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FANCE Gene

protein-coding   GIFtS: 63
GCID: GC06P037294

Fanconi Anemia, Complementation Group E


(Previous symbol: FACE)
  See FANCE-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)
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Aliases
Fanconi Anemia, Complementation Group E1 2
FACE1 2 3 5
FAE2
Fanconi Anemia Group E Protein2
Protein FACE3

External Ids:    HGNC: 35861   Entrez Gene: 21782   Ensembl: ENSG000001120397   OMIM: 6139765   UniProtKB: Q9HB963   

Export aliases for FANCE gene to outside databases

Previous GC identifers: GC06P035422 GC06P035466 GC06P035528 GC06P035140 GC06P035565 GC06P035783 GC06P036308


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FANCE 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 E. (provided by RefSeq, Jul 2008)

GeneCards Summary for FANCE Gene:
FANCE (Fanconi anemia, complementation group E) is a protein-coding gene. Diseases associated with FANCE include fanconi anemia, complementation group e, and fance-related fanconi anemia.

UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96
Function: As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear
accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2

Gene Wiki entry for FANCE 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FANCE gene promoter:
         Bach1   NF-1   NF-1/L   RFX1   Olf-1   E47   CREB   deltaCREB   ARP-1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFANCE promoter sequence
   Search Chromatin IP Primers for FANCE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FANCE


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

Entrez Gene cytogenetic band: 6p22-p21   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p22-p21

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P037294:  view genomic region     (about GC identifiers)

Start:
35,420,138 bp from pter      End:
35,434,881 bp from pter
Size:
14,744 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96 (See protein sequence)
Recommended Name: Fanconi anemia group E protein  
Size: 536 amino acids; 58711 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9
and FANCM. The complex is not found in FA patients. Interacts with FANCC and FANCD2
1 PDB 3D structure from and Proteopedia for FANCE:
2ILR (3D)    
Secondary accessions: A8K907 Q4ZGH2

Explore the universe of human proteins at neXtProt for FANCE: NX_Q9HB96

Explore proteomics data for FANCE at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair1
  • Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation1
  • Ubiquitination2 at Lys84
  • Modification sites at PhosphoSitePlus

  • See FANCE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068741.1  
    ENSEMBL proteins: 
     ENSP00000229769  
    Reactome Protein details: Q9HB96

    FANCE Human Recombinant Protein Products:

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    Novus Biologicals FANCE Protein
    Novus Biologicals FANCE Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for FANCE

     
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    LSBio Antibodies in human, mouse, rat for FANCE

    FANCE Assay Products:

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    Search eBioscience for ELISAs for FANCE 


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

    1 InterPro protein domain:
     IPR021025 Fanconi_anaemia_gr_E_prot_C

    Graphical View of Domain Structure for InterPro Entry Q9HB96

    ProtoNet protein and cluster: Q9HB96


    Find genes that share domains with FANCE           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FANCE_HUMAN, Q9HB96
    Function: As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear
    accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with FANCE           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FANCE:
     Decreased Hepatitis C virus re  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FANCE
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FANCE
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FANCE

    miRNA
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    miRTarBase miRNAs that target FANCE:
    hsa-mir-193b-3p (MIRT016378)

    Block miRNA regulation of human, mouse, rat FANCE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FANCE (see all 9):
    hsa-miR-4254 hsa-miR-330-5p hsa-miR-944 hsa-miR-4299 hsa-miR-650 hsa-miR-326 hsa-miR-3165 hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidFANCE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FANCE
    Predesigned siRNA for gene silencing in human, mouse, rat FANCE

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: FANCE (NM_021922)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCE

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FANCE_HUMAN, Q9HB96: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11001585
    GO:0005654nucleoplasm TAS--
    GO:0043240Fanconi anaemia nuclear complex IDA--

    Find genes that share ontologies with FANCE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FANCE About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1BRCA1 Pathway
    BRCA1 Pathway
    Fanconi's Anaemia Pathway0.00
    2DNA Repair
    DNA Repair0.45
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    4Fanconi Anemia pathway (REACTOME)
    Fanconi Anemia pathway
    5Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway


    Find genes that share SuperPaths with FANCE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FANCE
        Fanconi's Anaemia Pathway
    BRCA1 Pathway
    DNA Repair Mechanisms

    1 BioSystems Pathway for FANCE
        BARD1 signaling events

    1 Reactome Pathway for FANCE
        Fanconi Anemia pathway


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FANCE
    Interactions:

        GeneGlobe Interaction Network for FANCE

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

    Selected Interacting proteins for FANCE (Q9HB962, 3 ENSP000002297694) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCAO153602, 3, ENSP000003739524MINT-45825 I2D: score=5 STRING: ENSP00000373952
    FANCGO152872, 3, ENSP000003679104MINT-45827 I2D: score=5 STRING: ENSP00000367910
    FANCD2Q9BXW92, 3, ENSP000002876474MINT-19474 MINT-45828 MINT-19475 MINT-5206796 I2D: score=4 STRING: ENSP00000287647
    FANCCQ005972, 3, ENSP000002890814MINT-19451 MINT-19450 I2D: score=4 STRING: ENSP00000289081
    FANCFQ9NPI82, 3, ENSP000003308754MINT-45826 I2D: score=3 STRING: ENSP00000330875
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--

    Find genes that share ontologies with FANCE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FANCE

    1 Novoseek inferred chemical compound relationship for FANCE gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitomycin c 55.8 1 12239156 (1)



    Find genes that share compounds with FANCE           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FANCE gene: 
    NM_021922.2  

    Unigene Cluster for FANCE:

    Fanconi anemia, complementation group E
    Hs.302003  [show with all ESTs]
    Unigene Representative Sequence: BC046359
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000229769(uc003oko.1 uc010jvw.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FANCE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FANCE (see all 9):
    hsa-miR-4254 hsa-miR-330-5p hsa-miR-944 hsa-miR-4299 hsa-miR-650 hsa-miR-326 hsa-miR-3165 hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidFANCE 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FANCE
    Clone
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    OriGene ORF clones in mouse, rat for FANCE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FANCE (NM_021922)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FANCE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FANCE
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FANCE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FANCE
      QuantiTect SYBR Green Assays in human, mouse, rat FANCE
      QuantiFast Probe-based Assays in human, mouse, rat FANCE

    Additional mRNA sequence: 

    AF265210.1 AK292522.1 AK312617.1 BC046359.1 

    2 DOTS entries:

    DT.75179684  DT.95374718 

    Selected AceView cDNA sequences (see all 39):

    BU154023 NM_021922 CR605350 BC046359 AF265210 BI060903 BI060775 BI222328 
    BX334387 CB144916 AL571980 BX356757 BI061019 BI061089 BX334386 BG254606 
    BQ437572 BX390433 BX371735 AL549594 AW028850 BQ379868 BI060751 BI916890 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FANCE    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
    SP1:                          -                                               -                     
    SP2:                          -     -                                         -                     
    SP3:                                                                                                
    SP4:                                                                                                


    ECgene alternative splicing isoforms for FANCE

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FANCE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATTATGA
    FANCE Expression
    About this image


    FANCE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    FANCE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FANCE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.302003
        Custom PCR Arrays for FANCE
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCE

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FANCE gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fance1 , 5 Fanconi anemia, complementation group E1, 5 74.33(n)1
    66.28(a)1
      17 (14.65 cM)5
    727751  NM_001163819.11  NP_001157291.11 
     283135305 
    chicken
    (Gallus gallus)
    Aves FANCE1 Fanconi anemia, complementation group E 53.6(n)
    42.63(a)
      419891  XM_004935010.1  XP_004935067.1 
    lizard
    (Anolis carolinensis)
    Reptilia FANCE6
    Fanconi anemia, complementation group E
    53(a)
    1 ↔ 1
    4(120427393-120433356)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fance1 Fanconi anemia, complementation group E 46.54(n)
    36.4(a)
      100126687  XM_002941403.1  XP_002941449.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fance1 Fanconi anemia, complementation group E 47.57(n)
    35.62(a)
      565685  NM_001040634.1  NP_001035724.1 


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

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

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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FANCE (see all 437)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491060091,2
    C--35332840(+) GACAT-/GGAGGAAT 1 -- us2k10--------
    rs94700281,2
    C,F--35332858(+) AGGGCT/CCCTGG 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1427151271,2
    --35332954(+) AATGCA/CCCTAA 1 -- us2k10--------
    rs1461555051,2
    --35332990(+) TGGTCC/TGCTCA 1 -- us2k10--------
    rs77589781,2
    C,F,A,H--35333073(+) AGCTTG/CTGGAA 1 -- us2k125Minor allele frequency- C:0.45NS EA NA WA CSA 2772
    rs1401625461,2
    --35333291(+) GGCTTC/TTTAGC 1 -- us2k10--------
    rs1851500331,2
    --35333368(+) AACATC/TCCCTG 1 -- us2k10--------
    rs1902965261,2
    --35333556(+) TTTCCA/GTACTA 1 -- us2k10--------
    rs69076781,2
    C,F,A,H--35333585(+) CTCCTC/TTCTGT 1 -- us2k122Minor allele frequency- T:0.45NS EA NA WA CSA 2350
    rs1825631901,2
    --35333670(+) CCGTTC/GCAGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FANCE (35420138 - 35434881 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FANCE:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528351CNV Loss19592680
    nsv830641CNV Loss17160897
    nsv885799CNV Loss21882294
    nsv519370CNV Loss19592680

    Human Gene Mutation Database (HGMD): FANCE
    Locus Specific Mutation Databases (LSDB): FANCE

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613976   
    OMIM disorders: 600901  
    UniProtKB/Swiss-Prot: FANCE_HUMAN, Q9HB96
  • Fanconi anemia complementation group E (FANCE) [MIM:600901]: 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

  • 7 diseases for FANCE:    
    About MalaCards
    fanconi anemia, complementation group e    fance-related fanconi anemia    fanconi anemia, complementation group b    fanconi anemia, complementation group m
    fanconi's anemia    fanconi anemia, complementation group c    breast cancer

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

    Find genes that share disorders with FANCE           About GenesLikeMe

    5 Novoseek inferred disease relationships for FANCE gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 94 8 12239156 (3), 12351379 (1), 16127171 (1), 10205272 (1) (see all 6)
    hnscc 49.5 2 17409780 (1), 16466850 (1)
    cancer 36.7 2 12351379 (1), 19861535 (1)
    anemia 20.8 2 17308347 (1), 12001267 (1)
    breast cancer 12.5 2 14695169 (1)

    GeneTests: FANCE
    GeneReviews: FANCE
    Genetic Association Database (GAD): FANCE
    Human Genome Epidemiology (HuGE) Navigator: FANCE (8 documents)

    Export disorders for FANCE 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)
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    PubMed articles for FANCE gene, integrated from 10 sources (see all 76):
    (articles sorted by number of sources associating them with FANCE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. (PubMed id 11001585)1, 2, 3, 9 de Winter J.P.... Joenje H. (Am. J. Hum. Genet. 2000)
    2. Regulation of Rev1 by the Fanconi anemia core complex. (PubMed id 22266823)1, 2 Kim H.... D'Andrea A.D. (Nat. Struct. Mol. Biol. 2012)
    3. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. (PubMed id 19714462)1, 4 Loizidou M.A....Kyriacou K. (Breast Cancer Res. Treat. 2010)
    6. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PubMed id 18950845)1, 4 Vega A....Carracedo A. (Gynecol. Oncol. 2009)
    7. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PubMed id 19536649)1, 4 Barroso E....Ribas G. (Breast Cancer Res. Treat. 2009)
    8. Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. (PubMed id 19690177)1, 4 McWilliams R.R....Petersen G.M. (amp 2009)
    9. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)
    10. Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway. (PubMed id 17296736)1, 2 Wang X....D'Andrea A.D. (Mol. Cell. Biol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2178 HGNC: 3586 AceView: FANCE Ensembl:ENSG00000112039 euGenes: HUgn2178
    ECgene: FANCE Kegg: 2178 H-InvDB: FANCE

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FANCE Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FANCE Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpe.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FANCE[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/fance/

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

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



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