Entrez Gene

Basic Information
Gene ID	79695
Name	GALNT12
Synonymous	polypeptide N-acetylgalactosaminyltransferase 12;GALNT12;polypeptide N-acetylgalactosaminyltransferase 12
Definition	UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12\|UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)\|colorectal cancer, susceptibility to 1\|polypeptide GalNAc transferase 12\|pp-GaNTase 12\|protein-UDP
Position	9q22.33
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.775G>A; p.V259M; 9:98831815-98831815	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1459-1G>C; p.?; 9:98845976-98845976	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1188C>T; p.Y396Y; 9:98837124-98837124	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.871C>T; p.P291S; 9:98831911-98831911	skin	malignant_melanoma	Substitution - Missense
c.374G>A; p.C125Y; 9:98823258-98823258	skin	malignant_melanoma	Substitution - Missense
c.573T>A; p.L191L; 9:98826783-98826783	skin	malignant_melanoma	Substitution - coding silent
c.1015A>C; p.N339H; 9:98835346-98835346	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1168G>T; p.E390*; 9:98837104-98837104	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1168G>T; p.E390*; 9:98837104-98837104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1015A>C; p.N339H; 9:98835346-98835346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1549A>G; p.I517V; 9:98846067-98846067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.795C>T; p.F265F; 9:98831835-98831835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.795C>T; p.F265F; 9:98831835-98831835	breast	carcinoma	Substitution - coding silent
c.629G>A; p.R210Q; 9:98826839-98826839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.601C>A; p.R201S; 9:98826811-98826811	thyroid	carcinoma	Substitution - Missense
c.381G>A; p.E127E; 9:98823265-98823265	skin	malignant_melanoma	Substitution - coding silent
c.448T>C; p.S150P; 9:98823332-98823332	skin	malignant_melanoma	Substitution - Missense
c.591G>A; p.V197V; 9:98826801-98826801	pancreas	carcinoma	Substitution - coding silent
c.1028C>T; p.S343F; 9:98835359-98835359	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1028C>T; p.S343F; 9:98835359-98835359	skin	malignant_melanoma	Substitution - Missense
c.331A>G; p.I111V; 9:98808029-98808029	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1225G>A; p.D409N; 9:98840014-98840014	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1431C>T; p.Y477Y; 9:98844182-98844182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.539G>T; p.R180I; 9:98823423-98823423	skin	malignant_melanoma	Substitution - Missense
c.539G>T; p.R180I; 9:98823423-98823423	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.457C>G; p.L153V; 9:98823341-98823341	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1563C>A; p.C521*; 9:98846081-98846081	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.780C>T; p.I260I; 9:98831820-98831820	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1563C>A; p.C521*; 9:98846081-98846081	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.867A>T; p.T289T; 9:98831907-98831907	breast	carcinoma	Substitution - coding silent
c.1528G>T; p.E510*; 9:98846046-98846046	lung	carcinoma; large_cell_carcinoma	Substitution - Nonsense
c.1010G>A; p.G337E; 9:98835341-98835341	skin	malignant_melanoma	Substitution - Missense
c.1112A>G; p.Y371C; 9:98837048-98837048	breast	carcinoma	Substitution - Missense
c.837C>T; p.F279F; 9:98831877-98831877	skin	malignant_melanoma	Substitution - coding silent
c.1223G>T; p.G408V; 9:98840012-98840012	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1465G>A; p.E489K; 9:98845983-98845983	skin	malignant_melanoma	Substitution - Missense
c.1060G>A; p.E354K; 9:98836996-98836996	skin	malignant_melanoma	Substitution - Missense
c.461G>A; p.R154Q; 9:98823345-98823345	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.828C>T; p.I276I; 9:98831868-98831868	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.603C>T; p.R201R; 9:98826813-98826813	breast	carcinoma	Substitution - coding silent
c.880G>C; p.E294Q; 9:98831920-98831920	liver	carcinoma	Substitution - Missense
c.880G>C; p.E294Q; 9:98831920-98831920	liver	carcinoma	Substitution - Missense
c.1344G>A; p.M448I; 9:98840133-98840133	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1156G>A; p.V386I; 9:98837092-98837092	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1677C>T; p.F559F; 9:98849023-98849023	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1677C>T; p.F559F; 9:98849023-98849023	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1501C>A; p.H501N; 9:98846019-98846019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>T; p.R497C; 9:98846007-98846007	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.458T>C; p.L153P; 9:98823342-98823342	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.458T>C; p.L153P; 9:98823342-98823342	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1624G>A; p.E542K; 9:98848970-98848970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.826A>C; p.I276L; 9:98831866-98831866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1345-1G>A; p.?; 9:98844095-98844095	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1540G>A; p.D514N; 9:98846058-98846058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1125G>A; p.K375K; 9:98837061-98837061	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.459T>C; p.L153L; 9:98823343-98823343	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.812C>T; p.S271F; 9:98831852-98831852	skin	malignant_melanoma	Substitution - Missense
c.1621C>T; p.H541Y; 9:98848967-98848967	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.902C>T; p.P301L; 9:98831942-98831942	skin	malignant_melanoma	Substitution - Missense
c.654G>T; p.A218A; 9:98826864-98826864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1736G>A; p.R579H; 9:98849082-98849082	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>C; p.R120P; 9:98808057-98808057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.359G>C; p.R120P; 9:98808057-98808057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>A; p.E341K; 9:98835352-98835352	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.457C>T; p.L153F; 9:98823341-98823341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.781G>A; p.D261N; 9:98831821-98831821	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1344G>T; p.M448I; 9:98840133-98840133	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.664G>A; p.D222N; 9:98826874-98826874	skin	malignant_melanoma	Substitution - Missense
c.413C>T; p.T138I; 9:98823297-98823297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1653G>A; p.A551A; 9:98848999-98848999	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.433T>A; p.Y145N; 9:98823317-98823317	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.576G>A; p.S192S; 9:98826786-98826786	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1207C>A; p.R403S; 9:98837143-98837143	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1591T>G; p.F531V; 9:98846109-98846109	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.489C>T; p.S163S; 9:98823373-98823373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.832G>A; p.G278S; 9:98831872-98831872	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1069C>T; p.P357S; 9:98837005-98837005	skin	malignant_melanoma	Substitution - Missense
c.1048G>C; p.G350R; 9:98836984-98836984	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1640G>A; p.C547Y; 9:98848986-98848986	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.372-7T>A; p.?; 9:98823249-98823249	stomach	carcinoma; adenocarcinoma	Unknown
c.1293T>G; p.T431T; 9:98840082-98840082	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.813C>T; p.S271S; 9:98831853-98831853	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1020C>T; p.L340L; 9:98835351-98835351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1571C>A; p.T524N; 9:98846089-98846089	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.936T>G; p.G312G; 9:98835267-98835267	breast	carcinoma	Substitution - coding silent
c.1621C>A; p.H541N; 9:98848967-98848967	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.945T>C; p.F315F; 9:98835276-98835276	thyroid	carcinoma	Substitution - coding silent
c.732-1G>T; p.?; 9:98831771-98831771	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.364A>G; p.N122D; 9:98808062-98808062	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1564G>A; p.E522K; 9:98846082-98846082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.586A>C; p.K196Q; 9:98826796-98826796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.446G>A; p.W149*; 9:98823330-98823330	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.703G>A; p.E235K; 9:98826913-98826913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.443C>T; p.A148V; 9:98823327-98823327	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1634A>C; p.K545T; 9:98848980-98848980	breast	carcinoma	Substitution - Missense
c.1707G>C; p.S569S; 9:98849053-98849053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.556C>T; p.R186C; 9:98826766-98826766	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.819G>A; p.E273E; 9:98831859-98831859	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]