| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 535 |
Name | ATP6V0A1 |
Synonymous | ATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1;ATPase, H+ transporting, lysosomal V0 subunit a1;ATP6V0A1;ATPase, H+ transporting, lysosomal V0 subunit a1 |
Definition | ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)|ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)|H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1|V-A |
Position | 17q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ATP6V0A1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ATP6V0A1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1418A>G; p.N473S; |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.1065G>A; p.M355I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2282A>T; p.H761L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma |
c.2273T>C; p.M758T; |
kidney | carcinoma; renal_cell_carcinoma |
c.1174+3dela; p.?; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1845G>A; p.M615I; |
oesophagus | carcinoma; adenocarcinoma |
c.2276T>G; p.V759G; |
oesophagus | carcinoma; adenocarcinoma |
c.1469+9C>T; p.?; |
liver | carcinoma |
c.2124C>T; p.D708D; |
liver | carcinoma |
c.2350A>C; p.T784P; |
lung | carcinoma; adenocarcinoma |
c.2232C>T; p.L744L; |
lung | carcinoma; adenocarcinoma |
c.1267A>G; p.M423V; |
lung | carcinoma; adenocarcinoma |
c.1589C>T; p.T530M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.2227G>C; p.A743P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.287A>C; p.D96A; |
pancreas | carcinoma; ductal_carcinoma |
c.824C>T; p.T275M; |
prostate | carcinoma |
c.2349C>T; p.A783A; |
lung | carcinoma; small_cell_carcinoma |
c.1023+1G>T; p.?; |
prostate | adenoma |
c.1105A>T; p.K369*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2398C>T; p.L800F; |
lung | carcinoma; adenocarcinoma |
c.572G>T; p.C191F; |
lung | carcinoma; adenocarcinoma |
c.2312G>A; p.G771E; |
lung | carcinoma; adenocarcinoma |
c.1856C>T; p.S619F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.572G>T; p.C191F; |
lung | carcinoma; squamous_cell_carcinoma |
c.2483A>G; p.E828G; |
lung | carcinoma; squamous_cell_carcinoma |
c.728C>T; p.S243L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1978C>T; p.R660C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2455G>T; p.G819C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2021G>T; p.G674V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1194G>A; p.T398T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.836G>A; p.R279H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.37G>A; p.A13T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.359G>T; p.R120I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.145C>T; p.R49W; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.915C>T; p.H305H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.236T>A; p.I79N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.379G>A; p.E127K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.956T>C; p.L319S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.193C>T; p.L65F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.410A>C; p.Q137P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.117C>T; p.D39D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1551C>T; p.G517G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1175C>T; p.A392V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.379G>A; p.E127K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2326_2328delTTC; p.F779delF; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1477A>T; p.T493S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.536G>A; p.R179H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.572G>T; p.C191F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.380_386delAATTAAA; p.E127fs*38; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1997A>C; p.K666T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.406C>A; p.Q136K; |
urinary_tract; bladder | carcinoma |
c.1867T>C; p.S623P; |
urinary_tract; bladder | carcinoma |
c.1116T>G; p.Y372*; |
urinary_tract; bladder | carcinoma |
c.124C>G; p.P42A; |
urinary_tract; bladder | carcinoma |
c.1479G>A; p.T493T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.996C>T; p.S332S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.592C>T; p.R198*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2128G>A; p.V710M; |
urinary_tract; bladder | carcinoma |
c.1989G>A; p.L663L; |
breast | carcinoma |
c.318T>C; p.N106N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1537C>T; p.P513S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.742C>A; p.P248T; |
urinary_tract; bladder | carcinoma |
c.1691A>G; p.K564R; |
skin | malignant_melanoma |
c.541C>T; p.P181S; |
skin | malignant_melanoma |
c.196C>T; p.R66*; |
skin; upper_leg | malignant_melanoma |
c.1167delA; p.N390fs*16; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1400G>A; p.C467Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |