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	4217
Symbol	MAP3K5
Synonymous	ASK1\|MAPKKK5\|MEKK5
Full name	mitogen-activated protein kinase kinase kinase 5
Gene description	ASK-1\|MAP/ERK kinase kinase 5\|MAPK/ERK kinase kinase 5\|MEK kinase 5\|MEKK 5\|apoptosis signal regulating kinase 1\|apoptosis signal-regulating kinase 1
Cytoband	6q22.33
Gene type	protein-coding
Synonymous	MIM:602448; HGNC:HGNC:6857; Ensembl:ENSG00000197442; HPRD:03904; Vega:OTTHUMG00000015647

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2392C>T; p.Q798*; 6:136613143-136613143	breast	carcinoma	Substitution - Nonsense
c.357G>A; p.A119A; 6:136791801-136791801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.594A>C; p.I198I; 6:136705128-136705128	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1908T>C; p.Y636Y; 6:136639569-136639569	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.594A>C; p.I198I; 6:136705128-136705128	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1276G>A; p.E426K; 6:136669373-136669373	breast	carcinoma	Substitution - Missense
c.1276G>A; p.E426K; 6:136669373-136669373	breast	carcinoma	Substitution - Missense
c.512T>G; p.V171G; 6:136720526-136720526	breast	carcinoma	Substitution - Missense
c.2752T>G; p.C918G; 6:136601907-136601907	skin	malignant_melanoma	Substitution - Missense
c.3949C>T; p.L1317L; 6:136561571-136561571	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3112G>T; p.D1038Y; 6:136592286-136592286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3112G>T; p.D1038Y; 6:136592286-136592286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2736G>A; p.K912K; 6:136601923-136601923	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.211A>C; p.T71P; 6:136791947-136791947	pancreas	carcinoma	Substitution - Missense
c.241G>A; p.G81S; 6:136791917-136791917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3781C>T; p.R1261W; 6:136562596-136562596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3171C>T; p.I1057I; 6:136592227-136592227	skin	malignant_melanoma	Substitution - coding silent
c.3171C>T; p.I1057I; 6:136592227-136592227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3496G>A; p.A1166T; 6:136580322-136580322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.48C>G; p.F16L; 6:136792110-136792110	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.749G>A; p.C250Y; 6:136698546-136698546	fallopian_tube	carcinoma; serous_carcinoma	Substitution - Missense
c.749G>A; p.C250Y; 6:136698546-136698546	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.934G>T; p.D312Y; 6:136697260-136697260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3927A>G; p.E1309E; 6:136561593-136561593	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3719C>G; p.S1240*; 6:136567673-136567673	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Nonsense
c.2502C>A; p.P834P; 6:136611301-136611301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1731C>T; p.I577I; 6:136651041-136651041	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.539A>G; p.N180S; 6:136720499-136720499	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3815G>A; p.R1272Q; 6:136562562-136562562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2399T>C; p.V800A; 6:136613136-136613136	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4071G>C; p.G1357G; 6:136557812-136557812	breast	carcinoma	Substitution - coding silent
c.2500C>T; p.P834S; 6:136611303-136611303	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2702C>T; p.P901L; 6:136601957-136601957	skin	malignant_melanoma	Substitution - Missense
c.2042G>T; p.G681V; 6:136622956-136622956	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2618A>C; p.E873A; 6:136605270-136605270	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.455C>T; p.A152V; 6:136720583-136720583	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2791G>A; p.D931N; 6:136601868-136601868	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.736C>A; p.L246I; 6:136698559-136698559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4107T>G; p.F1369L; 6:136557776-136557776	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2293C>T; p.L765F; 6:136613242-136613242	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2718C>T; p.S906S; 6:136601941-136601941	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3486G>A; p.A1162A; 6:136580332-136580332	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1544T>C; p.V515A; 6:136656443-136656443	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2393A>G; p.Q798R; 6:136613142-136613142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3043A>G; p.T1015A; 6:136592450-136592450	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1759T>G; p.S587A; 6:136651013-136651013	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.113T>G; p.V38G; 6:136792045-136792045	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.3988-5T>C; p.?; 6:136558881-136558881	liver	carcinoma	Unknown
c.480C>A; p.F160L; 6:136720558-136720558	liver	carcinoma	Substitution - Missense
c.1446_1447GG>AA; p.G483R; 6:136659298-136659299	skin	malignant_melanoma	Substitution - Missense
c.806+1G>C; p.?; 6:136698488-136698488	ovary	carcinoma; serous_carcinoma	Unknown
c.1446_1447GG>AA; p.G483R; 6:136659298-136659299	skin	malignant_melanoma	Substitution - Missense
c.629A>G; p.Y210C; 6:136698666-136698666	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3124T>G; p.F1042V; 6:136592274-136592274	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3411+2T>C; p.?; 6:136583553-136583553	oesophagus	carcinoma; adenocarcinoma	Unknown
c.3479G>T; p.R1160L; 6:136580339-136580339	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.R256H; 6:136698528-136698528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2416G>A; p.G806S; 6:136611387-136611387	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1773G>A; p.V591V; 6:136650999-136650999	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3793G>T; p.E1265*; 6:136562584-136562584	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3793G>T; p.E1265*; 6:136562584-136562584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2815A>C; p.K939Q; 6:136601844-136601844	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1859G>T; p.R620I; 6:136639618-136639618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.971T>C; p.I324T; 6:136697223-136697223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.462G>A; p.V154V; 6:136720576-136720576	skin	malignant_melanoma	Substitution - coding silent
c.3869C>T; p.P1290L; 6:136562508-136562508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.702G>C; p.L234F; 6:136698593-136698593	breast	carcinoma	Substitution - Missense
c.35C>G; p.S12C; 6:136792123-136792123	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	thyroid	other; neoplasm	Substitution - coding silent
c.2577A>G; p.G859G; 6:136605311-136605311	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; rectum	NS	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.S53S; 6:136791999-136791999	thyroid	other; neoplasm	Substitution - coding silent
c.1103G>T; p.R368I; 6:136694290-136694290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3378_3379insA; p.V1127fs*14; 6:136583587-136583588	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3883G>A; p.E1295K; 6:136561637-136561637	skin	malignant_melanoma	Substitution - Missense
c.2599C>G; p.L867V; 6:136605289-136605289	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3518A>T; p.E1173V; 6:136567874-136567874	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2599C>G; p.L867V; 6:136605289-136605289	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3880C>T; p.P1294S; 6:136561640-136561640	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.766C>T; p.R256C; 6:136698529-136698529	skin	malignant_melanoma	Substitution - Missense
c.766C>T; p.R256C; 6:136698529-136698529	skin	malignant_melanoma	Substitution - Missense
c.528C>T; p.S176S; 6:136720510-136720510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.766C>T; p.R256C; 6:136698529-136698529	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.2323G>T; p.D775Y; 6:136613212-136613212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.766C>T; p.R256C; 6:136698529-136698529	skin	malignant_melanoma	Substitution - Missense
c.302G>A; p.S101N; 6:136791856-136791856	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2903C>T; p.P968L; 6:136592590-136592590	ovary	other; neoplasm	Substitution - Missense
c.2382C>T; p.L794L; 6:136613153-136613153	skin	malignant_melanoma	Substitution - coding silent
c.2574C>T; p.Y858Y; 6:136605314-136605314	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3196G>A; p.V1066M; 6:136592202-136592202	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.326A>T; p.E109V; 6:136791832-136791832	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3428G>A; p.R1143Q; 6:136580390-136580390	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3428G>A; p.R1143Q; 6:136580390-136580390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4011A>G; p.L1337L; 6:136558853-136558853	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3366T>C; p.H1122H; 6:136583600-136583600	stomach	adenocarcinoma	Substitution - coding silent
c.3737G>A; p.G1246E; 6:136567655-136567655	skin	malignant_melanoma	Substitution - Missense
c.1262delA; p.K421fs*37; 6:136669387-136669387	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3737G>A; p.G1246E; 6:136567655-136567655	skin	malignant_melanoma	Substitution - Missense
c.1963G>A; p.E655K; 6:136637378-136637378	skin	malignant_melanoma	Substitution - Missense
c.3323C>T; p.T1108I; 6:136583643-136583643	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3593A>G; p.H1198R; 6:136567799-136567799	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3177G>A; p.T1059T; 6:136592221-136592221	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2435A>T; p.N812I; 6:136611368-136611368	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1744G>A; p.E582K; 6:136651028-136651028	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1744G>A; p.E582K; 6:136651028-136651028	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1744G>A; p.E582K; 6:136651028-136651028	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2005G>T; p.D669Y; 6:136637336-136637336	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.574C>G; p.L192V; 6:136720464-136720464	urinary_tract; bladder	carcinoma	Substitution - Missense
c.871G>T; p.E291*; 6:136697323-136697323	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3011_3012CC>TT; p.S1004F; 6:136592481-136592482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1557A>G; p.L519L; 6:136656430-136656430	breast	carcinoma	Substitution - coding silent
c.1030G>C; p.D344H; 6:136696003-136696003	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2664A>G; p.Q888Q; 6:136605224-136605224	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1666G>A; p.V556M; 6:136656321-136656321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3466G>C; p.D1156H; 6:136580352-136580352	breast	carcinoma	Substitution - Missense
c.2457G>T; p.K819N; 6:136611346-136611346	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.899G>T; p.R300L; 6:136697295-136697295	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.974A>T; p.Q325L; 6:136697220-136697220	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1681G>A; p.V561I; 6:136651091-136651091	skin	malignant_melanoma	Substitution - Missense
c.3217T>A; p.L1073I; 6:136592181-136592181	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1314C>G; p.L438L; 6:136669335-136669335	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4109G>A; p.R1370Q; 6:136557774-136557774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1443_1444insT; p.L482fs*9; 6:136659301-136659302	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2365G>T; p.E789*; 6:136613170-136613170	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.4109G>A; p.R1370Q; 6:136557774-136557774	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4109G>A; p.R1370Q; 6:136557774-136557774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2320A>C; p.K774Q; 6:136613215-136613215	skin	malignant_melanoma	Substitution - Missense
c.2564C>G; p.P855R; 6:136605324-136605324	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1475T>C; p.M492T; 6:136659270-136659270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3744G>A; p.M1248I; 6:136567648-136567648	skin	malignant_melanoma	Substitution - Missense
c.736C>T; p.L246F; 6:136698559-136698559	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.3090T>A; p.A1030A; 6:136592308-136592308	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.3321C>T; p.A1107A; 6:136583645-136583645	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3357C>T; p.F1119F; 6:136583609-136583609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1554T>G; p.I518M; 6:136656433-136656433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3334A>T; p.K1112*; 6:136583632-136583632	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2505T>C; p.C835C; 6:136611298-136611298	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3875-1G>A; p.?; 6:136561646-136561646	urinary_tract; bladder	carcinoma	Unknown
c.1456G>A; p.V486I; 6:136659289-136659289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3215C>T; p.S1072F; 6:136592183-136592183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3479G>A; p.R1160Q; 6:136580339-136580339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1312C>T; p.L438F; 6:136669337-136669337	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3639C>T; p.V1213V; 6:136567753-136567753	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3040C>T; p.R1014W; 6:136592453-136592453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3040C>T; p.R1014W; 6:136592453-136592453	breast	carcinoma	Substitution - Missense
c.2107C>T; p.Q703*; 6:136622891-136622891	skin	malignant_melanoma	Substitution - Nonsense
c.3040C>T; p.R1014W; 6:136592453-136592453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1573delG; p.V525fs*1; 6:136656414-136656414	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.891A>G; p.A297A; 6:136697303-136697303	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.959C>A; p.S320Y; 6:136697235-136697235	skin; trunk	malignant_melanoma	Substitution - Missense
c.3286G>T; p.E1096*; 6:136583680-136583680	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4066G>A; p.G1356R; 6:136557817-136557817	skin	malignant_melanoma	Substitution - Missense
c.898C>T; p.R300W; 6:136697296-136697296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3240G>A; p.P1080P; 6:136583726-136583726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3240G>A; p.P1080P; 6:136583726-136583726	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1533C>T; p.L511L; 6:136656454-136656454	skin	malignant_melanoma	Substitution - coding silent
c.541A>T; p.I181F; 6:136720497-136720497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1972G>A; p.G658R; 6:136637369-136637369	skin	malignant_melanoma	Substitution - Missense
c.3453G>A; p.W1151*; 6:136580365-136580365	skin	malignant_melanoma	Substitution - Nonsense
c.3069G>A; p.E1023E; 6:136592329-136592329	skin	malignant_melanoma	Substitution - coding silent
c.1641C>T; p.V547V; 6:136656346-136656346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1308G>T; p.A436A; 6:136669341-136669341	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.532G>T; p.A178S; 6:136720506-136720506	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3239C>T; p.P1080L; 6:136583727-136583727	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.482G>C; p.R161P; 6:136720556-136720556	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.785A>T; p.K262M; 6:136698510-136698510	breast	carcinoma	Substitution - Missense
c.2975A>T; p.K992I; 6:136592518-136592518	skin; neck	malignant_melanoma	Substitution - Missense
c.2766T>C; p.D922D; 6:136601893-136601893	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.756T>A; p.P252P; 6:136698539-136698539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1968G>T; p.E656D; 6:136637373-136637373	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.726C>T; p.F242F; 6:136698569-136698569	breast	carcinoma	Substitution - coding silent
c.2128G>A; p.E710K; 6:136622870-136622870	skin	malignant_melanoma	Substitution - Missense
c.3461C>A; p.A1154D; 6:136580357-136580357	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2944T>C; p.Y982H; 6:136592549-136592549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1002A>G; p.V334V; 6:136696031-136696031	liver	carcinoma	Substitution - coding silent
c.3548A>T; p.E1183V; 6:136567844-136567844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3427C>T; p.R1143W; 6:136580391-136580391	breast	carcinoma	Substitution - Missense
c.3427C>T; p.R1143W; 6:136580391-136580391	skin	malignant_melanoma	Substitution - Missense
c.3116C>A; p.S1039Y; 6:136592282-136592282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3154G>A; p.A1052T; 6:136592244-136592244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3667G>A; p.V1223M; 6:136567725-136567725	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2862T>G; p.L954L; 6:136601038-136601038	prostate	carcinoma	Substitution - coding silent
c.850C>G; p.R284G; 6:136697344-136697344	breast	carcinoma	Substitution - Missense
c.1340A>C; p.E447A; 6:136669309-136669309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414A>G; p.K805R; 6:136613121-136613121	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2085C>T; p.Y695Y; 6:136622913-136622913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2085C>T; p.Y695Y; 6:136622913-136622913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.831C>G; p.L277L; 6:136697363-136697363	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1668G>C; p.V556V; 6:136656319-136656319	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2352A>G; p.T784T; 6:136613183-136613183	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.325G>A; p.E109K; 6:136791833-136791833	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3171C>A; p.I1057I; 6:136592227-136592227	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1144G>A; p.E382K; 6:136694249-136694249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2957C>T; p.S986L; 6:136592536-136592536	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1520C>T; p.P507L; 6:136659225-136659225	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1130C>T; p.P377L; 6:136694263-136694263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1595C>T; p.P532L; 6:136656392-136656392	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1222G>T; p.D408Y; 6:136694171-136694171	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.809A>T; p.Q270L; 6:136697385-136697385	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2495T>C; p.I832T; 6:136611308-136611308	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.640C>T; p.P214S; 6:136698655-136698655	skin	malignant_melanoma	Substitution - Missense
c.2367A>T; p.E789D; 6:136613168-136613168	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.864T>A; p.T288T; 6:136697330-136697330	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.510G>A; p.G170G; 6:136720528-136720528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2959_2960insAGA; p.P987>QT; 6:136592533-136592534	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Complex - insertion inframe
c.2960_2961insCGA; p.D988_T989insD; 6:136592532-136592533	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.2960_2961insCGA; p.D988_T989insD; 6:136592532-136592533	breast	carcinoma	Insertion - In frame
c.2878+1G>A; p.?; 6:136601021-136601021	NS	malignant_melanoma	Unknown
c.1408G>A; p.E470K; 6:136659337-136659337	skin	malignant_melanoma	Substitution - Missense
c.3507C>A; p.I1169I; 6:136580311-136580311	pancreas	carcinoma	Substitution - coding silent
c.2380C>T; p.L794F; 6:136613155-136613155	skin	malignant_melanoma	Substitution - Missense
c.2177T>C; p.I726T; 6:136614260-136614260	central_nervous_system; brain	glioma	Substitution - Missense
c.3021A>T; p.E1007D; 6:136592472-136592472	skin	malignant_melanoma	Substitution - Missense
c.589G>A; p.E197K; 6:136705133-136705133	skin	malignant_melanoma	Substitution - Missense
c.1452C>T; p.A484A; 6:136659293-136659293	skin	malignant_melanoma	Substitution - coding silent
c.2431A>G; p.I811V; 6:136611372-136611372	central_nervous_system; brain	glioma	Substitution - Missense
c.1440T>A; p.F480L; 6:136659305-136659305	skin	malignant_melanoma	Substitution - Missense
c.875T>C; p.L292S; 6:136697319-136697319	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3308G>A; p.R1103Q; 6:136583658-136583658	skin	malignant_melanoma	Substitution - Missense
c.1352A>G; p.E451G; 6:136669297-136669297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2346T>A; p.F782L; 6:136613189-136613189	skin	malignant_melanoma	Substitution - Missense
c.1010_1015delTAGAAA; p.L337_K339>*; 6:136696018-136696023	endometrium	carcinoma; endometrioid_carcinoma	Complex - deletion inframe
c.3270C>G; p.L1090L; 6:136583696-136583696	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2238G>A; p.E746E; 6:136614199-136614199	skin	malignant_melanoma	Substitution - coding silent
c.2011C>T; p.L671L; 6:136637330-136637330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3904A>C; p.N1302H; 6:136561616-136561616	breast	carcinoma	Substitution - Missense
c.3760A>T; p.R1254*; 6:136567632-136567632	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2089G>A; p.G697S; 6:136622909-136622909	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3232G>A; p.E1078K; 6:136583734-136583734	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1221G>A; p.T407T; 6:136694172-136694172	skin	malignant_melanoma	Substitution - coding silent
c.3229delG; p.A1077fs*6; 6:136583737-136583737	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1770C>T; p.H590H; 6:136651002-136651002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1037C>A; p.A346D; 6:136695996-136695996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3229delG; p.A1077fs*6; 6:136583737-136583737	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.476C>T; p.A159V; 6:136720562-136720562	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.172G>A; p.E58K; 6:136791986-136791986	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521+9T>C; p.?; 6:136611273-136611273	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Unknown
c.2930G>T; p.S977I; 6:136592563-136592563	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1184G>A; p.R395Q; 6:136694209-136694209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2521+9T>C; p.?; 6:136611273-136611273	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Unknown
c.2300G>A; p.R767H; 6:136613235-136613235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521+9T>C; p.?; 6:136611273-136611273	soft_tissue; striated_muscle	rhabdomyosarcoma	Unknown
c.1324G>A; p.A442T; 6:136669325-136669325	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2300G>A; p.R767H; 6:136613235-136613235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3942C>T; p.T1314T; 6:136561578-136561578	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1820C>G; p.S607C; 6:136642538-136642538	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2870G>A; p.G957E; 6:136601030-136601030	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2762C>G; p.P921R; 6:136601897-136601897	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1679C>T; p.P560L; 6:136656308-136656308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation