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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FANCI Gene

protein-coding   GIFtS: 59
GCID: GC15P089787

Fanconi Anemia, Complementation Group I

(Previous name: KIAA1794)
(Previous symbol: KIAA1794)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fanconi Anemia, Complementation Group I1 2
KIAA17941 2 3 5
Fanconi Anemia Group I Protein2
Protein FACI3

External Ids:    HGNC: 255681   Entrez Gene: 552152   Ensembl: ENSG000001405257   OMIM: 6113605   UniProtKB: Q9NVI13   

Export aliases for FANCI gene to outside databases

Previous GC identifers: GC00U922091 GC15P087588 GC15P065899


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FANCI Gene:
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called
BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called
PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous
recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents,
increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group
do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This
gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants
encoding different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for FANCI Gene: 
FANCI (Fanconi anemia, complementation group I) is a protein-coding gene. Diseases associated with FANCI include fanconi anemia, complementation group i, and fanci-related fanconi anemia, and among its related super-pathways are Fanconi Anemia pathway and Nucleotide Excision Repair. GO annotations related to this gene include protein binding and DNA binding.

UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1
Function: Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the
repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in
recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched
DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase
checkpoint activation upon DNA damage

Gene Wiki entry for FANCI Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010274.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FANCI gene promoter:
         MEF-2A   Elk-1   Sox5   NRF-2   Sox9   aMEF-2   ZID   Roaz   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANCI promoter sequence
   Search SABiosciences Chromatin IP Primers for FANCI

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FANCI


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

FANCI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANCI gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P089787:  view genomic region     (about GC identifiers)

Start:
89,787,180 bp from pter      End:
89,860,492 bp from pter
Size:
73,313 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1 (See protein sequence)
Recommended Name: Fanconi anemia group I protein  
Size: 1328 amino acids; 149324 Da
Subunit: Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1
Subcellular location: Nucleus. Note=Observed in spots localized in pairs on the sister chromatids of mitotic
chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites. They
are frequently interlinked through BLM-associated ultra-fine DNA bridges
Sequence caution: Sequence=AAH04277.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91770.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55200.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A4ZVE4 A5YMH4 A6NJZ0 Q96JN1 Q96ST0 Q9BT96
Alternative splicing: 4 isoforms:  Q9NVI1-3   Q9NVI1-2   Q9NVI1-1   Q9NVI1-4   

Explore the universe of human proteins at neXtProt for FANCI: NX_Q9NVI1

Explore proteomics data for FANCI at MOPED 

Post-translational modifications:

  • UniProtKB: Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells
    enter G2/M, or once DNA repair is completed. Monoubiquitination requires the
    FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA
    repair, and normal cell cycle progression. Monoubiquitination is stimulated by DNA-binding
  • UniProtKB: Phosphorylated in response to DNA damage by ATM and/or ATR
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NVI1

  • FANCI Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FANCI Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001106849.1  NP_060663.2  

    ENSEMBL proteins: 
     ENSP00000300027   ENSP00000310842   ENSP00000455735   ENSP00000456552   ENSP00000454371  
     ENSP00000413249   ENSP00000458024   ENSP00000457029   ENSP00000454669   ENSP00000455189  
     ENSP00000390764  
    Reactome Protein details: Q9NVI1
    Human Recombinant Protein Products for FANCI: 
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    OriGene Protein Over-expression Lysate for FANCI
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    Novus Biologicals FANCI Protein
    Novus Biologicals FANCI Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FANCI 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005886plasma membrane IDA--

    FANCI for ontologies           About GeneDecksing



    FANCI Antibody Products: 
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    Cloud-Clone Corp. CLIAs for FANCI


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FANC: Fanconi anemia, complementation groups

    1 InterPro protein domain:
     IPR026171 FANCI

    Graphical View of Domain Structure for InterPro Entry Q9NVI1

    ProtoNet protein and cluster: Q9NVI1

    UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1
    Domain: The C-terminal 30 residues are probably required for function in DNA repair


    FANCI for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FANCI_HUMAN, Q9NVI1
    Function: Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the
    repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in
    recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched
    DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase
    checkpoint activation upon DNA damage

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI17460694
         
    FANCI for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FANCI:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fanci):
     craniofacial  vision/eye 

    FANCI for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FANCI 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FANCI 
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    hsa-miR-130a* hsa-miR-3155 hsa-miR-23c hsa-miR-484 hsa-miR-23b hsa-miR-23a hsa-miR-510 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidFANCI 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FANCI About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fanconi Anemia pathway
    Fanconi Anemia pathway0.43
    Regulation of the Fanconi anemia pathway0.42
    2Nucleotide Excision Repair
    DNA Repair0.46
    3Gastric cancer network 2
    Gastric cancer network 2
    4Fanconi anemia pathway
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for FANCI
        Gastric cancer network 2

    3        Reactome Pathways for FANCI
        DNA Repair
    Regulation of the Fanconi anemia pathway
    Fanconi Anemia pathway


    1         Kegg Pathway  (Kegg details for FANCI):
        Fanconi anemia pathway


    FANCI for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FANCI

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/833 Interacting proteins for FANCI (Q9NVI11, 2, 3 ENSP000003108424) via UniProtKB, MINT, STRING, and/or I2D (see all 833)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD18Q9NS912, 3, ENSP000002649264MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000264926
    ILKQ134182, 3, ENSP000002994214MINT-7945693 I2D: score=2 STRING: ENSP00000299421
    TNFRSF1BP203332, 3MINT-49425 MINT-49434 I2D: score=2 
    UBA5Q9GZZ92, 3MINT-7945693 MINT-7947479 I2D: score=1 
    TNFRSF1AP194382, 3MINT-49349 I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--
    GO:0007049cell cycle IEA--
    GO:0031398positive regulation of protein ubiquitination IDA18029348

    FANCI for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FANCI

    Search CenterWatch for drugs/clinical trials and news about FANCI

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FANCI gene (2 alternative transcripts): 
    NM_001113378.1  NM_018193.2  

    Unigene Cluster for FANCI:

    Fanconi anemia, complementation group I
    Hs.513126  [show with all ESTs]
    Unigene Representative Sequence: BC146804
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300027(uc002bnm.1 uc002bnn.1 uc002bnp.1) ENST00000310775(uc010bnp.1)
    ENST00000568670 ENST00000567891 ENST00000564920 ENST00000565255 ENST00000447611
    ENST00000570110 ENST00000567996(uc002bno.3) ENST00000563250 ENST00000565522
    ENST00000564636 ENST00000570225 ENST00000561894 ENST00000566895(uc002bnq.1)
    ENST00000564350 ENST00000566615 ENST00000451393
    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate FANCI (see all 9):
    hsa-miR-130a* hsa-miR-3155 hsa-miR-23c hsa-miR-484 hsa-miR-23b hsa-miR-23a hsa-miR-510 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidFANCI 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCI
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCI

    Additional mRNA sequence: 

    AK001581.1 AK027564.1 BC004277.1 BC021859.1 BC140769.1 BC144483.1 BC146804.1 EF469766.1 
    EF567077.1 

    21 DOTS entries:

    DT.40117040  DT.86850169  DT.97799629  DT.92430235  DT.100715141  DT.100806670  DT.217587  DT.100806655 
    DT.217586  DT.95253571  DT.100658680  DT.100780765  DT.100806663  DT.91923487  DT.40191266  DT.40213937 
    DT.95144659  DT.97846865  DT.121036019  DT.121036084  DT.95253570 

    24/196 AceView cDNA sequences (see all 196):

    CR602910 BU632537 CB145921 AA972625 BC004277 AI656226 BQ055573 BU742112 
    BF970375 AI200839 BM717894 BQ643065 BE551594 AA280016 AU130593 BU165314 
    AW593123 BQ057885 BM789375 BM465796 BM478761 BM015662 AA280087 AW178307 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FANCI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGGAGGGT
    FANCI Expression
    About this image


    See FANCI Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FANCI

    SOURCE GeneReport for Unigene cluster: Hs.513126
        SABiosciences Custom PCR Arrays for FANCI
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCI

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FANCI gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fanci1 , 5 Fanconi anemia, complementation group I1, 5 83.03(n)1
    81.09(a)1
      7 (45.01 cM)5
    2088361  NM_145946.21  NP_666058.21 
     793919295 
    chicken
    (Gallus gallus)
    Aves FANCI1 Fanconi anemia, complementation group I 69.19(n)
    67.8(a)
      415491  NM_001114851.1  NP_001108323.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    67(a)
    66(a)
    many → 1
    many → 1
    GL344998.1(810-13144)
    GL343444.1(233145-281061)
    zebrafish
    (Danio rerio)
    Actinopterygii fanci1 Fanconi anemia, complementation group I 62.16(n)
    61.04(a)
      324185  NM_001077312.2  NP_001070780.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta FANCI1 Fanconi anemia complementation group I homologue 39.6(n)
    25.09(a)
      35895  NM_136585.2  NP_610429.2 
    worm
    (Caenorhabditis elegans)
    Secernentea fnci-16
    Protein FNCI-1, isoform a
    13(a)
    1 ↔ 1
    I(6746018-6753031)


    ENSEMBL Gene Tree for FANCI (if available)
    TreeFam Gene Tree for FANCI (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2079 SNPs in FANCI are shown (see all 2079)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219181641,2
    Cpathogenic169583545(+) CCTCAC/TGAGAC 4 R * stg11Minor allele frequency- T:0.00EU 1323
    VAR_0326924
    ----see VAR_0326922 R Q mis40--------
    VAR_0326914
    ----see VAR_0326912 H Y mis40--------
    rs2017700381,2
    C--65908648(-) ACTTAA/TTNNNN 2 -- int10--------
    rs1434037791,2
    C--69510107(+) TGCAGA/GCATAG 2 -- us2k10--------
    rs1917815461,2
    --69510133(+) ACACTA/GTAGGA 2 -- us2k10--------
    rs1159631151,2
    C,F--69510172(+) TTTGTA/TCTTTT 2 -- us2k11Minor allele frequency- T:0.08WA 118
    rs1466898701,2
    --69510268(+) CATTAC/TTGTAA 2 -- us2k10--------
    rs787964711,2
    C,F--69510275(+) GTAAAC/ACTGTT 2 -- us2k11Minor allele frequency- A:0.08WA 118
    rs1831223981,2
    --69510367(+) GATTTA/GCTCCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for FANCI (89787180 - 89860492 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FANCI:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv94979CNV Insertion16902084
    nsv833086CNV Loss17160897
    nsv1657CNV Loss18451855


    Human Gene Mutation Database (HGMD): FANCI

    Locus Specific Mutation Databases (LSDB): FANCI
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611360   
    OMIM disorders: 609053  
    UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1
  • Fanconi anemia complementation group I (FANCI) [MIM:609053]: A disorder affecting all bone marrow
    elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb
    malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the
    cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased
    chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for FANCI:    About MalaCards
    fanconi anemia, complementation group i    fanci-related fanconi anemia    fanconi's anemia    anemia
    leukopenia    breast cancer susceptibility    ataxia telangiectasia    ataxia
    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for FANCI:
    Bone marrow disease     Anemia

    FANCI for disorders           About GeneDecksing

    GeneTests: FANCI
    GeneReviews: FANCI
    Genetic Association Database (GAD): FANCI
    Human Genome Epidemiology (HuGE) Navigator: FANCI (2 documents)

    Export disorders for FANCI gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FANCI gene, integrated from 9 sources (see all 60):
    (articles sorted by number of sources associating them with FANCI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. (PubMed id 17412408)1, 2, 3 Smogorzewska A....Elledge S.J. (2007)
    2. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. (PubMed id 17460694)1, 2, 3 Sims A.E.... Huang T.T. (2007)
    3. Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway. (PubMed id 21775430)1, 2 Hodson C.... Walden H. (2011)
    4. Identification of KIAA1018/FAN1, a DNA repair nucleas e recruited to DNA damage by monoubiquitinated FANCD2. (PubMed id 20603015)1, 2 MacKay C....Rouse J. (2010)
    5. The Fanconi anemia family of genes and its correlatio n with breast cancer susceptibility and breast cancer features. (PubMed id 19536649)1, 4 Barroso E....Ribas G. (2009)
    6. Replication stress induces sister-chromatid bridging at fragile site loci in mitosis. (PubMed id 19465922)1, 2 Chan K.L....Hickson I.D. (2009)
    7. FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL. (PubMed id 19589784)1, 2 Longerich S....Sung P. (2009)
    8. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FA NCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. (PubMed id 19737859)1, 4 GarcA-a M.J....BenA-tez J. (2009)
    9. Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. (PubMed id 19111657)1, 2 Alpi A.F....Patel K.J. (2008)
    10. Identification of the Fanconi anemia complementation group I gene, FANCI. (PubMed id 17452773)1, 2 Dorsman J.C.... Joenje H. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55215 HGNC: 25568 AceView: FLJ10719 Ensembl:ENSG00000140525 euGenes: HUgn55215
    ECgene: FANCI Kegg: 55215 H-InvDB: FANCI

    (According to HUGE)
    About This Section
    HUGE: KIAA1794

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FANCI Pharmacogenomics, SNPs, Pathways
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpi.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCI

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FANCI gene:
    Search GeneIP for patents involving FANCI

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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