| Gene ID | 1520 |
| Symbol | CTSS |
| Synonymous | - |
| Full name | cathepsin S |
| Gene description | - |
| Cytoband | 1q21 |
| Gene type | protein-coding |
| Synonymous | MIM:116845; HGNC:HGNC:2545; Ensembl:ENSG00000163131; HPRD:00292; Vega:OTTHUMG00000035010 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.615C>T; p.P205P; 1:150751793-150751793 |
skin | malignant_melanoma | Substitution - coding silent |
c.761C>T; p.A254V; 1:150750038-150750038 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.46G>A; p.A16T; 1:150764718-150764718 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.552C>T; p.F184F; 1:150751856-150751856 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.770C>T; p.P257L; 1:150750029-150750029 |
skin | malignant_melanoma | Substitution - Missense |
c.683C>T; p.T228I; 1:150750116-150750116 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.273G>C; p.L91F; 1:150755127-150755127 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.490G>A; p.A164T; 1:150751918-150751918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.631C>G; p.Q211E; 1:150750168-150750168 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.445G>A; p.E149K; 1:150751963-150751963 |
skin | malignant_melanoma | Substitution - Missense |
c.282C>T; p.S94S; 1:150755118-150755118 |
skin | malignant_melanoma | Substitution - coding silent |
c.369G>C; p.E123D; 1:150755031-150755031 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.561G>A; p.T187T; 1:150751847-150751847 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.971G>A; p.S324N; 1:150733071-150733071 |
liver | carcinoma | Substitution - Missense |
c.971G>A; p.S324N; 1:150733071-150733071 |
liver | carcinoma | Substitution - Missense |
c.337C>T; p.R113W; 1:150755063-150755063 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.470G>A; p.G157E; 1:150751938-150751938 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.337C>T; p.R113W; 1:150755063-150755063 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.337C>T; p.R113W; 1:150755063-150755063 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.337C>T; p.R113W; 1:150755063-150755063 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.219C>T; p.Y73Y; 1:150757888-150757888 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.571T>C; p.Y191H; 1:150751837-150751837 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.678G>T; p.K226N; 1:150750121-150750121 |
breast | carcinoma | Substitution - Missense |
c.988G>T; p.E330*; 1:150733054-150733054 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.579T>C; p.I193I; 1:150751829-150751829 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.780C>T; p.F260F; 1:150750019-150750019 |
skin | malignant_melanoma | Substitution - coding silent |
c.292C>T; p.P98S; 1:150755108-150755108 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.308G>A; p.R103K; 1:150755092-150755092 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.865A>T; p.N289Y; 1:150747808-150747808 |
central_nervous_system; spinal_cord | glioma; ependymoma | Substitution - Missense |
c.121G>A; p.E41K; 1:150764643-150764643 |
skin | malignant_melanoma | Substitution - Missense |
c.765T>C; p.R255R; 1:150750034-150750034 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.143G>A; p.R48Q; 1:150757964-150757964 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.G176E; 1:150751881-150751881 |
skin | malignant_melanoma | Substitution - Missense |
c.835G>A; p.G279S; 1:150747838-150747838 |
skin | malignant_melanoma | Substitution - Missense |
c.269C>A; p.S90Y; 1:150755131-150755131 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.416G>T; p.C139F; 1:150751992-150751992 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.706G>C; p.D236H; 1:150750093-150750093 |
breast | carcinoma | Substitution - Missense |
c.595G>A; p.D199N; 1:150751813-150751813 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.456G>A; p.L152L; 1:150751952-150751952 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.325T>G; p.S109A; 1:150755075-150755075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742G>A; p.V248M; 1:150750057-150750057 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.142C>T; p.R48*; 1:150757965-150757965 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.921A>T; p.E307D; 1:150733121-150733121 |
ovary | other; neoplasm | Substitution - Missense |
c.394T>G; p.Y132D; 1:150755006-150755006 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.394T>G; p.Y132D; 1:150755006-150755006 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.601G>C; p.D201H; 1:150751807-150751807 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.65C>T; p.P22L; 1:150764699-150764699 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.491C>T; p.A164V; 1:150751917-150751917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.116A>G; p.Y39C; 1:150764648-150764648 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.760G>A; p.A254T; 1:150750039-150750039 |
skin | malignant_melanoma | Substitution - Missense |
c.441C>T; p.A147A; 1:150751967-150751967 |
skin | malignant_melanoma | Substitution - coding silent |
c.269C>T; p.S90F; 1:150755131-150755131 |
skin | malignant_melanoma | Substitution - Missense |
c.383C>T; p.T128I; 1:150755017-150755017 |
skin | malignant_melanoma | Substitution - Missense |
c.658C>T; p.R220C; 1:150750141-150750141 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.740C>T; p.P247L; 1:150750059-150750059 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.868G>T; p.G290W; 1:150747805-150747805 |
skin | malignant_melanoma | Substitution - Missense |
c.562G>A; p.A188T; 1:150751846-150751846 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.740C>T; p.P247L; 1:150750059-150750059 |
liver | carcinoma | Substitution - Missense |
c.7C>T; p.R3W; 1:150764757-150764757 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.553A>G; p.M185V; 1:150751855-150751855 |
ovary | other; neoplasm | Substitution - Missense |
c.553A>G; p.M185V; 1:150751855-150751855 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.766C>T; p.H256Y; 1:150750033-150750033 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.862C>G; p.L288V; 1:150747811-150747811 |
central_nervous_system; spinal_cord | glioma; ependymoma | Substitution - Missense |
c.931C>T; p.R311W; 1:150733111-150733111 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.25T>G; p.L9V; 1:150764739-150764739 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.242G>A; p.G81E; 1:150757865-150757865 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.866A>G; p.N289S; 1:150747807-150747807 |
central_nervous_system; spinal_cord | glioma; ependymoma | Substitution - Missense |