| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1571 |
Name | CYP2E1 |
Synonymous | CPE1|CYP2E|P450-J|P450C2E;cytochrome P450, family 2, subfamily E, polypeptide 1;CYP2E1;cytochrome P450, family 2, subfamily E, polypeptide 1 |
Definition | 4-nitrophenol 2-hydroxylase|CYPIIE1|cytochrome P450 2E1|cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1|cytochrome P450-J|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase |
Position | 10q24.3-qter |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CYP2E1 | ||
PCGP somatic mutation [Top] | ||
There is no record for CYP2E1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1408G>T; p.D470Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.982G>T; p.E328*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.480G>T; p.K160N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.982G>T; p.E328*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.848T>A; p.L283*; |
liver | carcinoma; hepatocellular_carcinoma |
c.848T>A; p.L283*; |
liver | carcinoma; hepatocellular_carcinoma |
c.792C>T; p.D264D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.204C>T; p.F68F; |
oesophagus | carcinoma; adenocarcinoma |
c.1475G>A; p.R492H; |
oesophagus | carcinoma; adenocarcinoma |
c.718G>A; p.A240T; |
oesophagus | carcinoma; adenocarcinoma |
c.1298-7_1298-5delctt; p.?; |
liver | carcinoma |
c.726_727delAA; p.K243fs*5; |
liver | carcinoma; hepatocellular_carcinoma |
c.867C>T; p.I289I; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.736G>A; p.V246M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.532A>C; p.N178H; |
lung | carcinoma; adenocarcinoma |
c.19A>T; p.T7S; |
lung | carcinoma; adenocarcinoma |
c.1165G>A; p.V389I; |
lung | carcinoma; adenocarcinoma |
c.1319A>T; p.E440V; |
lung | carcinoma; adenocarcinoma |
c.244G>T; p.G82C; |
lung | carcinoma; adenocarcinoma |
c.730G>T; p.E244*; |
lung | carcinoma; adenocarcinoma |
c.329_330GG>AA; p.R110>?; |
NS | malignant_melanoma |
c.1089C>T; p.L363L; |
bone | chondrosarcoma |
c.642G>A; p.W214*; |
prostate | carcinoma |
c.58_59delGT; p.S21fs*96; |
liver | carcinoma |
c.669C>A; p.S223R; |
autonomic_ganglia | neuroblastoma |
c.168C>T; p.S56S; 10:135191057-135191057 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.168C>T; p.S56S; 10:135191057-135191057 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.504C>T; p.P168P; 10:135195634-135195634 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.222G>T; p.S74S; |
lung | carcinoma; squamous_cell_carcinoma |
c.390G>T; p.L130L; |
lung | carcinoma; squamous_cell_carcinoma |
c.206C>G; p.T69R; |
ovary | carcinoma; serous_carcinoma |
c.126C>T; p.I42I; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1156-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1439G>T; p.C480F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1316G>T; p.G439V; |
lung | carcinoma; adenocarcinoma |
c.769C>G; p.L257V; |
lung | carcinoma; adenocarcinoma |
c.557G>T; p.R186L; |
lung | carcinoma; adenocarcinoma |
c.126C>G; p.I42M; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.435C>T; p.S145S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1345C>A; p.L449I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.469G>A; p.A157T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1408G>A; p.D470N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.41C>T; p.A14V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.844C>T; p.R282C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.376C>T; p.R126W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.584A>C; p.K195T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1076G>A; p.R359Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.982G>T; p.E328*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.882C>T; p.A294A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1145T>G; p.L382R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1010G>A; p.R337Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1440T>C; p.C480C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.982G>T; p.E328*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1134C>T; p.F378F; |
urinary_tract; bladder | carcinoma |
c.861C>T; p.D287D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1102C>A; p.L368M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.94C>G; p.L32V; |
breast | carcinoma |
c.12C>T; p.L4L; |
breast | carcinoma |
c.1390G>A; p.V464I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.959A>C; p.E320A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.663T>C; p.F221F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1150C>T; p.P384S; |
prostate | carcinoma |
c.62C>T; p.S21F; |
skin | malignant_melanoma |
c.112C>T; p.P38S; |
skin | malignant_melanoma |
c.934C>T; p.L312F; |
skin | malignant_melanoma |
c.638C>T; p.P213L; |
skin | malignant_melanoma |
c.964G>A; p.E322K; |
skin; mucosal | malignant_melanoma |
c.1027G>A; p.D343N; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.663T>C; p.F221F; |
stomach | adenocarcinoma |