| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 528 |
Name | ATP6V1C1 |
Synonymous | ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1;ATP6V1C1;ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 |
Definition | H(+)-transporting two-sector ATPase, subunit C|H+ -ATPase C subunit|H+-transporting ATPase chain C, vacuolar|V-ATPase C subunit|V-ATPase subunit C 1|V-type proton ATPase subunit C 1|subunit C of vacuolar proton-ATPase V1 domain|vacuolar ATP synthase subun |
Position | 8q22.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.141G>T; p.T47T; 8:103042348-103042348 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.388A>C; p.T130P; 8:103052737-103052737 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.967C>T; p.P323S; 8:103066361-103066361 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.473+1G>T; p.?; 8:103052823-103052823 |
lung | carcinoma; adenocarcinoma | Unknown |
c.745C>T; p.R249C; 8:103063145-103063145 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.357A>T; p.K119N; 8:103051120-103051120 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087C>G; p.Q363E; 8:103068685-103068685 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1087C>G; p.Q363E; 8:103068685-103068685 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.382-1G>T; p.?; 8:103052730-103052730 |
lung | carcinoma; adenocarcinoma | Unknown |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.936G>T; p.L312F; 8:103066330-103066330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.501A>T; p.A167A; 8:103053911-103053911 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.501A>T; p.A167A; 8:103053911-103053911 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.463C>T; p.R155*; 8:103052812-103052812 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.463C>T; p.R155*; 8:103052812-103052812 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.948C>T; p.F316F; 8:103066342-103066342 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.175G>C; p.A59P; 8:103042382-103042382 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.734A>C; p.K245T; 8:103063047-103063047 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.467A>G; p.K156R; 8:103052816-103052816 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.547G>A; p.V183I; 8:103053957-103053957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.971A>G; p.N324S; 8:103066365-103066365 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.408G>C; p.L136L; 8:103052757-103052757 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1104C>G; p.P368P; 8:103068702-103068702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.650C>T; p.S217L; 8:103062963-103062963 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.31G>T; p.G11W; 8:103040867-103040867 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.391C>G; p.Q131E; 8:103052740-103052740 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.114C>T; p.F38F; 8:103040950-103040950 |
skin | malignant_melanoma | Substitution - coding silent |
c.559G>A; p.V187I; 8:103053969-103053969 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.42C>A; p.T14T; 8:103040878-103040878 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.200+2T>C; p.?; 8:103042409-103042409 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.506T>G; p.I169S; 8:103053916-103053916 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.506T>G; p.I169S; 8:103053916-103053916 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.506T>G; p.I169S; 8:103053916-103053916 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.506T>G; p.I169S; 8:103053916-103053916 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1055C>T; p.A352V; 8:103068653-103068653 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.453G>T; p.Q151H; 8:103052802-103052802 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>A; p.E180K; 8:103053948-103053948 |
thyroid | carcinoma | Substitution - Missense |
c.84G>A; p.K28K; 8:103040920-103040920 |
breast | carcinoma | Substitution - coding silent |
c.815A>C; p.K272T; 8:103063215-103063215 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.639C>T; p.S213S; 8:103055934-103055934 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.544C>T; p.L182F; 8:103053954-103053954 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.783T>C; p.D261D; 8:103063183-103063183 |
liver | carcinoma | Substitution - coding silent |
c.616G>A; p.E206K; 8:103055911-103055911 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.586G>A; p.D196N; 8:103055881-103055881 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310A>G; p.R104G; 8:103051073-103051073 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.7G>A; p.E3K; 8:103040843-103040843 |
breast | carcinoma | Substitution - Missense |
c.1016A>G; p.Y339C; 8:103066410-103066410 |
breast | carcinoma | Substitution - Missense |
c.725G>T; p.R242I; 8:103063038-103063038 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.373A>T; p.I125F; 8:103051136-103051136 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.521A>T; p.D174V; 8:103053931-103053931 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.336T>C; p.Y112Y; 8:103051099-103051099 |
kidney | other; neoplasm | Substitution - coding silent |
c.902G>A; p.R301Q; 8:103064787-103064787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.287-6T>G; p.?; 8:103051044-103051044 |
kidney | other; neoplasm | Unknown |
c.902G>A; p.R301Q; 8:103064787-103064787 |
pancreas | carcinoma | Substitution - Missense |
c.653A>G; p.E218G; 8:103062966-103062966 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.591G>T; p.W197C; 8:103055886-103055886 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.140C>G; p.T47R; 8:103042347-103042347 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.473+1G>A; p.?; 8:103052823-103052823 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1100A>G; p.Y367C; 8:103068698-103068698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.928T>C; p.Y310H; 8:103066322-103066322 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.7G>T; p.E3*; 8:103040843-103040843 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Nonsense |
c.478A>G; p.S160G; 8:103053888-103053888 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.717C>G; p.H239Q; 8:103063030-103063030 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.790G>T; p.E264*; 8:103063190-103063190 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.150C>T; p.V50V; 8:103042357-103042357 |
skin | malignant_melanoma | Substitution - coding silent |
c.612A>T; p.L204L; 8:103055907-103055907 |
ovary | other; neoplasm | Substitution - coding silent |
c.872T>G; p.F291C; 8:103064757-103064757 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.363T>C; p.I121I; 8:103051126-103051126 |
breast | carcinoma | Substitution - coding silent |