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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

1522

Name

CTSZ

Synonymous

cathepsin Z;CTSZ;cathepsin Z

Definition

carboxypeptidase LB|cathepsin B2|cathepsin IV|cathepsin P|cathepsin X|cathepsin Y|cathepsin Z1|cysteine-type carboxypeptidase|lysosomal carboxypeptidase B|preprocathepsin P

Position

20q13.32

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.797C>A; p.P266Q; 20:58996643-58996643

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.154C>T; p.R52W; 20:59006475-59006475

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.801+1G>A; p.?; 20:58996638-58996638

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourUnknown

c.731C>T; p.S244F; 20:58996709-58996709

 breastcarcinomaSubstitution - Missense

c.867C>G; p.N289K; 20:58995694-58995694

 breastcarcinomaSubstitution - Missense

c.386C>T; p.A129V; 20:59001566-59001566

 central_nervous_system; braingliomaSubstitution - Missense

c.819G>A; p.L273L; 20:58995742-58995742

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.523G>T; p.E175*; 20:58997718-58997718

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.652G>A; p.A218T; 20:58996788-58996788

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.202T>A; p.W68R; 20:59006427-59006427

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.696A>G; p.E232E; 20:58996744-58996744

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.389G>T; p.G130V; 20:59001563-59001563

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.852G>A; p.K284K; 20:58995709-58995709

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.850A>G; p.K284E; 20:58995711-58995711

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.A112V; 20:59001617-59001617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.A112V; 20:59001617-59001617

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.851A>G; p.K284R; 20:58995710-58995710

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.851A>G; p.K284R; 20:58995710-58995710

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.354G>C; p.L118L; 20:59001598-59001598

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.595A>G; p.R199G; 20:58997646-58997646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.404_405insG; p.N136fs*1; 20:59001547-59001548

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.339G>C; p.W113C; 20:59001613-59001613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.548G>A; p.R183Q; 20:58997693-58997693

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.334G>A; p.A112T; 20:59001618-59001618

 livercarcinomaSubstitution - Missense

c.350T>G; p.L117R; 20:59001602-59001602

 livercarcinomaSubstitution - Missense

c.350T>G; p.L117R; 20:59001602-59001602

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.362A>T; p.Q121L; 20:59001590-59001590

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.165G>A; p.E55E; 20:59006464-59006464

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.395G>T; p.C132F; 20:59001557-59001557

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.429C>A; p.Y143*; 20:59001523-59001523

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.286G>A; p.A96T; 20:59006343-59006343

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.658G>C; p.E220Q; 20:58996782-58996782

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.285C>T; p.H95H; 20:59006344-59006344

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.417C>T; p.S139S; 20:59001535-59001535

 ovaryother; neoplasmSubstitution - coding silent

c.384C>T; p.N128N; 20:59001568-59001568

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.878A>T; p.E293V; 20:58995683-58995683

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.389G>A; p.G130D; 20:59001563-59001563

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.231C>G; p.A77A; 20:59006398-59006398

 skinmalignant_melanomaSubstitution - coding silent

c.727G>A; p.V243I; 20:58996713-58996713

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.326G>T; p.R109M; 20:59001626-59001626

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.357C>T; p.S119S; 20:59001595-59001595

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.687C>T; p.I229I; 20:58996753-58996753

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.687C>T; p.I229I; 20:58996753-58996753

 urinary_tract; bladdercarcinomaSubstitution - coding silent