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	2626
Symbol	GATA4
Synonymous	ASD2\|TACHD\|TOF\|VSD1
Full name	GATA binding protein 4
Gene description	GATA-binding factor 4\|transcription factor GATA-4
Cytoband	8p23.1-p22
Gene type	protein-coding
Synonymous	MIM:600576; HGNC:HGNC:4173; Ensembl:ENSG00000136574; HPRD:08994; Vega:OTTHUMG00000090800

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.770C>T; p.P257L; 8:11749072-11749072	skin	malignant_melanoma	Substitution - Missense
c.868C>T; p.P290S; 8:11750195-11750195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.698C>T; p.T233M; 8:11749000-11749000	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.698C>T; p.T233M; 8:11749000-11749000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.698C>T; p.T233M; 8:11749000-11749000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1097C>T; p.T366M; 8:11757034-11757034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1064C>G; p.T355S; 8:11757001-11757001	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1064C>G; p.T355S; 8:11757001-11757001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.628G>A; p.D210N; 8:11748930-11748930	skin	malignant_melanoma	Substitution - Missense
c.875G>T; p.C292F; 8:11750202-11750202	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1326G>A; p.A442A; 8:11758472-11758472	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1238C>T; p.P413L; 8:11758384-11758384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1163C>T; p.A388V; 8:11758309-11758309	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1163C>T; p.A388V; 8:11758309-11758309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.84C>T; p.H28H; 8:11708396-11708396	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.840G>C; p.T280T; 8:11750167-11750167	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.79A>G; p.M27V; 8:11708391-11708391	pancreas	carcinoma	Substitution - Missense
c.79A>G; p.M27V; 8:11708391-11708391	pancreas	carcinoma	Substitution - Missense
c.691G>T; p.D231Y; 8:11748993-11748993	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.17C>T; p.A6V; 8:11708329-11708329	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.796C>T; p.R266*; 8:11750123-11750123	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.796C>T; p.R266*; 8:11750123-11750123	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1232C>T; p.A411V; 8:11758378-11758378	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1232C>T; p.A411V; 8:11758378-11758378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1129A>G; p.S377G; 8:11757066-11757066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.810C>G; p.S270S; 8:11750137-11750137	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1021C>T; p.P341S; 8:11756958-11756958	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1115C>T; p.S372F; 8:11757052-11757052	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.960G>A; p.R320R; 8:11755096-11755096	skin	malignant_melanoma	Substitution - coding silent
c.661G>T; p.G221W; 8:11748963-11748963	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.G242S; 8:11749026-11749026	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.858G>A; p.A286A; 8:11750185-11750185	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.888C>G; p.G296G; 8:11750215-11750215	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.688C>T; p.R230*; 8:11748990-11748990	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.794G>A; p.R265H; 8:11750121-11750121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.821G>T; p.C274F; 8:11750148-11750148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1000C>T; p.P334S; 8:11756937-11756937	skin	malignant_melanoma	Substitution - Missense
c.914C>G; p.P305R; 8:11755050-11755050	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.627C>T; p.D209D; 8:11748929-11748929	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1084C>T; p.R362C; 8:11757021-11757021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.933G>A; p.R311R; 8:11755069-11755069	skin	malignant_melanoma	Substitution - coding silent
c.584G>A; p.R195Q; 8:11708896-11708896	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1165A>C; p.M389L; 8:11758311-11758311	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1233G>A; p.A411A; 8:11758379-11758379	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.828C>A; p.T276T; 8:11750155-11750155	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1177G>A; p.G393R; 8:11758323-11758323	skin	malignant_melanoma	Substitution - Missense
c.1273G>A; p.D425N; 8:11758419-11758419	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.919C>T; p.P307S; 8:11755055-11755055	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.646G>C; p.E216Q; 8:11748948-11748948	breast	carcinoma	Substitution - Missense
c.1293C>A; p.V431V; 8:11758439-11758439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.787G>A; p.A263T; 8:11750114-11750114	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1172G>A; p.G391D; 8:11758318-11758318	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.758C>T; p.P253L; 8:11749060-11749060	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.188C>T; p.S63F; 8:11708500-11708500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1312G>A; p.D438N; 8:11758458-11758458	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.810C>T; p.S270S; 8:11750137-11750137	skin	malignant_melanoma	Substitution - coding silent
c.1097C>A; p.T366K; 8:11757034-11757034	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1142C>T; p.S381F; 8:11757079-11757079	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.930G>A; p.M310I; 8:11755066-11755066	breast	carcinoma	Substitution - Missense
c.786C>T; p.S262S; 8:11750113-11750113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.776G>A; p.R259H; 8:11749078-11749078	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1032C>T; p.S344S; 8:11756969-11756969	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1326G>T; p.A442A; 8:11758472-11758472	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1032C>T; p.S344S; 8:11756969-11756969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1239C>A; p.P413P; 8:11758385-11758385	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1257G>A; p.Q419Q; 8:11758403-11758403	urinary_tract; bladder	carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation