| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 525 |
Name | ATP6V1B1 |
Synonymous | ATP6B1|RTA1B|VATB|VMA2|VPP3;ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1;ATP6V1B1;ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 |
Definition | H(+)-transporting two-sector ATPase, 58kD subunit|H+-ATPase beta 1 subunit|V-ATPase B1 subunit|V-ATPase subunit B 1|V-type proton ATPase subunit B, kidney isoform|endomembrane proton pump 58 kDa subunit|vacuolar proton pump 3|vacuolar proton pump subunit |
Position | 2p13.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ATP6V1B1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ATP6V1B1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1495T>C; p.S499P; |
skin; upper_leg | malignant_melanoma |
c.371G>A; p.R124Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1477G>A; p.V493M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.827C>T; p.A276V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.506C>A; p.S169Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.891T>A; p.Y297*; |
liver | carcinoma |
c.166C>T; p.R56W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1535C>T; p.A512V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.539G>A; p.G180D; |
liver | carcinoma; hepatocellular_carcinoma |
c.1500C>A; p.R500R; |
liver | carcinoma |
c.9G>T; p.M3I; |
large_intestine; colon | carcinoma |
c.595C>T; p.Q199*; |
lung | carcinoma; adenocarcinoma |
c.1023C>T; p.S341S; |
lung | carcinoma; adenocarcinoma |
c.1380C>T; p.G460G; |
lung | carcinoma; adenocarcinoma |
c.254G>C; p.G85A; |
ovary | carcinoma |
c.737G>T; p.G246V; |
liver | carcinoma |
c.319G>A; p.E107K; |
prostate | carcinoma |
c.1062T>A; p.D354E; |
lung | carcinoma; squamous_cell_carcinoma |
c.301G>T; p.A101S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1483G>T; p.D495Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.785+1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.290C>A; p.S97*; |
lung | carcinoma; squamous_cell_carcinoma |
c.988G>A; p.E330K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1149delC; p.I386fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1148_1149insC; p.I386fs*56; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1149delC; p.I386fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.412G>A; p.V138M; |
breast | carcinoma |
c.991C>T; p.R331W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1149delC; p.I386fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.113G>A; p.R38H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1169C>A; p.P390H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1282G>A; p.A428T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.852G>T; p.E284D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1149delC; p.I386fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1393C>T; p.R465C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.267T>G; p.I89M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1107A>G; p.G369G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.537C>T; p.R179R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.230G>T; p.S77I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.850G>A; p.E284K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.509C>A; p.P170H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.347C>T; p.P116L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.122A>G; p.Y41C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.991C>T; p.R331W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1077C>A; p.I359I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1144-1G>C; p.?; |
breast | carcinoma |
c.347C>T; p.P116L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.174+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1362G>T; p.K454N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1371C>A; p.I457I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.913T>C; p.S305P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.498G>T; p.T166T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1149delC; p.I386fs*10; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1149delC; p.I386fs*10; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.446-1G>A; p.?; |
urinary_tract; bladder | carcinoma |
c.319G>A; p.E107K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1169C>A; p.P390H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.605G>A; p.R202H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.846G>A; p.Q282Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5C>T; p.A2V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.753C>T; p.V251V; |
urinary_tract; bladder | carcinoma |
c.1003G>A; p.V335M; |
urinary_tract; bladder | carcinoma |
c.1149delC; p.I386fs*10; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1319C>A; p.S440Y; |
urinary_tract; bladder | carcinoma |
c.1295T>C; p.V432A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.684G>A; p.M228I; |
skin; neck | malignant_melanoma |