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	4249
Symbol	MGAT5
Synonymous	GNT-V\|GNT-VA
Full name	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
Gene description	N-acetylglucosaminyl-transferase V\|alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A\|alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase\|glcNAc-T V\|mannoside acetylglucosaminyltransferase 5
Cytoband	2q21.3
Gene type	protein-coding
Synonymous	MIM:601774; HGNC:HGNC:7049; Ensembl:ENSG00000152127; HPRD:03467; Vega:OTTHUMG00000131681

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1827C>T; p.C609C; 2:134428397-134428397	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1500G>A; p.R500R; 2:134403107-134403107	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2165G>A; p.R722K; 2:134448786-134448786	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1228C>T; p.Q410*; 2:134349920-134349920	breast	carcinoma	Substitution - Nonsense
c.469_470delGA; p.E157fs*34; 2:134317591-134317592	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.861G>C; p.E287D; 2:134341643-134341643	liver	carcinoma	Substitution - Missense
c.139C>T; p.R47C; 2:134254542-134254542	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1029C>T; p.D343D; 2:134344981-134344981	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2040C>A; p.T680T; 2:134448661-134448661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2160C>T; p.H720H; 2:134448781-134448781	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2146G>A; p.A716T; 2:134448767-134448767	thyroid	other; neoplasm	Substitution - Missense
c.570T>G; p.S190R; 2:134318736-134318736	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.570T>G; p.S190R; 2:134318736-134318736	skin	malignant_melanoma	Substitution - Missense
c.708G>A; p.R236R; 2:134338321-134338321	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.286C>T; p.R96C; 2:134270430-134270430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2032A>G; p.K678E; 2:134448653-134448653	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.824G>A; p.G275E; 2:134341606-134341606	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.577G>A; p.E193K; 2:134336220-134336220	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.445C>T; p.P149S; 2:134317567-134317567	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1723C>T; p.H575Y; 2:134422848-134422848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.797A>C; p.K266T; 2:134338410-134338410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1723C>T; p.H575Y; 2:134422848-134422848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1723C>T; p.H575Y; 2:134422848-134422848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1723C>T; p.H575Y; 2:134422848-134422848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1225C>T; p.Q409*; 2:134349917-134349917	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1723C>T; p.H575Y; 2:134422848-134422848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1723C>T; p.H575Y; 2:134422848-134422848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1063G>A; p.G355R; 2:134345015-134345015	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590C>G; p.P197R; 2:134336233-134336233	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1753G>C; p.E585Q; 2:134422878-134422878	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1255C>A; p.P419T; 2:134362283-134362283	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.108G>A; p.Q36Q; 2:134254511-134254511	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.721C>T; p.R241W; 2:134338334-134338334	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.85C>T; p.L29F; 2:134254488-134254488	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.85C>T; p.L29F; 2:134254488-134254488	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.85C>T; p.L29F; 2:134254488-134254488	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.187G>A; p.E63K; 2:134254590-134254590	liver	carcinoma	Substitution - Missense
c.187G>A; p.E63K; 2:134254590-134254590	liver	carcinoma	Substitution - Missense
c.685A>G; p.M229V; 2:134338298-134338298	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1004G>A; p.R335Q; 2:134344956-134344956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1119G>A; p.M373I; 2:134349811-134349811	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.764C>T; p.S255F; 2:134338377-134338377	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1080G>C; p.K360N; 2:134345032-134345032	breast	carcinoma	Substitution - Missense
c.220G>A; p.A74T; 2:134254623-134254623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.220G>A; p.A74T; 2:134254623-134254623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1181C>T; p.S394L; 2:134349873-134349873	breast	carcinoma	Substitution - Missense
c.1174G>A; p.A392T; 2:134349866-134349866	liver	carcinoma	Substitution - Missense
c.1688A>G; p.Q563R; 2:134422813-134422813	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.454G>A; p.G152S; 2:134317576-134317576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1212G>T; p.W404C; 2:134349904-134349904	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1688A>G; p.Q563R; 2:134422813-134422813	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.163A>C; p.K55Q; 2:134254566-134254566	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2169C>T; p.V723V; 2:134448790-134448790	skin	malignant_melanoma	Substitution - coding silent
c.1487T>A; p.I496N; 2:134403094-134403094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1249C>A; p.H417N; 2:134362277-134362277	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.131C>T; p.S44F; 2:134254534-134254534	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2027+9C>T; p.?; 2:134441924-134441924	pancreas	carcinoma	Unknown
c.198G>A; p.R66R; 2:134254601-134254601	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.814G>T; p.V272F; 2:134341596-134341596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1506G>A; p.L502L; 2:134403113-134403113	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1831G>T; p.G611W; 2:134428401-134428401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1852G>A; p.A618T; 2:134428422-134428422	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.259G>C; p.A87P; 2:134270403-134270403	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1819T>A; p.F607I; 2:134428389-134428389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4G>A; p.A2T; 2:134254407-134254407	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.224G>T; p.G75V; 2:134254627-134254627	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1812A>G; p.P604P; 2:134428382-134428382	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.302A>T; p.E101V; 2:134270446-134270446	kidney	other; neoplasm	Substitution - Missense
c.1041G>C; p.E347D; 2:134344993-134344993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.741C>T; p.D247D; 2:134338354-134338354	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.302A>T; p.E101V; 2:134270446-134270446	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1300T>A; p.S434T; 2:134362328-134362328	skin	malignant_melanoma	Substitution - Missense
c.237T>G; p.A79A; 2:134254640-134254640	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.46delT; p.F17fs*3; 2:134254449-134254449	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.849T>G; p.F283L; 2:134341631-134341631	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 2:134254405-134254405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1832G>C; p.G611A; 2:134428402-134428402	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2094G>A; p.K698K; 2:134448715-134448715	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1471G>C; p.V491L; 2:134403078-134403078	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.84G>A; p.M28I; 2:134254487-134254487	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1455G>T; p.K485N; 2:134403062-134403062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1804T>A; p.Y602N; 2:134428374-134428374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.437T>C; p.V146A; 2:134317559-134317559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1605G>A; p.L535L; 2:134412943-134412943	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039G>C; p.E347Q; 2:134344991-134344991	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.567C>T; p.L189L; 2:134318733-134318733	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.567C>T; p.L189L; 2:134318733-134318733	skin	malignant_melanoma	Substitution - coding silent
c.176A>T; p.K59M; 2:134254579-134254579	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2145C>T; p.G715G; 2:134448766-134448766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.44G>A; p.G15D; 2:134254447-134254447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2145C>T; p.G715G; 2:134448766-134448766	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1858A>G; p.I620V; 2:134428428-134428428	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1638A>C; p.K546N; 2:134412976-134412976	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.536A>T; p.D179V; 2:134318702-134318702	skin	malignant_melanoma	Substitution - Missense
c.655C>T; p.R219C; 2:134338268-134338268	skin	malignant_melanoma	Substitution - Missense
c.1358G>A; p.G453D; 2:134362386-134362386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.82A>C; p.M28L; 2:134254485-134254485	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.920C>T; p.S307F; 2:134341702-134341702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1711A>T; p.I571F; 2:134422836-134422836	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2007C>T; p.N669N; 2:134441895-134441895	thyroid	other; neoplasm	Substitution - coding silent
c.512C>T; p.P171L; 2:134318678-134318678	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1648T>C; p.F550L; 2:134412986-134412986	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.120T>G; p.P40P; 2:134254523-134254523	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.634C>T; p.H212Y; 2:134336277-134336277	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1892T>C; p.M631T; 2:134441780-134441780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.110G>A; p.R37Q; 2:134254513-134254513	breast	carcinoma	Substitution - Missense
c.110G>A; p.R37Q; 2:134254513-134254513	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1809G>T; p.M603I; 2:134428379-134428379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.886G>A; p.G296S; 2:134341668-134341668	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.484T>A; p.W162R; 2:134318650-134318650	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1098C>T; p.S366S; 2:134345050-134345050	skin; leg	malignant_melanoma	Substitution - coding silent
c.1098C>T; p.S366S; 2:134345050-134345050	skin; leg	malignant_melanoma	Substitution - coding silent
c.573G>C; p.E191D; 2:134318739-134318739	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1175C>T; p.A392V; 2:134349867-134349867	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.262G>T; p.V88L; 2:134270406-134270406	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>T; p.S379L; 2:134349828-134349828	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.43G>A; p.G15S; 2:134254446-134254446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1619A>G; p.N540S; 2:134412957-134412957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2108T>A; p.V703E; 2:134448729-134448729	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.34C>G; p.Q12E; 2:134254437-134254437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>T; p.R335*; 2:134344955-134344955	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1003C>T; p.R335*; 2:134344955-134344955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.34C>T; p.Q12*; 2:134254437-134254437	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.287G>A; p.R96H; 2:134270431-134270431	pancreas	other; adenoma	Substitution - Missense
c.35A>G; p.Q12R; 2:134254438-134254438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.313G>C; p.D105H; 2:134270457-134270457	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.571G>C; p.E191Q; 2:134318737-134318737	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.287G>A; p.R96H; 2:134270431-134270431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.313G>C; p.D105H; 2:134270457-134270457	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1898C>A; p.P633Q; 2:134441786-134441786	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1898C>A; p.P633Q; 2:134441786-134441786	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1636delA; p.N547fs*11; 2:134412974-134412974	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1653C>A; p.F551L; 2:134412991-134412991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1575_1576GG>AA; p.E526K; 2:134412913-134412914	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2180G>T; p.R727L; 2:134448801-134448801	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.742G>A; p.A248T; 2:134338355-134338355	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2035G>T; p.V679L; 2:134448656-134448656	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1717C>T; p.R573W; 2:134422842-134422842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1153G>A; p.E385K; 2:134349845-134349845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1153G>A; p.E385K; 2:134349845-134349845	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1153G>A; p.E385K; 2:134349845-134349845	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1746C>G; p.N582K; 2:134422871-134422871	central_nervous_system; brain	glioma	Substitution - Missense
c.2093A>C; p.K698T; 2:134448714-134448714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1657G>T; p.G553C; 2:134412995-134412995	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.249G>T; p.K83N; 2:134270393-134270393	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.681T>C; p.S227S; 2:134338294-134338294	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1513C>T; p.L505F; 2:134403120-134403120	skin	malignant_melanoma	Substitution - Missense
c.406+2T>G; p.?; 2:134270552-134270552	breast	carcinoma	Unknown
c.65G>A; p.G22D; 2:134254468-134254468	skin; arm	malignant_melanoma	Substitution - Missense
c.406+2T>G; p.?; 2:134270552-134270552	meninges	meningioma; haemangiopericytic	Unknown
c.1271T>A; p.L424Q; 2:134362299-134362299	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1946G>T; p.C649F; 2:134441834-134441834	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.519C>T; p.Y173Y; 2:134318685-134318685	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.446C>T; p.P149L; 2:134317568-134317568	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43G>C; p.G15R; 2:134254446-134254446	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.136C>A; p.L46M; 2:134254539-134254539	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1206delA; p.K403fs*4; 2:134349898-134349898	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.840A>G; p.E280E; 2:134341622-134341622	liver	carcinoma	Substitution - coding silent
c.99C>T; p.T33T; 2:134254502-134254502	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.140G>A; p.R47H; 2:134254543-134254543	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.675C>T; p.L225L; 2:134338288-134338288	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2061C>T; p.A687A; 2:134448682-134448682	breast	carcinoma	Substitution - coding silent
c.707G>C; p.R236P; 2:134338320-134338320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1774A>G; p.K592E; 2:134422899-134422899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1123C>T; p.R375*; 2:134349815-134349815	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.596T>C; p.L199S; 2:134336239-134336239	skin	malignant_melanoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation