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

BRIP1 Gene

protein-coding   GIFtS: 71
GCID: GC17M059759

BRCA1 Interacting Protein C-Terminal Helicase 1

  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
BRCA1 Interacting Protein C-Terminal Helicase 11 2     BRCA1-Binding Helicase-Like Protein BACH12
BACH12 3 5     Fanconi Anemia Group J Protein2
FANCJ2 3 5     EC 3.6.4.133
BRCA1/BRCA2-Associated Helicase 11 2     BRCA1-Interacting Protein 13
ATP-Dependent RNA Helicase BRIP12 3     BRCA1-Interacting Protein C-Terminal Helicase 13
BRCA1-Associated C-Terminal Helicase 12 3     Protein FACJ3
OF2     EC 3.6.18

External Ids:    HGNC: 204731   Entrez Gene: 839902   Ensembl: ENSG000001364927   OMIM: 6058825   UniProtKB: Q9BX633   

Export aliases for BRIP1 gene to outside databases

Previous GC identifers: GC17M059523 GC17M062245 GC17M060101 GC17M060234 GC17M057114 GC17M055122


(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 BRIP1 Gene:
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats
of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair
function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations.
(provided by RefSeq, Jul 2008)

GeneCards Summary for BRIP1 Gene: 
BRIP1 (BRCA1 interacting protein C-terminal helicase 1) is a protein-coding gene. Diseases associated with BRIP1 include fanconi anemia, complementation group j, and breast cancer, early-onset, and among its related super-pathways are Cell Cycle / Checkpoint Control and DNA damage Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include ATP-dependent DNA helicase activity and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is DDX11.

UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63
Function: DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability.
Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand
breaks by homologous recombination in a manner that depends on its association with BRCA1

Gene Wiki entry for BRIP1 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_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BRIP1 gene promoter:
         RP58   ATF-2   Cdc5   HNF-1A   HNF-1   FOXJ2 (long isoform)   Sox9   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBRIP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BRIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRIP1


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

Entrez Gene cytogenetic band: 17q22.2   Ensembl cytogenetic band:  17q23.2   HGNC cytogenetic band: 17q22.2

BRIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRIP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M059759:  view genomic region     (about GC identifiers)

Start:
59,756,547 bp from pter      End:
59,940,920 bp from pter
Size:
184,374 bases      Orientation:
minus 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: FANCJ_HUMAN, Q9BX63 (See protein sequence)
Recommended Name: Fanconi anemia group J protein  
Size: 1249 amino acids; 140878 Da
Cofactor: Binds 1 4Fe-4S cluster
Subunit: Binds directly to the BRCT domains of BRCA1
Subcellular location: Nucleus
Sequence caution: Sequence=BAC11156.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for BRIP1:
1T29 (3D)        3AL3 (3D)    
Secondary accessions: Q3MJE2 Q8NCI5
Alternative splicing: 2 isoforms:  Q9BX63-1   Q9BX63-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRIP1: NX_Q9BX63

Explore proteomics data for BRIP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BX63

  • 2 DME Specific Peptides for BRIP1 (Q9BX63)
     LDEAHNI  PYNYLLD 

    BRIP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BRIP1 Protein Expression
    REFSEQ proteins: NP_114432.2  
    ENSEMBL proteins: 
     ENSP00000259008   ENSP00000464654   ENSP00000463272   ENSP00000463827   ENSP00000462274  
    Reactome Protein details: Q9BX63
    Human Recombinant Protein Products for BRIP1: 
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    Cloud-Clone Corp. Proteins for BRIP1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11301010
    GO:0005737cytoplasm IDA14504288
    GO:0031965nuclear membrane IDA--

    BRIP1 for ontologies           About GeneDecksing



    BRIP1 Antibody Products: 
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    Assay Products for BRIP1: 
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    Cloud-Clone Corp. ELISAs for BRIP1 
    Cloud-Clone Corp. CLIAs for BRIP1


    (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

    5/6 InterPro protein domains (see all 6):
     IPR027417 P-loop_NTPase
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR006555 ATP-dep_Helicase_C
     IPR010614 DEAD_2
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry Q9BX63

    ProtoNet protein and cluster: Q9BX63

    3 Blocks protein domains:
    IPB002464 ATP-dependent helicase
    IPB006555 Helicase c2
    IPB010614 DEAD_2


    UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63
    Domain: 4Fe-4S iron-sulfur-binding is required for helicase activity (PubMed:20639400)
    Similarity: Belongs to the DEAD box helicase family. DEAH subfamily
    Similarity: Contains 1 helicase ATP-binding domain


    BRIP1 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: FANCJ_HUMAN, Q9BX63
    Function: DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability.
    Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand
    breaks by homologous recombination in a manner that depends on its association with BRCA1
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding NAS15878853
    GO:0004003ATP-dependent DNA helicase activity NAS11301010
    GO:0005515protein binding IPI11301010
    GO:0005524ATP binding IEA--
         
    BRIP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BRIP1:
     Decreased viability with cispl  Increased gamma-H2AX phosphory  Synthetic lethal with cisplati 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BRIP1 
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    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate BRIP1 (see all 25):
    hsa-miR-582-3p hsa-miR-579 hsa-miR-3149 hsa-miR-3673 hsa-miR-16-1* hsa-miR-944 hsa-miR-373* hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidBRIP1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRIP1


    (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 BRIP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    2DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage Role of Brca1 and Brca2 in DNA repair1.00
    3Metabolism
    Metabolism0.40
    4Cytosolic Iron-sulfur Cluster Assembly
    Cytosolic Iron-sulfur Cluster Assembly
    5Fanconi anemia pathway
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for BRIP1
        DNA damage Role of Brca1 and Brca2 in DNA repair


    2 Cell Signaling Technology (CST) Pathways for BRIP1
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for BRIP1
        DNA damage Role of Brca1 and Brca2 in DNA repair

    2        Reactome Pathways for BRIP1
        Cytosolic Iron-sulfur Cluster Assembly
    Metabolism


    1         Kegg Pathway  (Kegg details for BRIP1):
        Fanconi anemia pathway


    BRIP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BRIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for BRIP1 (Q9BX631, 2, 3 ENSP000002590084) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRCA1P383981, 2, 3, ENSP000003502834EBI-3509650,EBI-349905 MINT-19306 MINT-19307 MINT-5115454 MINT-19369 MINT-5115319 MINT-5115375 MINT-5115552 MINT-19368 MINT-5115303 MINT-5115348 MINT-8141011 MINT-8140834 MINT-8140990 I2D: score=4 STRING: ENSP00000350283
    BLMP541322, 3, ENSP000003472324MINT-8140896 MINT-8140932 MINT-8140908 MINT-8140923 MINT-8141084 MINT-8141063 MINT-8140879 MINT-8151233 MINT-8140957 MINT-8140977 MINT-8151248 MINT-8141011 MINT-8141100 MINT-8140943 MINT-8141074 MINT-8140834 I2D: score=2 STRING: ENSP00000347232
    MLH1P406922, 3, ENSP000002317904MINT-5115529 MINT-5115470 MINT-5115499 MINT-5115319 MINT-5115375 MINT-5115489 MINT-5115552 MINT-5115348 MINT-5115512 MINT-5115404 MINT-5115429 I2D: score=2 STRING: ENSP00000231790
    PMS2P542782, 3, ENSP000002658494MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 I2D: score=1 STRING: ENSP00000265849
    FAM175AQ6UWZ73, ENSP000003698574I2D: score=1 STRING: ENSP00000369857
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077DNA damage checkpoint NAS14576433
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006302double-strand break repair NAS11301010
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA14504288
    GO:0044281small molecule metabolic process TAS--

    BRIP1 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 BRIP1 (FANCJ)

    Search CenterWatch for drugs/clinical trials and news about BRIP1 / FANCJ

    (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 BRIP1 gene: 
    NM_032043.2  

    Unigene Cluster for BRIP1:

    BRCA1 interacting protein C-terminal helicase 1
    Hs.128903  [show with all ESTs]
    Unigene Representative Sequence: NM_032043
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259008(uc002izk.2) ENST00000577598(uc002izl.1) ENST00000584322
    ENST00000583837 ENST00000579028 ENST00000577913
    miRNA
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    Additional mRNA sequence: 

    AF360549.1 AK074713.1 BC101472.1 BC101474.1 

    6 DOTS entries:

    DT.97838492  DT.106537  DT.204369  DT.97838493  DT.92001121  DT.40130395 

    7 AceView cDNA sequences:

    BX473990 BP352179 BQ307287 BU658463 BF799785 BQ308528 BQ309228 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BRIP1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21
    SP1:                                                                                                                          -                       -         
    SP2:                                                                                                                          -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for BRIP1

    (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

    BRIP1 expression in normal human tissues (normalized intensities)      BRIP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAGAAAT
    BRIP1 Expression
    About this image


    BRIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Breast
             breast ; myoepithelial cells   
             MAMMARY GLAND   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See BRIP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRIP1

    SOURCE GeneReport for Unigene cluster: Hs.128903

    UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63
    Tissue specificity: Ubiquitously expressed, with highest levels in testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including BRIP1: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRIP1

    (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 and fungi.

    Orthologs for BRIP1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brip11 , 5 BRCA1 interacting protein C-terminal helicase 11, 5 80.73(n)1
    75.37(a)1
      11 (51.61 cM)5
    2379111  NM_178309.21  NP_840094.11 
     860581385 
    chicken
    (Gallus gallus)
    Aves BRIP11 BRCA1 interacting protein C-terminal helicase 1 64.57(n)
    57.43(a)
      417642  NM_001033058.1  NP_001028230.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRIP16
    Uncharacterized protein
    76(a)
    1 ↔ 1
    GL343932.1(26189-108010)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686222 hypothetical protein MGC68622 74.81(n)    BC060014.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.154422 Transcribed sequence with weak similarity to protein more 75.4(n)    BM315855.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dog-11 , 3 Protein DOG-11 31(a)3
    47.91(n)1
    36.12(a)1
      I(15025514-15031021)3
    1733701  NM_061217.41  NP_493618.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHL16
    Probable DNA helicase involved in sister-chromatid...
    20(a)
    1 → many
    XVI(539385-541970)


    ENSEMBL Gene Tree for BRIP1 (if available)
    TreeFam Gene Tree for BRIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BRIP1 gene
    DDX112  RTEL12  RTEL1-TNFRSF6B2  
    2 SIMAP similar genes for BRIP1 using alignment to 5 protein entries:     FANCJ_HUMAN (see all proteins):
    CHLR1    ERCC2

    BRIP1 for paralogs           About GeneDecksing



    (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

    10/3173 SNPs in BRIP1 are shown (see all 3173)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0237034
    Fanconi anemia complementation group J (FANCJ)4--see VAR_0237032 W C mis40--------
    VAR_0237044
    Fanconi anemia complementation group J (FANCJ)4--see VAR_0237042 R C mis40--------
    VAR_0209004
    Breast cancer (BC)4--see VAR_0209002 M I mis40--------
    VAR_0237004
    Fanconi anemia complementation group J (FANCJ)4--see VAR_0237002 Q H mis40--------
    VAR_0237024
    Fanconi anemia complementation group J (FANCJ)4--see VAR_0237022 A P mis40--------
    rs289030981,2,4
    CBreast cancer (BC)4 pathogenic160953661(-) AGAGTC/GCCACA 2 P A mis1 ese33Minor allele frequency- G:0.00EU NA 4744
    rs1378529861,2
    C,Fpathogenic160809986(-) TAAAAC/TGACAA 2 R * stg11Minor allele frequency- T:0.00NA 4530
    VAR_0209014
    ----see VAR_0209012 R W mis40--------
    VAR_0209074
    ----see VAR_0209072 P L mis40--------
    rs2015398781,2
    --55124923(+) GCTGG-/GGAC  
            
    ATAGC
    1 -- ut310--------

    HapMap Linkage Disequilibrium report for BRIP1 (59756547 - 59940920 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for BRIP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2489612CNV Deletion19546169
    esv2576756CNV Deletion19546169
    nsv908674CNV Loss21882294
    nsv908673CNV Loss21882294
    nsv908675CNV Loss21882294
    esv7670CNV Gain19470904
    esv9358CNV Gain19470904
    esv259676OTHER Complex20981092


    Human Gene Mutation Database (HGMD): BRIP1

    Locus Specific Mutation Databases (LSDB): BRIP1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BRIP1
    DNA2.0 Custom Variant and Variant Library Synthesis for BRIP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605882   
    OMIM disorders: 114480  609054  
    UniProtKB/Swiss-Prot: FANCJ_HUMAN, Q9BX63
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast
    neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common
    type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated
    by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different
    families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry
  • Fanconi anemia complementation group J (FANCJ) [MIM:609054]: 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

  • 20/28 diseases for BRIP1 (see all 28):    About MalaCards
    fanconi anemia, complementation group j    breast cancer, early-onset    brip1-related fanconi anemia    brip1-related breast cancer
    breast cancer    fanconi's anemia    male breast cancer    acoustic neuroma
    hereditary pancreatitis    neuroma    familial breast cancer    anemia
    leukopenia    bloom syndrome    breast cancer susceptibility    ovarian cancer
    sporadic breast cancer    xeroderma pigmentosum    meningioma    cervical cancer

    4 diseases from the University of Copenhagen DISEASES database for BRIP1:
    Bone marrow disease     Anemia     Photosensitive trichothiodystrophy     Breast cancer

    BRIP1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for BRIP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fanconis anemia 88.1 10 16153896 (2), 18414782 (1), 16357529 (1), 17596542 (1) (see all 7)
    breast cancer 60.7 40 16430786 (5), 18414782 (3), 14983014 (3), 18628483 (3) (see all 16)
    ovarian cancer 40.8 7 12565990 (3), 18628483 (1), 14983014 (1), 19935797 (1) (see all 5)
    cancer 34.3 2 20173781 (1), 16462773 (1)
    anemia 20.6 5 17768402 (1), 17504528 (1), 19935797 (1)
    tumors 18 14 18345034 (2), 14983014 (2), 18628483 (1), 16462773 (1) (see all 8)

    GeneTests: BRIP1
    GeneReviews: BRIP1
    Genetic Association Database (GAD): BRIP1
    Human Genome Epidemiology (HuGE) Navigator: BRIP1 (38 documents)

    Export disorders for BRIP1 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 BRIP1 gene, integrated from 9 sources (see all 136):
    (articles sorted by number of sources associating them with BRIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. (PubMed id 11301010)1, 2, 3, 9 Cantor S.B....Livingston D.M. (2001)
    2. Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. (PubMed id 18414782)1, 4, 9 Guenard F....Durocher F. (2008)
    3. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. (PubMed id 14983014)1, 2, 9 Cantor S.B....Livingston D.M. (2004)
    4. No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. (PubMed id 12565990)1, 2, 9 Karppinen S.-M.... Winqvist R. (2003)
    5. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. (PubMed id 16153896)1, 2, 9 Litman R.... Cantor S.B. (2005)
    6. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. (PubMed id 15125843)1, 2, 9 Shiozaki E.N....Shi Y. (2004)
    7. Polymorphisms in BRCA1, BRCA1-interacting genes and s usceptibility of breast cancer in Chinese women. (PubMed id 19484476)1, 4, 9 Huo X....Tang J. (2009)
    8. Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. (PubMed id 15113441)1, 4, 9 Sigurdson A.J....Struewing J.P. (2004)
    9. SUVi and BACH1: a new subfamily of mammalian helicases? (PubMed id 11595410)1, 3, 9 Menichini P. and Linial M. (2001)
    10. The BRCT domain is a phospho-protein binding domain. (PubMed id 14576433)1, 2, 9 Yu X.... Chen J. (2003)

    (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: 83990 HGNC: 20473 AceView: BRIP1.1 Ensembl:ENSG00000136492 euGenes: HUgn83990
    ECgene: BRIP1 Kegg: 83990 H-InvDB: BRIP1

    (According to HUGE)
    About This Section
      --

    (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 BRIP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BRIP1 Genetics and Cytogenetics in Oncology and Haematology
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpj.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRIP1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BRIP1 gene:
    Search GeneIP for patents involving BRIP1

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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