Identity
HGNC
LOCATION
17q23.2
LOCUSID
ALIAS
BACH1,FANCJ,OF
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 83990
MIM: 605882
HGNC: 20473
Ensembl: ENSG00000136492
Variants:
dbSNP: 83990
ClinVar: 83990
TCGA: ENSG00000136492
COSMIC: BRIP1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37062450 | 2024 | Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice. | 0 |
| 38521768 | 2024 | FANCJ promotes PARP1 activity during DNA replication that is essential in BRCA1 deficient cells. | 2 |
| 37062450 | 2024 | Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice. | 0 |
| 38521768 | 2024 | FANCJ promotes PARP1 activity during DNA replication that is essential in BRCA1 deficient cells. | 2 |
| 36411032 | 2023 | UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2. | 7 |
| 36907870 | 2023 | Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis. | 1 |
| 36932143 | 2023 | Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis. | 0 |
| 37561379 | 2023 | Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma. | 1 |
| 36411032 | 2023 | UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2. | 7 |
| 36907870 | 2023 | Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis. | 1 |
| 36932143 | 2023 | Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis. | 0 |
| 37561379 | 2023 | Association of BARD1 and BRIP1 Gene Polymorphisms with the Risk of Uveal Melanoma. | 1 |
| 34585738 | 2022 | Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study. | 1 |
| 34776453 | 2022 | A Novel Role for BRIP1/FANCJ in Neuronal Cells Health and in Resolving Oxidative Stress-Induced DNA Lesions. | 6 |
| 34585738 | 2022 | Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study. | 1 |
Citation
Dessen P
BRIP1 (BRCA1 interacting helicase 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/840/brip1
