Cancer metastasis database

Annotation category 5

Gene information

Gene ID 1508
Symbol

CTSB

Synonymous

APPS|CPSB

Full name

cathepsin B

Gene description

APP secretase|amyloid precursor protein secretase|cathepsin B1|cysteine protease

Cytoband

8p22

Gene type

protein-coding

Synonymous

MIM:116810; HGNC:HGNC:2527; Ensembl:ENSG00000164733; HPRD:00287; Vega:OTTHUMG00000090799

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.312C>A; p.S104S; 8:11850881-11850881

 breastcarcinomaSubstitution - coding silent

c.964G>A; p.E322K; 8:11845181-11845181

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.103A>G; p.N35D; 8:11853352-11853352

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.297C>G; p.I99M; 8:11850896-11850896

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.381G>A; p.A127A; 8:11849111-11849111

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.380C>T; p.A127V; 8:11849112-11849112

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313T>C; p.C105R; 8:11850880-11850880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.99T>C; p.Y33Y; 8:11853356-11853356

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1017C>G; p.I339M; 8:11845128-11845128

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.75C>G; p.P25P; 8:11853380-11853380

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.53G>A; p.R18Q; 8:11853402-11853402

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.206C>T; p.P69L; 8:11852616-11852616

 livercarcinomaSubstitution - Missense

c.873A>G; p.T291T; 8:11845710-11845710

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.923-1G>T; p.?; 8:11845223-11845223

 livercarcinomaUnknown

c.97T>C; p.Y33H; 8:11853358-11853358

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.638C>A; p.P213H; 8:11847717-11847717

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.195G>A; p.G65G; 8:11852627-11852627

 skinmalignant_melanomaSubstitution - coding silent

c.676G>A; p.G226R; 8:11847679-11847679

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.842G>A; p.R281H; 8:11845741-11845741

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.581C>G; p.S194C; 8:11847774-11847774

 breastcarcinomaSubstitution - Missense

c.415C>T; p.L139F; 8:11849077-11849077

 large_intestine; coloncarcinomaSubstitution - Missense

c.415C>T; p.L139F; 8:11849077-11849077

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.467C>T; p.A156V; 8:11848132-11848132

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.536G>A; p.C179Y; 8:11847819-11847819

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.113A>C; p.N38T; 8:11853342-11853342

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.76C>G; p.L26V; 8:11853379-11853379

 livercarcinomaSubstitution - Missense

c.76C>G; p.L26V; 8:11853379-11853379

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.76C>G; p.L26V; 8:11853379-11853379

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.770C>T; p.S257L; 8:11847075-11847075

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.347C>A; p.A116D; 8:11849145-11849145

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.571G>A; p.V191I; 8:11847784-11847784

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.794-2_797delAGGAGT; p.?; 8:11845786-11845791

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaUnknown

c.428G>A; p.G143D; 8:11849064-11849064

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.176G>T; p.C59F; 8:11852646-11852646

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.807C>G; p.H269Q; 8:11845776-11845776

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.420A>C; p.T140T; 8:11849072-11849072

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - coding silent

c.420A>C; p.T140T; 8:11849072-11849072

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.402G>A; p.S134S; 8:11849090-11849090

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.385G>A; p.V129I; 8:11849107-11849107

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.625A>G; p.K209E; 8:11847730-11847730

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.625A>G; p.K209E; 8:11847730-11847730

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.625A>G; p.K209E; 8:11847730-11847730

 large_intestine; coloncarcinomaSubstitution - Missense

c.625A>G; p.K209E; 8:11847730-11847730

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.744C>A; p.P248P; 8:11847101-11847101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.755C>T; p.A252V; 8:11847090-11847090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.876C>A; p.P292P; 8:11845707-11845707

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.876C>A; p.P292P; 8:11845707-11845707

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.550A>G; p.I184V; 8:11847805-11847805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.594C>G; p.C198W; 8:11847761-11847761

 skinmalignant_melanomaSubstitution - Missense

c.181A>G; p.T61A; 8:11852641-11852641

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.835G>A; p.A279T; 8:11845748-11845748

 breastcarcinomaSubstitution - Missense