| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1512 |
Name | CTSH |
Synonymous | cathepsin H;CTSH;cathepsin H |
Definition | N-benzoylarginine-beta-naphthylamide hydrolase|aleurain|cathepsin B3|cathepsin BA|pro-cathepsin H |
Position | 15q25.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.358G>A; p.V120M; 15:78935025-78935025 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.895G>A; p.V299M; 15:78923030-78923030 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.398A>T; p.K133I; 15:78934985-78934985 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.529A>G; p.N177D; 15:78931470-78931470 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.517G>A; p.A173T; 15:78931482-78931482 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.179G>A; p.S60N; 15:78937368-78937368 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.559A>G; p.S187G; 15:78929483-78929483 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.93G>A; p.E31E; 15:78939170-78939170 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.593G>A; p.G198E; 15:78929449-78929449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.591_592insA; p.G198fs*5; 15:78929450-78929451 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.699C>T; p.I233I; 15:78927713-78927713 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.450G>A; p.L150L; 15:78932414-78932414 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.289T>C; p.S97P; 15:78935691-78935691 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.289T>C; p.S97P; 15:78935691-78935691 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.252C>T; p.D84D; 15:78935728-78935728 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.749G>A; p.S250N; 15:78925391-78925391 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.706G>A; p.E236K; 15:78925434-78925434 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.414C>T; p.C138C; 15:78932450-78932450 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.930C>T; p.N310N; 15:78922995-78922995 |
stomach | adenocarcinoma | Substitution - coding silent |
c.894C>T; p.I298I; 15:78923031-78923031 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.641G>T; p.C214F; 15:78927771-78927771 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.199G>A; p.A67T; 15:78937348-78937348 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.469G>A; p.A157T; 15:78932395-78932395 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.826C>A; p.P276T; 15:78923099-78923099 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.147G>A; p.E49E; 15:78937400-78937400 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.488C>T; p.S163F; 15:78932376-78932376 |
skin | malignant_melanoma | Substitution - Missense |
c.337A>G; p.T113A; 15:78935046-78935046 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.135C>A; p.T45T; 15:78937412-78937412 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.301-2A>G; p.?; 15:78935084-78935084 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.801C>T; p.Y267Y; 15:78925339-78925339 |
oesophagus | carcinoma | Substitution - coding silent |
c.982G>A; p.A328T; 15:78922156-78922156 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.877G>T; p.G293W; 15:78923048-78923048 |
ovary | other; neoplasm | Substitution - Missense |
c.952G>A; p.G318R; 15:78922186-78922186 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.585delC; p.Y195fs*1; 15:78929457-78929457 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.101A>T; p.H34L; 15:78939162-78939162 |
skin | malignant_melanoma | Substitution - Missense |
c.360G>T; p.V120V; 15:78935023-78935023 |
skin | malignant_melanoma | Substitution - coding silent |
c.61G>A; p.G21S; 15:78944921-78944921 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.86C>T; p.S29F; 15:78944896-78944896 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.470C>T; p.A157V; 15:78932394-78932394 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.432C>A; p.F144L; 15:78932432-78932432 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.587_588AC>CA; p.N196T; 15:78929454-78929455 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.98T>C; p.F33S; 15:78939165-78939165 |
skin | malignant_melanoma | Substitution - Missense |
c.77G>C; p.C26S; 15:78944905-78944905 |
thyroid | other; neoplasm | Substitution - Missense |
c.367C>T; p.R123W; 15:78935016-78935016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>T; p.G126*; 15:78935007-78935007 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Nonsense |
c.459G>A; p.A153A; 15:78932405-78932405 |
thyroid | other; neoplasm | Substitution - coding silent |
c.459G>A; p.A153A; 15:78932405-78932405 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.459G>A; p.A153A; 15:78932405-78932405 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.667G>A; p.G223S; 15:78927745-78927745 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>A; p.G126R; 15:78935007-78935007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.352_353CC>TT; p.P118F; 15:78935030-78935031 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.843T>C; p.H281H; 15:78923082-78923082 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.368G>A; p.R123Q; 15:78935015-78935015 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.875_876insA; p.N292fs*>45; 15:78923049-78923050 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.723G>T; p.E241D; 15:78925417-78925417 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.866G>A; p.G289E; 15:78923059-78923059 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.622C>A; p.Q208K; 15:78929420-78929420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.705C>G; p.D235E; 15:78925435-78925435 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.113G>T; p.W38L; 15:78939150-78939150 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>C; p.F176L; 15:78931473-78931473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502C>T; p.Q168*; 15:78931497-78931497 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.881T>C; p.I294T; 15:78923044-78923044 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.699+2T>A; p.?; 15:78927711-78927711 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |