lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	2052
Symbol	EPHX1
Synonymous	EPHX\|EPOX\|HYL1\|MEH
Full name	epoxide hydrolase 1, microsomal (xenobiotic)
Gene description	epoxide hydratase\|epoxide hydrolase 1
Cytoband	1q42.1
Gene type	protein-coding
Synonymous	MIM:132810; HGNC:HGNC:3401; Ensembl:ENSG00000143819; HPRD:00581; Vega:OTTHUMG00000037743

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.130G>C; p.E44Q; 1:225828859-225828859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>A; p.A205T; 1:225839237-225839237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1030G>A; p.G344S; 1:225842464-225842464	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.489C>T; p.L163L; 1:225838778-225838778	skin	malignant_melanoma	Substitution - coding silent
c.381C>A; p.F127L; 1:225838670-225838670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.284_285CC>TT; p.S95F; 1:225831879-225831880	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.823A>G; p.T275A; 1:225839929-225839929	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.804C>T; p.F268F; 1:225839910-225839910	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.357G>A; p.K119K; 1:225831952-225831952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.878T>C; p.L293P; 1:225839984-225839984	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.184-2A>T; p.?; 1:225831777-225831777	ovary	carcinoma; serous_carcinoma	Unknown
c.688C>T; p.L230L; 1:225839312-225839312	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.213T>C; p.R71R; 1:225831808-225831808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1176C>T; p.V392V; 1:225845155-225845155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1071C>T; p.N357N; 1:225844528-225844528	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071C>T; p.N357N; 1:225844528-225844528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071C>T; p.N357N; 1:225844528-225844528	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.799C>T; p.R267C; 1:225839905-225839905	prostate	carcinoma	Substitution - Missense
c.1248G>A; p.K416K; 1:225845227-225845227	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1197T>C; p.S399S; 1:225845176-225845176	liver	carcinoma	Substitution - coding silent
c.1197T>C; p.S399S; 1:225845176-225845176	liver	carcinoma	Substitution - coding silent
c.1245C>A; p.F415L; 1:225845224-225845224	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.146G>A; p.R49H; 1:225828875-225828875	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>A; p.G397D; 1:225845169-225845169	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.337T>C; p.Y113H; 1:225831932-225831932	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.337T>C; p.Y113H; 1:225831932-225831932	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.337T>C; p.Y113H; 1:225831932-225831932	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.162A>G; p.E54E; 1:225828891-225828891	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1072G>A; p.V358I; 1:225844529-225844529	breast	carcinoma	Substitution - Missense
c.210C>T; p.F70F; 1:225831805-225831805	skin	malignant_melanoma	Substitution - coding silent
c.67A>C; p.K23Q; 1:225828796-225828796	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1031G>A; p.G344D; 1:225842465-225842465	pancreas	carcinoma	Substitution - Missense
c.870C>T; p.F290F; 1:225839976-225839976	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.365G>T; p.G122V; 1:225838654-225838654	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.365G>T; p.G122V; 1:225838654-225838654	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1104C>A; p.I368I; 1:225844561-225844561	pancreas	carcinoma	Substitution - coding silent
c.1104C>A; p.I368I; 1:225844561-225844561	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.18C>G; p.L6L; 1:225828747-225828747	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.113C>T; p.T38M; 1:225828842-225828842	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.858G>A; p.K286K; 1:225839964-225839964	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.673G>T; p.G225W; 1:225839297-225839297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>T; p.R338*; 1:225842446-225842446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1223C>A; p.T408K; 1:225845202-225845202	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.992C>T; p.T331I; 1:225842426-225842426	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.970T>C; p.Y324H; 1:225842404-225842404	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.229G>A; p.E77K; 1:225831824-225831824	liver	carcinoma	Substitution - Missense
c.345C>T; p.H115H; 1:225831940-225831940	skin	malignant_melanoma	Substitution - coding silent
c.393_394insC; p.Q134fs*26; 1:225838682-225838683	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1350G>C; p.S450S; 1:225845329-225845329	thyroid	other; neoplasm	Substitution - coding silent
c.980A>G; p.E327G; 1:225842414-225842414	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1075A>G; p.M359V; 1:225844532-225844532	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1075A>G; p.M359V; 1:225844532-225844532	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1075A>G; p.M359V; 1:225844532-225844532	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1075A>G; p.M359V; 1:225844532-225844532	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1075A>G; p.M359V; 1:225844532-225844532	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1075A>G; p.M359V; 1:225844532-225844532	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.848_849insC; p.V285fs*24; 1:225839954-225839955	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1023G>T; p.E341D; 1:225842457-225842457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.280A>G; p.I94V; 1:225831875-225831875	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>G; p.Y339C; 1:225842450-225842450	liver	carcinoma	Substitution - Missense
c.270G>A; p.L90L; 1:225831865-225831865	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.166T>G; p.S56A; 1:225828895-225828895	ovary	other; neoplasm	Substitution - Missense
c.166T>G; p.S56A; 1:225828895-225828895	ovary	other; neoplasm	Substitution - Missense
c.1079T>C; p.L360P; 1:225844536-225844536	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.211C>T; p.R71C; 1:225831806-225831806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.844C>G; p.L282V; 1:225839950-225839950	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.324G>T; p.E108D; 1:225831919-225831919	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.681G>T; p.W227C; 1:225839305-225839305	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.132delG; p.D45fs*46; 1:225828861-225828861	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.364+1G>A; p.?; 1:225831960-225831960	pleura	pulmonary_blastoma	Unknown
c.602C>T; p.S201L; 1:225839226-225839226	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.394delC; p.Q134fs*12; 1:225838683-225838683	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.394delC; p.Q134fs*12; 1:225838683-225838683	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.416A>G; p.H139R; 1:225838705-225838705	skin	malignant_melanoma	Substitution - Missense
c.416A>G; p.H139R; 1:225838705-225838705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.416A>G; p.H139R; 1:225838705-225838705	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1263C>A; p.I421I; 1:225845242-225845242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.884_885GG>AA; p.R295K; 1:225839990-225839991	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1283G>A; p.R428H; 1:225845262-225845262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.29T>G; p.V10G; 1:225828758-225828758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.884G>A; p.R295K; 1:225839990-225839990	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1223C>T; p.T408M; 1:225845202-225845202	central_nervous_system; brain	glioma	Substitution - Missense
c.1150A>G; p.T384A; 1:225844607-225844607	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.733G>C; p.G245R; 1:225839839-225839839	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1114C>T; p.R372C; 1:225844571-225844571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.95G>T; p.G32V; 1:225828824-225828824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.690G>C; p.L230L; 1:225839314-225839314	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.706G>A; p.A236T; 1:225839330-225839330	liver	carcinoma	Substitution - Missense
c.706G>A; p.A236T; 1:225839330-225839330	liver	carcinoma	Substitution - Missense
c.9A>T; p.L3L; 1:225828738-225828738	liver	carcinoma	Substitution - coding silent
c.1041-1G>A; p.?; 1:225844497-225844497	stomach	carcinoma; adenocarcinoma	Unknown
c.9A>T; p.L3L; 1:225828738-225828738	liver	carcinoma	Substitution - coding silent
c.255C>G; p.F85L; 1:225831850-225831850	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.201C>T; p.I67I; 1:225831796-225831796	skin	malignant_melanoma	Substitution - coding silent
c.1166G>A; p.R389Q; 1:225844623-225844623	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1005G>T; p.T335T; 1:225842439-225842439	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1051C>A; p.L351M; 1:225844508-225844508	liver	carcinoma	Substitution - Missense
c.1051C>A; p.L351M; 1:225844508-225844508	liver	carcinoma	Substitution - Missense
c.183C>T; p.H61H; 1:225828912-225828912	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1045T>C; p.F349L; 1:225844502-225844502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1344C>T; p.F448F; 1:225845323-225845323	skin	malignant_melanoma	Substitution - coding silent
c.719C>A; p.P240H; 1:225839343-225839343	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.911G>A; p.C304Y; 1:225840017-225840017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1298C>T; p.A433V; 1:225845277-225845277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.891C>T; p.S297S; 1:225839997-225839997	pancreas	carcinoma	Substitution - coding silent
c.13A>G; p.I5V; 1:225828742-225828742	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.212G>T; p.R71L; 1:225831807-225831807	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.16C>A; p.L6I; 1:225828745-225828745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.690G>A; p.L230L; 1:225839314-225839314	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.359T>C; p.I120T; 1:225831954-225831954	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.335G>T; p.R112I; 1:225831930-225831930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>C; p.R372P; 1:225844572-225844572	liver	carcinoma	Substitution - Missense
c.1115G>C; p.R372P; 1:225844572-225844572	liver	carcinoma	Substitution - Missense
c.1004C>T; p.T335M; 1:225842438-225842438	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.343C>T; p.H115Y; 1:225831938-225831938	skin	malignant_melanoma	Substitution - Missense
c.466G>A; p.E156K; 1:225838755-225838755	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1025A>C; p.D342A; 1:225842459-225842459	liver	carcinoma	Substitution - Missense
c.539T>A; p.V180D; 1:225838828-225838828	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.465C>T; p.Y155Y; 1:225838754-225838754	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.427C>T; p.P143S; 1:225838716-225838716	breast	carcinoma	Substitution - Missense
c.1314G>A; p.P438P; 1:225845293-225845293	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.340C>T; p.P114S; 1:225831935-225831935	skin	malignant_melanoma	Substitution - Missense
c.1024G>A; p.D342N; 1:225842458-225842458	skin	malignant_melanoma	Substitution - Missense
c.469_470delTT; p.F157fs*2; 1:225838758-225838759	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.703A>T; p.M235L; 1:225839327-225839327	liver	carcinoma	Substitution - Missense
c.703A>T; p.M235L; 1:225839327-225839327	liver	carcinoma	Substitution - Missense
c.805G>A; p.G269R; 1:225839911-225839911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.736C>T; p.L246L; 1:225839842-225839842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation