3114 lines
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- *611360 - FANCI GENE; FANCI
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- OMIM
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<p>
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<span class="h4">*611360</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611360">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000140525;t=ENST00000310775" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=55215" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611360" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000140525;t=ENST00000310775" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001113378,NM_001376910,NM_001376911,NM_018193,XM_011521756,XM_011521764,XM_047432789,XM_047432790,XM_047432791,XM_047432792,XM_047432793,XM_047432794,XM_047432795,XM_047432796,XM_047432797,XM_047432798,XM_047432799,XM_047432800,XM_047432801,XM_047432802,XM_047432803,XM_047432804,XM_047432805,XM_047432806,XM_047432807,XM_047432808,XM_047432809,XM_047432810,XM_047432811,XM_047432812,XM_047432813,XM_047432814,XM_047432815,XM_047432816,XM_047432817,XM_047432818,XM_047432819,XM_047432820,XM_047432821,XM_047432822,XM_047432823,XM_047432824,XM_047432825,XM_047432826,XM_047432827,XM_047432828,XM_047432829,XM_047432830,XM_047432831,XM_047432832,XM_047432833" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001113378" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611360" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=13339&isoform_id=13339_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/FANCI" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/7022923,13279101,14017805,14042328,82830440,119622444,119622445,119622446,119622447,119622448,119622449,145616984,148372326,164607124,187954505,193786197,212276518,219519668,767984642,767984658,1778193462,1778193472,2217301918,2217301920,2217301922,2217301924,2217301926,2217301928,2217301930,2217301932,2217301934,2217301936,2217301938,2217301940,2217301942,2217301944,2217301946,2217301948,2217301950,2217301952,2217301954,2217301956,2217301958,2217301960,2217301962,2217301964,2217301967,2217301969,2217301971,2217301973,2217301975,2217301977,2217301979,2217301981,2217301983,2217301985,2217301987,2217301989,2217301991,2217301993,2217301995,2217301997,2217301999,2217302001,2217302003,2217302005,2217302007,2462544986,2462544988,2462544990,2462544992,2462544994,2462544996,2462544998,2462545000,2462545002,2462545004,2462545006,2462545008,2462545010,2462545012,2462545014,2462545016,2462545018,2462545020,2462545022,2462545024,2462545026,2462545028,2462545030,2462545032,2462545034,2462545036,2462545038,2462545040,2462545042,2462545044,2462545046,2462545048,2462545050,2462545052,2462545054,2462545056,2462545058,2462545060,2462545062,2462545064,2462545066,2462545068,2462545070,2462545072,2462545074,2462545076,2462545078" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9NVI1" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=55215" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000140525;t=ENST00000310775" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=FANCI" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=FANCI" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+55215" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/FANCI" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:55215" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/55215" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr15&hgg_gene=ENST00000310775.12&hgg_start=89243979&hgg_end=89317259&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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|
<div style="display: table-cell;">Clinical Resources</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25568" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:25568" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611360[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611360[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/FANCI/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000140525" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=FANCI" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=FANCI" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=FANCI" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.rockefeller.edu/fanconi/mutate/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=FANCI&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA162387928" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:25568" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0033354.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2384790" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/FANCI#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2384790" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/55215/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA000151/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=55215" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-2905" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55215" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=FANCI&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
611360
|
|
</span>
|
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</span>
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</div>
|
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</div>
|
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
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FANCI GENE; FANCI
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
KIAA1794
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FANCI" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FANCI</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/497?start=-3&limit=10&highlight=497">15q26.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:89243979-89317259&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:89,243,979-89,317,259</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/497?start=-3&limit=10&highlight=497">
|
|
15q26.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Fanconi anemia, complementation group I
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/609053"> 609053 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<p>FANCI, a monoubiquitinated paralog of FANCD2 (<a href="/entry/227646">227646</a>), belongs to the Fanconi anemia (FA; see <a href="/entry/227650">227650</a>) DNA interstrand cross-link repair pathway and is required for resistance to mitomycin C (<a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al., 2007</a>; <a href="#7" class="mim-tip-reference" title="Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T. <strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong> Nature Struct. Molec. Biol. 14: 564-567, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460694</a>] [<a href="https://doi.org/10.1038/nsmb1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460694">Sims et al., 2007</a>; <a href="#8" class="mim-tip-reference" title="Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J. <strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong> Cell 129: 289-301, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412408[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412408">Smogorzewska et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17452773+17460694+17412408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By screening a fetal brain cDNA library for cDNAs encoding large proteins, <a href="#6" class="mim-tip-reference" title="Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 8: 85-95, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>] [<a href="https://doi.org/10.1093/dnares/8.2.85" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11347906">Nagase et al. (2001)</a> cloned FANCI, which they called KIAA1794. The predicted protein contains 802 amino acids. RT-PCR ELISA detected moderate expression in testis and fetal liver and low expression in lung, liver, spleen, ovary, and adult and fetal brain. Expression was very low or undetectable in all other tissues tested. Expression was low in all specific brain regions examined, with slightly higher expression in cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By linkage and bioinformatic analyses to identify the gene underlying FA complementation group I (<a href="/entry/609053">609053</a>), <a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> identified FANCI. The predicted FANCI protein contains 1,328 amino acids and has a calculated molecular mass of 146 kD. It has 3 nuclear localization signals and 3 ATM (<a href="/entry/607585">607585</a>)/ATR (<a href="/entry/601215">601215</a>) phosphorylation motifs. Western blot analysis revealed a 150-kD endogenous FANCI protein in lymphoblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17452773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching databases for homologs of FANCD2, <a href="#7" class="mim-tip-reference" title="Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T. <strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong> Nature Struct. Molec. Biol. 14: 564-567, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460694</a>] [<a href="https://doi.org/10.1038/nsmb1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460694">Sims et al. (2007)</a> identified FANCI. Like FANCD2, FANCI contains a conserved monoubiquitination site, and the 2 proteins share about 40% similarity in the region surrounding the site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17460694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a proteomic screen to identify ATM and ATR kinase substrates and a DNA damage sensitivity screen, followed by screening a lymphocyte cDNA library, <a href="#8" class="mim-tip-reference" title="Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J. <strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong> Cell 129: 289-301, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412408[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412408">Smogorzewska et al. (2007)</a> cloned FANCI. FANCI contains 3 phosphorylation sites and a monoubiquitination site, lys523, homologous to the lys561 monoubiquitination site of FANCD2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17412408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> found that knockdown of FANCI expression by small interfering RNA (siRNA) in HeLa cells caused excessive chromosomal breakage induced by mitomycin C, a hallmark of FA cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17452773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T. <strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong> Nature Struct. Molec. Biol. 14: 564-567, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460694</a>] [<a href="https://doi.org/10.1038/nsmb1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460694">Sims et al. (2007)</a> found that FANCI was monoubiquitinated in a FANCD2-dependent manner and localized to nuclear foci following treatment of HeLa cells with DNA-damaging agents. Cell fractionation and immunoblot analysis showed that most monoubiquitinated FANCI was associated with chromatin in the nuclear fraction. Treatment of HeLa cells with siRNA to FANCI or FANCD2 resulted in sensitivity to mitomycin C. <a href="#7" class="mim-tip-reference" title="Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T. <strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong> Nature Struct. Molec. Biol. 14: 564-567, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460694</a>] [<a href="https://doi.org/10.1038/nsmb1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460694">Sims et al. (2007)</a> concluded that FANCI behaves as a functional homolog of FANCD2 in the coordination and repair of DNA cross-links. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17460694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J. <strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong> Cell 129: 289-301, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412408[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412408">Smogorzewska et al. (2007)</a> found that treatment of U2OS cells with siRNA against FANCI abrogated the G2/M cell cycle checkpoint. FANCI localized to damage-induced foci in multiple cell types, and FANCI formed a complex with FANCD2 that was required for localization of FANCD2 to damage-induced foci. Mitomycin C treatment induced monoubiquitination of FANCI at lys523, and monoubiquitination of FANCI in the absence of DNA damage was also detectable during S phase. Mutation analysis showed that lys523 was critical for FANCI monoubiquitination. Ubiquitination of FANCI was dependent on FANCA (<a href="/entry/607139">607139</a>), and FANCI and FANCD2 showed reciprocal ubiquitination dependencies. <a href="#8" class="mim-tip-reference" title="Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J. <strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong> Cell 129: 289-301, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412408[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412408">Smogorzewska et al. (2007)</a> concluded that FANCI is a FANCD2 paralog required for DNA cross-link repair, that it is monoubiquitinated, and that FANCI and FANCD2 form an interdependent complex required for ubiquitination and chromatin association. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17412408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Knipscheer, P., Raschle, M., Smogorzewska, A., Enoiu, M., Ho, T. V., Scharer, O. D., Elledge, S. J., Walter, J. C. <strong>The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.</strong> Science 326: 1698-1701, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19965384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19965384</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19965384[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1182372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19965384">Knipscheer et al. (2009)</a> used a cell-free system to demonstrate that FANCI-FANCD2 (<a href="/entry/227646">227646</a>) is required for replication-coupled interstrand crosslink repair in S phase. Removal of FANCD2 from extracts inhibited both nucleolytic incisions near the interstrand crosslink and translesion DNA synthesis past the lesion. Reversal of these defects required ubiquitylated FANCI-FANCD2. <a href="#3" class="mim-tip-reference" title="Knipscheer, P., Raschle, M., Smogorzewska, A., Enoiu, M., Ho, T. V., Scharer, O. D., Elledge, S. J., Walter, J. C. <strong>The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.</strong> Science 326: 1698-1701, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19965384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19965384</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19965384[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1182372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19965384">Knipscheer et al. (2009)</a> concluded that multiple steps of the essential S phase interstrand crosslink repair mechanism fail when the Fanconi anemia pathway is compromised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19965384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A central event in the Fanconi pathway is monoubiquitylation of the FANCI-FANCD2 protein complex. <a href="#4" class="mim-tip-reference" title="Liu, T., Ghosal, G., Yuan, J., Chen, J., Huang, J. <strong>FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.</strong> Science 329: 693-696, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671156</a>] [<a href="https://doi.org/10.1126/science.1192656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671156">Liu et al. (2010)</a> characterized the Fanconi anemia-associated nuclease FAN1 (<a href="/entry/613534">613534</a>), which promotes interstrand crosslink repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on monoubiquitylation of the FANCI-FAND2 complex. <a href="#4" class="mim-tip-reference" title="Liu, T., Ghosal, G., Yuan, J., Chen, J., Huang, J. <strong>FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.</strong> Science 329: 693-696, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671156</a>] [<a href="https://doi.org/10.1126/science.1192656" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20671156">Liu et al. (2010)</a> concluded that the monoubiquitylated complex recruits the downstream repair protein FAN1 and facilitates repair of DNA interstrand crosslinks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20671156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Long, D. T., Raschle, M., Joukov, V., Walter, J. C. <strong>Mechanism of RAD51-dependent DNA interstrand cross-link repair.</strong> Science 333: 84-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21719678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21719678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21719678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1204258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21719678">Long et al. (2011)</a> reported that the broken sister chromatid generated by a DNA double-strand break in Xenopus extracts is repaired via RAD51 (<a href="/entry/179617">179617</a>)-dependent strand invasion into the regenerated sister. Recombination acts downstream of FANCI-FANCD2 (<a href="/entry/613984">613984</a>), yet RAD51 binds interstrand crosslinks-stalled replication forks independently of FANCI and FANC2 and before double-strand break formation. <a href="#5" class="mim-tip-reference" title="Long, D. T., Raschle, M., Joukov, V., Walter, J. C. <strong>Mechanism of RAD51-dependent DNA interstrand cross-link repair.</strong> Science 333: 84-87, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21719678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21719678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21719678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1204258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21719678">Long et al. (2011)</a> concluded that their results elucidated the functional link between the Fanconi anemia pathway and the recombination machinery during interstrand crosslink repair. In addition, their results demonstrated the complete repair of a double-strand break via homologous recombination in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21719678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> determined that the FANCI gene contains 38 exons, with translation starting in exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17452773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#2" class="mim-tip-reference" title="Joo, W., Xu, G., Persky, N. S., Smogorzewska, A., Rudge, D. G., Buzovetsky, O., Elledge, S. J., Pavletich, N. P. <strong>Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway.</strong> Science 333: 312-316, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21764741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21764741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21764741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1205805" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21764741">Joo et al. (2011)</a> determined the crystal structure of the FANCI-FANCD2 (ID) complex at 3.4-angstrom resolution. The structure of the approximate 300-kD ID complex revealed that monoubiquitination and regulatory phosphorylation sites map to the I-D interface, suggesting that they occur on monomeric proteins or an opened-up complex and that they may serve to stabilize I-D heterodimerization. The 7.8-angstrom electron-density map of FANCI-DNA crystals and in vitro data showed that each protein has binding sites for both single- and double-stranded DNA, suggesting that the ID complex recognizes DNA structures that result from the encounter of replication forks with an interstrand crosslink. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21764741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Cryoelectron Microscopy</em></strong></p><p>
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Using cryoelectron microscopy, <a href="#9" class="mim-tip-reference" title="Wang, R., Wang, S., Dhar, A., Peralta, C., Pavletich, N. P. <strong>DNA clamp function of the monoubiquitinated Fanconi anaemia ID complex.</strong> Nature 580: 278-282, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32269332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32269332</a>] [<a href="https://doi.org/10.1038/s41586-020-2110-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32269332">Wang et al. (2020)</a> determined the monoubiquitinated human ID complex bound to DNA, and revealed that it forms a closed ring that encircles the DNA. By comparison with the structure of the nonubiquitinated ID complex bound to interstrand crosslinked DNA, they showed that monoubiquitination triggers a complete rearrangement of the open, trough-like ID structure through the ubiquitin of one protomer binding to the other protomer in a reciprocal fashion. These structures, together with biochemical data, indicated that the monoubiquitinated ID complex loses its preference for interstrand crosslinks and related branched DNA structures, and becomes a sliding DNA clamp that can coordinate the subsequent repair reactions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32269332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> mapped the FANCI gene to chromosome 15q25-q26. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17452773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> identified several mutations in the FANCI gene (e.g., <a href="#0001">611360.0001</a>-<a href="#0004">611360.0004</a>) in 8 patients with FA complementation group I (FANCI; <a href="/entry/609053">609053</a>). Western blot analysis confirmed that functionally active FANCI protein was absent in patients with FA complementation group I. <a href="#7" class="mim-tip-reference" title="Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T. <strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong> Nature Struct. Molec. Biol. 14: 564-567, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460694</a>] [<a href="https://doi.org/10.1038/nsmb1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460694">Sims et al. (2007)</a> and <a href="#8" class="mim-tip-reference" title="Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J. <strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong> Cell 129: 289-301, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412408[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412408">Smogorzewska et al. (2007)</a> also reported mutations in the FANCI gene in patients with FA complementation group I. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17452773+17460694+17412408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2052048258 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2052048258;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2052048258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2052048258" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Turkish female with Fanconi anemia complementation group I (FANCI; <a href="/entry/609053">609053</a>), <a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> identified a homozygous T-to-C transition at nucleotide 2 of the FANCI cDNA, resulting in removal of the translation initiation site. The patient had consanguineous parents and died at age 6.5 years. <a href="#7" class="mim-tip-reference" title="Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T. <strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong> Nature Struct. Molec. Biol. 14: 564-567, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460694</a>] [<a href="https://doi.org/10.1038/nsmb1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460694">Sims et al. (2007)</a> identified the same mutation and noted that it produces a new start codon at met94. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17452773+17460694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918163 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918163;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001023 OR RCV005089139" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001023, RCV005089139" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001023...</a>
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<p>In 2 Indian sibs with Fanconi anemia complementation group I (FANCI; <a href="/entry/609053">609053</a>), <a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> identified a homozygous G-to-A transition at nucleotide 3854 in exon 36 of the FANCI cDNA, resulting in an arg1285-to-gln (R1285Q) substitution. The mutation removed a highly conserved amino acid and created an additional ATM/ATR phosphorylation motif. The patients had consanguineous parents and died at ages 15 and 23 years. Both patients were also homozygous for a polymorphism, a C-to-T change at nucleotide 164 that resulted in a pro77-to-leu (P77L) substitution. This polymorphism was present in nearly 10% of healthy Dutch individuals. <a href="#8" class="mim-tip-reference" title="Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J. <strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong> Cell 129: 289-301, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412408[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2007.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412408">Smogorzewska et al. (2007)</a> identified the same mutation and polymorphism in these patients and confirmed that R1285Q was the disease-causing mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17452773+17412408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918164 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918164;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918164?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001024 OR RCV000584965 OR RCV001384910 OR RCV004754232" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001024, RCV000584965, RCV001384910, RCV004754232" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001024...</a>
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<p>In a male Hungarian child with Fanconi anemia complementation group I (FANCI; <a href="/entry/609053">609053</a>) who had nonconsanguineous parents, <a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a> identified compound heterozygosity for mutations in the FANCI gene. The mutation on the maternal allele was a C-to-T transition at nucleotide 3853 in exon 37 of the FANCI cDNA, resulting in an arg1285-to-ter (R964X) substitution. The mutation on the paternal allele was an A-to-G transition at nucleotide -88 in intron 31 (3350-88A-G using the cDNA numbering; <a href="#0004">611360.0004</a>), which created a novel splice donor site and resulted in an additional exon. The patient died at age 12 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17452773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 FANCONI ANEMIA, COMPLEMENTATION GROUP I</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2054700381 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2054700381;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2054700381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2054700381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001195003" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001195003" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001195003</a>
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<p>For discussion of the splice site mutation in the FANCI gene (3350-88A-G) that was found in compound heterozygous state in a patient with Fanconi anemia complementation group I (FANCI; <a href="/entry/609053">609053</a>) by <a href="#1" class="mim-tip-reference" title="Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H. <strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong> Cell. Oncol. 29: 211-218, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>] [<a href="https://doi.org/10.1155/2007/151968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17452773">Dorsman et al. (2007)</a>, see <a href="#0003">611360.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17452773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H.
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<strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong>
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Cell. Oncol. 29: 211-218, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17452773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17452773</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17452773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1155/2007/151968" target="_blank">Full Text</a>]
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Joo, W., Xu, G., Persky, N. S., Smogorzewska, A., Rudge, D. G., Buzovetsky, O., Elledge, S. J., Pavletich, N. P.
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<strong>Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway.</strong>
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Science 333: 312-316, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21764741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21764741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21764741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21764741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1205805" target="_blank">Full Text</a>]
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Knipscheer, P., Raschle, M., Smogorzewska, A., Enoiu, M., Ho, T. V., Scharer, O. D., Elledge, S. J., Walter, J. C.
|
|
<strong>The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.</strong>
|
|
Science 326: 1698-1701, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19965384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19965384</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19965384[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19965384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1182372" target="_blank">Full Text</a>]
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</p>
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</div>
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<a id="4" class="mim-anchor"></a>
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<a id="Liu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liu, T., Ghosal, G., Yuan, J., Chen, J., Huang, J.
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<strong>FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.</strong>
|
|
Science 329: 693-696, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20671156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20671156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20671156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1192656" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Long2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Long, D. T., Raschle, M., Joukov, V., Walter, J. C.
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<strong>Mechanism of RAD51-dependent DNA interstrand cross-link repair.</strong>
|
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Science 333: 84-87, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21719678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21719678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21719678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21719678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1204258" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Nagase2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 8: 85-95, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11347906/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11347906</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11347906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/8.2.85" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Sims2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T.
|
|
<strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong>
|
|
Nature Struct. Molec. Biol. 14: 564-567, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17460694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nsmb1252" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Smogorzewska2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J.
|
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<strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong>
|
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Cell 129: 289-301, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412408[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17412408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2007.03.009" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Wang2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, R., Wang, S., Dhar, A., Peralta, C., Pavletich, N. P.
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<strong>DNA clamp function of the monoubiquitinated Fanconi anaemia ID complex.</strong>
|
|
Nature 580: 278-282, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32269332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32269332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32269332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-020-2110-6" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 08/10/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 9/1/2011<br>Ada Hamosh - updated : 8/4/2011<br>Ada Hamosh - updated : 9/1/2010<br>Ada Hamosh - updated : 1/8/2010
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</span>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse : 8/20/2007
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/10/2020
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/06/2016<br>carol : 04/25/2016<br>carol : 5/21/2015<br>mcolton : 5/15/2015<br>alopez : 9/6/2011<br>terry : 9/1/2011<br>alopez : 8/15/2011<br>terry : 8/4/2011<br>alopez : 9/2/2010<br>terry : 9/1/2010<br>alopez : 1/11/2010<br>terry : 1/8/2010<br>mgross : 8/21/2007
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611360
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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FANCI GENE; FANCI
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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KIAA1794
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FANCI</em></strong>
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 15q26.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:89,243,979-89,317,259 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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15q26.1
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</span>
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<td>
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<span class="mim-font">
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Fanconi anemia, complementation group I
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</span>
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</td>
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<td>
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<span class="mim-font">
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609053
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tbody>
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<br />
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>FANCI, a monoubiquitinated paralog of FANCD2 (227646), belongs to the Fanconi anemia (FA; see 227650) DNA interstrand cross-link repair pathway and is required for resistance to mitomycin C (Dorsman et al., 2007; Sims et al., 2007; Smogorzewska et al., 2007). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By screening a fetal brain cDNA library for cDNAs encoding large proteins, Nagase et al. (2001) cloned FANCI, which they called KIAA1794. The predicted protein contains 802 amino acids. RT-PCR ELISA detected moderate expression in testis and fetal liver and low expression in lung, liver, spleen, ovary, and adult and fetal brain. Expression was very low or undetectable in all other tissues tested. Expression was low in all specific brain regions examined, with slightly higher expression in cerebellum. </p><p>By linkage and bioinformatic analyses to identify the gene underlying FA complementation group I (609053), Dorsman et al. (2007) identified FANCI. The predicted FANCI protein contains 1,328 amino acids and has a calculated molecular mass of 146 kD. It has 3 nuclear localization signals and 3 ATM (607585)/ATR (601215) phosphorylation motifs. Western blot analysis revealed a 150-kD endogenous FANCI protein in lymphoblasts. </p><p>By searching databases for homologs of FANCD2, Sims et al. (2007) identified FANCI. Like FANCD2, FANCI contains a conserved monoubiquitination site, and the 2 proteins share about 40% similarity in the region surrounding the site. </p><p>Using a proteomic screen to identify ATM and ATR kinase substrates and a DNA damage sensitivity screen, followed by screening a lymphocyte cDNA library, Smogorzewska et al. (2007) cloned FANCI. FANCI contains 3 phosphorylation sites and a monoubiquitination site, lys523, homologous to the lys561 monoubiquitination site of FANCD2. </p>
|
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</span>
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<div>
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<br />
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dorsman et al. (2007) found that knockdown of FANCI expression by small interfering RNA (siRNA) in HeLa cells caused excessive chromosomal breakage induced by mitomycin C, a hallmark of FA cells. </p><p>Sims et al. (2007) found that FANCI was monoubiquitinated in a FANCD2-dependent manner and localized to nuclear foci following treatment of HeLa cells with DNA-damaging agents. Cell fractionation and immunoblot analysis showed that most monoubiquitinated FANCI was associated with chromatin in the nuclear fraction. Treatment of HeLa cells with siRNA to FANCI or FANCD2 resulted in sensitivity to mitomycin C. Sims et al. (2007) concluded that FANCI behaves as a functional homolog of FANCD2 in the coordination and repair of DNA cross-links. </p><p>Smogorzewska et al. (2007) found that treatment of U2OS cells with siRNA against FANCI abrogated the G2/M cell cycle checkpoint. FANCI localized to damage-induced foci in multiple cell types, and FANCI formed a complex with FANCD2 that was required for localization of FANCD2 to damage-induced foci. Mitomycin C treatment induced monoubiquitination of FANCI at lys523, and monoubiquitination of FANCI in the absence of DNA damage was also detectable during S phase. Mutation analysis showed that lys523 was critical for FANCI monoubiquitination. Ubiquitination of FANCI was dependent on FANCA (607139), and FANCI and FANCD2 showed reciprocal ubiquitination dependencies. Smogorzewska et al. (2007) concluded that FANCI is a FANCD2 paralog required for DNA cross-link repair, that it is monoubiquitinated, and that FANCI and FANCD2 form an interdependent complex required for ubiquitination and chromatin association. </p><p>Knipscheer et al. (2009) used a cell-free system to demonstrate that FANCI-FANCD2 (227646) is required for replication-coupled interstrand crosslink repair in S phase. Removal of FANCD2 from extracts inhibited both nucleolytic incisions near the interstrand crosslink and translesion DNA synthesis past the lesion. Reversal of these defects required ubiquitylated FANCI-FANCD2. Knipscheer et al. (2009) concluded that multiple steps of the essential S phase interstrand crosslink repair mechanism fail when the Fanconi anemia pathway is compromised. </p><p>A central event in the Fanconi pathway is monoubiquitylation of the FANCI-FANCD2 protein complex. Liu et al. (2010) characterized the Fanconi anemia-associated nuclease FAN1 (613534), which promotes interstrand crosslink repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on monoubiquitylation of the FANCI-FAND2 complex. Liu et al. (2010) concluded that the monoubiquitylated complex recruits the downstream repair protein FAN1 and facilitates repair of DNA interstrand crosslinks. </p><p>Long et al. (2011) reported that the broken sister chromatid generated by a DNA double-strand break in Xenopus extracts is repaired via RAD51 (179617)-dependent strand invasion into the regenerated sister. Recombination acts downstream of FANCI-FANCD2 (613984), yet RAD51 binds interstrand crosslinks-stalled replication forks independently of FANCI and FANC2 and before double-strand break formation. Long et al. (2011) concluded that their results elucidated the functional link between the Fanconi anemia pathway and the recombination machinery during interstrand crosslink repair. In addition, their results demonstrated the complete repair of a double-strand break via homologous recombination in vitro. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dorsman et al. (2007) determined that the FANCI gene contains 38 exons, with translation starting in exon 2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Joo et al. (2011) determined the crystal structure of the FANCI-FANCD2 (ID) complex at 3.4-angstrom resolution. The structure of the approximate 300-kD ID complex revealed that monoubiquitination and regulatory phosphorylation sites map to the I-D interface, suggesting that they occur on monomeric proteins or an opened-up complex and that they may serve to stabilize I-D heterodimerization. The 7.8-angstrom electron-density map of FANCI-DNA crystals and in vitro data showed that each protein has binding sites for both single- and double-stranded DNA, suggesting that the ID complex recognizes DNA structures that result from the encounter of replication forks with an interstrand crosslink. </p><p><strong><em>Cryoelectron Microscopy</em></strong></p><p>
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Using cryoelectron microscopy, Wang et al. (2020) determined the monoubiquitinated human ID complex bound to DNA, and revealed that it forms a closed ring that encircles the DNA. By comparison with the structure of the nonubiquitinated ID complex bound to interstrand crosslinked DNA, they showed that monoubiquitination triggers a complete rearrangement of the open, trough-like ID structure through the ubiquitin of one protomer binding to the other protomer in a reciprocal fashion. These structures, together with biochemical data, indicated that the monoubiquitinated ID complex loses its preference for interstrand crosslinks and related branched DNA structures, and becomes a sliding DNA clamp that can coordinate the subsequent repair reactions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Dorsman et al. (2007) mapped the FANCI gene to chromosome 15q25-q26. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Dorsman et al. (2007) identified several mutations in the FANCI gene (e.g., 611360.0001-611360.0004) in 8 patients with FA complementation group I (FANCI; 609053). Western blot analysis confirmed that functionally active FANCI protein was absent in patients with FA complementation group I. Sims et al. (2007) and Smogorzewska et al. (2007) also reported mutations in the FANCI gene in patients with FA complementation group I. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 FANCONI ANEMIA, COMPLEMENTATION GROUP I</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCI, 2T-C
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<br />
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SNP: rs2052048258,
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ClinVar: RCV001194980
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Turkish female with Fanconi anemia complementation group I (FANCI; 609053), Dorsman et al. (2007) identified a homozygous T-to-C transition at nucleotide 2 of the FANCI cDNA, resulting in removal of the translation initiation site. The patient had consanguineous parents and died at age 6.5 years. Sims et al. (2007) identified the same mutation and noted that it produces a new start codon at met94. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 FANCONI ANEMIA, COMPLEMENTATION GROUP I</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCI, ARG1285GLN
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<br />
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SNP: rs121918163,
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ClinVar: RCV000001023, RCV005089139
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Indian sibs with Fanconi anemia complementation group I (FANCI; 609053), Dorsman et al. (2007) identified a homozygous G-to-A transition at nucleotide 3854 in exon 36 of the FANCI cDNA, resulting in an arg1285-to-gln (R1285Q) substitution. The mutation removed a highly conserved amino acid and created an additional ATM/ATR phosphorylation motif. The patients had consanguineous parents and died at ages 15 and 23 years. Both patients were also homozygous for a polymorphism, a C-to-T change at nucleotide 164 that resulted in a pro77-to-leu (P77L) substitution. This polymorphism was present in nearly 10% of healthy Dutch individuals. Smogorzewska et al. (2007) identified the same mutation and polymorphism in these patients and confirmed that R1285Q was the disease-causing mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP I</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCI, ARG1285TER
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<br />
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|
SNP: rs121918164,
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|
|
gnomAD: rs121918164,
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|
|
ClinVar: RCV000001024, RCV000584965, RCV001384910, RCV004754232
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male Hungarian child with Fanconi anemia complementation group I (FANCI; 609053) who had nonconsanguineous parents, Dorsman et al. (2007) identified compound heterozygosity for mutations in the FANCI gene. The mutation on the maternal allele was a C-to-T transition at nucleotide 3853 in exon 37 of the FANCI cDNA, resulting in an arg1285-to-ter (R964X) substitution. The mutation on the paternal allele was an A-to-G transition at nucleotide -88 in intron 31 (3350-88A-G using the cDNA numbering; 611360.0004), which created a novel splice donor site and resulted in an additional exon. The patient died at age 12 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 FANCONI ANEMIA, COMPLEMENTATION GROUP I</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
FANCI, IVS31AS, A-G, -88
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2054700381,
|
|
|
|
|
|
|
|
ClinVar: RCV001195003
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the FANCI gene (3350-88A-G) that was found in compound heterozygous state in a patient with Fanconi anemia complementation group I (FANCI; 609053) by Dorsman et al. (2007), see 611360.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., Schindler, D., Arwert, F., Pals, G., Mathew, C. G., Waisfisz, Q., de Winter, J. P., Joenje, H.
|
|
<strong>Identification of the Fanconi anemia complementation group I gene, FANCI.</strong>
|
|
Cell. Oncol. 29: 211-218, 2007.
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|
|
[PubMed: 17452773]
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[Full Text: https://doi.org/10.1155/2007/151968]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Joo, W., Xu, G., Persky, N. S., Smogorzewska, A., Rudge, D. G., Buzovetsky, O., Elledge, S. J., Pavletich, N. P.
|
|
<strong>Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway.</strong>
|
|
Science 333: 312-316, 2011.
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|
|
[PubMed: 21764741]
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[Full Text: https://doi.org/10.1126/science.1205805]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Knipscheer, P., Raschle, M., Smogorzewska, A., Enoiu, M., Ho, T. V., Scharer, O. D., Elledge, S. J., Walter, J. C.
|
|
<strong>The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.</strong>
|
|
Science 326: 1698-1701, 2009.
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|
|
[PubMed: 19965384]
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[Full Text: https://doi.org/10.1126/science.1182372]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Liu, T., Ghosal, G., Yuan, J., Chen, J., Huang, J.
|
|
<strong>FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.</strong>
|
|
Science 329: 693-696, 2010.
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|
[PubMed: 20671156]
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[Full Text: https://doi.org/10.1126/science.1192656]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Long, D. T., Raschle, M., Joukov, V., Walter, J. C.
|
|
<strong>Mechanism of RAD51-dependent DNA interstrand cross-link repair.</strong>
|
|
Science 333: 84-87, 2011.
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|
[PubMed: 21719678]
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[Full Text: https://doi.org/10.1126/science.1204258]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R., Ohara, O.
|
|
<strong>Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
|
DNA Res. 8: 85-95, 2001.
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[PubMed: 11347906]
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[Full Text: https://doi.org/10.1093/dnares/8.2.85]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Sims, A. E., Spiteri, E., Sims, R. J., III, Arita, A. G., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., Auerbach, A. D., Huang, T. T.
|
|
<strong>FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.</strong>
|
|
Nature Struct. Molec. Biol. 14: 564-567, 2007.
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|
|
[PubMed: 17460694]
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[Full Text: https://doi.org/10.1038/nsmb1252]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., III, Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D'Andrea, A. D., Elledge, S. J.
|
|
<strong>Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.</strong>
|
|
Cell 129: 289-301, 2007.
|
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|
|
[PubMed: 17412408]
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[Full Text: https://doi.org/10.1016/j.cell.2007.03.009]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Wang, R., Wang, S., Dhar, A., Peralta, C., Pavletich, N. P.
|
|
<strong>DNA clamp function of the monoubiquitinated Fanconi anaemia ID complex.</strong>
|
|
Nature 580: 278-282, 2020.
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|
[PubMed: 32269332]
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[Full Text: https://doi.org/10.1038/s41586-020-2110-6]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Ada Hamosh - updated : 08/10/2020<br>Ada Hamosh - updated : 9/1/2011<br>Ada Hamosh - updated : 8/4/2011<br>Ada Hamosh - updated : 9/1/2010<br>Ada Hamosh - updated : 1/8/2010
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
|
</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Paul J. Converse : 8/20/2007
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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