Entrez Gene

Basic Information
Gene ID	1786
Name	DNMT1
Synonymous	DNA (cytosine-5-)-methyltransferase 1;DNMT1;DNA (cytosine-5-)-methyltransferase 1
Definition	CXXC-type zinc finger protein 9\|DNA (cytosine-5)-methyltransferase 1\|DNA MTase HsaI\|DNA methyltransferase HsaI\|m.HsaI
Position	19p13.2
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.07.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1527C>A; p.S509R; 19:10154974-10154974	breast	carcinoma	Substitution - Missense
c.4021C>T; p.L1341L; 19:10138485-10138485	skin	malignant_melanoma	Substitution - coding silent
c.3996C>T; p.H1332H; 19:10138510-10138510	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.566C>T; p.S189L; 19:10175574-10175574	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3670C>T; p.P1224S; 19:10140134-10140134	skin	malignant_melanoma	Substitution - Missense
c.3964G>C; p.E1322Q; 19:10138542-10138542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4652_4661del10; p.R1551fs*55; 19:10135800-10135809	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2505C>T; p.I835I; 19:10149486-10149486	breast	carcinoma	Substitution - coding silent
c.319C>G; p.L107V; 19:10180476-10180476	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.680C>T; p.S227L; 19:10173130-10173130	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4246-1G>A; p.?; 19:10137281-10137281	skin	malignant_melanoma	Unknown
c.1147A>G; p.N383D; 19:10159743-10159743	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2813G>T; p.G938V; 19:10146384-10146384	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2813G>T; p.G938V; 19:10146384-10146384	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4456G>A; p.D1486N; 19:10136273-10136273	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2377C>T; p.H793Y; 19:10149614-10149614	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3232G>T; p.G1078C; 19:10142057-10142057	breast	carcinoma	Substitution - Missense
c.4417C>T; p.R1473C; 19:10137109-10137109	skin	malignant_melanoma	Substitution - Missense
c.4489C>T; p.P1497S; 19:10136240-10136240	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4273A>G; p.M1425V; 19:10137253-10137253	liver	carcinoma	Substitution - Missense
c.4273A>G; p.M1425V; 19:10137253-10137253	liver	carcinoma	Substitution - Missense
c.552T>C; p.S184S; 19:10175588-10175588	liver	carcinoma	Substitution - coding silent
c.3737C>T; p.S1246F; 19:10140067-10140067	skin	malignant_melanoma	Substitution - Missense
c.2507A>T; p.Y836F; 19:10149484-10149484	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2574C>T; p.D858D; 19:10148982-10148982	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.447T>C; p.P149P; 19:10177366-10177366	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1770C>T; p.V590V; 19:10154600-10154600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1719G>T; p.Q573H; 19:10154651-10154651	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.850A>C; p.K284Q; 19:10163354-10163354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1609C>T; p.P537S; 19:10154761-10154761	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3237C>T; p.G1079G; 19:10142052-10142052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2379C>T; p.H793H; 19:10149612-10149612	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4395C>T; p.G1465G; 19:10137131-10137131	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4753G>A; p.A1585T; 19:10134280-10134280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1262C>T; p.P421L; 19:10156480-10156480	skin	malignant_melanoma	Substitution - Missense
c.1567A>G; p.T523A; 19:10154934-10154934	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4590C>T; p.P1530P; 19:10136139-10136139	skin	malignant_melanoma	Substitution - coding silent
c.2268C>T; p.T756T; 19:10149918-10149918	skin	malignant_melanoma	Substitution - coding silent
c.4591G>C; p.E1531Q; 19:10136138-10136138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4591G>C; p.E1531Q; 19:10136138-10136138	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2828delC; p.P943fs*14; 19:10146369-10146369	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4520A>G; p.H1507R; 19:10136209-10136209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4652G>A; p.R1551Q; 19:10135809-10135809	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.1550A>C; p.Q517P; 19:10154951-10154951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1052C>T; p.P351L; 19:10159912-10159912	skin	malignant_melanoma	Substitution - Missense
c.4146G>A; p.S1382S; 19:10137931-10137931	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.756-17_757del19; p.?; 19:10166684-10166702	breast	carcinoma	Unknown
c.1560C>T; p.S520S; 19:10154941-10154941	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1137G>A; p.Q379Q; 19:10159753-10159753	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.30G>T; p.V10V; 19:10194870-10194870	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - coding silent
c.504A>G; p.T168T; 19:10177309-10177309	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.504A>G; p.T168T; 19:10177309-10177309	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2601G>C; p.L867L; 19:10148955-10148955	ovary	other; neoplasm	Substitution - coding silent
c.2601G>C; p.L867L; 19:10148955-10148955	ovary	other; neoplasm	Substitution - coding silent
c.4277G>A; p.R1426Q; 19:10137249-10137249	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1282G>A; p.E428K; 19:10156460-10156460	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1054A>G; p.K352E; 19:10159910-10159910	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1326C>A; p.I442I; 19:10156416-10156416	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2105A>T; p.D702V; 19:10151510-10151510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3620G>A; p.R1207H; 19:10140184-10140184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1408G>A; p.D470N; 19:10155889-10155889	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1326C>A; p.I442I; 19:10156416-10156416	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.414C>T; p.P138P; 19:10180381-10180381	breast	carcinoma	Substitution - coding silent
c.1246C>T; p.H416Y; 19:10156496-10156496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4801C>T; p.R1601*; 19:10134232-10134232	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4801C>T; p.R1601*; 19:10134232-10134232	large_intestine; colon	carcinoma	Substitution - Nonsense
c.4801C>T; p.R1601*; 19:10134232-10134232	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3886T>C; p.F1296L; 19:10139690-10139690	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3866G>A; p.R1289H; 19:10139710-10139710	large_intestine; colon	NS	Substitution - Missense
c.306A>T; p.E102D; 19:10180489-10180489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.407G>A; p.R136H; 19:10180388-10180388	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3671C>T; p.P1224L; 19:10140133-10140133	skin	malignant_melanoma	Substitution - Missense
c.3531C>T; p.F1177F; 19:10140273-10140273	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.687G>A; p.T229T; 19:10173123-10173123	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4560C>T; p.D1520D; 19:10136169-10136169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3144G>A; p.E1048E; 19:10142145-10142145	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2415C>T; p.L805L; 19:10149576-10149576	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3480C>T; p.I1160I; 19:10140324-10140324	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1164C>G; p.I388M; 19:10159726-10159726	urinary_tract; bladder	carcinoma	Substitution - Missense
c.987delC; p.E331fs*14; 19:10160392-10160392	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3526G>A; p.A1176T; 19:10140278-10140278	skin	malignant_melanoma	Substitution - Missense
c.1480G>C; p.E494Q; 19:10155021-10155021	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.633A>G; p.E211E; 19:10173873-10173873	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3488C>T; p.T1163M; 19:10140316-10140316	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4430C>T; p.S1477F; 19:10137096-10137096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4044G>A; p.K1348K; 19:10138462-10138462	prostate	carcinoma	Substitution - coding silent
c.4044G>A; p.K1348K; 19:10138462-10138462	prostate	carcinoma	Substitution - coding silent
c.4044G>A; p.K1348K; 19:10138462-10138462	prostate	carcinoma	Substitution - coding silent
c.4124C>T; p.P1375L; 19:10137953-10137953	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3066C>T; p.Y1022Y; 19:10143768-10143768	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1885G>A; p.D629N; 19:10154379-10154379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2960_2961CC>TT; p.A987V; 19:10143873-10143874	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3532C>T; p.R1178W; 19:10140272-10140272	central_nervous_system; brain	glioma	Substitution - Missense
c.112G>T; p.E38*; 19:10182046-10182046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3G>T; p.M1I; 19:10194897-10194897	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.151G>A; p.E51K; 19:10180852-10180852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2211C>T; p.A737A; 19:10151404-10151404	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2211C>T; p.A737A; 19:10151404-10151404	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.151G>A; p.E51K; 19:10180852-10180852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.151G>A; p.E51K; 19:10180852-10180852	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2211C>T; p.A737A; 19:10151404-10151404	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4C>T; p.P2S; 19:10194896-10194896	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.508C>G; p.H170D; 19:10177305-10177305	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3044A>G; p.K1015R; 19:10143790-10143790	pancreas	carcinoma	Substitution - Missense
c.3255C>T; p.F1085F; 19:10142034-10142034	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4097C>T; p.T1366M; 19:10137980-10137980	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4182C>T; p.S1394S; 19:10137895-10137895	skin	malignant_melanoma	Substitution - coding silent
c.2553C>T; p.P851P; 19:10149003-10149003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3792C>A; p.L1264L; 19:10139784-10139784	breast	carcinoma	Substitution - coding silent
c.290A>G; p.H97R; 19:10180505-10180505	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1073A>G; p.Q358R; 19:10159891-10159891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3446G>T; p.G1149V; 19:10140810-10140810	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1915G>T; p.D639Y; 19:10154349-10154349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1145C>G; p.T382R; 19:10159745-10159745	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3701G>A; p.R1234H; 19:10140103-10140103	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2339C>T; p.T780M; 19:10149652-10149652	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.906delA; p.E303fs*5; 19:10162721-10162721	oesophagus	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.3303C>A; p.N1101K; 19:10141148-10141148	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2483T>C; p.I828T; 19:10149508-10149508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.369A>G; p.A123A; 19:10180426-10180426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.807C>T; p.G269G; 19:10166634-10166634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.737G>A; p.R246Q; 19:10168348-10168348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4103G>A; p.R1368Q; 19:10137974-10137974	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>T; p.G269G; 19:10166634-10166634	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4340_4341delCA; p.S1447fs*1; 19:10137185-10137186	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2551C>T; p.P851S; 19:10149005-10149005	skin	malignant_melanoma	Substitution - Missense
c.2716G>T; p.E906*; 19:10146481-10146481	breast	carcinoma	Substitution - Nonsense
c.1696G>A; p.E566K; 19:10154674-10154674	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3672G>C; p.P1224P; 19:10140132-10140132	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2961C>G; p.A987A; 19:10143873-10143873	breast	carcinoma; lobular_carcinoma	Substitution - coding silent
c.1747G>A; p.D583N; 19:10154623-10154623	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2381C>T; p.A794V; 19:10149610-10149610	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3318T>C; p.P1106P; 19:10141133-10141133	skin	malignant_melanoma	Substitution - coding silent
c.1660G>A; p.A554T; 19:10154710-10154710	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1591A>G; p.I531V; 19:10154910-10154910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3739C>G; p.L1247V; 19:10140065-10140065	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.4150C>T; p.L1384L; 19:10137927-10137927	skin	malignant_melanoma	Substitution - coding silent
c.3404A>G; p.K1135R; 19:10140852-10140852	skin	malignant_melanoma	Substitution - Missense
c.2152delA; p.M718fs*59; 19:10151463-10151463	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.2875C>T; p.P959S; 19:10143959-10143959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4485C>T; p.L1495L; 19:10136244-10136244	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2152delA; p.M718fs*59; 19:10151463-10151463	stomach	adenocarcinoma	Deletion - Frameshift
c.2152delA; p.M718fs*59; 19:10151463-10151463	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.957A>G; p.E319E; 19:10162670-10162670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.411G>A; p.T137T; 19:10180384-10180384	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.996-9_996-8delTT; p.?; 19:10160071-10160072	pancreas	carcinoma; adenocarcinoma	Unknown
c.2116G>A; p.D706N; 19:10151499-10151499	thyroid	carcinoma	Substitution - Missense
c.929A>G; p.Q310R; 19:10162698-10162698	breast	carcinoma	Substitution - Missense
c.1372C>A; p.L458I; 19:10155925-10155925	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2981G>A; p.G994D; 19:10143853-10143853	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2721C>T; p.I907I; 19:10146476-10146476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4677C>T; p.F1559F; 19:10135784-10135784	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2066G>A; p.R689Q; 19:10151753-10151753	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.497C>T; p.T166I; 19:10177316-10177316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.768_769delGA; p.K257fs*16; 19:10166672-10166673	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2720T>C; p.I907T; 19:10146477-10146477	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1848G>A; p.T616T; 19:10154416-10154416	prostate	carcinoma	Substitution - coding silent
c.319C>T; p.L107L; 19:10180476-10180476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4394G>A; p.G1465D; 19:10137132-10137132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1941C>T; p.A647A; 19:10154323-10154323	skin	malignant_melanoma	Substitution - coding silent
c.2817G>A; p.V939V; 19:10146380-10146380	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4039G>A; p.D1347N; 19:10138467-10138467	prostate	carcinoma	Substitution - Missense
c.4039G>A; p.D1347N; 19:10138467-10138467	prostate	carcinoma	Substitution - Missense
c.4039G>A; p.D1347N; 19:10138467-10138467	prostate	carcinoma	Substitution - Missense
c.4200C>T; p.L1400L; 19:10137877-10137877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4479C>A; p.N1493K; 19:10136250-10136250	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.2262G>A; p.A754A; 19:10149924-10149924	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4027G>A; p.V1343M; 19:10138479-10138479	thyroid	carcinoma	Substitution - Missense
c.47C>T; p.P16L; 19:10194853-10194853	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4283T>A; p.I1428N; 19:10137243-10137243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2982C>T; p.G994G; 19:10143852-10143852	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3663C>T; p.C1221C; 19:10140141-10140141	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1759C>A; p.L587M; 19:10154611-10154611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.931A>G; p.I311V; 19:10162696-10162696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.931A>G; p.I311V; 19:10162696-10162696	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4286C>T; p.P1429L; 19:10137240-10137240	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1897G>A; p.A633T; 19:10154367-10154367	liver	carcinoma	Substitution - Missense
c.2557T>C; p.S853P; 19:10148999-10148999	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1897G>A; p.A633T; 19:10154367-10154367	liver	carcinoma	Substitution - Missense
c.1875C>G; p.Y625*; 19:10154389-10154389	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Nonsense
c.3319G>T; p.G1107*; 19:10141132-10141132	pancreas	carcinoma	Substitution - Nonsense
c.1016G>C; p.R339P; 19:10160043-10160043	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1884C>T; p.F628F; 19:10154380-10154380	skin	malignant_melanoma	Substitution - coding silent
c.276G>T; p.L92F; 19:10180519-10180519	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2975G>A; p.R992Q; 19:10143859-10143859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.395T>C; p.L132P; 19:10180400-10180400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3386A>G; p.E1129G; 19:10140870-10140870	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3514C>T; p.P1172S; 19:10140290-10140290	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2932G>A; p.D978N; 19:10143902-10143902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3223T>G; p.Y1075D; 19:10142066-10142066	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4769T>C; p.L1590S; 19:10134264-10134264	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2354A>G; p.D785G; 19:10149637-10149637	skin	malignant_melanoma	Substitution - Missense
c.1786C>T; p.R596*; 19:10154478-10154478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4170G>T; p.G1390G; 19:10137907-10137907	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2353G>A; p.D785N; 19:10149638-10149638	breast	carcinoma	Substitution - Missense
c.1093C>T; p.L365F; 19:10159871-10159871	skin	malignant_melanoma	Substitution - Missense
c.3945_3946CC>TT; p.(=); 19:10138560-10138561	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2826_2827CC>TT; p.P943S; 19:10146370-10146371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1938C>T; p.N646N; 19:10154326-10154326	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4509C>T; p.T1503T; 19:10136220-10136220	pancreas	carcinoma	Substitution - coding silent
c.3088T>C; p.S1030P; 19:10142201-10142201	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3419G>A; p.R1140Q; 19:10140837-10140837	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2835C>T; p.A945A; 19:10146362-10146362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2702A>C; p.E901A; 19:10146495-10146495	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2920C>T; p.R974W; 19:10143914-10143914	skin	malignant_melanoma	Substitution - Missense
c.417G>T; p.R139S; 19:10180378-10180378	liver	carcinoma	Substitution - Missense
c.4396C>T; p.R1466C; 19:10137130-10137130	skin	malignant_melanoma	Substitution - Missense
c.417G>T; p.R139S; 19:10180378-10180378	liver	carcinoma	Substitution - Missense
c.2427G>A; p.S809S; 19:10149564-10149564	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3937G>A; p.A1313T; 19:10138569-10138569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2873G>A; p.R958H; 19:10143961-10143961	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4167C>T; p.N1389N; 19:10137910-10137910	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2873G>A; p.R958H; 19:10143961-10143961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2873G>A; p.R958H; 19:10143961-10143961	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2873G>A; p.R958H; 19:10143961-10143961	liver	carcinoma	Substitution - Missense
c.1294G>A; p.E432K; 19:10156448-10156448	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.E432K; 19:10156448-10156448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.E432K; 19:10156448-10156448	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.E432K; 19:10156448-10156448	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.E432K; 19:10156448-10156448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1660G>C; p.A554P; 19:10154710-10154710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2787C>T; p.N929N; 19:10146410-10146410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.887A>G; p.K296R; 19:10162740-10162740	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2787C>T; p.N929N; 19:10146410-10146410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2619C>T; p.Y873Y; 19:10148937-10148937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1856C>T; p.T619I; 19:10154408-10154408	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.45C>A; p.V15V; 19:10194855-10194855	thyroid	other; neoplasm	Substitution - coding silent
c.647C>A; p.P216Q; 19:10173163-10173163	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4358G>T; p.R1453M; 19:10137168-10137168	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.499A>T; p.I167F; 19:10177314-10177314	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2428G>C; p.D810H; 19:10149563-10149563	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.4036G>C; p.D1346H; 19:10138470-10138470	breast	carcinoma	Substitution - Missense
c.1068C>T; p.C356C; 19:10159896-10159896	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.686C>T; p.T229M; 19:10173124-10173124	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3247T>A; p.F1083I; 19:10142042-10142042	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2895T>A; p.D965E; 19:10143939-10143939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3973C>T; p.P1325S; 19:10138533-10138533	skin	malignant_melanoma	Substitution - Missense
c.3289G>C; p.E1097Q; 19:10141162-10141162	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.858C>T; p.H286H; 19:10163346-10163346	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2318C>T; p.P773L; 19:10149868-10149868	breast	carcinoma	Substitution - Missense
c.1918G>A; p.D640N; 19:10154346-10154346	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.260A>G; p.N87S; 19:10180535-10180535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.897C>T; p.P299P; 19:10162730-10162730	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2088G>A; p.M696I; 19:10151527-10151527	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1601C>T; p.T534M; 19:10154769-10154769	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1601C>T; p.T534M; 19:10154769-10154769	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.4444G>A; p.G1482S; 19:10136285-10136285	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1453G>A; p.E485K; 19:10155048-10155048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1453G>A; p.E485K; 19:10155048-10155048	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4721G>A; p.R1574Q; 19:10135740-10135740	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3107A>G; p.H1036R; 19:10142182-10142182	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1435T>C; p.F479L; 19:10155862-10155862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1266C>T; p.I422I; 19:10156476-10156476	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3271G>T; p.A1091S; 19:10141180-10141180	skin	malignant_melanoma	Substitution - Missense
c.3109G>A; p.A1037T; 19:10142180-10142180	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2364C>T; p.N788N; 19:10149627-10149627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3124C>T; p.L1042F; 19:10142165-10142165	skin	malignant_melanoma	Substitution - Missense
c.4287C>A; p.P1429P; 19:10137239-10137239	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1927G>A; p.D643N; 19:10154337-10154337	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3691G>T; p.G1231C; 19:10140113-10140113	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3045A>C; p.K1015N; 19:10143789-10143789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.529A>C; p.K177Q; 19:10175611-10175611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1537G>A; p.V513M; 19:10154964-10154964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2189G>A; p.R730H; 19:10151426-10151426	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.541C>G; p.Q181E; 19:10175599-10175599	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2189G>A; p.R730H; 19:10151426-10151426	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2193C>A; p.I731I; 19:10151422-10151422	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4309C>T; p.R1437C; 19:10137217-10137217	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.860G>A; p.R287K; 19:10163344-10163344	urinary_tract; bladder	carcinoma	Substitution - Missense
c.689G>A; p.R230H; 19:10173121-10173121	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4766G>A; p.G1589D; 19:10134267-10134267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.860G>A; p.R287K; 19:10163344-10163344	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2520C>T; p.S840S; 19:10149471-10149471	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.3831C>T; p.S1277S; 19:10139745-10139745	skin	malignant_melanoma	Substitution - coding silent
c.1809C>T; p.T603T; 19:10154455-10154455	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.679T>G; p.S227A; 19:10173131-10173131	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>A; p.D373N; 19:10159847-10159847	skin	malignant_melanoma	Substitution - Missense
c.658G>C; p.E220Q; 19:10173152-10173152	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3617C>T; p.S1206F; 19:10140187-10140187	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4589C>T; p.P1530L; 19:10136140-10136140	skin	malignant_melanoma	Substitution - Missense
c.4589C>T; p.P1530L; 19:10136140-10136140	skin	malignant_melanoma	Substitution - Missense
c.3912C>T; p.Y1304Y; 19:10138594-10138594	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2015A>G; p.D672G; 19:10151804-10151804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3974C>T; p.P1325L; 19:10138532-10138532	skin	malignant_melanoma	Substitution - Missense
c.3450_3451insG; p.L1151fs*12; 19:10140805-10140806	liver	carcinoma	Insertion - Frameshift
c.3606G>A; p.E1202E; 19:10140198-10140198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.406C>T; p.R136C; 19:10180389-10180389	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3739C>T; p.L1247L; 19:10140065-10140065	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3002G>T; p.C1001F; 19:10143832-10143832	breast	carcinoma	Substitution - Missense
c.1732A>G; p.T578A; 19:10154638-10154638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.898G>A; p.E300K; 19:10162729-10162729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3951C>T; p.A1317A; 19:10138555-10138555	ovary	other; neoplasm	Substitution - coding silent
c.498C>T; p.T166T; 19:10177315-10177315	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3258C>T; p.L1086L; 19:10142031-10142031	NS	malignant_melanoma	Substitution - coding silent
c.4145C>T; p.S1382L; 19:10137932-10137932	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4145C>T; p.S1382L; 19:10137932-10137932	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3258C>T; p.L1086L; 19:10142031-10142031	NS	malignant_melanoma	Substitution - coding silent
c.4145C>T; p.S1382L; 19:10137932-10137932	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3710C>T; p.S1237L; 19:10140094-10140094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890G>A; p.R297Q; 19:10162737-10162737	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2575G>A; p.D859N; 19:10148981-10148981	breast	carcinoma	Substitution - Missense
c.2575G>A; p.D859N; 19:10148981-10148981	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3316C>T; p.P1106S; 19:10141135-10141135	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]