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	6916
Symbol	TBXAS1
Synonymous	BDPLT14\|CYP5\|CYP5A1\|GHOSAL\|THAS\|TS\|TXAS\|TXS
Full name	thromboxane A synthase 1 (platelet)
Gene description	TXA synthase\|cytochrome P450 5A1\|cytochrome P450, family 5, subfamily A, polypeptide 1\|platelet, cytochrome P450, subfamily V\|thromboxane-A synthase
Cytoband	7q34-q35
Gene type	protein-coding
Synonymous	MIM:274180; HGNC:HGNC:11609; Ensembl:ENSG00000059377; HPRD:02035; Vega:OTTHUMG00000157302

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.966T>G; p.P322P; 7:139962062-139962062	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.62T>C; p.L21P; 7:139829449-139829449	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1203G>A; p.T401T; 7:140007156-140007156	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1024G>A; p.A342T; 7:139962120-139962120	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.405G>T; p.E135D; 7:139936259-139936259	skin	malignant_melanoma	Substitution - Missense
c.881G>T; p.G294V; 7:139961977-139961977	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1067A>G; p.Y356C; 7:139962163-139962163	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1378G>A; p.E460K; 7:140017681-140017681	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1247C>G; p.A416G; 7:140015740-140015740	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1205T>C; p.L402P; 7:140007158-140007158	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.367G>A; p.D123N; 7:139936221-139936221	salivary_gland; maxilla	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1343G>A; p.S448N; 7:140015836-140015836	skin	malignant_melanoma	Substitution - Missense
c.822G>A; p.E274E; 7:139957764-139957764	skin	malignant_melanoma	Substitution - coding silent
c.1202C>T; p.T401M; 7:140007155-140007155	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.900C>T; p.I300I; 7:139961996-139961996	skin	malignant_melanoma	Substitution - coding silent
c.595C>T; p.P199S; 7:139955511-139955511	skin	malignant_melanoma	Substitution - Missense
c.327C>A; p.T109T; 7:139911312-139911312	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.257G>A; p.R86Q; 7:139911242-139911242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.80C>T; p.A27V; 7:139829467-139829467	skin	malignant_melanoma	Substitution - Missense
c.1593C>T; p.I531I; 7:140020087-140020087	skin	malignant_melanoma	Substitution - coding silent
c.646C>T; p.R216C; 7:139955562-139955562	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.923C>T; p.T308I; 7:139962019-139962019	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.523G>A; p.D175N; 7:139953437-139953437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.991G>A; p.E331K; 7:139962087-139962087	skin	malignant_melanoma	Substitution - Missense
c.1419C>T; p.F473F; 7:140017722-140017722	skin	malignant_melanoma	Substitution - coding silent
c.1518C>T; p.C506C; 7:140017821-140017821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.695C>T; p.S232L; 7:139957637-139957637	skin	malignant_melanoma	Substitution - Missense
c.695C>T; p.S232L; 7:139957637-139957637	skin	malignant_melanoma	Substitution - Missense
c.695C>T; p.S232L; 7:139957637-139957637	skin	malignant_melanoma	Substitution - Missense
c.654C>T; p.F218F; 7:139955570-139955570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.525C>T; p.D175D; 7:139953439-139953439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.307G>A; p.E103K; 7:139911292-139911292	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.845T>C; p.M282T; 7:139961941-139961941	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.845T>C; p.M282T; 7:139961941-139961941	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.250G>T; p.G84C; 7:139911235-139911235	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.499T>C; p.L167L; 7:139953413-139953413	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1267G>C; p.G423R; 7:140015760-140015760	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1373C>T; p.T458M; 7:140017676-140017676	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1219C>A; p.P407T; 7:140007172-140007172	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1224T>G; p.A408A; 7:140007177-140007177	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.959C>T; p.P320L; 7:139962055-139962055	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.147G>A; p.K49K; 7:139872289-139872289	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1002C>T; p.G334G; 7:139962098-139962098	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.909C>T; p.D303D; 7:139962005-139962005	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.826C>T; p.R276W; 7:139961922-139961922	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.768T>C; p.F256F; 7:139957710-139957710	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.746G>A; p.R249Q; 7:139957688-139957688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1233C>T; p.F411F; 7:140015726-140015726	skin	malignant_melanoma	Substitution - coding silent
c.542G>T; p.R181M; 7:139953456-139953456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.456G>T; p.M152I; 7:139953370-139953370	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.185A>C; p.Q62P; 7:139872327-139872327	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.29T>G; p.L10W; 7:139829416-139829416	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1182G>A; p.L394L; 7:140007135-140007135	skin	malignant_melanoma	Substitution - coding silent
c.1097A>T; p.E366V; 7:139962193-139962193	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1011C>T; p.F337F; 7:139962107-139962107	skin	malignant_melanoma	Substitution - coding silent
c.1347G>A; p.P449P; 7:140015840-140015840	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1174C>T; p.P392S; 7:140007127-140007127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1486C>T; p.H496Y; 7:140017789-140017789	skin	malignant_melanoma	Substitution - Missense
c.537C>A; p.I179I; 7:139953451-139953451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.619G>A; p.E207K; 7:139955535-139955535	urinary_tract; bladder	carcinoma	Substitution - Missense
c.239+1G>A; p.?; 7:139875638-139875638	lung	carcinoma; adenocarcinoma	Unknown
c.1434G>A; p.R478R; 7:140017737-140017737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.480C>T; p.C160C; 7:139953394-139953394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.506G>C; p.R169P; 7:139953420-139953420	skin	malignant_melanoma	Substitution - Missense
c.134T>C; p.L45P; 7:139872276-139872276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.V17M; 7:139829436-139829436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.647G>A; p.R216H; 7:139955563-139955563	liver	carcinoma	Substitution - Missense
c.1336T>A; p.W446R; 7:140015829-140015829	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>A; p.R216H; 7:139955563-139955563	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>A; p.R216H; 7:139955563-139955563	liver	carcinoma	Substitution - Missense
c.647G>A; p.R216H; 7:139955563-139955563	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.19T>C; p.F7L; 7:139829406-139829406	skin	malignant_melanoma	Substitution - Missense
c.830G>T; p.R277I; 7:139961926-139961926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.830G>T; p.R277I; 7:139961926-139961926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.19T>C; p.F7L; 7:139829406-139829406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.606C>T; p.S202S; 7:139955522-139955522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.830G>T; p.R277I; 7:139961926-139961926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1569delA; p.N525fs*>10; 7:140020063-140020063	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.578G>A; p.S193N; 7:139955494-139955494	breast	carcinoma	Substitution - Missense
c.82C>T; p.L28F; 7:139829469-139829469	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.465C>T; p.L155L; 7:139953379-139953379	skin	malignant_melanoma	Substitution - coding silent
c.963C>T; p.S321S; 7:139962059-139962059	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.804C>A; p.D268E; 7:139957746-139957746	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.E134K; 7:139936254-139936254	skin	malignant_melanoma	Substitution - Missense
c.427G>A; p.A143T; 7:139936281-139936281	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.917C>T; p.S306F; 7:139962013-139962013	skin	malignant_melanoma	Substitution - Missense
c.505C>T; p.R169C; 7:139953419-139953419	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1535C>T; p.P512L; 7:140020029-140020029	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1594G>A; p.V532I; 7:140020088-140020088	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1559C>T; p.A520V; 7:140020053-140020053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.597G>A; p.P199P; 7:139955513-139955513	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.621G>T; p.E207D; 7:139955537-139955537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.793G>T; p.A265S; 7:139957735-139957735	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>A; p.V125I; 7:139936227-139936227	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.666C>T; p.I222I; 7:139955582-139955582	skin	malignant_melanoma	Substitution - coding silent
c.580G>C; p.V194L; 7:139955496-139955496	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.608G>T; p.W203L; 7:139955524-139955524	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.705C>T; p.S235S; 7:139957647-139957647	skin	malignant_melanoma	Substitution - coding silent
c.655G>A; p.E219K; 7:139955571-139955571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.860G>A; p.R287Q; 7:139961956-139961956	skin	malignant_melanoma	Substitution - Missense
c.256C>T; p.R86W; 7:139911241-139911241	pancreas	carcinoma	Substitution - Missense
c.256C>T; p.R86W; 7:139911241-139911241	pancreas	carcinoma	Substitution - Missense
c.256C>T; p.R86W; 7:139911241-139911241	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.338C>T; p.A113V; 7:139936192-139936192	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.751G>A; p.E251K; 7:139957693-139957693	skin	malignant_melanoma	Substitution - Missense
c.54G>A; p.T18T; 7:139829441-139829441	central_nervous_system; brain	glioma	Substitution - coding silent
c.211C>T; p.L71F; 7:139875609-139875609	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.751G>A; p.E251K; 7:139957693-139957693	skin	malignant_melanoma	Substitution - Missense
c.1152C>G; p.F384L; 7:140007105-140007105	urinary_tract; bladder	carcinoma	Substitution - Missense
c.704C>T; p.S235F; 7:139957646-139957646	skin	malignant_melanoma	Substitution - Missense
c.964C>T; p.P322S; 7:139962060-139962060	skin	malignant_melanoma	Substitution - Missense
c.583G>A; p.A195T; 7:139955499-139955499	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.65C>T; p.S22L; 7:139829452-139829452	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.944C>T; p.S315F; 7:139962040-139962040	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1322A>G; p.H441R; 7:140015815-140015815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1273C>T; p.R425C; 7:140015766-140015766	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1023C>T; p.I341I; 7:139962119-139962119	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.420G>A; p.L140L; 7:139936274-139936274	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.159C>T; p.F53F; 7:139872301-139872301	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1542G>A; p.Q514Q; 7:140020036-140020036	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.288G>A; p.M96I; 7:139911273-139911273	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1367+1G>T; p.?; 7:140015861-140015861	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1152C>A; p.F384L; 7:140007105-140007105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1025C>T; p.A342V; 7:139962121-139962121	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.625C>T; p.P209S; 7:139955541-139955541	skin	malignant_melanoma	Substitution - Missense
c.756G>T; p.L252L; 7:139957698-139957698	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.537C>G; p.I179M; 7:139953451-139953451	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1536G>A; p.P512P; 7:140020030-140020030	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1581C>T; p.V527V; 7:140020075-140020075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.969G>A; p.M323I; 7:139962065-139962065	skin; trunk	malignant_melanoma	Substitution - Missense
c.985G>C; p.V329L; 7:139962081-139962081	breast	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation