Gene table of BRIP1 : BRCA1 interacting protein C-terminal helicase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BRIP1	OMIM link	Number of associated genes	genes
PS227650	FANCONI ANEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	18	BRIP1, FANCL, FANCC, FANCG, FANCB, ERCC4, FANCA, SLX4, FANCI, BRCA2, UBE2T, PALB2, BRCA1, FANCD2, FANCF, FANCM, RAD51C, FANCE
114480	BREAST CANCER	OMIM, HUMSAVAR	link to OMIM	27	RB1CC1, ESR1, NBN, PALB2, SLC22A18, BRIP1, BCPR, CASP8, FAM175A, TSG101, CHEK2, BARD1, TP53, AKT1, BRCA1, PIK3CA, PHB, PPM1D, NQO2, ATM, RAD51, BRCA2, CDH1, XRCC3, HMMR, KRAS, RAD54L

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Annotation of the gene BRIP1

Associated genes in ENSEMBL

ENSG00000136492

Associated proteins - SwissProt Accession ID

Q9BX63

Associated PDB IDs

Cytogenetic Band

17q23.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

BARD1

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Fanconi anemia pathway	hsa03460	7.01

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cytosolic iron-sulfur cluster assembly	R-HSA-2564830	9.28
Homologous DNA Pairing and Strand Exchange	R-HSA-76010	10.18
Metabolism	R-HSA-1430728	2.34
Homologous recombination repair of replication-independent double-strand breaks	R-HSA-73951	8.98
Homologous Recombination Repair	R-HSA-73888	8.98
DNA Repair	R-HSA-73894	5.8
Double-Strand Break Repair	R-HSA-73890	8.46

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ATPase activity	GO:0016887	3.65
ATP-dependent helicase activity	GO:0008026	5.12
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
DNA helicase activity	GO:0003678	5.73
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
metal cluster binding	GO:0051540	5.55
ATPase activity, coupled	GO:0042623	3.97
nucleotide binding	GO:0000166	1.96
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
ATP-dependent DNA helicase activity	GO:0004003	6.13
nucleoside-triphosphatase activity	GO:0017111	3.09
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
DNA-dependent ATPase activity	GO:0008094	5.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
4 iron, 4 sulfur cluster binding	GO:0051539	6.0
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
iron-sulfur cluster binding	GO:0051536	5.55
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
purine NTP-dependent helicase activity	GO:0070035	5.12
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19