Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BRIP1 (BRCA1 interacting protein C-terminal helicase 1)

Identity

Alias (NCBI)BACH1
FANCJ
OF
HGNC (Hugo) BRIP1
HGNC Alias symbOF
BACH1
FANCJ
HGNC Alias nameBRCA1/BRCA2-associated helicase 1
LocusID (NCBI) 83990
Atlas_Id 840
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 61679139 and ends at 61863528 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
BCAS3/BRIP1 (17q23)
BRIP1/VMP1 (17q23)
DDX42/BRIP1 (17q23)
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    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]  ENSG00000136492 [Sequence]  chr17:61679139-61863528 [Contig_View]  BRIP1 [Vega]
ICGC DataPortalENSG00000136492
TCGA cBioPortalBRIP1
AceView (NCBI)BRIP1
Genatlas (Paris)BRIP1
SOURCE (Princeton)BRIP1
Genetics Home Reference (NIH)BRIP1
Genomic and cartography
GoldenPath hg38 (UCSC)BRIP1  -     chr17:61679139-61863528 -  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BRIP1  -     17q23.2   [Description]    (hg19-Feb_2009)
GoldenPathBRIP1 - 17q23.2 [CytoView hg19]  BRIP1 - 17q23.2 [CytoView hg38]
ImmunoBaseENSG00000136492
genome Data Viewer NCBIBRIP1 [Mapview hg19]  
OMIM114480   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
Alternative Splicing GalleryENSG00000136492
Gene ExpressionBRIP1 [ NCBI-GEO ]   BRIP1 [ EBI - ARRAY_EXPRESS ]   BRIP1 [ SEEK ]   BRIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)BRIP1 [ Firebrowse - Broad ]
GenevisibleExpression of BRIP1 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 ]   [ MEROPS ]
PhosPhoSitePlusQ9BX63
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_2 (PS51193)   
Domains : Interpro (EBI)ATP-dep_Helicase_C    DEAD_2    Helic_SF1/SF2_ATP-bd_DinG/Rad3    Helicase-like_DEXD_c2    Helicase_ATP-bd    P-loop_NTPase    Rad3/Chl1-like   
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
Blocks (Seattle)BRIP1
PDB (RSDB)1T15    1T29    3AL3   
PDB Europe1T15    1T29    3AL3   
PDB (PDBSum)1T15    1T29    3AL3   
PDB (IMB)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
BioGRIDBRIP1
STRING (EMBL)BRIP1
ZODIACBRIP1
Ontologies - Pathways
QuickGOQ9BX63
Ontology : AmiGODNA damage checkpoint  DNA binding  DNA helicase activity  DNA helicase activity  chromatin binding  RNA helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA replication  nucleotide-excision repair  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 binding  DNA helicase activity  DNA helicase activity  chromatin binding  RNA helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA replication  nucleotide-excision repair  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  
Pathways : KEGGFanconi anemia pathway   
NDEx NetworkBRIP1
Atlas of Cancer Signalling NetworkBRIP1
Wikipedia pathwaysBRIP1
Orthology - Evolution
OrthoDB83990
GeneTree (enSembl)ENSG00000136492
Phylogenetic Trees/Animal Genes : TreeFamBRIP1
HOGENOMQ9BX63
Homologs : HomoloGeneBRIP1
Homology/Alignments : Family Browser (UCSC)BRIP1
Gene fusions - Rearrangements
Fusion : MitelmanBCAS3/BRIP1 [17q23.2/17q23.2]  
Fusion : MitelmanBRIP1/CUEDC1 [17q23.2/17q22]  
Fusion : MitelmanBRIP1/VMP1 [17q23.2/17q23.1]  
Fusion : MitelmanDDX42/BRIP1 [17q23.3/17q23.2]  
Fusion : MitelmanPOLDIP2/BRIP1 [17q11.2/17q23.2]  
Fusion : MitelmanTAF4/BRIP1 [20q13.33/17q23.2]  
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]
dbVarBRIP1
ClinVarBRIP1
MonarchBRIP1
1000_GenomesBRIP1 
Exome Variant ServerBRIP1
GNOMAD BrowserENSG00000136492
Varsome BrowserBRIP1
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]  
Somatic Mutations in Cancer : COSMIC3DBRIP1
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114480    605882    609054   
Orphanet634    3384   
DisGeNETBRIP1
MedgenBRIP1
Genetic Testing Registry BRIP1
NextProtQ9BX63 [Medical]
GENETestsBRIP1
Target ValidationBRIP1
Huge Navigator BRIP1 [HugePedia]
ClinGenBRIP1
Clinical trials, drugs, therapy
MyCancerGenomeBRIP1
Protein Interactions : CTD
Pharm GKB GenePA134906421
PharosQ9BX63
Clinical trialBRIP1
Miscellaneous
canSAR (ICR)BRIP1 (select the gene name)
HarmonizomeBRIP1
DataMed IndexBRIP1
Probes
Litterature
PubMed173 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBRIP1
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 : Fri Jan 1 18:07:32 CET 2021
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