-3"> </td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-general-protein-info">
|
||
<section class="rprt-section-header" id="general-protein-info">
|
||
<h2 id="header-general-protein-info">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-general-protein-info .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">General protein information</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.General_Protein_Information" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<dl>
|
||
<dt>Preferred Names</dt>
|
||
<dd>twinkle mtDNA helicase</dd>
|
||
</dl>
|
||
<dl>
|
||
<dt>Names</dt>
|
||
<dd>T7 gp4-like protein with intramitochondrial nucleoid localization</dd>
|
||
<dd>T7 helicase-related protein with intramitochondrial nucleoid localization</dd>
|
||
<dd>T7-like mitochondrial DNA helicase</dd>
|
||
<dd>ataxin 8</dd>
|
||
<dd>progressive external ophthalmoplegia 1 protein</dd>
|
||
<dd>twinkle protein, mitochondrial</dd>
|
||
</dl>
|
||
<dl>
|
||
<dt class="heading">NP_001157284.1</dt>
|
||
<dd>
|
||
<ul class="geneinfo-subsec">
|
||
<li>EC <a href="http://enzyme.expasy.org/EC/5.6.2.3">5.6.2.3</a></li>
|
||
</ul>
|
||
</dd>
|
||
</dl>
|
||
<dl>
|
||
<dt class="heading">NP_001157285.1</dt>
|
||
<dd>
|
||
<ul class="geneinfo-subsec">
|
||
<li>EC <a href="http://enzyme.expasy.org/EC/5.6.2.3">5.6.2.3</a></li>
|
||
</ul>
|
||
</dd>
|
||
</dl>
|
||
<dl>
|
||
<dt class="heading">NP_001157286.1</dt>
|
||
<dd>
|
||
<ul class="geneinfo-subsec">
|
||
<li>EC <a href="http://enzyme.expasy.org/EC/5.6.2.3">5.6.2.3</a></li>
|
||
</ul>
|
||
</dd>
|
||
</dl>
|
||
<dl>
|
||
<dt class="heading">NP_001355204.1</dt>
|
||
<dd>
|
||
<ul class="geneinfo-subsec">
|
||
<li>EC <a href="http://enzyme.expasy.org/EC/5.6.2.3">5.6.2.3</a></li>
|
||
</ul>
|
||
</dd>
|
||
</dl>
|
||
<dl>
|
||
<dt class="heading">NP_068602.2</dt>
|
||
<dd>
|
||
<ul class="geneinfo-subsec">
|
||
<li>EC <a href="http://enzyme.expasy.org/EC/5.6.2.3">5.6.2.3</a></li>
|
||
</ul>
|
||
</dd>
|
||
</dl>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="rprt-section gene-reference-sequences">
|
||
<section class="rprt-section-header" id="reference-sequences">
|
||
<h2 id="header-reference-sequences">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-reference-sequences .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">NCBI Reference Sequences (RefSeq)</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.NCBI_Reference_Sequences_RefS" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<p>
|
||
<span class="new-icon">NEW</span>
|
||
<strong>Try the new <a href="/datasets/tables/genes/?table_type=transcripts&ids=56652&utm_source=gene&utm_medium=referral&utm_campaign=refseq" title="View selected attributes for an input list of genes and download datasets containing genomic, transcript and protein sequences along with a detailed data report." data-ga-category="refseq" data-ga-action="click_datasets_link" data-ga-label="transcript_table">Transcript table</a></strong>
|
||
</p>
|
||
<h3 class="genomerefseqs gene_std_toggler" id="refseqset-independent">
|
||
<a class="jig-ncbitoggler-open">RefSeqs maintained independently of Annotated
|
||
Genomes</a>
|
||
</h3>
|
||
<div class="genomerefseqs_slave">
|
||
<p class="desc"> These reference sequences exist independently of genome builds. <a href="#refseq-expl" id="expl-refseg">Explain</a></p>
|
||
<p id="refseq-expl"> These reference sequences are curated independently of the genome
|
||
annotation cycle, so their versions may not match the RefSeq versions in the current
|
||
genome build. Identify version mismatches by comparing the version of the RefSeq in
|
||
this section to the one reported in <a href="#geneGenomic regions, transcripts, and products">Genomic regions,
|
||
transcripts, and products</a> above. </p>
|
||
<h4 id="genomic-p25713504">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NG_012624.1 RefSeqGene</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>5008..11868</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NG_012624.1?from=5008&to=11868&report=genbank" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NG_012624.1?from=5008&to=11868&report=genbank">GenBank</a>, <a href="/nuccore/NG_012624.1?from=5008&to=11868&report=fasta" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NG_012624.1?from=5008&to=11868&report=fasta">FASTA</a>, <a href="/nuccore/NG_012624.1?from=3978&to=12896&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NG_012624.1?from=3978&to=12896&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h4 id="mrnaandproteins-p140917904">mRNA and Protein(s) </h4>
|
||
<ol>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001163812.2">NM_001163812.2</a> → <a href="/protein/NP_001157284.1">NP_001157284.1</a> twinkle mtDNA helicase isoform B</p>
|
||
<p>
|
||
<a href="/ipg/NP_001157284.1/" ref="ncbi_uid=56652">See identical proteins and their annotated locations for NP_001157284.1</a>
|
||
</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which introduces a novel stop codon, compared to variant 1. The encoded protein (isoform B; also known as Twinky) has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AF292005, AK025485, AL133215, BC013349, DB090322">AF292005, AK025485, AL133215, BC013349, DB090322</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS53570.1">CCDS53570.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/Swiss-Prot</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/Q96RR1" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">Q96RR1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/Q9H6V3" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">Q9H6V3</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000359248.1" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENSP00000359248.1</a>, <a href="http://www.ensembl.org/id/ENST00000370228.2" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENST00000370228.2</a></dd>
|
||
<dt class="clear"> Conserved Domains (2) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001157284.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=173779">cd01029</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">259</span> → <span class="cddto">335</span></dt>
|
||
<dd class="clearfix"> TOPRIM_primases; TOPRIM_primases: The topoisomerase-primase (TORPIM) nucleotidyl transferase/hydrolase domain found in the active site regions of bacterial DnaG-type primases and their homologs. Primases synthesize RNA primers for the initiation of DNA replication. DnaG ...</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=304359">cl21455</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">374</span> → <span class="cddto">580</span></dt>
|
||
<dd class="clearfix"> P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001163813.2">NM_001163813.2</a> → <a href="/protein/NP_001157285.1">NP_001157285.1</a> twinkle mtDNA helicase isoform C</p>
|
||
<p>
|
||
<a href="/ipg/NP_001157285.1/" ref="ncbi_uid=56652">See identical proteins and their annotated locations for NP_001157285.1</a>
|
||
</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (3) uses an alternate splice site in exon 1 that results in the use of an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform C) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, compared to isoform A.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AK025485, AL133215, BQ643363, CB112401">AK025485, AL133215, BQ643363, CB112401</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS86136.1">CCDS86136.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A2R8Y4V4" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">A0A2R8Y4V4</a>, <a href="https://www.uniprot.org/uniprot/B4DLM7" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">B4DLM7</a></dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000494326.1" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENSP00000494326.1</a>, <a href="http://www.ensembl.org/id/ENST00000473656.5" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENST00000473656.5</a></dd>
|
||
<dt class="clear"> Conserved Domains (1) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001157285.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=410867">cd01122</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">1</span> → <span class="cddto">175</span></dt>
|
||
<dd class="clearfix"> Twinkle_C; C-terminal domain of Twinkle</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001163814.2">NM_001163814.2</a> → <a href="/protein/NP_001157286.1">NP_001157286.1</a> twinkle mtDNA helicase isoform D</p>
|
||
<p>
|
||
<a href="/ipg/NP_001157286.1/" ref="ncbi_uid=56652">See identical proteins and their annotated locations for NP_001157286.1</a>
|
||
</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (4) has multiple splice site differences, compared to variant 1. The encoded protein (isoform D) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, and has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AK025485, AL133215, CB112401">AK025485, AL133215, CB112401</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS86137.1">CCDS86137.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/A0A2R8Y746" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">A0A2R8Y746</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000496012.1" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENSP00000496012.1</a>, <a href="http://www.ensembl.org/id/ENST00000476766.5" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENST00000476766.5</a></dd>
|
||
<dt class="clear"> Conserved Domains (1) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001157286.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=393306">cl38936</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">1</span> → <span class="cddto">126</span></dt>
|
||
<dd class="clearfix"> P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_001368275.1">NM_001368275.1</a> → <a href="/protein/NP_001355204.1">NP_001355204.1</a> twinkle mtDNA helicase isoform C</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AL133215">AL133215</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS86136.1">CCDS86136.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/A0A2R8Y4V4" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">A0A2R8Y4V4</a>, <a href="https://www.uniprot.org/uniprot/B4DLM7" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">B4DLM7</a></dd>
|
||
<dt class="clear"> Conserved Domains (1) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_001355204.1">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=410867">cd01122</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">1</span> → <span class="cddto">175</span></dt>
|
||
<dd class="clearfix"> Twinkle_C; C-terminal domain of Twinkle</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NM_021830.5">NM_021830.5</a> → <a href="/protein/NP_068602.2">NP_068602.2</a> twinkle mtDNA helicase isoform A</p>
|
||
<p>
|
||
<a href="/ipg/NP_068602.2/" ref="ncbi_uid=56652">See identical proteins and their annotated locations for NP_068602.2</a>
|
||
</p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Description</dt>
|
||
<dd>Transcript Variant: This variant (1) encodes the longest isoform (A; also known as Twinkle).</dd>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AF292004, AK025485, AL133215, DB090322">AF292004, AK025485, AL133215, DB090322</a>
|
||
</dd>
|
||
<dt>Consensus CDS</dt>
|
||
<dd>
|
||
<a href="/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&GO=MainBrowse&DATA=CCDS7506.1">CCDS7506.1</a>
|
||
</dd>
|
||
<dt>UniProtKB/Swiss-Prot</dt>
|
||
<dd><a href="https://www.uniprot.org/uniprot/B2CQL2" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">B2CQL2</a>, <a href="https://www.uniprot.org/uniprot/Q6MZX2" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">Q6MZX2</a>, <a href="https://www.uniprot.org/uniprot/Q6PJP5" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">Q6PJP5</a>, <a href="https://www.uniprot.org/uniprot/Q96RR0" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">Q96RR0</a>, <a href="https://www.uniprot.org/uniprot/Q96RR1" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">Q96RR1</a></dd>
|
||
<dt>UniProtKB/TrEMBL</dt>
|
||
<dd>
|
||
<a href="https://www.uniprot.org/uniprot/E5KSY5" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">E5KSY5</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd><a href="http://www.ensembl.org/id/ENSP00000309595.2" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENSP00000309595.2</a>, <a href="http://www.ensembl.org/id/ENST00000311916.8" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENST00000311916.8</a></dd>
|
||
<dt class="clear"> Conserved Domains (2) <a href="/Structure/cdd/wrpsb.cgi?seqinput=NP_068602.2">summary</a></dt>
|
||
<dd>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=173779">cd01029</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">259</span> → <span class="cddto">335</span></dt>
|
||
<dd class="clearfix"> TOPRIM_primases; TOPRIM_primases: The topoisomerase-primase (TORPIM) nucleotidyl transferase/hydrolase domain found in the active site regions of bacterial DnaG-type primases and their homologs. Primases synthesize RNA primers for the initiation of DNA replication. DnaG ...</dd>
|
||
</dl>
|
||
<dl class="level2">
|
||
<dt><a href="/Structure/cdd/cddsrv.cgi?uid=238542">cd01122</a><br /><span class="cddlocation">Location:</span><span class="cddfrom">374</span> → <span class="cddto">632</span></dt>
|
||
<dd class="clearfix"> GP4d_helicase; GP4d_helicase is a homohexameric 5'-3' helicases. Helicases couple NTP hydrolysis to the unwinding of nucleic acid duplexes into their component strands.</dd>
|
||
</dl>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h4 id="rna-p24052256">RNA</h4>
|
||
<ol>
|
||
<li>
|
||
<p><a href="/nuccore/NR_160738.1">NR_160738.1</a> RNA Sequence </p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AL133215">AL133215</a>
|
||
</dd>
|
||
<dt>Related</dt>
|
||
<dd>
|
||
<a href="http://www.ensembl.org/id/ENST00000643860.1" ref="itool=Gene_FullReport&PrId=5380&uid=56652&nlmid=&db=gene">ENST00000643860.1</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NR_160739.1">NR_160739.1</a> RNA Sequence </p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AL133215">AL133215</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NR_160740.1">NR_160740.1</a> RNA Sequence </p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AL133215">AL133215</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NR_160741.1">NR_160741.1</a> RNA Sequence </p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AL133215">AL133215</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
<li>
|
||
<p><a href="/nuccore/NR_160742.1">NR_160742.1</a> RNA Sequence </p>
|
||
<p style="background:#fff; margin-top:1em;">Status: REVIEWED</p>
|
||
<dl>
|
||
<dt>Source sequence(s)</dt>
|
||
<dd class="wordwrap">
|
||
<a href="/nuccore/AL133215">AL133215</a>
|
||
</dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
</div>
|
||
<h3 class="genomerefseqs gene_std_toggler" id="annotatedrefseq-title">
|
||
<a class="jig-ncbitoggler-open">RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08</a>
|
||
</h3>
|
||
<div class="genomerefseqs_slave">
|
||
<p class="desc"> The following sections contain reference sequences that belong to a
|
||
specific genome build. <a href="#" id="expl-genomes">Explain</a></p>
|
||
<p id="expl-genomes-desc" style="display:none">This section includes genomic Reference
|
||
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
|
||
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
|
||
assemblies. Model RNAs and proteins are also reported here.</p>
|
||
<h3 id="refseq-sequencedescription-p106818096">Reference GRCh38.p14 Primary Assembly</h3>
|
||
<h4 id="genomic-p106818096">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NC_000010.11 Reference GRCh38.p14 Primary Assembly</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>100987543..100994403</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NC_000010.11?from=100987543&to=100994403&report=genbank" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_000010.11?from=100987543&to=100994403&report=genbank">GenBank</a>, <a href="/nuccore/NC_000010.11?from=100987543&to=100994403&report=fasta" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_000010.11?from=100987543&to=100994403&report=fasta">FASTA</a>, <a href="/nuccore/NC_000010.11?from=100986513&to=100995431&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_000010.11?from=100986513&to=100995431&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
<h3 id="refseq-sequencedescription-p116994992">Alternate T2T-CHM13v2.0</h3>
|
||
<h4 id="genomic-p116994992">Genomic </h4>
|
||
<ol>
|
||
<li>
|
||
<p>NC_060934.1 Alternate T2T-CHM13v2.0</p>
|
||
<dl>
|
||
<dt>Range</dt>
|
||
<dd class="rs-range">
|
||
<span>101870918..101877778</span>
|
||
</dd>
|
||
<dt>Download</dt>
|
||
<dd><a href="/nuccore/NC_060934.1?from=101870918&to=101877778&report=genbank" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_060934.1?from=101870918&to=101877778&report=genbank">GenBank</a>, <a href="/nuccore/NC_060934.1?from=101870918&to=101877778&report=fasta" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_060934.1?from=101870918&to=101877778&report=fasta">FASTA</a>, <a href="/nuccore/NC_060934.1?from=101869888&to=101878806&report=graph&content=5" ref="ordinalpos=1&ncbi_uid=56652&link_uid=NC_060934.1?from=101869888&to=101878806&report=graph&content=5">Sequence Viewer (Graphics)</a></dd>
|
||
</dl>
|
||
</li>
|
||
</ol>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-related-sequences">
|
||
<section class="rprt-section-header" id="related-sequences">
|
||
<h2 id="header-related-sequences">
|
||
<a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-related-sequences .rprt-section-body'">
|
||
<span class="ui-ncbitoggler-master-text">Related sequences</span>
|
||
</a>
|
||
</h2>
|
||
<div class="rprt-section-tools">
|
||
<a href="#top" title="Go to the top of the page" class="gene-top-page">
|
||
<span>Go to the top of the page</span>
|
||
</a>
|
||
<a href="/books/NBK3841/#EntrezGene.Related_Sequences" title="Help" class="gene-section-help">
|
||
<span>Help</span>
|
||
</a>
|
||
</div>
|
||
</section>
|
||
<div class="rprt-section-body">
|
||
<div>
|
||
<table id="proteinTblId" class="jig-ncbiservergrid" data-jigconfig="webservice:'/gene/56652/data/related-sequences/',webserviceParams: 'p$l=Ajax', isServersideLoad:true, isServersidePaging: true,isServersidePagingCached: true,pageSize:25">
|
||
<thead>
|
||
<tr>
|
||
<th colspan="2" id="rs-nucleo">Nucleotide</th>
|
||
<th rowspan="2" id="rs-protein">Protein</th>
|
||
</tr>
|
||
<tr>
|
||
<th id="rs-heading">Heading</th>
|
||
<th id="rs-heading-acc">Accession and Version</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody></tbody>
|
||
</table>
|
||
<table id="proteinTblId" class="jig-ncbigrid" data-jigconfig="isPageable:true, pageSize:25">
|
||
<thead>
|
||
<tr>
|
||
<th class="proteinTblTh" rowspan="2" id="rs-prot-acc">Protein Accession</th>
|
||
<th class="proteinTblTh" colspan="2" id="rs-link">Links</th>
|
||
</tr>
|
||
<tr>
|
||
<th id="rs-genepept">GenPept Link</th>
|
||
<th id="rs-uniprot">UniProtKB Link</th>
|
||
</tr>
|
||
</thead>
|
||
<tbody>
|
||
<tr>
|
||
<td headers="rs-prot-acc">Q96RR1.1</td>
|
||
<td headers="rs-link rs-genepept">
|
||
<a href="/protein/74752111" ref="ordinalpos=1&ncbi_uid=56652&link_uid=74752111">GenPept</a>
|
||
</td>
|
||
<td>
|
||
<a href="https://www.uniprot.org/uniprot/Q96RR1">UniProtKB/Swiss-Prot:Q96RR1</a>
|
||
</td>
|
||
</tr>
|
||
</tbody>
|
||
</table>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="rprt-section gene-additional-links">
|
||
|
||
<section class="rprt-section-header" id="additional-links"><h2 id="header-additional-links"><a href="#" class="jig-ncbitoggler-open" data-jigconfig="targets: '.gene-additional-links .rprt-section-body'"><span class="ui-ncbitoggler-master-text">Additional links</span></a></h2><div class="rprt-section-tools"><a href="#top" title="Go to the top of the page" class="gene-top-page"><span>Go to the top of the page</span></a><a href="/books/NBK3841/#EntrezGene.Additional_Links" title="Help" class="gene-section-help"><span>Help</span></a></div></section>
|
||
|
||
<div class="rprt-section-body" style="">
|
||
|
||
|
||
<h3 class="withnote" id="genelinkout">
|
||
<a class="jig-ncbitoggler">Gene LinkOut</a>
|
||
</h3><div>
|
||
<p>The following <a href="https://www.ncbi.nlm.nih.gov/projects/linkout/index.html">LinkOut</a> resources are supplied by external providers. These providers are responsible for maintaining the links. </p>
|
||
<div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Other Literature Sources</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>Dryad Digital Repository</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://datadryad.org/stash/dataset/doi:10.5061/dryad.9w0vt4bhj" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7893">
|
||
<span>Dryad Digital Repository</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Chemical Information</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>Interologous Interaction Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://ophid.utoronto.ca/redirect/ncbi/human?proteins=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7911">
|
||
<span>Interologous Interaction Database</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Medical</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>MedlinePlus Health Information</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://medlineplus.gov/genetics/gene/twnk" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=3162">
|
||
<span>TWNK gene</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Molecular Biology Databases</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>Bgee database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.bgee.org/gene/ENSG00000107815" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=10418">
|
||
<span>TWNK gene expression</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>BioGPS</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://biogps.org/gene/56652/" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=5059">
|
||
<span>BioGPS</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>BioGRID Open Repository of CRISPR Screens (ORCS)</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://orcs.thebiogrid.org/Gene/56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=10164">
|
||
<span>BioGRID CRISPR Screen Phenotypes (379 hits/1345 screens)</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>CTD: Comparative Toxicogenomics Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://ctdbase.org/detail.go?type=gene&acc=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7845">
|
||
<span>CTD: Comparative Toxicogenomics Database - TWNK</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Domain Mapping of Disease Mutations</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://bioinf.umbc.edu/DMDM/gene_prot_page.php?id=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7642">
|
||
<span>PEO1</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Eukaryotic Promoter Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://epd.vital-it.ch/cgi-bin/get_doc?db=hgEpdNew&format=genome&entry=C10orf2_1" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=9624">
|
||
<span>C10orf2_1</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>GlyGen glycoinformatics resource</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://glygen.org/protein/Q96RR1" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=10227">
|
||
<span>GlyGen glycoinformatics resource</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span><span class="regis-rsc"></span>Human Gene Mutation Database</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=C10orf2" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=3100">
|
||
<span>Human Gene Mutation Database</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Human eFP Browser</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://bar.utoronto.ca/efp_human/cgi-bin/efpWeb.cgi?dataSource=Skeletal_Immune_Digestive&modeInput=Absolute&primaryGene=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8875">
|
||
<span>Human eFP Browser</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="http://bar.utoronto.ca/efp_human/cgi-bin/efpWeb.cgi?dataSource=Nervous&modeInput=Absolute&primaryGene=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8875">
|
||
<span>Human eFP Browser</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="http://bar.utoronto.ca/efp_human/cgi-bin/efpWeb.cgi?dataSource=Circulatory_Respiratory&modeInput=Absolute&primaryGene=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8875">
|
||
<span>Human eFP Browser</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li>Ingenuity Pathways Analysis</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://partnersolution.ingenuity.com/?cid=97ae3f91eab87a&p1=Entrez&p2=GV&s=&ipaUri=%2Fpa%2Fapi%2Fv2%2Fgeneview%3Fapplicationname%3DEntrez%26geneId%3D56652%26geneidtype%3Dentrezgene" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=5628">
|
||
<span>Ingenuity Pathways Analysis</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>InnateDB</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.innatedb.com/getGeneCard.do?id=86825" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7894">
|
||
<span>InnateDB</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>InterMine</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.humanmine.org/humanmine/search?keyword=ENSG00000107815" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=9169">
|
||
<span>InterMine</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>Kyoto Encyclopedia of Genes and Genomes</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.genome.jp/dbget-bin/www_bget?hsa:56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=5174">
|
||
<span>Kyoto Encyclopedia of Genes and Genomes</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>OMA Browser: Orthologous MAtrix</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://omabrowser.org/oma/info/HUMAN02554/" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=9822">
|
||
<span>OMA Browser: Orthologous MAtrix</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://omabrowser.org/oma/info/HUMAN02556/" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=9822">
|
||
<span>OMA Browser: Orthologous MAtrix</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://omabrowser.org/oma/info/HUMAN02555/" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=9822">
|
||
<span>OMA Browser: Orthologous MAtrix</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>OrthoDB catalog of orthologs</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.orthodb.org/?ncbi=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8178">
|
||
<span>Orthologs</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>PhosphoSitePlus</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.phosphosite.org/entrezGeneIdAction.action?id=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7987">
|
||
<span>PhosphoSitePlus® - comprehensive post-translational modification resource</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>The Gene Wiki</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://en.wikipedia.org/wiki/PEO1" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=6933">
|
||
<span>The Gene Wiki</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="free-rsc"></span>The Weizmann Institute of Science GeneCards and MalaCards databases</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=TWNK" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8598">
|
||
<span>GeneCard for TWNK</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Research Materials</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="order-rsc"></span>Addgene Non-profit plasmid repository</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://addgene.org//browse/gene/56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=5304">
|
||
<span>Get Plasmids - Addgene</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>Bio-Techne</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.bio-techne.com/t/peo1/lysates?utm_source=linkout&utm_medium=referral&utm_campaign=product&utm_term=lysates" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8242">
|
||
<span>PEO1 Lysates</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.bio-techne.com/t/peo1/antibodies?utm_source=linkout&utm_medium=referral&utm_campaign=product&utm_term=antibodies" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8242">
|
||
<span>PEO1 Antibodies</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.bio-techne.com/t/peo1/proteins-enzymes?utm_source=linkout&utm_medium=referral&utm_campaign=product&utm_term=proteins" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8242">
|
||
<span>PEO1 Proteins</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>Creative Biogene</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.creative-biogene.com/genesearch/C10orf2.html" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=10094">
|
||
<span>chromosome 10 open reading frame 2</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li>ExactAntigen/Labome</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.labome.com/review/gene/human/TWNK-antibody.html" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=5753">
|
||
<span>reagent review</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.labome.com/gene/human/TWNK-antibody.html" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=5753">
|
||
<span>reagents</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>GenScript latest version of gene cDNA ORF Clone</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://www.genscript.com/gene/56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=8012">
|
||
<span>GenScript latest version of gene cDNA ORF Clone</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>GeneCopoeia Inc.</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecopoeia.com/product/search/result.php?prt=22&field=5&key=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7255">
|
||
<span>Order promoter clone</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecopoeia.com/product/search/result.php?prt=11&field=5&key=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7255">
|
||
<span>Order shRNA clones</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.genecopoeia.com/product/search/result.php?prt=1&field=5&key=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7255">
|
||
<span>Order full-length ORF clone</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
<li><span class="order-rsc"></span>OriGene</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://www.origene.com/search?q=C10orf2" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7994">
|
||
<span>Order C10orf2 cDNA clone/Protein/Antibody/RNAi</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.origene.com/search?q=Twnk" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7994">
|
||
<span>Order Twnk cDNA clone/Protein/Antibody/RNAi</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://www.origene.com/search?q=Peo1" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7994">
|
||
<span>Order Peo1 cDNA clone/Protein/Antibody/RNAi</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open main">
|
||
<span>Tools</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>GeneMANIA</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="http://genemania.org/link?o=9606&g=56652" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=7529">
|
||
<span>GeneMANIA</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
<div class="linkout">
|
||
<a class="jig-ncbitoggler-open">
|
||
<span>Miscellaneous</span>
|
||
</a>
|
||
<ul>
|
||
<li><span class="free-rsc"></span>Reactome</li>
|
||
<ul>
|
||
<li>
|
||
<a target="_blank" href="https://reactome.org/PathwayBrowser/#/R-HSA-69306" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=4914">
|
||
<span>Reactome Event:DNA Replication</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://reactome.org/PathwayBrowser/#/R-HSA-1852241" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=4914">
|
||
<span>Reactome Event:Organelle biogenesis and maintenance</span>
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a target="_blank" href="https://reactome.org/PathwayBrowser/#/R-HSA-392499" ref="itool=Gene_FullReport&uid=56652&nlmid=&db=gene&log$=linkoutlink&PrId=4914">
|
||
<span>Reactome Event:Metabolism of proteins</span>
|
||
</a>
|
||
</li>
|
||
</ul>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="urls-in-genombrowser" style="display:none">
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div><input type="hidden" class="section_status_input" name="status_checked" id="status_checked" value="" /><input type="hidden" class="section_status_input" name="status_open" id="status_open" value="summary,region,context,bibliography,phenotypes,variation,hiv,interactions,pathways,geneInfo,proteinInfo,refSeq,related,links" /><input type="hidden" class="section_status_input" name="status_exist" id="status_exist" value="summary,context,region,expression,bibliography,phenotypes,variation,,interactions,geneInfo,proteinInfo,refSeq,related,links" /><input type="hidden" class="section_status_input" name="status_closed" id="status_closed" value="" /><meta name="status_checked" content="" class="meta_section_status" /><meta name="status_open" content="summary,region,context,bibliography,phenotypes,variation,hiv,interactions,pathways,geneInfo,proteinInfo,refSeq,related,links" class="meta_section_status" /><meta name="status_exist" content="summary,context,region,expression,bibliography,phenotypes,variation,,interactions,geneInfo,proteinInfo,refSeq,related,links" class="meta_section_status" /><meta name="status_closed" content="" class="meta_section_status" /><script type="text/javascript">
|
||
|
||
var section_status_meta = {
|
||
'status_checked': '',
|
||
'status_open': 'summary,region,context,bibliography,phenotypes,variation,hiv,interactions,pathways,geneInfo,proteinInfo,refSeq,related,links',
|
||
'status_exist': 'summary,context,region,expression,bibliography,phenotypes,variation,,interactions,geneInfo,proteinInfo,refSeq,related,links',
|
||
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|
||
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|
||
|
||
|
||
/*
|
||
for (var o in section_status_meta) {
|
||
var meta=document.createElement('meta');
|
||
meta.name = o;
|
||
meta.content = section_status_meta[o];
|
||
var attr = document.createAttribute('data-ignore-limit');
|
||
attr.value = 'true';
|
||
meta.setAttributeNode(attr);
|
||
document.getElementsByTagName('head')[0].appendChild(meta);
|
||
}
|
||
*/
|
||
|
||
|
||
var __ncbi_sg_pingCallbacks_render_gene = function (data, evtObj, type) {
|
||
// data looks like {jsevent: "click", "link_id": "foo", ...}
|
||
// evtObj is the JS event object
|
||
// type is either "stat" (for applog) or "ga"
|
||
var extraData = {};
|
||
if (type == "stat") {
|
||
for (var o in section_status_meta) {
|
||
extraData[o] = section_status_meta[o];
|
||
}
|
||
|
||
return extraData;
|
||
|
||
}
|
||
}
|
||
|
||
|
||
</script></div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last" id="sidebar_tabular">
|
||
<!-- sidebar close/hide button-->
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|
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<a href="#" id="sidecontent_2_pullout" style="float:right;" class="sidecontentpullout_local collapse_button"><span>Hide sidebar >></span></a>
|
||
</div>
|
||
<!-- end sidebar close/hide button-->
|
||
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div id="gene-sidebar">
|
||
<div>
|
||
<div class="portlet brieflink dis-table-of-contents">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Table of contents</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_TableOfContents.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_TableOfContents" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_TableOfContents.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li class="">
|
||
<a href="#summary">Summary</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#genomic-context">Genomic context</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#genomic-regions-transcripts-products">Genomic regions, transcripts, and products</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#gene-expression">Expression</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#bibliography">Bibliography</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#phenotypes">Phenotypes</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#variation">Variation</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#pathways">Pathways from PubChem</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#interactions">Interactions</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#general-gene-info">General gene information</a>
|
||
<div class="subsection-links"><a href="#gene-markers">Markers</a>, <a href="#CloneNames">Clone Names</a>, <a href="#homology">Homology</a>, <a href="#gene-ontology">Gene Ontology</a></div>
|
||
</li>
|
||
<li class="">
|
||
<a href="#general-protein-info">General protein information</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#reference-sequences">NCBI Reference Sequences (RefSeq)</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#related-sequences">Related sequences</a>
|
||
</li>
|
||
<li class="">
|
||
<a href="#additional-links">Additional links</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-genomesbrowser brieflink dis-genomesbrowser">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Genome Browsers</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GenomeBrowsers.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_GenomeBrowsers" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GenomeBrowsers.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="#">Loading...</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet dis-related-info brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedInformation.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedInformation.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clone/order/gene/56652" ref="log$=recordlinks">Order cDNA clone</a>
|
||
<div class="brieflinkpop offscreen_noflow">Order cDNA clone</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_alltarget_list&from_uid=56652" ref="log$=recordlinks">BioAssay by Target (List)</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioAssays related to the gene by protein target or RNAi target</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="//pubchem.ncbi.nlm.nih.gov/assay/bioactivity.html?geneid=56652" ref="log$=recordlinks">BioAssay by Target (Summary)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Summarized PubChem Data on the gene, showing the active data by default</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_target&from_uid=56652" ref="log$=recordlinks">BioAssay, by Gene target</a>
|
||
<div class="brieflinkpop offscreen_noflow">PubChem BioAssays done on the Gene target</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_rnai_active&from_uid=56652" ref="log$=recordlinks">BioAssays, RNAi Target, Active</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioAssays that contain the gene as the target of a RNAi reagent, which is identified as a hit in a RNAi screening and flagged as "active" in the corresponding BioAssay record</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcassay?LinkName=gene_pcassay_rnai&from_uid=56652" ref="log$=recordlinks">BioAssays, RNAi Target, Tested</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioAssays that contain the gene as the target of a RNAi reagent</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/bioproject?LinkName=gene_bioproject&from_uid=56652" ref="log$=recordlinks">BioProjects</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioProjects related to a gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/biosystems?LinkName=gene_biosystems&from_uid=56652" ref="log$=recordlinks">BioSystems</a>
|
||
<div class="brieflinkpop offscreen_noflow">BioSystems</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=gene_books&from_uid=56652" ref="log$=recordlinks">Books</a>
|
||
<div class="brieflinkpop offscreen_noflow">Books</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/CCDS/CcdsBrowse.cgi?REQUEST=GENEID&DATA=56652" ref="log$=recordlinks">CCDS</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to CCDS</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=gene_clinvar&from_uid=56652" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/cdd?LinkName=gene_cdd&from_uid=56652" ref="log$=recordlinks">Conserved Domains</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related CDD</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/dbvar?LinkName=gene_dbvar&from_uid=56652" ref="log$=recordlinks">dbVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link from Gene to dbVar</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=gene_pmc&from_uid=56652" ref="log$=recordlinks">Full text in PMC</a>
|
||
<div class="brieflinkpop offscreen_noflow">PMC links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=gene_pmc_nucleotide&from_uid=56652" ref="log$=recordlinks">Full text in PMC_nucleotide</a>
|
||
<div class="brieflinkpop offscreen_noflow">Full text in PubMedCentral identified from shared sequence links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/sparcle?LinkName=gene_sparcle&from_uid=56652" ref="log$=recordlinks">Functional Class</a>
|
||
<div class="brieflinkpop offscreen_noflow">Functional class of the sequence domain architecture</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=gene_gene_neighbors&from_uid=56652" ref="log$=recordlinks">Gene neighbors</a>
|
||
<div class="brieflinkpop offscreen_noflow">Overlapping genes and two nearest non-overlapping genes on either side</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=gene_gene_h3k4me3&from_uid=56652" ref="log$=recordlinks">Genes with a similar H3K4me3 profile</a>
|
||
<div class="brieflinkpop offscreen_noflow">Genes with a similar profile of promoter-activating H3K4me3 modifications across several tissue types</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/genome?LinkName=gene_genome&from_uid=56652" ref="log$=recordlinks">Genome</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Genome</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/geoprofiles?LinkName=gene_geoprofiles&from_uid=56652" ref="log$=recordlinks">GEO Profiles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related GEO</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests/?term=56652[geneid]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Tests for this gene in the NIH Genetic Testing Registry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/homologene?LinkName=gene_homologene&from_uid=56652" ref="log$=recordlinks">HomoloGene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related HomoloGene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/medgen?LinkName=gene_medgen_diseases&from_uid=56652" ref="log$=recordlinks">MedGen</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/nuccore?LinkName=gene_nuccore&from_uid=56652" ref="log$=recordlinks">Nucleotide</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related Nucleotide entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=gene_omim&from_uid=56652" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related OMIM entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/probe?LinkName=gene_probe&from_uid=56652" ref="log$=recordlinks">Probe</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Probe entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/protein?LinkName=gene_protein&from_uid=56652" ref="log$=recordlinks">Protein</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related protein entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pccompound?LinkName=gene_pccompound&from_uid=56652" ref="log$=recordlinks">PubChem Compound</a>
|
||
<div class="brieflinkpop offscreen_noflow">PubChem Compounds</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pcsubstance?LinkName=gene_pcsubstance&from_uid=56652" ref="log$=recordlinks">PubChem Substance</a>
|
||
<div class="brieflinkpop offscreen_noflow">PubChem Substances</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed&from_uid=56652" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related PubMed entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed_rif&from_uid=56652" ref="log$=recordlinks">PubMed (GeneRIF)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related PubMed article from GeneRIFs</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed_citedinomim&from_uid=56652" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Gene links to PubMed derived from omim_pubmed_cited links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=gene_pubmed_pmc_nucleotide&from_uid=56652" ref="log$=recordlinks">PubMed(nucleotide/PMC)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Citations in PubMed identified from shared sequence and PMC links.</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/protein?LinkName=gene_protein_refseq&from_uid=56652" ref="log$=recordlinks">RefSeq Proteins</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to Protein RefSeqs</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/nuccore?LinkName=gene_nuccore_refseqrna&from_uid=56652" ref="log$=recordlinks">RefSeq RNAs</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to Nucleotide RefSeq RNAs</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/nuccore/255918082?report=graph" ref="log$=recordlinks">RefSeqGene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to Nucleotide RefSeqGenes</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=gene_clinvar_specific&from_uid=56652" ref="log$=recordlinks">Related gene-specific medical variations</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/snp?LinkName=gene_snp&from_uid=56652" ref="log$=recordlinks">SNP</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related SNP records</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/taxonomy?LinkName=gene_taxonomy&from_uid=56652" ref="log$=recordlinks">Taxonomy</a>
|
||
<div class="brieflinkpop offscreen_noflow">Link to related taxonomy entry</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/variation/view/?q=56652[geneid]" ref="log$=recordlinks">Variation Viewer</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Variants</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet dis-links-to-other-res brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Links to other resources</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_LinksTwo.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_LinksTwo" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_LinksTwo.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1160">HGNC</a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.ensembl.org/id/ENSG00000107815">Ensembl</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.alliancegenome.org/gene/HGNC:1160">AllianceGenome</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?c=geneid&org=9606&l=56652">AceView</a>
|
||
</li>
|
||
<li>
|
||
<a href="http://genome.ucsc.edu/cgi-bin/hgTracks?org=human&position=NR_160738">UCSC</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://genecollections.nci.nih.gov/MGC/?ORG=Hs&LIST=BC033762">MGC</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://phgkb.cdc.gov/PHGKB/huGEPedia.action?firstQuery=TWNK&geneID=56652&typeOption=gene&which=2&pubOrderType=pubD&typeSubmit=GO&check=y">HuGE Navigator</a>
|
||
</li>
|
||
<li>
|
||
<a href="http://www.genome.jp/dbget-bin/www_bget?hsa:56652">KEGG</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-general-info">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>General information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GeneralInfo.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_GeneralInfo" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_GeneralInfo.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pmc/?term=PMC4383897+OR+PMC3013746+OR+PMC1761442+OR+PMC539985">About Gene</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK3840">FAQ</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://ftp.ncbi.nlm.nih.gov/gene/">FTP site</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK3841/">Help</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK3842/">My NCBI help</a>
|
||
</li>
|
||
<li>
|
||
<a href="/books/NBK21085/">NCBI Handbook</a>
|
||
</li>
|
||
<li>
|
||
<a href="/gene/statistics/">Statistics</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="portlet brieflink dis-related-sites">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related sites</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedSites.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Gene_RelatedSites" id="EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVFullReport.Gene_RightColumn.Gene_RelatedSites.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/BLAST">BLAST</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome">Genome</a>
|
||
</li>
|
||
<li>
|
||
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d50d5b84f3725e59f1b99b">TWNK twinkle mtDNA helicase [Homo sapiens]</a>
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<div class="ralinkpop offscreen_noflow">Homo sapiens twinkle mtDNA helicase (TWNK), transcript variant 2, mRNA<div class="brieflinkpopdesc">gi|1675138549|ref|NM_001163812.2|</div></div>
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<div class="ralinkpop offscreen_noflow">Homo sapiens twinkle mtDNA helicase (TWNK), RefSeqGene on chromosome 10<div class="brieflinkpopdesc">gi|255918082|ref|NG_012624.1|</div></div>
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<div class="ralinkpop offscreen_noflow">Table 9. [HSD17B4 Pathogenic Variants Discussed in This GeneReview]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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<p class="address_footer text-white">National Library of Medicine<br />
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<div class="col-lg-3 col-12 centered-lg">
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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