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	2591
Symbol	GALNT3
Synonymous	GalNAc-T3\|HFTC\|HHS
Full name	polypeptide N-acetylgalactosaminyltransferase 3
Gene description	GalNAc transferase 3\|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3\|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)\|polypeptide GalNAc transferase 3\|polypeptide GalNAc-transferase T3\|pp-GaNTase 3\|
Cytoband	2q24-q31
Gene type	protein-coding
Synonymous	MIM:601756; HGNC:HGNC:4125; Ensembl:ENSG00000115339; HPRD:03453; Vega:OTTHUMG00000132157

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.284G>T; p.R95I; 2:165770417-165770417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506G>A; p.R169Q; 2:165770195-165770195	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.506G>A; p.R169Q; 2:165770195-165770195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1313G>A; p.R438H; 2:165757126-165757126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1313G>A; p.R438H; 2:165757126-165757126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1533C>T; p.S511S; 2:165754720-165754720	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.875C>T; p.A292V; 2:165759534-165759534	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.494G>T; p.G165V; 2:165770207-165770207	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1441C>T; p.Q481*; 2:165755015-165755015	breast	carcinoma	Substitution - Nonsense
c.585T>C; p.N195N; 2:165764987-165764987	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.585T>C; p.N195N; 2:165764987-165764987	liver	carcinoma	Substitution - coding silent
c.495A>G; p.G165G; 2:165770206-165770206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.495A>G; p.G165G; 2:165770206-165770206	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.312A>C; p.A104A; 2:165770389-165770389	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.838+1G>T; p.?; 2:165761904-165761904	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.766G>T; p.G256C; 2:165761977-165761977	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.78A>G; p.V26V; 2:165770623-165770623	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.78A>G; p.V26V; 2:165770623-165770623	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.834T>G; p.A278A; 2:165761909-165761909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.276T>C; p.A92A; 2:165770425-165770425	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.702delT; p.D234fs*3; 2:165762041-165762041	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1511T>C; p.V504A; 2:165754945-165754945	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.538C>T; p.R180C; 2:165765034-165765034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1252C>T; p.R418C; 2:165757187-165757187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1252C>T; p.R418C; 2:165757187-165757187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.625C>T; p.L209F; 2:165764947-165764947	prostate	carcinoma	Substitution - Missense
c.97G>T; p.V33F; 2:165770604-165770604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.625C>T; p.L209F; 2:165764947-165764947	prostate	carcinoma	Substitution - Missense
c.625C>T; p.L209F; 2:165764947-165764947	prostate	carcinoma	Substitution - Missense
c.903C>T; p.V301V; 2:165759506-165759506	skin	malignant_melanoma	Substitution - coding silent
c.1486G>T; p.V496L; 2:165754970-165754970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.583A>G; p.N195D; 2:165764989-165764989	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1580G>A; p.G527D; 2:165754673-165754673	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1580G>A; p.G527D; 2:165754673-165754673	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1580G>A; p.G527D; 2:165754673-165754673	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1193T>C; p.V398A; 2:165757246-165757246	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1193T>C; p.V398A; 2:165757246-165757246	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.459C>T; p.F153F; 2:165770242-165770242	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1657C>T; p.R553W; 2:165749864-165749864	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1717G>A; p.A573T; 2:165749804-165749804	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.A197V; 2:165764982-165764982	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.A197V; 2:165764982-165764982	ovary	other; neoplasm	Substitution - Missense
c.802G>A; p.A268T; 2:165761941-165761941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.639T>C; p.P213P; 2:165764933-165764933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.639T>C; p.P213P; 2:165764933-165764933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.639T>C; p.P213P; 2:165764933-165764933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1439T>A; p.L480H; 2:165755017-165755017	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1439T>A; p.L480H; 2:165755017-165755017	large_intestine; colon	carcinoma	Substitution - Missense
c.1439T>A; p.L480H; 2:165755017-165755017	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.638C>T; p.P213L; 2:165764934-165764934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1474A>G; p.I492V; 2:165754982-165754982	liver	carcinoma	Substitution - Missense
c.1864G>C; p.D622H; 2:165748819-165748819	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1831G>C; p.E611Q; 2:165748852-165748852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1798C>T; p.P600S; 2:165748885-165748885	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.950A>G; p.N317S; 2:165759459-165759459	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.625C>A; p.L209I; 2:165764947-165764947	breast	carcinoma	Substitution - Missense
c.1524C>T; p.Y508Y; 2:165754932-165754932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.406G>C; p.E136Q; 2:165770295-165770295	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.25A>T; p.K9*; 2:165770676-165770676	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1429A>C; p.K477Q; 2:165755027-165755027	skin	malignant_melanoma	Substitution - Missense
c.599C>T; p.T200M; 2:165764973-165764973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>C; p.D277H; 2:165761914-165761914	urinary_tract; bladder	carcinoma	Substitution - Missense
c.829G>C; p.D277H; 2:165761914-165761914	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.829G>C; p.D277H; 2:165761914-165761914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1515A>G; p.I505M; 2:165754941-165754941	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1224G>A; p.M408I; 2:165757215-165757215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1353T>G; p.F451L; 2:165757086-165757086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1798C>A; p.P600T; 2:165748885-165748885	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1773C>T; p.I591I; 2:165749748-165749748	skin	malignant_melanoma	Substitution - coding silent
c.123_126delAAGT; p.S42fs*14; 2:165770575-165770578	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1120T>C; p.F374L; 2:165758818-165758818	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.988A>C; p.N330H; 2:165759421-165759421	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1432C>T; p.H478Y; 2:165755024-165755024	breast	carcinoma	Substitution - Missense
c.533T>G; p.F178C; 2:165765039-165765039	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1324G>T; p.V442F; 2:165757115-165757115	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1296T>G; p.I432M; 2:165757143-165757143	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.410A>T; p.E137V; 2:165770291-165770291	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.41G>T; p.R14I; 2:165770660-165770660	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1103C>T; p.S368F; 2:165758835-165758835	skin	malignant_melanoma	Substitution - Missense
c.1114G>T; p.E372*; 2:165758824-165758824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1551T>C; p.C517C; 2:165754702-165754702	skin	malignant_melanoma	Substitution - coding silent
c.1544C>A; p.P515H; 2:165754709-165754709	skin	malignant_melanoma	Substitution - Missense
c.1580G>T; p.G527V; 2:165754673-165754673	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1436G>A; p.R479H; 2:165755020-165755020	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1658G>A; p.R553Q; 2:165749863-165749863	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.452A>T; p.N151I; 2:165770249-165770249	skin	malignant_melanoma	Substitution - Missense
c.325C>G; p.P109A; 2:165770376-165770376	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.589G>A; p.A197T; 2:165764983-165764983	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1902A>C; p.*634Y; 2:165748781-165748781	large_intestine; colon	carcinoma; adenocarcinoma	Nonstop extension
c.1329G>A; p.W443*; 2:165757110-165757110	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.539G>T; p.R180L; 2:165765033-165765033	liver	carcinoma	Substitution - Missense
c.711T>G; p.D237E; 2:165762032-165762032	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.949A>G; p.N317D; 2:165759460-165759460	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1312C>T; p.R438C; 2:165757127-165757127	skin; trunk	malignant_melanoma	Substitution - Missense
c.1312C>T; p.R438C; 2:165757127-165757127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.866C>T; p.P289L; 2:165759543-165759543	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1102T>C; p.S368P; 2:165758836-165758836	NS	malignant_melanoma	Substitution - Missense
c.951C>T; p.N317N; 2:165759458-165759458	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1490A>G; p.Y497C; 2:165754966-165754966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1689T>C; p.H563H; 2:165749832-165749832	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1283G>A; p.G428D; 2:165757156-165757156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1628A>G; p.Y543C; 2:165749893-165749893	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1428A>G; p.I476M; 2:165755028-165755028	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.428G>A; p.R143H; 2:165770273-165770273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>A; p.D332N; 2:165759415-165759415	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1878delA; p.K626fs*>8; 2:165748805-165748805	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.813A>T; p.E271D; 2:165761930-165761930	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.919G>A; p.A307T; 2:165759490-165759490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.816G>A; p.T272T; 2:165761927-165761927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1633G>A; p.E545K; 2:165749888-165749888	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.798A>G; p.T266T; 2:165761945-165761945	breast	carcinoma	Substitution - coding silent
c.637C>T; p.P213S; 2:165764935-165764935	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637C>T; p.P213S; 2:165764935-165764935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1722T>C; p.C574C; 2:165749799-165749799	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.950A>C; p.N317T; 2:165759459-165759459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1481C>T; p.P494L; 2:165754975-165754975	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation