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	7020
Symbol	TFAP2A
Synonymous	AP-2\|AP-2alpha\|AP2TF\|BOFS\|TFAP2
Full name	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
Gene description	AP-2 transcription factor\|AP2-alpha\|activating enhancer-binding protein 2-alpha\|activator protein 2\|transcription factor AP-2-alpha
Cytoband	6p24
Gene type	protein-coding
Synonymous	MIM:107580; HGNC:HGNC:11742; Ensembl:ENSG00000137203; HPRD:00128; Vega:OTTHUMG00000014235

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.352C>T; p.R118C; 6:10410011-10410011	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.197C>G; p.P66R; 6:10410166-10410166	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.948C>T; p.N316N; 6:10400507-10400507	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1260C>A; p.A420A; 6:10398453-10398453	skin	malignant_melanoma	Substitution - coding silent
c.458T>C; p.V153A; 6:10409905-10409905	breast	carcinoma	Substitution - Missense
c.1192G>A; p.E398K; 6:10398521-10398521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1169C>T; p.T390M; 6:10398544-10398544	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.104G>T; p.S35I; 6:10410259-10410259	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.101C>T; p.T34M; 6:10410262-10410262	pancreas	carcinoma	Substitution - Missense
c.262C>G; p.P88A; 6:10410101-10410101	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.477G>C; p.P159P; 6:10406830-10406830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.151T>C; p.Y51H; 6:10410212-10410212	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.169C>T; p.Q57*; 6:10410194-10410194	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.151T>C; p.Y51H; 6:10410212-10410212	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.151T>C; p.Y51H; 6:10410212-10410212	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.151T>C; p.Y51H; 6:10410212-10410212	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.607G>A; p.E203K; 6:10404647-10404647	breast	carcinoma	Substitution - Missense
c.628G>T; p.G210C; 6:10404626-10404626	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1239C>T; p.N413N; 6:10398474-10398474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.312G>C; p.T104T; 6:10410051-10410051	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.700C>G; p.P234A; 6:10404554-10404554	liver	carcinoma	Substitution - Missense
c.228G>A; p.L76L; 6:10410135-10410135	breast	carcinoma	Substitution - coding silent
c.700C>G; p.P234A; 6:10404554-10404554	liver	carcinoma	Substitution - Missense
c.913G>A; p.E305K; 6:10400542-10400542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.913G>A; p.E305K; 6:10400542-10400542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.913G>A; p.E305K; 6:10400542-10400542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.913G>A; p.E305K; 6:10400542-10400542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>T; p.G289*; 6:10402492-10402492	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.182C>T; p.P61L; 6:10410181-10410181	skin; mucosal	malignant_melanoma	Substitution - Missense
c.612C>A; p.V204V; 6:10404642-10404642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.602C>G; p.P201R; 6:10404652-10404652	thyroid	other; neoplasm	Substitution - Missense
c.1141G>A; p.G381S; 6:10398572-10398572	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.94C>T; p.P32S; 6:10410269-10410269	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.339G>A; p.S113S; 6:10410024-10410024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.212A>G; p.N71S; 6:10410151-10410151	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.801A>G; p.G267G; 6:10402556-10402556	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.901G>A; p.V301M; 6:10400554-10400554	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1015T>C; p.C339R; 6:10398698-10398698	breast	carcinoma	Substitution - Missense
c.197C>T; p.P66L; 6:10410166-10410166	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1072C>A; p.P358T; 6:10398641-10398641	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.701C>G; p.P234R; 6:10404553-10404553	liver	carcinoma	Substitution - Missense
c.701C>G; p.P234R; 6:10404553-10404553	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.150_152delATA; p.Y51delY; 6:10410211-10410213	skin	malignant_melanoma	Deletion - In frame
c.950G>C; p.R317P; 6:10400505-10400505	urinary_tract; bladder	carcinoma	Substitution - Missense
c.645C>A; p.L215L; 6:10404609-10404609	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.303C>T; p.L101L; 6:10410060-10410060	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.165C>T; p.P55P; 6:10410198-10410198	skin	malignant_melanoma	Substitution - coding silent
c.554C>G; p.S185C; 6:10404700-10404700	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.698C>T; p.S233L; 6:10404556-10404556	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.476C>T; p.P159L; 6:10406831-10406831	liver	carcinoma	Substitution - Missense
c.244C>T; p.Q82*; 6:10410119-10410119	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.750G>A; p.A250A; 6:10402607-10402607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.750G>A; p.A250A; 6:10402607-10402607	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.750G>A; p.A250A; 6:10402607-10402607	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1059G>A; p.L353L; 6:10398654-10398654	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1257C>G; p.N419K; 6:10398456-10398456	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.917T>A; p.F306Y; 6:10400538-10400538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1289G>A; p.R430K; 6:10398424-10398424	breast	carcinoma	Substitution - Missense
c.61C>T; p.R21W; 6:10410302-10410302	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.645C>T; p.L215L; 6:10404609-10404609	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.554C>T; p.S185F; 6:10404700-10404700	urinary_tract; bladder	carcinoma	Substitution - Missense
c.188C>T; p.S63L; 6:10410175-10410175	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1175T>C; p.L392P; 6:10398538-10398538	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.983G>T; p.R328I; 6:10400472-10400472	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.983G>T; p.R328I; 6:10400472-10400472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.258G>A; p.Q86Q; 6:10410105-10410105	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.30C>T; p.D10D; 6:10410333-10410333	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.749C>T; p.A250V; 6:10402608-10402608	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.749C>T; p.A250V; 6:10402608-10402608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.749C>T; p.A250V; 6:10402608-10402608	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1025T>G; p.F342C; 6:10398688-10398688	breast	carcinoma	Substitution - Missense
c.156C>T; p.F52F; 6:10410207-10410207	skin	malignant_melanoma	Substitution - coding silent
c.40G>A; p.G14S; 6:10410323-10410323	liver	carcinoma	Substitution - Missense
c.267C>G; p.G89G; 6:10410096-10410096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.399G>A; p.A133A; 6:10409964-10409964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.948C>G; p.N316K; 6:10400507-10400507	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.738G>A; p.V246V; 6:10404516-10404516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.350C>T; p.P117L; 6:10410013-10410013	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887G>T; p.R296M; 6:10400568-10400568	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.961G>A; p.D321N; 6:10400494-10400494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.240C>T; p.H80H; 6:10410123-10410123	pancreas	carcinoma	Substitution - coding silent
c.124A>C; p.T42P; 6:10410239-10410239	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.208G>A; p.V70I; 6:10410155-10410155	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.82G>T; p.V28L; 6:10410281-10410281	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.907G>A; p.E303K; 6:10400548-10400548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1140C>T; p.F380F; 6:10398573-10398573	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.592G>A; p.V198M; 6:10404662-10404662	thyroid	other; neoplasm	Substitution - Missense
c.1030G>T; p.D344Y; 6:10398683-10398683	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.387C>A; p.H129Q; 6:10409976-10409976	thyroid	other; neoplasm	Substitution - Missense
c.1189A>G; p.T397A; 6:10398524-10398524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.130A>C; p.N44H; 6:10410233-10410233	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.688C>T; p.R230W; 6:10404566-10404566	pancreas	carcinoma	Substitution - Missense
c.203C>T; p.S68F; 6:10410160-10410160	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation