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	2583
Symbol	B4GALNT1
Synonymous	GALGT\|GALNACT\|GalNAc-T\|SPG26
Full name	beta-1,4-N-acetyl-galactosaminyl transferase 1
Gene description	GD2 synthase, GM2 synthase\|GM2/GD2 synthase\|UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1\|UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)\|beta-1,
Cytoband	12q13.3
Gene type	protein-coding
Synonymous	MIM:601873; HGNC:HGNC:4117; Ensembl:ENSG00000135454; HPRD:03525; Vega:OTTHUMG00000170190

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1411C>T; p.L471F; 12:57626935-57626935	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.704C>A; p.A235E; 12:57630160-57630160	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.941G>T; p.S314I; 12:57628774-57628774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1355A>C; p.D452A; 12:57627647-57627647	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.749C>T; p.T250I; 12:57629110-57629110	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.466C>T; p.P156S; 12:57631004-57631004	skin	malignant_melanoma	Substitution - Missense
c.814C>T; p.Q272*; 12:57628901-57628901	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1486G>C; p.A496P; 12:57626860-57626860	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.372C>A; p.A124A; 12:57631211-57631211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1097G>A; p.R366Q; 12:57628168-57628168	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1302C>T; p.G434G; 12:57627700-57627700	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.524T>C; p.V175A; 12:57630485-57630485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.553_554GG>AA; p.G185N; 12:57630310-57630311	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1506C>T; p.A502A; 12:57626840-57626840	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.862C>A; p.R288S; 12:57628853-57628853	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.723C>T; p.S241S; 12:57629136-57629136	skin	malignant_melanoma	Substitution - coding silent
c.1555C>T; p.R519W; 12:57626791-57626791	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.263delG; p.G88fs*24; 12:57631320-57631320	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.263delG; p.G88fs*24; 12:57631320-57631320	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.263delG; p.G88fs*24; 12:57631320-57631320	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.263delG; p.G88fs*24; 12:57631320-57631320	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.263delG; p.G88fs*24; 12:57631320-57631320	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.263delG; p.G88fs*24; 12:57631320-57631320	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.263delG; p.G88fs*24; 12:57631320-57631320	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.238T>A; p.C80S; 12:57631345-57631345	liver	carcinoma	Substitution - Missense
c.441C>G; p.Y147*; 12:57631029-57631029	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1385-1G>T; p.?; 12:57626962-57626962	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1518C>A; p.Y506*; 12:57626828-57626828	ovary	other; neoplasm	Substitution - Nonsense
c.94G>A; p.G32S; 12:57632039-57632039	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.107C>T; p.P36L; 12:57632026-57632026	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.415G>T; p.A139S; 12:57631055-57631055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.A363V; 12:57628177-57628177	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.A363V; 12:57628177-57628177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1088C>T; p.A363V; 12:57628177-57628177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1130C>T; p.T377M; 12:57628135-57628135	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.275C>T; p.P92L; 12:57631308-57631308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1264G>A; p.E422K; 12:57627738-57627738	skin	malignant_melanoma	Substitution - Missense
c.715C>T; p.R239W; 12:57629144-57629144	pancreas	carcinoma	Substitution - Missense
c.715C>T; p.R239W; 12:57629144-57629144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.715C>T; p.R239W; 12:57629144-57629144	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.491-5C>T; p.?; 12:57630523-57630523	ovary	other; neoplasm	Unknown
c.931G>T; p.A311S; 12:57628784-57628784	liver	carcinoma	Substitution - Missense
c.755G>A; p.R252H; 12:57629104-57629104	pancreas	carcinoma	Substitution - Missense
c.291C>T; p.V97V; 12:57631292-57631292	skin	malignant_melanoma	Substitution - coding silent
c.1447C>T; p.H483Y; 12:57626899-57626899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.627C>T; p.V209V; 12:57630237-57630237	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.885C>G; p.L295L; 12:57628830-57628830	skin	malignant_melanoma	Substitution - coding silent
c.46G>A; p.A16T; 12:57632087-57632087	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1028C>T; p.A343V; 12:57628237-57628237	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.344C>T; p.S115F; 12:57631239-57631239	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1019G>A; p.R340Q; 12:57628246-57628246	liver	carcinoma	Substitution - Missense
c.462T>A; p.V154V; 12:57631008-57631008	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.564C>T; p.D188D; 12:57630300-57630300	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.564C>T; p.D188D; 12:57630300-57630300	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.696C>A; p.T232T; 12:57630168-57630168	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.219-2A>G; p.?; 12:57631366-57631366	liver	carcinoma	Unknown
c.13C>T; p.R5C; 12:57632120-57632120	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.13C>T; p.R5C; 12:57632120-57632120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.242G>A; p.S81N; 12:57631341-57631341	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1414C>G; p.R472G; 12:57626932-57626932	liver	carcinoma	Substitution - Missense
c.73G>A; p.A25T; 12:57632060-57632060	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.790C>T; p.P264S; 12:57629069-57629069	liver	carcinoma	Substitution - Missense
c.790C>T; p.P264S; 12:57629069-57629069	liver	carcinoma	Substitution - Missense
c.1414C>G; p.R472G; 12:57626932-57626932	liver	carcinoma	Substitution - Missense
c.1231A>G; p.N411D; 12:57627771-57627771	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.988A>G; p.M330V; 12:57628727-57628727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1068C>T; p.D356D; 12:57628197-57628197	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.666G>T; p.L222L; 12:57630198-57630198	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.666G>T; p.L222L; 12:57630198-57630198	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1221A>C; p.P407P; 12:57627781-57627781	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1549A>G; p.K517E; 12:57626797-57626797	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.692A>T; p.Q231L; 12:57630172-57630172	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.263_264insG; p.L89fs*13; 12:57631319-57631320	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.263_264insG; p.L89fs*13; 12:57631319-57631320	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.263_264insG; p.L89fs*13; 12:57631319-57631320	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.263_264insG; p.L89fs*13; 12:57631319-57631320	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.263_264insG; p.L89fs*13; 12:57631319-57631320	breast	carcinoma	Insertion - Frameshift
c.263_264insG; p.L89fs*13; 12:57631319-57631320	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.263_264insG; p.L89fs*13; 12:57631319-57631320	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.689A>G; p.Y230C; 12:57630175-57630175	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1086G>T; p.T362T; 12:57628179-57628179	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.877C>T; p.R293W; 12:57628838-57628838	skin	malignant_melanoma	Substitution - Missense
c.146C>T; p.P49L; 12:57631987-57631987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.392C>T; p.S131F; 12:57631078-57631078	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.409C>T; p.L137F; 12:57631061-57631061	skin	malignant_melanoma	Substitution - Missense
c.1155G>A; p.A385A; 12:57627847-57627847	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1503C>T; p.Y501Y; 12:57626843-57626843	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.103C>G; p.L35V; 12:57632030-57632030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.103C>G; p.L35V; 12:57632030-57632030	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.956G>A; p.R319H; 12:57628759-57628759	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>C; p.R397P; 12:57627812-57627812	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.862C>T; p.R288C; 12:57628853-57628853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.366C>G; p.F122L; 12:57631217-57631217	breast	carcinoma	Substitution - Missense
c.1461G>A; p.L487L; 12:57626885-57626885	skin	malignant_melanoma	Substitution - coding silent
c.264_265insG; p.L89fs*13; 12:57631318-57631319	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.264_265insG; p.L89fs*13; 12:57631318-57631319	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.639G>A; p.L213L; 12:57630225-57630225	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.966C>T; p.G322G; 12:57628749-57628749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.828C>T; p.S276S; 12:57628887-57628887	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.135_136CC>TT; p.P46S; 12:57631997-57631998	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.924G>A; p.V308V; 12:57628791-57628791	breast	carcinoma	Substitution - coding silent
c.623T>G; p.L208R; 12:57630241-57630241	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.66C>T; p.L22L; 12:57632067-57632067	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - coding silent
c.66C>T; p.L22L; 12:57632067-57632067	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.832C>T; p.L278L; 12:57628883-57628883	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406G>C; p.G469A; 12:57626940-57626940	kidney	other; neoplasm	Substitution - Missense
c.1489G>A; p.G497R; 12:57626857-57626857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.828C>A; p.S276R; 12:57628887-57628887	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.398C>T; p.A133V; 12:57631072-57631072	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.88G>A; p.A30T; 12:57632045-57632045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1011C>T; p.F337F; 12:57628254-57628254	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.915G>A; p.T305T; 12:57628800-57628800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.915G>A; p.T305T; 12:57628800-57628800	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1555C>A; p.R519R; 12:57626791-57626791	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188T>C; p.Y396Y; 12:57627814-57627814	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.805C>A; p.Q269K; 12:57629054-57629054	thyroid	other; neoplasm	Substitution - Missense
c.1492G>A; p.A498T; 12:57626854-57626854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.775_776CC>TT; p.P259F; 12:57629083-57629084	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.312G>T; p.K104N; 12:57631271-57631271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1202G>T; p.S401I; 12:57627800-57627800	skin	malignant_melanoma	Substitution - Missense
c.649A>G; p.N217D; 12:57630215-57630215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.219-2A>T; p.?; 12:57631366-57631366	kidney	other; neoplasm	Unknown
c.219-2A>T; p.?; 12:57631366-57631366	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1237C>T; p.L413F; 12:57627765-57627765	skin	malignant_melanoma	Substitution - Missense
c.683G>A; p.R228Q; 12:57630181-57630181	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.265C>A; p.L89I; 12:57631318-57631318	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.601G>T; p.E201*; 12:57630263-57630263	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1435G>A; p.V479I; 12:57626911-57626911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation