| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 83990 |
Name | BRIP1 |
Synonymous | BACH1|FANCJ|OF;BRCA1 interacting protein C-terminal helicase 1;BRIP1;BRCA1 interacting protein C-terminal helicase 1 |
Definition | ATP-dependent RNA helicase BRIP1|BRCA1-associated C-terminal helicase 1|BRCA1-binding helicase-like protein BACH1|BRCA1/BRCA2-associated helicase 1|Fanconi anemia group J protein |
Position | 17q22.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BRIP1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
BRIP1_E20_UTR_3; chr17; 59760576 |
SUB; UTR_3; C; C/T; SOMATIC | HYPO; PUTATIVE-HQ; EXOME |
BRIP1_E20_UTR_3; chr17; 59760576 |
SUB; UTR_3; C; T/T; SOMATIC | HYPO; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.868G>A; p.G290S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2233G>A; p.A745T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2233G>A; p.A745T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1073T>C; p.L358P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1436A>C; p.K479T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2791C>T; p.P931S; |
pancreas | carcinoma |
c.430G>A; p.A144T; |
urinary_tract; bladder | carcinoma |
c.1798T>C; p.F600L; |
urinary_tract; bladder | carcinoma |
c.1316G>A; p.R439Q; |
urinary_tract; bladder | carcinoma |
c.1963C>T; p.P655S; |
liver | carcinoma; hepatocellular_carcinoma |
c.3190T>G; p.F1064V; |
oesophagus | carcinoma; adenocarcinoma |
c.2330G>A; p.R777H; |
oesophagus | carcinoma; adenocarcinoma |
c.110A>T; p.N37I; |
oesophagus | carcinoma; adenocarcinoma |
c.1090A>G; p.I364V; |
oesophagus | carcinoma; adenocarcinoma |
c.2186G>T; p.G729V; |
liver | carcinoma; hepatocellular_carcinoma |
c.479G>T; p.R160I; |
liver | carcinoma |
c.1515A>G; p.S505S; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1248G>C; p.R416R; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.2217G>C; p.L739L; |
liver | carcinoma |
c.2791C>T; p.P931S; |
pancreas | carcinoma; ductal_carcinoma |
c.587A>G; p.N196S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1871C>T; p.S624L; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.1762G>T; p.V588L; |
lung | carcinoma; adenocarcinoma |
c.3390_3393delCTAT; p.Y1131fs*18; |
lung | carcinoma; adenocarcinoma |
c.2153A>T; p.E718V; |
lung | carcinoma; adenocarcinoma |
c.2625A>T; p.E875D; |
lung | carcinoma; adenocarcinoma |
c.2326G>T; p.A776S; |
lung | carcinoma; adenocarcinoma |
c.99C>T; p.L33L; |
lung | carcinoma; adenocarcinoma |
c.3577A>G; p.T1193A; |
lung | carcinoma; adenocarcinoma |
c.560T>C; p.V187A; |
skin; extremity | malignant_melanoma |
c.857C>G; p.P286R; |
liver | carcinoma; hepatocellular_carcinoma |
c.2951T>A; p.V984E; |
breast | carcinoma |
c.2206G>C; p.D736H; |
NS | NS |
c.3550G>T; p.E1184*; |
endometrium | carcinoma; serous_carcinoma |
c.1208G>T; p.R403L; |
autonomic_ganglia | neuroblastoma |
c.3710C>T; p.S1237F; |
lung | carcinoma; adenocarcinoma |
c.113G>T; p.S38I; |
lung | carcinoma; adenocarcinoma |
c.808G>A; p.G270R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2180C>A; p.P727Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1949C>T; p.T650I; 17:57208692-57208692 |
ovary | carcinoma; serous_carcinoma |
c.1183G>A; p.A395T; |
ovary | carcinoma; serous_carcinoma |
c.3601A>G; p.I1201V; |
lung | carcinoma; adenocarcinoma |
c.2164A>G; p.T722A; |
lung | carcinoma; squamous_cell_carcinoma |
c.1858A>G; p.M620V; |
lung | carcinoma; adenocarcinoma |
c.60A>G; p.K20K; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.2082C>G; p.F694L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3117G>A; p.E1039E; |
lung | carcinoma; squamous_cell_carcinoma |
c.3526A>C; p.I1176L; |
lung | carcinoma; adenocarcinoma |
c.799G>A; p.A267T; |
lung | carcinoma; squamous_cell_carcinoma |
c.990G>A; p.G330G; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1210G>A; p.E404K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2383G>T; p.E795*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2754C>T; p.T918T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2433A>C; p.L811L; |
breast | carcinoma |
c.1261G>C; p.E421Q; |
breast | carcinoma |
c.3350C>G; p.S1117*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1027C>A; p.L343M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2054A>C; p.Q685P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2098-1G>C; p.?; |
breast | carcinoma |
c.2738C>T; p.S913F; |
breast | carcinoma |
c.1510_1511insA; p.I504fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.397A>C; p.T133P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.394A>C; p.T132P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2627G>A; p.S876N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3440_3441insA; p.N1147fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3386C>A; p.S1129Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2393G>A; p.R798Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058A>G; p.Y353C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1_2delAT; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1871C>T; p.S624L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2905+10G>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.225C>T; p.G75G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2849A>C; p.K950T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.752G>A; p.R251H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1357G>A; p.A453T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3359A>C; p.D1120A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3342G>A; p.Q1114Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.323T>C; p.F108S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.798G>A; p.T266T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3258A>C; p.K1086N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1410A>G; p.G470G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3070G>A; p.G1024R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.262_264delTGT; p.C88delC; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2233G>A; p.A745T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.594A>G; p.P198P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3623A>G; p.D1208G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2801T>G; p.F934C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1069G>T; p.E357*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.959G>C; p.S320T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3736C>A; p.P1246T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3289G>T; p.E1097*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.713C>T; p.T238I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1652C>T; p.A551V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2034A>G; p.A678A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2234C>T; p.A745V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3105T>C; p.R1035R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1521T>G; p.I507M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1801T>C; p.S601P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.250T>A; p.L84M; |
urinary_tract; bladder | carcinoma |
c.2232C>T; p.D744D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3020C>A; p.S1007Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1487C>T; p.A496V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2011G>C; p.E671Q; |
urinary_tract; bladder | carcinoma |
c.2829C>T; p.V943V; |
urinary_tract; bladder | carcinoma |
c.2020G>T; p.D674Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1950C>T; p.T650T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2285G>A; p.R762H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3070G>A; p.G1024R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1860G>T; p.M620I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2757A>G; p.S919S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2335G>A; p.V779I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3614A>G; p.K1205R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.990G>A; p.G330G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2593C>T; p.R865W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1859T>G; p.M620R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2011G>C; p.E671Q; |
cervix | carcinoma; squamous_cell_carcinoma |
c.679C>T; p.Q227*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1619_1627delAAAATAGCA; p.Q540_S542delQ |
breast | carcinoma |
c.2637A>G; p.E879E; |
breast | carcinoma |
c.2238C>T; p.I746I; |
breast | carcinoma |
c.2149C>G; p.L717V; |
breast | carcinoma |
c.1357G>A; p.A453T; |
breast | carcinoma |
c.3178G>A; p.V1060I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3266C>G; p.S1089C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.475A>G; p.K159E; |
urinary_tract; bladder | carcinoma |
c.2728G>C; p.E910Q; |
urinary_tract; bladder | carcinoma |
c.2058T>G; p.T686T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5C>T; p.S2F; |
central_nervous_system; brain | glioma |
c.1001C>T; p.A334V; |
skin | malignant_melanoma |
c.3737C>T; p.P1246L; |
skin | malignant_melanoma |
c.368C>T; p.S123L; |
skin | malignant_melanoma |
c.2963C>T; p.S988F; |
skin | malignant_melanoma |
c.1192A>T; p.I398F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |