Cancer metastasis database

Annotation category 5

Gene information

Gene ID 1513
Symbol

CTSK

Synonymous

CTS02|CTSO|CTSO1|CTSO2|PKND|PYCD

Full name

cathepsin K

Gene description

cathepsin O|cathepsin O1|cathepsin O2|cathepsin X

Cytoband

1q21

Gene type

protein-coding

Synonymous

MIM:601105; HGNC:HGNC:2536; Ensembl:ENSG00000143387; HPRD:03064; Vega:OTTHUMG00000035008

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.935G>A; p.R312Q; 1:150796854-150796854

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.972C>T; p.A324A; 1:150796817-150796817

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.369G>T; p.K123N; 1:150805891-150805891

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.122_123insT; p.D42fs*2; 1:150806222-150806223

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.470G>A; p.G157D; 1:150804169-150804169

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.934C>T; p.R312*; 1:150796855-150796855

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.934C>T; p.R312*; 1:150796855-150796855

 skinmalignant_melanomaSubstitution - Nonsense

c.676G>C; p.E226Q; 1:150799652-150799652

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.295C>G; p.H99D; 1:150805965-150805965

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.348A>G; p.P116P; 1:150805912-150805912

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.213T>A; p.Y71*; 1:150806132-150806132

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.454C>G; p.L152V; 1:150804185-150804185

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.380T>C; p.V127A; 1:150805880-150805880

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.158delA; p.N53fs*2; 1:150806187-150806187

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.158delA; p.N53fs*2; 1:150806187-150806187

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.456C>T; p.L152L; 1:150804183-150804183

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.264G>C; p.Q88H; 1:150805996-150805996

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.264G>C; p.Q88H; 1:150805996-150805996

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.949G>A; p.A317T; 1:150796840-150796840

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.400-2A>C; p.?; 1:150804241-150804241

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.102G>A; p.R34R; 1:150806704-150806704

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.628T>C; p.C210R; 1:150799700-150799700

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.622G>T; p.E208*; 1:150799706-150799706

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.255G>C; p.E85D; 1:150806005-150806005

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.358G>T; p.D120Y; 1:150805902-150805902

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.322A>G; p.I108V; 1:150805938-150805938

 skin; armmalignant_melanomaSubstitution - Missense

c.990A>G; p.*330W; 1:150796799-150796799

 stomachcarcinoma; adenocarcinomaNonstop extension

c.764C>G; p.S255C; 1:150799564-150799564

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.895G>T; p.G299*; 1:150796894-150796894

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.684C>T; p.P228P; 1:150799644-150799644

 livercarcinomaSubstitution - coding silent

c.813C>T; p.S271S; 1:150799245-150799245

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.696G>T; p.E232D; 1:150799632-150799632

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.832G>A; p.V278I; 1:150799226-150799226

 skinmalignant_melanomaSubstitution - Missense

c.812G>T; p.S271I; 1:150799246-150799246

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.533G>T; p.G178V; 1:150804106-150804106

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.625_626delAG; p.S209fs*11; 1:150799702-150799703

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.96C>A; p.T32T; 1:150806710-150806710

 breastcarcinomaSubstitution - coding silent

c.248G>A; p.S83N; 1:150806012-150806012

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.705G>A; p.L235L; 1:150799623-150799623

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.722G>A; p.R241Q; 1:150799606-150799606

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.302G>A; p.R101H; 1:150805958-150805958

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.555C>T; p.A185A; 1:150804084-150804084

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - coding silent

c.721C>T; p.R241*; 1:150799607-150799607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.48G>T; p.L16L; 1:150806758-150806758

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent