Entrez Gene

Basic Information
Gene ID	50507
Name	NOX4
Synonymous	NADPH oxidase 4;NOX4;NADPH oxidase 4
Definition	kidney oxidase-1\|kidney superoxide-producing NADPH oxidase\|renal NAD(P)H-oxidase
Position	11q14.2-q21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1240G>A; p.G414R; 11:89342171-89342171	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.639G>A; p.L213L; 11:89402533-89402533	skin	malignant_melanoma	Substitution - coding silent
c.1179C>T; p.S393S; 11:89355000-89355000	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.828C>T; p.F276F; 11:89402344-89402344	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1075-3_1075-2insT; p.?; 11:89373494-89373495	NS	malignant_melanoma	Unknown
c.1075-3_1075-2insT; p.?; 11:89373494-89373495	NS	malignant_melanoma	Unknown
c.933C>A; p.I311I; 11:89400293-89400293	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.933C>A; p.I311I; 11:89400293-89400293	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1259C>T; p.S420L; 11:89342152-89342152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.763T>A; p.F255I; 11:89402409-89402409	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1516-1G>T; p.?; 11:89335946-89335946	lung	carcinoma; adenocarcinoma	Unknown
c.1138C>T; p.R380*; 11:89355041-89355041	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.20G>C; p.S7T; 11:89491227-89491227	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.661A>G; p.T221A; 11:89402511-89402511	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.446A>T; p.E149V; 11:89444136-89444136	urinary_tract; bladder	carcinoma	Substitution - Missense
c.150G>T; p.L50F; 11:89490461-89490461	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.942C>T; p.V314V; 11:89400284-89400284	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.846G>C; p.Q282H; 11:89402326-89402326	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1405T>G; p.F469V; 11:89340104-89340104	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.972C>G; p.I324M; 11:89400254-89400254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.691C>T; p.R231*; 11:89402481-89402481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.854T>C; p.L285P; 11:89400372-89400372	skin	malignant_melanoma	Substitution - Missense
c.1446G>A; p.K482K; 11:89340063-89340063	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1308T>C; p.T436T; 11:89342103-89342103	breast	carcinoma	Substitution - coding silent
c.237C>A; p.L79L; 11:89451812-89451812	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>A; p.L79L; 11:89451812-89451812	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.237C>A; p.L79L; 11:89451812-89451812	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.733G>T; p.E245*; 11:89402439-89402439	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1315G>T; p.A439S; 11:89342096-89342096	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.863C>T; p.S288F; 11:89400363-89400363	skin	malignant_melanoma	Substitution - Missense
c.300A>C; p.K100N; 11:89449489-89449489	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.463C>G; p.L155V; 11:89440700-89440700	NS	NS	Substitution - Missense
c.896T>G; p.L299R; 11:89400330-89400330	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.481G>A; p.G161S; 11:89432851-89432851	breast	carcinoma	Substitution - Missense
c.852G>T; p.W284C; 11:89400374-89400374	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946A>C; p.S316R; 11:89400280-89400280	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.946A>C; p.S316R; 11:89400280-89400280	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.886G>T; p.A296S; 11:89400340-89400340	prostate	carcinoma	Substitution - Missense
c.1075-3delT; p.?; 11:89373495-89373495	stomach	adenocarcinoma	Unknown
c.1075-3delT; p.?; 11:89373495-89373495	ovary	carcinoma; serous_carcinoma	Unknown
c.389T>A; p.F130Y; 11:89444193-89444193	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.318T>C; p.I106I; 11:89449471-89449471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.389T>A; p.F130Y; 11:89444193-89444193	liver	carcinoma	Substitution - Missense
c.1109A>C; p.H370P; 11:89373458-89373458	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.455G>T; p.R152I; 11:89440708-89440708	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.967G>A; p.E323K; 11:89400259-89400259	skin	malignant_melanoma	Substitution - Missense
c.455G>T; p.R152I; 11:89440708-89440708	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1083T>C; p.T361T; 11:89373484-89373484	breast	carcinoma	Substitution - coding silent
c.1089C>G; p.T363T; 11:89373478-89373478	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.476-1G>A; p.?; 11:89432857-89432857	skin	malignant_melanoma	Unknown
c.349+9G>T; p.?; 11:89449431-89449431	liver	carcinoma	Unknown
c.349+9G>T; p.?; 11:89449431-89449431	liver	carcinoma	Unknown
c.496T>G; p.C166G; 11:89432836-89432836	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.725A>T; p.Y242F; 11:89402447-89402447	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568T>A; p.F190I; 11:89421963-89421963	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1171C>T; p.Q391*; 11:89355008-89355008	pancreas	carcinoma; acinar_carcinoma	Substitution - Nonsense
c.1124G>A; p.G375E; 11:89373443-89373443	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.669T>C; p.P223P; 11:89402503-89402503	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1124G>A; p.G375E; 11:89373443-89373443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1135G>T; p.E379*; 11:89373432-89373432	liver	carcinoma	Substitution - Nonsense
c.1135G>T; p.E379*; 11:89373432-89373432	liver	carcinoma	Substitution - Nonsense
c.804G>A; p.K268K; 11:89402368-89402368	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.18G>A; p.R6R; 11:89491229-89491229	skin	malignant_melanoma	Substitution - coding silent
c.731C>G; p.S244*; 11:89402441-89402441	breast	carcinoma	Substitution - Nonsense
c.1281C>T; p.L427L; 11:89342130-89342130	breast	carcinoma	Substitution - coding silent
c.1349A>T; p.K450I; 11:89340160-89340160	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.698G>C; p.S233T; 11:89402474-89402474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.615G>A; p.T205T; 11:89421916-89421916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.615G>A; p.T205T; 11:89421916-89421916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1351C>G; p.P451A; 11:89340158-89340158	NS	NS	Substitution - Missense
c.1337+2T>C; p.?; 11:89342072-89342072	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.312C>T; p.F104F; 11:89449477-89449477	skin	malignant_melanoma	Substitution - coding silent
c.1509G>A; p.G503G; 11:89337453-89337453	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1726T>A; p.S576T; 11:89326767-89326767	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.796T>G; p.F266V; 11:89402376-89402376	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1391G>A; p.R464K; 11:89340118-89340118	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1616G>A; p.G539E; 11:89335845-89335845	skin	malignant_melanoma	Substitution - Missense
c.1360C>T; p.L454F; 11:89340149-89340149	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1360C>T; p.L454F; 11:89340149-89340149	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.888C>T; p.A296A; 11:89400338-89400338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.589T>A; p.F197I; 11:89421942-89421942	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.458A>G; p.K153R; 11:89440705-89440705	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1662G>T; p.K554N; 11:89326831-89326831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1616+1G>T; p.?; 11:89335844-89335844	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.1447T>A; p.F483I; 11:89337515-89337515	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.249C>T; p.L83L; 11:89451800-89451800	skin	malignant_melanoma	Substitution - coding silent
c.78T>C; p.N26N; 11:89490533-89490533	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.181G>A; p.A61T; 11:89451868-89451868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1392A>G; p.R464R; 11:89340117-89340117	breast	carcinoma	Substitution - coding silent
c.206G>T; p.S69I; 11:89451843-89451843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663C>T; p.T221T; 11:89402509-89402509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.475+3A>G; p.?; 11:89440685-89440685	skin; trunk	malignant_melanoma; nodular	Unknown
c.350G>T; p.G117V; 11:89444232-89444232	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1574G>A; p.R525Q; 11:89335887-89335887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.911G>A; p.R304Q; 11:89400315-89400315	bone; pelvis	chondrosarcoma	Substitution - Missense
c.567C>T; p.I189I; 11:89421964-89421964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.480T>C; p.P160P; 11:89432852-89432852	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1619A>G; p.K540R; 11:89326874-89326874	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1371A>G; p.L457L; 11:89340138-89340138	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.427G>A; p.A143T; 11:89444155-89444155	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.365C>T; p.A122V; 11:89444217-89444217	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.767C>G; p.S256*; 11:89402405-89402405	lung	carcinoma; non_small_cell_carcinoma	Substitution - Nonsense
c.543A>C; p.A181A; 11:89432789-89432789	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1339G>T; p.D447Y; 11:89340170-89340170	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1250T>C; p.F417S; 11:89342161-89342161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.275G>T; p.R92M; 11:89449514-89449514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1118T>C; p.I373T; 11:89373449-89373449	urinary_tract; bladder	carcinoma	Substitution - Missense
c.352G>A; p.V118M; 11:89444230-89444230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673G>A; p.G225S; 11:89402499-89402499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>T; p.L79L; 11:89451812-89451812	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1498C>G; p.Q500E; 11:89337464-89337464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1516-10T>C; p.?; 11:89335955-89335955	oesophagus	carcinoma; adenocarcinoma	Unknown
c.478C>T; p.P160S; 11:89432854-89432854	skin	malignant_melanoma	Substitution - Missense
c.1025A>G; p.H342R; 11:89400066-89400066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1735T>A; p.*579R; 11:89326758-89326758	lung	carcinoma; adenocarcinoma	Nonstop extension
c.1178C>A; p.S393Y; 11:89355001-89355001	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.614C>T; p.T205M; 11:89421917-89421917	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.885T>C; p.C295C; 11:89400341-89400341	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1446+2T>A; p.?; 11:89340061-89340061	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1009C>T; p.Q337*; 11:89400217-89400217	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.610C>T; p.L204L; 11:89421921-89421921	skin	malignant_melanoma	Substitution - coding silent
c.1441A>G; p.N481D; 11:89340068-89340068	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.250C>T; p.R84*; 11:89451799-89451799	prostate	carcinoma	Substitution - Nonsense
c.873G>A; p.L291L; 11:89400353-89400353	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.966G>A; p.M322I; 11:89400260-89400260	skin; trunk	malignant_melanoma	Substitution - Missense
c.1566A>T; p.G522G; 11:89335895-89335895	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1642G>T; p.G548*; 11:89326851-89326851	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.47A>G; p.H16R; 11:89491200-89491200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1617-10C>T; p.?; 11:89326886-89326886	large_intestine; colon	adenoma	Unknown
c.1286T>A; p.V429E; 11:89342125-89342125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.794A>T; p.K265I; 11:89402378-89402378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.985G>A; p.E329K; 11:89400241-89400241	skin	malignant_melanoma	Substitution - Missense
c.1219C>T; p.L407L; 11:89342192-89342192	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.981C>A; p.V327V; 11:89400245-89400245	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.406G>A; p.E136K; 11:89444176-89444176	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1012-2A>T; p.?; 11:89400081-89400081	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1322T>G; p.I441R; 11:89342089-89342089	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1346G>T; p.W449L; 11:89340163-89340163	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1658C>A; p.S553Y; 11:89326835-89326835	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1208A>T; p.N403I; 11:89354971-89354971	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1284C>G; p.C428W; 11:89342127-89342127	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.761G>A; p.G254E; 11:89402411-89402411	skin	malignant_melanoma	Substitution - Missense
c.183A>T; p.A61A; 11:89451866-89451866	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1284C>G; p.C428W; 11:89342127-89342127	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1474G>A; p.V492I; 11:89337488-89337488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1731C>G; p.F577L; 11:89326762-89326762	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>T; p.V159F; 11:89440688-89440688	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.847-1G>T; p.?; 11:89400380-89400380	lung	carcinoma; adenocarcinoma	Unknown
c.1731C>G; p.F577L; 11:89326762-89326762	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.847-1G>T; p.?; 11:89400380-89400380	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1364G>A; p.R455K; 11:89340145-89340145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1221G>C; p.L407L; 11:89342190-89342190	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.453T>C; p.P151P; 11:89440710-89440710	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1438C>T; p.H480Y; 11:89340071-89340071	prostate	carcinoma	Substitution - Missense
c.153+1delG; p.?; 11:89490457-89490457	liver	carcinoma	Unknown
c.1180G>A; p.E394K; 11:89354999-89354999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1180G>A; p.E394K; 11:89354999-89354999	skin	malignant_melanoma	Substitution - Missense
c.804G>T; p.K268N; 11:89402368-89402368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.365C>G; p.A122G; 11:89444217-89444217	large_intestine	adenoma	Substitution - Missense
c.1144C>T; p.R382*; 11:89355035-89355035	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.440G>A; p.R147Q; 11:89444142-89444142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1700G>T; p.G567V; 11:89326793-89326793	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.721G>A; p.E241K; 11:89402451-89402451	skin	malignant_melanoma	Substitution - Missense
c.243T>C; p.A81A; 11:89451806-89451806	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.996A>T; p.K332N; 11:89400230-89400230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1550C>T; p.S517L; 11:89335911-89335911	skin	malignant_melanoma	Substitution - Missense
c.200A>T; p.N67I; 11:89451849-89451849	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1706G>T; p.R569I; 11:89326787-89326787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.461T>G; p.L154R; 11:89440702-89440702	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.141C>G; p.H47Q; 11:89490470-89490470	urinary_tract; bladder	carcinoma	Substitution - Missense
c.508G>T; p.V170L; 11:89432824-89432824	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1505A>T; p.D502V; 11:89337457-89337457	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1264A>C; p.N422H; 11:89342147-89342147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]