BRIP1

Summary

BRIP1 (BRCA1 interacting DNA helicase 1, HGNC:20473) is a protein-coding gene on chromosome 17q23.2, encoding Fanconi anemia group J protein (Q9BX63). DNA-dependent ATPase and 5’-3’ DNA helicase required for the maintenance of chromosomal stability. In precision oncology, BRIP1 Mutation confers sensitivity to Olaparib in Castration-resistant Prostate Carcinoma (CIViC Level A). It is haploinsufficient (ClinGen: sufficient evidence).

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.

Source: NCBI Gene 83990 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group J (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 6,492 total — 636 pathogenic, 187 likely-pathogenic
• Phenotypes (HPO): 120
• Precision-oncology evidence (CIViC): 1 curated variant–drug association
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_032043

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20473
Approved symbol	BRIP1
Name	BRCA1 interacting DNA helicase 1
Location	17q23.2
Locus type	gene with protein product
Status	Approved
Aliases	OF, BACH1, FANCJ
Ensembl gene	ENSG00000136492
Ensembl biotype	protein_coding
OMIM	605882
Entrez	83990

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 16 protein_coding, 7 nonsense_mediated_decay, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000259008, ENST00000577598, ENST00000577913, ENST00000579028, ENST00000583837, ENST00000584322, ENST00000682066, ENST00000682073, ENST00000682369, ENST00000682433, ENST00000682453, ENST00000682477, ENST00000682589, ENST00000682611, ENST00000682755, ENST00000682989, ENST00000683039, ENST00000683235, ENST00000683381, ENST00000683535, ENST00000683672, ENST00000683692, ENST00000684471, ENST00000684584, ENST00000684626, ENST00000684769, ENST00000854938, ENST00000854939, ENST00000923498, ENST00000923499

RefSeq mRNA: 1 — MANE Select: NM_032043 NM_032043

CCDS: CCDS11631

Canonical transcript exons

ENST00000259008 — 20 exons

Exon	Start	End
ENSE00000925234	61685836	61686165
ENSE00000925235	61693430	61693512
ENSE00000925236	61715951	61716063
ENSE00000925237	61743013	61743134
ENSE00000925238	61744432	61744591
ENSE00000925242	61784270	61784424
ENSE00000925243	61793597	61793729
ENSE00000925244	61799100	61799299
ENSE00000925245	61801253	61801474
ENSE00000925246	61808467	61808757
ENSE00000925247	61847101	61847220
ENSE00000925248	61849129	61849256
ENSE00000925249	61857058	61857231
ENSE00000925250	61859796	61859907
ENSE00001132193	61679139	61684140
ENSE00001243809	61861447	61861569
ENSE00002726449	61863284	61863528
ENSE00003492359	61780840	61781005
ENSE00003552454	61780261	61780401
ENSE00003604244	61776401	61776562

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 85.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.8489 / max 196.9325, expressed in 1278 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167406	9.8468	1224
167405	1.6613	523
167404	0.2321	114
167402	0.1087	71

Top tissues by expression

278 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	85.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.39	gold quality
secondary oocyte	CL:0000655	79.95	gold quality
ganglionic eminence	UBERON:0004023	78.42	gold quality
stromal cell of endometrium	CL:0002255	74.65	gold quality
bone marrow	UBERON:0002371	72.91	gold quality
adrenal tissue	UBERON:0018303	72.16	gold quality
oocyte	CL:0000023	70.35	gold quality
bone marrow cell	CL:0002092	70.27	gold quality
embryo	UBERON:0000922	69.87	gold quality
testis	UBERON:0000473	69.05	gold quality
trabecular bone tissue	UBERON:0002483	69.03	gold quality
left testis	UBERON:0004533	68.18	gold quality
amniotic fluid	UBERON:0000173	68.08	gold quality
right testis	UBERON:0004534	67.91	gold quality
colonic epithelium	UBERON:0000397	67.42	gold quality
rectum	UBERON:0001052	67.09	gold quality
ileal mucosa	UBERON:0000331	65.33	silver quality
epithelium of nasopharynx	UBERON:0001951	63.81	silver quality
duodenum	UBERON:0002114	63.77	gold quality
vermiform appendix	UBERON:0001154	63.08	gold quality
colonic mucosa	UBERON:0000317	63.02	gold quality
endometrium	UBERON:0001295	62.83	gold quality
mucosa of sigmoid colon	UBERON:0004993	62.70	gold quality
lymph node	UBERON:0000029	62.65	gold quality
esophagus mucosa	UBERON:0002469	62.55	gold quality
upper leg skin	UBERON:0004262	62.41	gold quality
thymus	UBERON:0002370	62.24	silver quality
calcaneal tendon	UBERON:0003701	61.54	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	81.54
E-CURD-97	no	863.44
E-HCAD-8	no	25.60
E-ANND-3	no	5.39

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
BARD1	Unknown
CHL1
MLH1	Unknown

Upstream regulators (CollecTRI, top): FOXM1

miRNA regulators (miRDB)

129 targeting BRIP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3692-3P	99.98	70.27	2139

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• BRIP1 missense mutation found in a BRCA1/2-negative proband with breast cancer. (PMID:12872252)
• findings show that the BRCA1 BRCT domain directly interacts with phosphorylated BACH1; interaction is cell cycle regulated and required for DNA damage-induced checkpoint control during the transition from G2 to M phase of the cell cycle (PMID:14576433)
• The phosphorylated serine 990 and phenylalanine 993 of BACH1 anchor the binding to BRCA1 through specific interactions with a surface cleft at the junction of the two BRCT repeats (PMID:15125843)
• the X-ray crystal structure at a resolution of 1.85 A of the BRCA1 tandem BRCT domains in complex with a phosphorylated peptide representing the minimal interacting region of the DEAH-box helicase BACH1. (PMID:15133502)
• BACH1 requires nucleic acid continuity in the 5 ’ ssDNA tail of the forked duplex substrate within six nucleotides of the ssDNA-dsDNA junction to initiate efficiently DNA unwinding (PMID:15878853)
• Single Nucleotide Polymorphism in BRIP1 is associated with Fanconi anemia (PMID:16116424)
• BACH1 is FANCJ in a Fanconi anemia patient. (PMID:16153896)
• Mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. (PMID:17033622)
• Possible association of this protein with ovarian cancer risks warrants confirmation in independent case-control studies. (PMID:17342202)
• predicts a broader role for FANCJ in DNA damage signaling independent of BRCA1 (PMID:17581638)
• FANCJ-replication protein A interaction is likely to be important for the role of the helicase to more efficiently unwind DNA repair intermediates to maintain genomic stability (PMID:17596542)
• Results point to a critical role for BACH1 helicase activity not only in the timely progression through the S phase by association with BRCA1/BRCA2, but also in maintaining genomic stability. (PMID:17664283)
• Brip1 is a genuine target gene for the E2F/Rb pathway; elevated expression levels of Brip1 are detected in primary invasive breast carcinomas with unfavorable characteristics. (PMID:18345034)
• Unlikely to be a high-risk predisposition gene in non-BRCA1/2 high-risk families but may be associated with other cancers. (PMID:18414782)
• a FANCJ helicase mutant unwinds G-quadruplex DNA to defend genomic stability (PMID:18426915)
• germline mutations in BRIP1/BACH are extremely rare in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives (PMID:18483852)
• analysis of how the breast cancer genes ATM, BRIP1, PALB2 and CHEK2 affect risk for women with strong family histories [review] (PMID:18557994)
• evidence of a breast cancer-related role for BRIP1. (PMID:18628483)
• FANCJ (BACH1) has a role in the maintenance of potentially unstable genomic G/C tracts during replication (PMID:18978354)
• no defect in FANCD2 ubiquitination, BRCA2 and FANCJ expression; absence of FANCN protein in three cell lines: HT, Sudhl4 and JEKO-1. (PMID:19011769)
• The rare allele of BRIP1 rs2191249 shows evidence of association with a poorer prognosis in breast neoplasms. (PMID:19064565)
• recurrent truncating germline mutation in the BRIP1 gene is associated with prostate cancer. (PMID:19127258)
• FANCJ can inhibit RAD51 strand exchange, an activity that is likely to be important for its role in controlling DNA repair through homologous recombination. (PMID:19150983)
• specific functional interaction between RPA and FANCJ on the thymine glycol substrates (PMID:19419957)
• Our results suggest that large genomic deletions in BRIP1/FANCJ, PALB2/FANCN, and FANCD2 do not contribute significantly to the familial breast cancer risk in the Dutch population (PMID:19504183)
• Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. (PMID:19748364)
• CHEK2_1100delC and BRIP1 mutations incidence in Ireland is similar to that found in other unselected breast cancer cohorts from northern European countries. (PMID:19763819)
• Epac inhibits migration and proliferation of human prostate carcinoma cells. (PMID:19935797)
• The interaction between TopBP1 and BACH1 is required for the extension of single-stranded DNA regions and RPA loading following replication stress, which is a prerequisite for the subsequent activation of replication checkpoint. (PMID:20159562)
• in human cells BRCA1 binding to FANCJ is critical to regulate DNA repair choice and promote genomic stability. (PMID:20173781)
• FancB (FAAP95, FA core complex)showed differences in methylation in HNSCC. (PMID:20332657)
• Genomic rearrangements of the BRIP1 gene is associated with breast cancer. (PMID:20567916)
• recombinant FANCJ-A349P protein had reduced iron and was defective in coupling ATP hydrolysis and translocase activity to unwinding forked duplex or G-quadruplex DNA substrates or disrupting protein-DNA complexes (PMID:20639400)
• FANCJ is recruited in response to replication stress and serves to link FANCD2 to BRCA1. (PMID:20676667)
• we uncover an MLH1 clinical mutation with a leucine (L)-to-histidine (H) amino acid change at position 607 in hereditary nonpolyposis colon cancer that ablates MLH1 binding to FANCJ (PMID:20978114)
• Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. (PMID:21127055)
• BRIP1 gene variants may not play a relevant role in Male Breast Cancer predisposition (PMID:21165771)
• FANCJ catalytic activity and its effect on BLM protein stability contribute to preservation of genomic stability and a normal response to replication stress. (PMID:21240188)
• The BRIP1 gene was screened for mutations in well-characterized, Finnish, high-risk hereditary breast and/or ovarian cancer individuals. (PMID:21356067)
• six missense variants predicted to be causative were detected, one in BRIP1 and five in PALB2 (PMID:21409391)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	brip1	ENSDARG00000074410
mus_musculus	Brip1	ENSMUSG00000034329
caenorhabditis_elegans	dog-1	WBGENE00001049

Paralogs (3): DDX11 (ENSG00000013573), ERCC2 (ENSG00000104884), RTEL1 (ENSG00000258366)

Protein

Protein identifiers

Fanconi anemia group J protein — Q9BX63 (reviewed: Q9BX63)

Alternative names: BRCA1-associated C-terminal helicase 1, BRCA1-interacting protein C-terminal helicase 1, DNA 5’-3’ helicase FANCJ

All UniProt accessions (15): A0A804HHV8, A0A804HIH9, A0A804HIR6, A0A804HJU1, A0A804HJV4, A0A804HJY1, A0A804HK62, A0A804HKK6, A0A804HKS0, A0A804HL36, A0A804HLF1, Q9BX63, J3KS24, J3QKX0, J3QQP5

UniProt curated annotations — full annotation on UniProt →

Function. DNA-dependent ATPase and 5’-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. Involved in the repair of abasic sites at replication forks by promoting the degradation of DNA-protein cross-links: acts by catalyzing unfolding of HMCES DNA-protein cross-link via its helicase activity, exposing the underlying DNA and enabling cleavage of the DNA-protein adduct by the SPRTN metalloprotease. Can unwind RNA:DNA substrates. Unwinds G-quadruplex DNA; unwinding requires a 5’-single stranded tail.

Subunit / interactions. Interacts with the replication protein A complex (RPA) via the RPA1 subunit; following DNA damage they colocalize in foci in the nucleus. Binds directly to the BRCT domains of BRCA1. Interacts with the CIA complex components CIAO1, CIAO2B and MMS19.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Ubiquitously expressed, with highest levels in testis.

Post-translational modifications. Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated. Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.

Disease relevance. 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. Disease susceptibility is associated with variants 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. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Helicase activity on forked substrates is stimulated by replication protein A complex heterotrimer (RPA1, RPA2, RPA3). Helicase activity on G-quadruplex DNA is stimulated 3-fold by RPA, and inhibited by MSH2/MSH6. Unwinding of G-quadruplex DNA is inhibited by ATP-gamma-S and telomestatin (TMS); TMA does not inhibit unwinding of forked-duplex DNA. Helicase activity on dsDNA and G-quadruplex DNA is inhibited by porphyrin derivatives meso-tetra (N-methyl-4-pyridyl) porphine tetra tosylate (T4) and N-methyl mesoporphyrin IX (NMM).

Cofactor. Binds 1 [4Fe-4S] cluster.

Domain organisation. 4Fe-4S iron-sulfur-binding is required for helicase activity.

Similarity. Belongs to the DEAD box helicase family. DEAH subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BX63-1	1	yes
Q9BX63-2	2

RefSeq proteins (1): NP_114432* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006554	Helicase-like_DEXD_c2	Domain
IPR006555	ATP-dep_Helicase_C	Domain
IPR010614	RAD3-like_helicase_DEAD	Domain
IPR013020	Rad3/Chl1-like	Family
IPR014001	Helicase_ATP-bd	Domain
IPR014013	Helic_SF1/SF2_ATP-bd_DinG/Rad3	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR045028	DinG/Rad3-like	Family

Pfam: PF06733, PF13307

Enzyme classification (BRENDA):

• EC 3.6.4.12 — DNA helicase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (63 total): sequence variant 19, mutagenesis site 15, modified residue 9, binding site 5, region of interest 4, compositionally biased region 3, splice variant 2, short sequence motif 2, sequence conflict 2, chain 1, domain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1T15	X-RAY DIFFRACTION	1.85
3AL3	X-RAY DIFFRACTION	2.15
1T29	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BX63-F1	64.19	0.35

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 185–192; 283; 298; 310; 350

Post-translational modifications (9): 505, 927, 930, 956, 990, 1004, 1032, 1237, 1249

Mutagenesis-validated functional residues (15):

Position	Phenotype
52	abolishes atpase and dsdna helicase activities, preventing ability to unfold dna-protein cross-links. does not unwind g-
986	does not affect the interaction with brca1.
988	does not affect the interaction with brca1.
989	does not affect the interaction with brca1.
990	disrupts the interaction with brca1.
991	abolishes phosphorylation of s-990. impairs the interaction with brca1.
992	does not affect the interaction with brca1.
993	abolishes phosphorylation of s-990. impairs the interaction with brca1.
997	does not affect the interaction with brca1.
1001	does not affect the interaction with brca1.
1003	does not affect the interaction with brca1.
1004	does not affect the interaction with brca1.
1007	does not affect the interaction with brca1.
1011	does not affect the interaction with brca1.
1013	does not affect the interaction with brca1.

Function

Pathways and Gene Ontology

Reactome pathways

15 pathways

ID	Pathway
R-HSA-2564830	Cytosolic iron-sulfur cluster assembly
R-HSA-5685938	HDR through Single Strand Annealing (SSA)
R-HSA-5685942	HDR through Homologous Recombination (HRR)
R-HSA-5693554	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568	Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579	Homologous DNA Pairing and Strand Exchange
R-HSA-5693607	Processing of DNA double-strand break ends
R-HSA-5693616	Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
R-HSA-69473	G2/M DNA damage checkpoint
R-HSA-9701192	Defective homologous recombination repair (HRR) due to BRCA1 loss of function
R-HSA-9704331	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
R-HSA-9704646	Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
R-HSA-9709570	Impaired BRCA2 binding to RAD51
R-HSA-9709603	Impaired BRCA2 binding to PALB2

MSigDB gene sets: 844 (showing top): PID_FANCONI_PATHWAY, GSE45365_NK_CELL_VS_BCELL_UP, GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GGGACCA_MIR133A_MIR133B, GOBP_CHROMOSOME_ORGANIZATION, AP1_01, ACTACCT_MIR196A_MIR196B, FREAC2_01, BROWNE_HCMV_INFECTION_6HR_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_255, FISCHER_G1_S_CELL_CYCLE, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, AAGCCAT_MIR135A_MIR135B, GOBP_CELL_CYCLE_PHASE_TRANSITION

GO Biological Process (19): DNA damage checkpoint signaling (GO:0000077), DNA repair (GO:0006281), nucleotide-excision repair (GO:0006289), double-strand break repair (GO:0006302), regulation of transcription by RNA polymerase II (GO:0006357), spermatogonial cell division (GO:0007284), spermatid development (GO:0007286), meiotic DNA double-strand break processing involved in reciprocal meiotic recombination (GO:0010705), homologous recombination (GO:0035825), chiasma assembly (GO:0051026), seminiferous tubule development (GO:0072520), protein-DNA covalent cross-linking repair (GO:0106300), double-strand break repair involved in meiotic recombination (GO:1990918), nucleobase-containing compound metabolic process (GO:0006139), DNA damage response (GO:0006974), homologous chromosome pairing at meiosis (GO:0007129), spermatogenesis (GO:0007283), male gonad development (GO:0008584), interstrand cross-link repair (GO:0036297)

GO Molecular Function (17): DNA binding (GO:0003677), DNA helicase activity (GO:0003678), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), 5’-3’ DNA helicase activity (GO:0043139), metal ion binding (GO:0046872), 4 iron, 4 sulfur cluster binding (GO:0051539), catalytic activity, acting on a nucleic acid (GO:0140640), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), RNA helicase activity (GO:0003724), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818), isomerase activity (GO:0016853), iron-sulfur cluster binding (GO:0051536)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), replication fork (GO:0005657), cytoplasm (GO:0005737), nuclear membrane (GO:0031965), BRCA1-B complex (GO:0070532)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	3
Resolution of D-Loop Structures	2
Defective homologous recombination repair (HRR) due to PALB2 loss of function	2
Defective homologous recombination repair (HRR) due to BRCA2 loss of function	2
Metabolism	1
HDR through Homologous Recombination (HRR)	1
Homologous DNA Pairing and Strand Exchange	1
Regulation of TP53 Activity	1
G2/M Checkpoints	1
Diseases of DNA Double-Strand Break Repair	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA repair	4
reciprocal meiotic recombination	3
catalytic activity	3
cellular anatomical structure	3
meiotic cell cycle process	2
helicase activity	2
ATP-dependent activity	2
binding	2
DNA integrity checkpoint signaling	1
signal transduction in response to DNA damage	1
DNA metabolic process	1
DNA damage response	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
spermatogenesis	1
cell division	1
germ cell development	1
spermatid differentiation	1
meiotic DNA double-strand break processing	1
DNA recombination	1
homologous chromosome pairing at meiosis	1
cellular component assembly	1
male gonad development	1
tube development	1
reproductive structure development	1
double-strand break repair	1
primary metabolic process	1
cellular response to stress	1
homologous chromosome segregation	1
chromosome organization involved in meiotic cell cycle	1
developmental process involved in reproduction	1
male gamete generation	1
gonad development	1
development of primary male sexual characteristics	1
nucleic acid binding	1
ATP-dependent activity, acting on DNA	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
DNA helicase activity	1

Protein interactions and networks

STRING

1867 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BRIP1	BRCA1	P38398	997
BRIP1	FANCD2	Q9BXW9	993
BRIP1	FANCI	Q9NVI1	993
BRIP1	TOPBP1	Q92547	985
BRIP1	PALB2	Q86YC2	980
BRIP1	BRCA2	P51587	975
BRIP1	FANCM	Q8IYD8	964
BRIP1	MLH1	P40692	951
BRIP1	FANCB	Q8NB91	917
BRIP1	FANCL	Q9NW38	910
BRIP1	FANCC	Q00597	906
BRIP1	FANCE	Q9HB96	895
BRIP1	FANCA	O15360	890
BRIP1	FANCF	Q9NPI8	883
BRIP1	FANCG	O15287	876

IntAct

153 interactions, top by confidence:

A	B	Type	Score
BRCA1	BRIP1	psi-mi:“MI:0915”(physical association)	0.980
BRIP1	BRCA1	psi-mi:“MI:0914”(association)	0.980
BRIP1	BRCA1	psi-mi:“MI:0403”(colocalization)	0.980
BRCA1	BRIP1	psi-mi:“MI:0407”(direct interaction)	0.980
BRIP1	BRCA1	psi-mi:“MI:0915”(physical association)	0.980
BRCA1	BRIP1	psi-mi:“MI:0914”(association)	0.980
MLH1	PMS2	psi-mi:“MI:0914”(association)	0.970
MLH1	BRIP1	psi-mi:“MI:0915”(physical association)	0.940
BRIP1	MLH1	psi-mi:“MI:0914”(association)	0.940

BioGRID (252): BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-Western), BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), BRIP1 (Affinity Capture-MS), BRIP1 (Proximity Label-MS), BARD1 (Affinity Capture-Western), BRCA1 (Affinity Capture-Western), CBX3 (Affinity Capture-Western), HIST1H3A (Affinity Capture-Western)

ESM2 similar proteins: A0A8J1M587, A3KMI0, A6ZL17, A8WS58, B0W9F4, B2RR83, B3LN76, B3MMA5, B3MSG8, B3NSW1, B4GS98, B4GU19, B4I0K4, B4JNS2, B4L1Z2, B4M891, B4M9A8, B4MX21, B4NDG5, B4PZB4, B5VE38, O18017, P32863, P38086, P41410, Q0PCS3, Q16X92, Q19546, Q21489, Q29FS3, Q29KH2, Q3YK19, Q5D892, Q5R746, Q5SXJ3, Q6P158, Q6P5D3, Q7QEI1, Q7Z478, Q93575

Diamond homologs: A0A0P0V4R0, A0A8J1M587, A4K436, B0W9F4, B3MSG8, B3NSW1, B4GU19, B4I0K4, B4JNS2, B4L1Z2, B4M891, B4NDG5, B4PZB4, P0C928, Q0VGM9, Q16X92, Q29FS3, Q3YK19, Q5RE34, Q5RJZ1, Q5SXJ3, Q6H1L8, Q7QEI1, Q9BX63, Q9NZ71, Q9W484, A8WS58, F4HQE2, Q93575

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
BRIP1	“up-regulates activity”	BRCA1	binding
BRIP1	“up-regulates quantity by stabilization”	BLM	binding
RPA1	“up-regulates activity”	BRIP1	binding
BRIP1	“form complex”	“BRCA1-B complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 104 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
HDR through Homologous Recombination (HRR)	5	13.4×	2e-03
SUMOylation of DNA damage response and repair proteins	6	12.4×	2e-03
G2/M DNA damage checkpoint	6	10.2×	2e-03
Processing of DNA double-strand break ends	6	9.7×	2e-03
Diseases of signal transduction by growth factor receptors and second messengers	8	6.4×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of DNA repair	5	19.5×	2e-03
epidermal growth factor receptor signaling pathway	5	13.5×	5e-03
double-strand break repair	6	13.2×	2e-03
double-strand break repair via homologous recombination	7	11.9×	2e-03
chromosome segregation	6	11.3×	3e-03

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

6492 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	636
Likely pathogenic	187
Uncertain significance	3220
Likely benign	1122
Benign	145

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1013137	NM_032043.3(BRIP1):c.627+2T>C	Pathogenic
1068503	NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)	Pathogenic
1068821	NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter)	Pathogenic
1069129	NM_032043.3(BRIP1):c.2670del (p.Val891fs)	Pathogenic
1069454	NM_032043.3(BRIP1):c.71dup (p.Gln25fs)	Pathogenic
1069522	NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)	Pathogenic
1069754	NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)	Pathogenic
1070348	NM_032043.3(BRIP1):c.2197del (p.Thr733fs)	Pathogenic
1070392	NC_000017.10:g.(?59861621)(59861795_?)del	Pathogenic
1070540	NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer)	Pathogenic
1072409	NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)	Pathogenic
1073531	NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)	Pathogenic
1073805	NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)	Pathogenic
1073980	NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)	Pathogenic
1074046	NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)	Pathogenic
1074235	NM_032043.3(BRIP1):c.1801del (p.Ser601fs)	Pathogenic
1074435	NC_000017.10:g.(?59770781)(59938900_?)del	Pathogenic
1074436	NC_000017.10:g.(?59926480)(59934602_?)del	Pathogenic
1074437	NC_000017.10:g.(?59876451)(59886128_?)del	Pathogenic
1074541	NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)	Pathogenic
1075199	NM_032043.3(BRIP1):c.2109del (p.Lys703fs)	Pathogenic
1075294	NM_032043.3(BRIP1):c.1457del (p.Thr486fs)	Pathogenic
1075963	NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)	Pathogenic
1076101	NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)	Pathogenic
1076124	NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs)	Pathogenic
1076359	NC_000017.10:g.(?59760657)(59821962_?)del	Pathogenic
1076496	NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)	Pathogenic
1076574	NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)	Pathogenic
1076680	NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)	Pathogenic
1077092	NM_032043.3(BRIP1):c.1328_1334del (p.Cys443fs)	Pathogenic

SpliceAI

8745 predictions. Top by Δscore:

Variant	Effect	Δscore
17:61684141:C:CC	acceptor_gain	1.0000
17:61685834:A:AC	donor_gain	1.0000
17:61685835:C:CC	donor_gain	1.0000
17:61685835:CTTTT:C	donor_gain	1.0000
17:61685904:AGTT:A	donor_gain	1.0000
17:61685907:T:TA	donor_gain	1.0000
17:61744592:C:CC	acceptor_gain	1.0000
17:61753132:AG:A	donor_gain	1.0000
17:61753132:AGCCT:A	donor_gain	1.0000
17:61754673:T:TA	donor_gain	1.0000
17:61776395:CCTTA:C	donor_loss	1.0000
17:61776396:CTTAC:C	donor_loss	1.0000
17:61776397:TTA:T	donor_loss	1.0000
17:61776398:TA:T	donor_loss	1.0000
17:61776399:A:AT	donor_loss	1.0000
17:61781006:C:CC	acceptor_gain	1.0000
17:61793726:CCAA:C	acceptor_gain	1.0000
17:61793727:CAA:C	acceptor_gain	1.0000
17:61793727:CAAC:C	acceptor_gain	1.0000
17:61793730:C:CC	acceptor_gain	1.0000
17:61799094:TCTTA:T	donor_loss	1.0000
17:61799095:CTTA:C	donor_loss	1.0000
17:61799096:TTA:T	donor_loss	1.0000
17:61799097:TA:T	donor_loss	1.0000
17:61799098:A:AC	donor_gain	1.0000
17:61799098:AC:A	donor_loss	1.0000
17:61799099:C:CA	donor_gain	1.0000
17:61799099:CTTA:C	donor_gain	1.0000
17:61799102:A:AC	donor_gain	1.0000
17:61799103:A:C	donor_gain	1.0000

AlphaMissense

8236 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:61715997:A:G	W816R	1.000
17:61715997:A:T	W816R	1.000
17:61686154:A:G	W863R	0.999
17:61686154:A:T	W863R	0.999
17:61715962:C:A	Q827H	0.999
17:61715962:C:G	Q827H	0.999
17:61715995:C:A	W816C	0.999
17:61715995:C:G	W816C	0.999
17:61716050:C:G	R798P	0.999
17:61716052:T:A	K797N	0.999
17:61716052:T:G	K797N	0.999
17:61743107:C:G	R762P	0.999
17:61799259:T:A	E394V	0.999
17:61859842:G:C	S53R	0.999
17:61859842:G:T	S53R	0.999
17:61859844:T:G	S53R	0.999
17:61859863:A:C	S46R	0.999
17:61859863:A:T	S46R	0.999
17:61859865:T:G	S46R	0.999
17:61686152:C:A	W863C	0.998
17:61686152:C:G	W863C	0.998
17:61693462:C:G	R848P	0.998
17:61715951:C:G	R831T	0.998
17:61715965:G:C	N826K	0.998
17:61715965:G:T	N826K	0.998
17:61715974:C:A	R823S	0.998
17:61715974:C:G	R823S	0.998
17:61715975:C:A	R823M	0.998
17:61715975:C:G	R823T	0.998
17:61716054:T:C	K797E	0.998

dbSNP variants (sampled 300 via entrez): RS1000007980 (17:61850428 C>G), RS1000009833 (17:61846987 G>A,C), RS1000016638 (17:61834653 CACAA>C), RS1000016878 (17:61797115 G>C), RS1000048666 (17:61751433 G>A), RS1000082476 (17:61752774 T>C), RS1000084639 (17:61836217 T>C,G), RS1000098886 (17:61784944 T>TA), RS1000126335 (17:61841392 G>A), RS1000138945 (17:61736387 C>A), RS1000171204 (17:61807312 T>C), RS1000172787 (17:61729380 C>T), RS1000181671 (17:61757642 G>A,C,T), RS1000181839 (17:61840876 T>C), RS1000229381 (17:61781984 T>C)

Disease associations

OMIM: gene MIM:605882 | disease phenotypes: MIM:609054, MIM:114480, MIM:167000, MIM:613659, MIM:603956, MIM:604370, MIM:607893, MIM:612555, MIM:227650, MIM:227646, MIM:189960, MIM:114500

GenCC curated gene-disease

Disease	Classification	Inheritance
Fanconi anemia complementation group J	Definitive	Autosomal recessive
Fanconi anemia	Definitive	Autosomal recessive
hereditary breast carcinoma	Strong	Autosomal dominant
colorectal adenoma	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Fanconi anemia complementation group J	Definitive	AR
hereditary breast carcinoma	Refuted	AD
familial ovarian cancer	Definitive	AD

Mondo (25): Fanconi anemia complementation group J (MONDO:0012187), hereditary breast carcinoma (MONDO:0016419), hereditary neoplastic syndrome (MONDO:0015356), ovarian cancer (MONDO:0008170), breast cancer (MONDO:0007254), hereditary breast ovarian cancer syndrome (MONDO:0003582), exocrine pancreatic carcinoma (MONDO:0005192), familial ovarian cancer (MONDO:0016248), breast carcinoma (MONDO:0004989), gastric cancer (MONDO:0001056), uterine corpus cancer (MONDO:0006003), ovarian neoplasm (MONDO:0021068), cervical cancer (MONDO:0002974), colon carcinoma (MONDO:0002032), breast-ovarian cancer, familial, susceptibility to, 1 (MONDO:0011450)

Orphanet (12): Hereditary breast cancer (Orphanet:227535), Fanconi anemia (Orphanet:84), Inherited cancer-predisposing syndrome (Orphanet:140162), Rare ovarian cancer (Orphanet:213500), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Familial pancreatic carcinoma (Orphanet:1333), Rare carcinoma of pancreas (Orphanet:217074), Rare genetic premature ovarian failure (Orphanet:485382), Diffuse intrinsic pontine glioma (Orphanet:497188), Esophageal atresia (Orphanet:1199), OBSOLETE: Familial ovarian cancer (Orphanet:213517), NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667)

HPO phenotypes

120 total (30 of 120 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000035	Abnormal testis morphology
HP:0000047	Hypospadias
HP:0000072	Hydroureter
HP:0000079	Abnormality of the urinary system
HP:0000083	Renal insufficiency
HP:0000130	Abnormality of the uterus
HP:0000135	Hypogonadism
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000453	Choanal atresia
HP:0000478	Abnormality of the eye
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000492	Abnormal eyelid morphology

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001258_1	Ovarian cancer	6.000000e-13
GCST007001_13	Cerebrospinal AB1-42 levels in normal cognition	2.000000e-08
GCST009325_59	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	9.000000e-10
GCST90002390_534	Mean corpuscular hemoglobin	2.000000e-12
GCST90002392_24	Mean corpuscular volume	1.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004670	beta-amyloid 1-42 measurement
EFO:0004527	mean corpuscular hemoglobin

MeSH disease descriptors (10)

Descriptor	Name	Tree numbers
D001943	Breast Neoplasms	C04.588.180; C17.800.090.500
D000080443	Diffuse Intrinsic Pontine Glioma	C04.557.465.625.600.380.185; C04.557.470.670.380.185; C04.557.580.625.600.380.185; C04.588.614.250.195.411.100.500; C10.228.140.211.500.100.500; C10.551.240.250.400.200.500
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
D012873	Skin Diseases, Genetic	C16.320.850; C17.800.827
C562840	Breast Cancer, Familial (supp.)
C531835	Esophageal atresia with or without tracheoesophageal fistula (supp.)
C563801	Fanconi Anemia, Complementation Group J (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

Clinical evidence (CIViC)

Drug × variant × indication: 1 predictive associations from 1 curated evidence items.

Variant	Therapy	Indication	Effect	Level	CIViC
BRIP1 Mutation	Olaparib	Castration-resistant Prostate Carcinoma	Sensitivity/Response	CIViC A	EID11208

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2070401	Toxicity	3	isoniazid	Drug-induced liver injury;Toxic liver disease

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2070401	BACH1	3	0.75	1	isoniazid
rs2048718	BRIP1		0.00	0

PubChem BioAssay actives

12 with measured affinity, of 12 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-N,9-N-bis(1-methylquinolin-1-ium-6-yl)-1,10-phenanthroline-2,9-dicarboxamide	1802400: Helicase Assays from Article 10.1074/jbc.M113.496463: “Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.”	ic50	0.0001	uM
2-N,9-N-bis(1-methylquinolin-1-ium-3-yl)-1,10-phenanthroline-2,9-dicarboxamide	1802400: Helicase Assays from Article 10.1074/jbc.M113.496463: “Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.”	ic50	0.0004	uM
4,8-dimethyl-3,7,11,15,19,23,27-heptaoxa-31-thia-33,34,35,36,37,38,39,40-octazanonacyclo[28.2.1.12,5.16,9.110,13.114,17.118,21.122,25.126,29]tetraconta-2(40),4,6(39),8,10(38),12,14(37),16,18(36),20,22(35),24,26(34),28,30(33)-pentadecaene	1802400: Helicase Assays from Article 10.1074/jbc.M113.496463: “Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.”	ic50	0.0019	uM
5,10,15,20-tetrakis(1-methylpyridin-1-ium-4-yl)-21,22-dihydroporphyrin	1802400: Helicase Assays from Article 10.1074/jbc.M113.496463: “Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.”	ic50	2.3000	uM

CTD chemical–gene interactions

70 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	4
Benzo(a)pyrene	increases expression, decreases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
chromium hexavalent ion	decreases expression, increases abundance	2
Air Pollutants	decreases expression, increases abundance	2
Arsenic	affects cotreatment, increases abundance, increases expression, increases mutagenesis	2
Cisplatin	decreases response to substance, affects cotreatment, decreases expression	2
Doxorubicin	decreases expression	2
Estradiol	increases expression	2
Smoke	increases abundance, decreases expression	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Valproic Acid	affects expression, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
pradimicin-IRD	decreases expression, affects expression, affects response to substance	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
lasiocarpine	increases metabolic processing, decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
bisphenol A	decreases expression	1
riddelliine	decreases expression, increases metabolic processing	1
beta-lapachone	decreases expression	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
quinoline yellow	increases expression	1

Cellosaurus cell lines

6 cell lines: 5 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B8C7	Abcam HCT 116 BRIP1 KO	Cancer cell line	Male
CVCL_B8T6	Abcam MCF-7 BRIP1 KO	Cancer cell line	Female
CVCL_B9ED	Abcam A-549 BRIP1 KO	Cancer cell line	Male
CVCL_D9AA	Ubigene HEK293 BRIP1 KO	Transformed cell line	Female
CVCL_SF71	HAP1 BRIP1 (-) 1	Cancer cell line	Male
CVCL_XM12	HAP1 BRIP1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

524 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01767870	PHASE4	UNKNOWN	Efficacy Combined Fecal Immunochemical Test-Sigmoidoscopy for the Detection of Advanced Colorectal Neoplasia
NCT07167342	PHASE4	RECRUITING	The Effect of Oral Clostridium Butyricum on the Recurrence After Colonoscopic Resection of Colorectal Adenoma
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00727961	PHASE4	COMPLETED	A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED)
NCT00740116	PHASE4	COMPLETED	Tranexamic Acid in Surgery of Advanced Ovarian Cancer
NCT00817479	PHASE4	COMPLETED	Tumor Gene Expression in Women With Ovarian Cancer
NCT01432015	PHASE4	COMPLETED	Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting
NCT01706120	PHASE4	UNKNOWN	Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab
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