Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

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

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.38.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - 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.299C>A; p.A100D; 4:41260771-41260771

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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

 skin; armmalignant_melanomaSubstitution - coding silent

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

 prostateadenomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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

 livercarcinomaUnknown

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

 livercarcinomaUnknown

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

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

 skinmalignant_melanomaSubstitution - Missense

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

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - 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.458G>A; p.R153Q; 4:41261922-41261922

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 pancreascarcinomaSubstitution - Nonsense

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

 skinmalignant_melanomaSubstitution - coding silent

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

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

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

 urinary_tract; bladdercarcinomaSubstitution - Missense

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

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

 breastcarcinomaSubstitution - coding silent

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

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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

 livercarcinomaDeletion - Frameshift

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

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

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

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

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

 urinary_tract; bladdercarcinomaSubstitution - coding silent

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

 breastcarcinomaSubstitution - coding silent

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