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

Basic Information

Gene ID

7345

Name

UCHL1

Synonymous

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase);UCHL1;ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Definition

epididymis luminal protein 117|neuron cytoplasmic protein 9.5|ubiquitin C-terminal hydrolase|ubiquitin carboxyl-terminal hydrolase isozyme L1|ubiquitin thioesterase L1

Position

4p14

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.537G>T; p.M179I; 4:41264113-41264113

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.243C>T; p.F81F; 4:41260715-41260715

 breastcarcinomaSubstitution - coding silent

c.577C>T; p.L193L; 4:41264153-41264153

 breastcarcinomaSubstitution - coding silent

c.298G>A; p.A100T; 4:41260770-41260770

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.607G>T; p.E203*; 4:41268008-41268008

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.551A>G; p.N184S; 4:41264127-41264127

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.616G>T; p.E206*; 4:41268017-41268017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.458G>A; p.R153Q; 4:41261922-41261922

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.436G>A; p.V146M; 4:41261900-41261900

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

c.457C>T; p.R153W; 4:41261921-41261921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.299C>A; p.A100D; 4:41260771-41260771

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.127C>T; p.P43S; 4:41257690-41257690

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.127C>T; p.P43S; 4:41257690-41257690

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.127C>T; p.P43S; 4:41257690-41257690

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.435C>T; p.A145A; 4:41261899-41261899

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.546G>A; p.P182P; 4:41264122-41264122

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.607G>T; p.E203*; 4:41268008-41268008

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.607G>T; p.E203*; 4:41268008-41268008

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.300C>A; p.A100A; 4:41260772-41260772

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.649G>A; p.V217M; 4:41268050-41268050

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.144G>A; p.A48A; 4:41257707-41257707

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.458G>A; p.R153Q; 4:41261922-41261922

 large_intestine; rectumadenomaSubstitution - Missense

c.552C>A; p.N184K; 4:41264128-41264128

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.389C>T; p.A130V; 4:41261778-41261778

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.352C>A; p.L118I; 4:41261741-41261741

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.466G>T; p.D156Y; 4:41263231-41263231

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.A187T; 4:41264135-41264135

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.33+6C>T; p.?; 4:41257015-41257015

 livercarcinomaUnknown

c.33+6C>T; p.?; 4:41257015-41257015

 livercarcinomaUnknown

c.404_405delAG; p.N136fs*1; 4:41261793-41261794

 livercarcinomaDeletion - Frameshift

c.595A>G; p.K199E; 4:41267996-41267996

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.325G>T; p.E109*; 4:41260797-41260797

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.616G>A; p.E206K; 4:41268017-41268017

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.532C>T; p.R178*; 4:41264108-41264108

 pancreascarcinomaSubstitution - Nonsense

c.526G>A; p.D176N; 4:41263291-41263291

 prostateadenomaSubstitution - Missense

c.480C>T; p.F160F; 4:41263245-41263245

 skin; armmalignant_melanomaSubstitution - coding silent

c.186C>T; p.F62F; 4:41260658-41260658

 skinmalignant_melanomaSubstitution - coding silent

c.581T>C; p.L194P; 4:41264157-41264157

 skinmalignant_melanomaSubstitution - Missense

c.279C>T; p.I93I; 4:41260751-41260751

 skinmalignant_melanomaSubstitution - coding silent

c.279C>T; p.I93I; 4:41260751-41260751

 skinmalignant_melanomaSubstitution - coding silent

c.434C>T; p.A145V; 4:41261898-41261898

 skinmalignant_melanomaSubstitution - Missense

c.459G>A; p.R153R; 4:41261923-41261923

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.481C>T; p.H161Y; 4:41263246-41263246

 skinmalignant_melanomaSubstitution - Missense

c.481C>T; p.H161Y; 4:41263246-41263246

 skinmalignant_melanomaSubstitution - Missense

c.485T>C; p.F162S; 4:41263250-41263250

 skinmalignant_melanomaSubstitution - Missense

c.481C>T; p.H161Y; 4:41263246-41263246

 skinmalignant_melanomaSubstitution - Missense

c.481C>T; p.H161Y; 4:41263246-41263246

 skin; trunkmalignant_melanomaSubstitution - Missense

c.559G>A; p.A187T; 4:41264135-41264135

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.53C>A; p.S18Y; 4:41257616-41257616

 thyroidother; neoplasmSubstitution - Missense

c.53C>A; p.S18Y; 4:41257616-41257616

 thyroidother; neoplasmSubstitution - Missense

c.53C>A; p.S18Y; 4:41257616-41257616

 thyroidother; neoplasmSubstitution - Missense

c.53C>A; p.S18Y; 4:41257616-41257616

 thyroidother; neoplasmSubstitution - Missense

c.15G>A; p.P5P; 4:41256991-41256991

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.15G>A; p.P5P; 4:41256991-41256991

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.14C>G; p.P5R; 4:41256990-41256990

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.340C>T; p.L114L; 4:41261729-41261729

 urinary_tract; bladdercarcinomaSubstitution - coding silent