Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BRIP1 (BRCA1 interacting protein C-terminal helicase 1)

Identity

Alias_symbol (synonym)OF
BACH1
FANCJ
Other alias
HGNC (Hugo) BRIP1
LocusID (NCBI) 83990
Atlas_Id 840
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 61679186 and ends at 61863559 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BCAS3 (17q23.2) / BRIP1 (17q23.2)BRIP1 (17q23.2) / CUEDC1 (17q22)BRIP1 (17q23.2) / KIAA1468 (18q21.33)
BRIP1 (17q23.2) / TANC2 (17q23.2)BRIP1 (17q23.2) / VMP1 (17q23.1)DDX42 (17q23.3) / BRIP1 (17q23.2)
POLDIP2 (17q11.2) / BRIP1 (17q23.2)RAD54B (8q22.1) / BRIP1 (17q23.2)TAF4 (20q13.33) / BRIP1 (17q23.2)
BCAS3 17q23.2 / BRIP1 17q23.2BRIP1 17q23.2 / CUEDC1 17q22DDX42 17q23.3 / BRIP1 17q23.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  Male breast cancer
t(17;17)(q11;q23) POLDIP2/BRIP1
t(17;17)(q22;q23) BRIP1/CUEDC1
t(17;17)(q23;q23) BCAS3/BRIP1
t(17;17)(q23;q23) BRIP1/VMP1
t(17;17)(q23;q23) DDX42/BRIP1
t(17;18)(q23;q21) BRIP1/KIAA1468
t(17;20)(q23;q13) TAF4/BRIP1

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ]
  Fanconi anemia Familial Myeloproliferative Disorders Hereditary breast cancer

External links

Nomenclature
HGNC (Hugo)BRIP1   20473
LRG (Locus Reference Genomic)LRG_300
Cards
Entrez_Gene (NCBI)BRIP1  83990  BRCA1 interacting protein C-terminal helicase 1
AliasesBACH1; FANCJ; OF
GeneCards (Weizmann)BRIP1
Ensembl hg19 (Hinxton)ENSG00000136492 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136492 [Gene_View]  chr17:61679186-61863559 [Contig_View]  BRIP1 [Vega]
ICGC DataPortalENSG00000136492
TCGA cBioPortalBRIP1
AceView (NCBI)BRIP1
Genatlas (Paris)BRIP1
WikiGenes83990
SOURCE (Princeton)BRIP1
Genetics Home Reference (NIH)BRIP1
Genomic and cartography
GoldenPath hg38 (UCSC)BRIP1  -     chr17:61679186-61863559 -  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BRIP1  -     17q23.2   [Description]    (hg19-Feb_2009)
EnsemblBRIP1 - 17q23.2 [CytoView hg19]  BRIP1 - 17q23.2 [CytoView hg38]
Mapping of homologs : NCBIBRIP1 [Mapview hg19]  BRIP1 [Mapview hg38]
OMIM114480   189960   605882   609054   
Gene and transcription
Genbank (Entrez)AF360549 AK074713 BC101472 BC101474
RefSeq transcript (Entrez)NM_032043
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BRIP1
Cluster EST : UnigeneHs.128903 [ NCBI ]
CGAP (NCI)Hs.128903
Alternative Splicing GalleryENSG00000136492
Gene ExpressionBRIP1 [ NCBI-GEO ]   BRIP1 [ EBI - ARRAY_EXPRESS ]   BRIP1 [ SEEK ]   BRIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)BRIP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83990
GTEX Portal (Tissue expression)BRIP1
Human Protein AtlasENSG00000136492-BRIP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BX63   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BX63  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BX63
Splice isoforms : SwissVarQ9BX63
Catalytic activity : Enzyme3.6.4.13 [ Enzyme-Expasy ]   3.6.4.133.6.4.13 [ IntEnz-EBI ]   3.6.4.13 [ BRENDA ]   3.6.4.13 [ KEGG ]   
PhosPhoSitePlusQ9BX63
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_2 (PS51193)   
Domains : Interpro (EBI)ATP-dep_Helicase_C    DEAD_2    DNA_helicase_DNA-repair_Rad3    Helic_SF1/SF2_ATP-bd_DinG/Rad3    Helicase-like_DEXD_c2    Helicase_ATP-bd    P-loop_NTPase   
Domain families : Pfam (Sanger)DEAD_2 (PF06733)    Helicase_C_2 (PF13307)   
Domain families : Pfam (NCBI)pfam06733    pfam13307   
Domain families : Smart (EMBL)DEXDc (SM00487)  DEXDc2 (SM00488)  HELICc2 (SM00491)  
Conserved Domain (NCBI)BRIP1
DMDM Disease mutations83990
Blocks (Seattle)BRIP1
PDB (SRS)1T15    1T29    3AL3   
PDB (PDBSum)1T15    1T29    3AL3   
PDB (IMB)1T15    1T29    3AL3   
PDB (RSDB)1T15    1T29    3AL3   
Structural Biology KnowledgeBase1T15    1T29    3AL3   
SCOP (Structural Classification of Proteins)1T15    1T29    3AL3   
CATH (Classification of proteins structures)1T15    1T29    3AL3   
SuperfamilyQ9BX63
Human Protein Atlas [tissue]ENSG00000136492-BRIP1 [tissue]
Peptide AtlasQ9BX63
HPRD05797
IPIIPI00012500   IPI00514398   
Protein Interaction databases
DIP (DOE-UCLA)Q9BX63
IntAct (EBI)Q9BX63
FunCoupENSG00000136492
BioGRIDBRIP1
STRING (EMBL)BRIP1
ZODIACBRIP1
Ontologies - Pathways
QuickGOQ9BX63
Ontology : AmiGODNA damage checkpoint  DNA synthesis involved in DNA repair  strand displacement  DNA binding  chromatin binding  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  DNA replication  double-strand break repair  regulation of transcription by RNA polymerase II  spermatogonial cell division  spermatid development  negative regulation of cell proliferation  response to toxic substance  negative regulation of gene expression  meiotic DNA double-strand break processing involved in reciprocal meiotic recombination  nuclear membrane  DNA duplex unwinding  metal ion binding  chiasma assembly  4 iron, 4 sulfur cluster binding  cellular response to vitamin  cellular response to hypoxia  seminiferous tubule development  regulation of signal transduction by p53 class mediator  cellular response to angiotensin  double-strand break repair involved in meiotic recombination  
Ontology : EGO-EBIDNA damage checkpoint  DNA synthesis involved in DNA repair  strand displacement  DNA binding  chromatin binding  ATP-dependent DNA helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  DNA replication  double-strand break repair  regulation of transcription by RNA polymerase II  spermatogonial cell division  spermatid development  negative regulation of cell proliferation  response to toxic substance  negative regulation of gene expression  meiotic DNA double-strand break processing involved in reciprocal meiotic recombination  nuclear membrane  DNA duplex unwinding  metal ion binding  chiasma assembly  4 iron, 4 sulfur cluster binding  cellular response to vitamin  cellular response to hypoxia  seminiferous tubule development  regulation of signal transduction by p53 class mediator  cellular response to angiotensin  double-strand break repair involved in meiotic recombination  
NDEx NetworkBRIP1
Atlas of Cancer Signalling NetworkBRIP1
Wikipedia pathwaysBRIP1
Orthology - Evolution
OrthoDB83990
GeneTree (enSembl)ENSG00000136492
Phylogenetic Trees/Animal Genes : TreeFamBRIP1
HOVERGENQ9BX63
HOGENOMQ9BX63
Homologs : HomoloGeneBRIP1
Homology/Alignments : Family Browser (UCSC)BRIP1
Gene fusions - Rearrangements
Fusion : MitelmanBCAS3/BRIP1 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanBRIP1/CUEDC1 [17q23.2/17q22]  [t(17;17)(q22;q23)]  
Fusion : MitelmanBRIP1/VMP1 [17q23.2/17q23.1]  [t(17;17)(q23;q23)]  
Fusion : MitelmanDDX42/BRIP1 [17q23.3/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanPOLDIP2/BRIP1 [17q11.2/17q23.2]  [t(17;17)(q11;q23)]  
Fusion : MitelmanTAF4/BRIP1 [20q13.33/17q23.2]  [t(17;20)(q23;q13)]  
Fusion: TCGA_MDACCBCAS3 17q23.2 BRIP1 17q23.2 BRCA
Fusion: TCGA_MDACCBRIP1 17q23.2 CUEDC1 17q22 BRCA
Fusion: TCGA_MDACCDDX42 17q23.3 BRIP1 17q23.2 BRCA
Fusion PortalBCAS3 17q23.2 BRIP1 17q23.2 BRCA
Fusion PortalBRIP1 17q23.2 CUEDC1 17q22 BRCA
Fusion PortalDDX42 17q23.3 BRIP1 17q23.2 BRCA
Fusion : QuiverBRIP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBRIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BRIP1
dbVarBRIP1
ClinVarBRIP1
1000_GenomesBRIP1 
Exome Variant ServerBRIP1
ExAC (Exome Aggregation Consortium)ENSG00000136492
GNOMAD BrowserENSG00000136492
Genetic variants : HAPMAP83990
Genomic Variants (DGV)BRIP1 [DGVbeta]
DECIPHERBRIP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBRIP1 
Mutations
ICGC Data PortalBRIP1 
TCGA Data PortalBRIP1 
Broad Tumor PortalBRIP1
OASIS PortalBRIP1 [ Somatic mutations - Copy number]
Cancer Gene: CensusBRIP1 
Somatic Mutations in Cancer : COSMICBRIP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBRIP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch BRIP1
DgiDB (Drug Gene Interaction Database)BRIP1
DoCM (Curated mutations)BRIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BRIP1 (select a term)
intoGenBRIP1
Cancer3DBRIP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114480    189960    605882    609054   
Orphanet634    3384   
DisGeNETBRIP1
MedgenBRIP1
Genetic Testing Registry BRIP1
NextProtQ9BX63 [Medical]
TSGene83990
GENETestsBRIP1
Target ValidationBRIP1
Huge Navigator BRIP1 [HugePedia]
snp3D : Map Gene to Disease83990
BioCentury BCIQBRIP1
ClinGenBRIP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83990
Chemical/Pharm GKB GenePA134906421
Clinical trialBRIP1
Miscellaneous
canSAR (ICR)BRIP1 (select the gene name)
Probes
Litterature
PubMed147 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBRIP1
EVEXBRIP1
GoPubMedBRIP1
iHOPBRIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Feb 28 13:03:25 CET 2018
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