| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2052 |
Name | EPHX1 |
Synonymous | EPHX|EPOX|HYL1|MEH;epoxide hydrolase 1, microsomal (xenobiotic);EPHX1;epoxide hydrolase 1, microsomal (xenobiotic) |
Definition | epoxide hydratase|epoxide hydrolase 1 |
Position | 1q42.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EPHX1 | ||
PCGP somatic mutation [Top] | ||
There is no record for EPHX1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.132delG; p.D45fs*46; |
liver | carcinoma; hepatocellular_carcinoma |
c.602C>T; p.S201L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.212G>T; p.R71L; 1:224086131-224086131 |
lung | carcinoma; adenocarcinoma |
c.613G>A; p.A205T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.673G>T; p.G225W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1104C>A; p.I368I; |
pancreas | carcinoma |
c.1051C>A; p.L351M; |
liver | carcinoma |
c.359T>C; p.I120T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.992C>T; p.T331I; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1071C>T; p.N357N; |
stomach | carcinoma; adenocarcinoma |
c.9A>T; p.L3L; |
liver | carcinoma |
c.706G>A; p.A236T; |
liver | carcinoma |
c.703A>T; p.M235L; |
liver | carcinoma |
c.1197T>C; p.S399S; |
liver | carcinoma |
c.229G>A; p.E77K; |
liver | carcinoma |
c.1104C>A; p.I368I; |
pancreas | carcinoma; ductal_carcinoma |
c.113C>T; p.T38M; |
lung | carcinoma; adenocarcinoma |
c.270G>A; p.L90L; |
lung | carcinoma; adenocarcinoma |
c.878T>C; p.L293P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.324G>T; p.E108D; |
autonomic_ganglia | neuroblastoma |
c.799C>T; p.R267C; |
prostate | carcinoma |
c.733G>C; p.G245R; 1:224094163-224094163 |
ovary | carcinoma; serous_carcinoma |
c.184-2A>T; p.?; 1:224086101-224086101 |
ovary | carcinoma; serous_carcinoma |
c.1030G>A; p.G344S; 1:224096788-224096788 |
ovary | carcinoma; serous_carcinoma |
c.539T>A; p.V180D; |
ovary | carcinoma; serous_carcinoma |
c.67A>C; p.K23Q; |
lung | carcinoma; adenocarcinoma |
c.1005G>T; p.T335T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.18C>G; p.L6L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1245C>A; p.F415L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1079T>C; p.L360P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.690G>A; p.L230L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.335G>T; p.R112I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.848_849insC; p.V285fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.95G>T; p.G32V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.394delC; p.Q134fs*12; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1283G>A; p.R428H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1298C>T; p.A433V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.16C>A; p.L6I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1223C>A; p.T408K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1150A>G; p.T384A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.427C>T; p.P143S; |
breast | carcinoma |
c.1176C>T; p.V392V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1263C>A; p.I421I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.183C>T; p.H61H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.393_394insC; p.Q134fs*26; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.911G>A; p.C304Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1012C>T; p.R338*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.465C>T; p.Y155Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1114C>T; p.R372C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.29T>G; p.V10G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.858G>A; p.K286K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.805G>A; p.G269R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.980A>G; p.E327G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.469_470delTT; p.F157fs*2; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.213T>C; p.R71R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1314G>A; p.P438P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.340C>T; p.P114S; |
skin | malignant_melanoma |