Entrez Gene

Basic Information
Gene ID	51809
Name	GALNT7
Synonymous	polypeptide N-acetylgalactosaminyltransferase 7;GALNT7;polypeptide N-acetylgalactosaminyltransferase 7
Definition	N-acetylgalactosaminyltransferase 7\|UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7\|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)\|polypeptide GalNAc transferase 7\|pp-GaNTase 7\|protein-UDP acetylg
Position	4q31.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.851G>A; p.R284Q; 4:173295492-173295492	skin	malignant_melanoma	Substitution - Missense
c.851G>A; p.R284Q; 4:173295492-173295492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.384C>A; p.R128R; 4:173248237-173248237	liver	carcinoma	Substitution - coding silent
c.739G>A; p.D247N; 4:173292259-173292259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.384C>A; p.R128R; 4:173248237-173248237	liver	carcinoma	Substitution - coding silent
c.739G>A; p.D247N; 4:173292259-173292259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.739G>A; p.D247N; 4:173292259-173292259	skin	malignant_melanoma	Substitution - Missense
c.384C>A; p.R128R; 4:173248237-173248237	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.979G>A; p.V327M; 4:173298128-173298128	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1077T>C; p.S359S; 4:173298226-173298226	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.576A>G; p.L192L; 4:173248429-173248429	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.725T>C; p.I242T; 4:173292245-173292245	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.469G>T; p.V157F; 4:173248322-173248322	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.335A>G; p.Y112C; 4:173248188-173248188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>T; p.A91S; 4:173248124-173248124	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.421G>C; p.E141Q; 4:173248274-173248274	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.V469M; 4:173313973-173313973	liver	carcinoma	Substitution - Missense
c.1405G>A; p.V469M; 4:173313973-173313973	liver	carcinoma	Substitution - Missense
c.766G>T; p.E256*; 4:173295407-173295407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1621G>A; p.E541K; 4:173317646-173317646	thyroid	carcinoma	Substitution - Missense
c.1621G>A; p.E541K; 4:173317646-173317646	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.946G>T; p.A316S; 4:173295824-173295824	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1882C>T; p.R628C; 4:173321625-173321625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1882C>T; p.R628C; 4:173321625-173321625	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1081C>A; p.L361I; 4:173298230-173298230	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.411C>T; p.P137P; 4:173248264-173248264	skin	malignant_melanoma	Substitution - coding silent
c.1300C>T; p.P434S; 4:173304029-173304029	skin	malignant_melanoma	Substitution - Missense
c.626C>T; p.S209L; 4:173292146-173292146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.337C>G; p.L113V; 4:173248190-173248190	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1148+1G>A; p.?; 4:173298298-173298298	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.794G>A; p.W265*; 4:173295435-173295435	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1710T>G; p.L570L; 4:173318433-173318433	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.817C>T; p.R273*; 4:173295458-173295458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1088A>G; p.K363R; 4:173298237-173298237	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.895T>C; p.Y299H; 4:173295773-173295773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1168G>A; p.G390R; 4:173302066-173302066	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.593A>T; p.K198M; 4:173292113-173292113	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1639G>T; p.D547Y; 4:173317664-173317664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1142C>T; p.P381L; 4:173298291-173298291	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1531A>C; p.K511Q; 4:173314099-173314099	liver	carcinoma	Substitution - Missense
c.758A>G; p.H253R; 4:173295399-173295399	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1026C>T; p.P342P; 4:173298175-173298175	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1940delA; p.K648fs*4; 4:173321683-173321683	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1504C>T; p.R502*; 4:173314072-173314072	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1504C>T; p.R502*; 4:173314072-173314072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1968T>G; p.S656R; 4:173321711-173321711	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1140A>G; p.E380E; 4:173298289-173298289	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1197C>A; p.F399L; 4:173302095-173302095	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.949C>A; p.P317T; 4:173295827-173295827	liver	carcinoma	Substitution - Missense
c.949C>A; p.P317T; 4:173295827-173295827	liver	carcinoma	Substitution - Missense
c.1934C>T; p.T645M; 4:173321677-173321677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1379C>T; p.P460L; 4:173304108-173304108	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.244T>A; p.L82I; 4:173248097-173248097	breast	carcinoma	Substitution - Missense
c.382C>T; p.R128C; 4:173248235-173248235	skin	malignant_melanoma	Substitution - Missense
c.382C>T; p.R128C; 4:173248235-173248235	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1478G>A; p.G493E; 4:173314046-173314046	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.565G>A; p.V189I; 4:173248418-173248418	liver	carcinoma	Substitution - Missense
c.18G>A; p.G6G; 4:173168853-173168853	thyroid	other; neoplasm	Substitution - coding silent
c.565G>A; p.V189I; 4:173248418-173248418	liver	carcinoma	Substitution - Missense
c.18G>A; p.G6G; 4:173168853-173168853	thyroid	other; neoplasm	Substitution - coding silent
c.18G>A; p.G6G; 4:173168853-173168853	thyroid	other; neoplasm	Substitution - coding silent
c.18G>A; p.G6G; 4:173168853-173168853	thyroid	other; neoplasm	Substitution - coding silent
c.24C>T; p.I8I; 4:173168859-173168859	pancreas	carcinoma	Substitution - coding silent
c.984G>A; p.P328P; 4:173298133-173298133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.15T>A; p.I5I; 4:173168850-173168850	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1168G>C; p.G390R; 4:173302066-173302066	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1373C>G; p.S458C; 4:173304102-173304102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1341G>A; p.W447*; 4:173304070-173304070	breast	carcinoma	Substitution - Nonsense
c.1206G>T; p.L402F; 4:173302104-173302104	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.251C>G; p.S84C; 4:173248104-173248104	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.815T>C; p.F272S; 4:173295456-173295456	skin	malignant_melanoma	Substitution - Missense
c.649A>G; p.N217D; 4:173292169-173292169	pancreas	carcinoma	Substitution - Missense
c.1143G>A; p.P381P; 4:173298292-173298292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.818G>A; p.R273Q; 4:173295459-173295459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.850C>T; p.R284*; 4:173295491-173295491	breast	carcinoma	Substitution - Nonsense
c.818G>A; p.R273Q; 4:173295459-173295459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.818G>A; p.R273Q; 4:173295459-173295459	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.548T>A; p.I183N; 4:173248401-173248401	breast	carcinoma	Substitution - Missense
c.174A>G; p.G58G; 4:173248027-173248027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.174A>G; p.G58G; 4:173248027-173248027	thyroid	carcinoma	Substitution - coding silent
c.1666T>G; p.F556V; 4:173317691-173317691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.352C>G; p.Q118E; 4:173248205-173248205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1492C>T; p.L498L; 4:173314060-173314060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1145A>G; p.Y382C; 4:173298294-173298294	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1170A>G; p.G390G; 4:173302068-173302068	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.191A>G; p.D64G; 4:173248044-173248044	liver	carcinoma	Substitution - Missense
c.577C>T; p.R193C; 4:173248430-173248430	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1104C>T; p.T368T; 4:173298253-173298253	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.577C>T; p.R193C; 4:173248430-173248430	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1239T>C; p.G413G; 4:173302137-173302137	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1239T>C; p.G413G; 4:173302137-173302137	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1529T>C; p.F510S; 4:173314097-173314097	skin	malignant_melanoma	Substitution - Missense
c.826A>G; p.R276G; 4:173295467-173295467	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.560G>A; p.R187H; 4:173248413-173248413	ovary	carcinoma	Substitution - Missense
c.256A>G; p.R86G; 4:173248109-173248109	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1946G>C; p.W649S; 4:173321689-173321689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1562T>C; p.I521T; 4:173314130-173314130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1252G>C; p.E418Q; 4:173302150-173302150	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1797C>T; p.H599H; 4:173318520-173318520	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.578G>A; p.R193H; 4:173248431-173248431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.231A>G; p.G77G; 4:173248084-173248084	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1546G>T; p.E516*; 4:173314114-173314114	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1020_1021insATACCCC; p.Q343fs*7; 4:173298169-173298170	breast	carcinoma	Insertion - Frameshift
c.1267-1G>A; p.?; 4:173303995-173303995	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.1432G>C; p.D478H; 4:173314000-173314000	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.648T>C; p.H216H; 4:173292168-173292168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1432G>C; p.D478H; 4:173314000-173314000	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1242T>C; p.G414G; 4:173302140-173302140	breast	carcinoma	Substitution - coding silent
c.1113G>T; p.E371D; 4:173298262-173298262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1438T>G; p.F480V; 4:173314006-173314006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]