| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7345 |
Name | UCHL1 |
Synonymous | PARK5|PGP 9.5|PGP9.5|PGP95|Uch-L1;ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase);UCHL1;ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) |
Definition | neuron cytoplasmic protein 9.5|ubiquitin C-terminal hydrolase|ubiquitin carboxyl-terminal hydrolase isozyme L1|ubiquitin thioesterase L1 |
Position | 4p14 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for UCHL1 | ||
PCGP somatic mutation [Top] | ||
There is no record for UCHL1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.480C>T; p.F160F; |
skin; arm | malignant_melanoma |
c.298G>A; p.A100T; 4:40957544-40957544 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.458G>A; p.R153Q; |
large_intestine; rectum | adenoma |
c.33+6C>T; p.?; |
liver | carcinoma |
c.607G>T; p.E203*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.481C>T; p.H161Y; |
skin; trunk | malignant_melanoma |
c.404_405delAG; p.N136fs*1; |
liver | carcinoma |
c.526G>A; p.D176N; |
prostate | adenoma |
c.325G>T; p.E109*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.595A>G; p.K199E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.458G>A; p.R153Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.389C>T; p.A130V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.435C>T; p.A145A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.649G>A; p.V217M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.616G>T; p.E206*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.607G>T; p.E203*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.551A>G; p.N184S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.546G>A; p.P182P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.300C>A; p.A100A; |
large_intestine; colon | carcinoma; adenocarcinoma |