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	6692
Symbol	SPINT1
Synonymous	HAI\|HAI1\|MANSC2
Full name	serine peptidase inhibitor, Kunitz type 1
Gene description	HAI-1\|hepatocyte growth factor activator inhibitor type 1\|kunitz-type protease inhibitor 1\|serine protease inhibitor, Kunitz type 1
Cytoband	15q15.1
Gene type	protein-coding
Synonymous	MIM:605123; HGNC:HGNC:11246; Ensembl:ENSG00000166145; HPRD:05494; Vega:OTTHUMG00000130068

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.587C>T; p.T196M; 15:40853235-40853235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.357C>G; p.I119M; 15:40844911-40844911	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1240G>A; p.E414K; 15:40855966-40855966	skin	malignant_melanoma	Substitution - Missense
c.1503delC; p.P502fs*>28; 15:40856888-40856888	NS	malignant_melanoma	Deletion - Frameshift
c.822C>T; p.I274I; 15:40853790-40853790	skin	malignant_melanoma	Substitution - coding silent
c.822C>T; p.I274I; 15:40853790-40853790	skin	malignant_melanoma	Substitution - coding silent
c.290G>T; p.C97F; 15:40844844-40844844	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.307G>T; p.E103*; 15:40844861-40844861	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1109delA; p.K371fs*82; 15:40854517-40854517	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1139A>G; p.Q380R; 15:40854663-40854663	prostate	carcinoma	Substitution - Missense
c.1369C>T; p.P457S; 15:40856308-40856308	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.633G>T; p.W211C; 15:40853518-40853518	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.135C>T; p.P45P; 15:40844689-40844689	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.798G>A; p.W266*; 15:40853766-40853766	skin; neck	malignant_melanoma	Substitution - Nonsense
c.1326C>T; p.R442R; 15:40856052-40856052	thyroid	other; neoplasm	Substitution - coding silent
c.1326C>T; p.R442R; 15:40856052-40856052	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1326C>T; p.R442R; 15:40856052-40856052	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1152C>T; p.F384F; 15:40854676-40854676	skin	malignant_melanoma	Substitution - coding silent
c.1159G>A; p.D387N; 15:40854683-40854683	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.684C>A; p.D228E; 15:40853569-40853569	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1525T>A; p.S509T; 15:40856910-40856910	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.966C>T; p.P322P; 15:40854064-40854064	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.663G>C; p.Q221H; 15:40853548-40853548	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.476-1G>T; p.?; 15:40853123-40853123	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Unknown
c.1108G>A; p.E370K; 15:40854516-40854516	skin	malignant_melanoma	Substitution - Missense
c.1213C>T; p.P405S; 15:40855939-40855939	skin	malignant_melanoma	Substitution - Missense
c.518T>G; p.V173G; 15:40853166-40853166	breast	carcinoma	Substitution - Missense
c.1352G>A; p.G451D; 15:40856291-40856291	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1065C>A; p.D355E; 15:40854473-40854473	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1217G>A; p.R406H; 15:40855943-40855943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1461C>T; p.F487F; 15:40856846-40856846	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1448T>C; p.L483S; 15:40856833-40856833	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.104C>A; p.A35D; 15:40844658-40844658	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1226A>C; p.Y409S; 15:40855952-40855952	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.562G>T; p.D188Y; 15:40853210-40853210	breast	carcinoma	Substitution - Missense
c.947C>T; p.A316V; 15:40853915-40853915	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1446C>T; p.I482I; 15:40856831-40856831	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.947C>T; p.A316V; 15:40853915-40853915	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.947C>T; p.A316V; 15:40853915-40853915	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.947C>T; p.A316V; 15:40853915-40853915	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1115-2A>G; p.?; 15:40854637-40854637	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.206T>C; p.V69A; 15:40844760-40844760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>T; p.R527W; 15:40856964-40856964	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.969C>T; p.S323S; 15:40854067-40854067	skin	malignant_melanoma	Substitution - coding silent
c.423C>A; p.L141L; 15:40844977-40844977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.954delC; p.Q320fs*133; 15:40853922-40853922	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1166-5C>T; p.?; 15:40855887-40855887	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1239C>T; p.S413S; 15:40855965-40855965	thyroid	other; neoplasm	Substitution - coding silent
c.1239C>T; p.S413S; 15:40855965-40855965	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.698C>T; p.T233M; 15:40853583-40853583	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.980G>A; p.R327H; 15:40854078-40854078	central_nervous_system; brain	glioma	Substitution - Missense
c.653A>G; p.Y218C; 15:40853538-40853538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1158T>C; p.S386S; 15:40854682-40854682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158T>C; p.S386S; 15:40854682-40854682	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.960G>C; p.Q320H; 15:40853928-40853928	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1042A>G; p.I348V; 15:40854450-40854450	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1579C>A; p.R527R; 15:40856964-40856964	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1053C>T; p.F351F; 15:40854461-40854461	skin	malignant_melanoma	Substitution - coding silent
c.1236C>T; p.F412F; 15:40855962-40855962	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1236C>T; p.F412F; 15:40855962-40855962	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1324C>T; p.R442C; 15:40856050-40856050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1233C>T; p.P411P; 15:40855959-40855959	breast	carcinoma	Substitution - coding silent
c.713T>G; p.V238G; 15:40853598-40853598	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1361G>T; p.R454L; 15:40856300-40856300	skin	malignant_melanoma	Substitution - Missense
c.1361G>T; p.R454L; 15:40856300-40856300	skin	malignant_melanoma	Substitution - Missense
c.1334C>T; p.S445F; 15:40856060-40856060	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1085A>G; p.D362G; 15:40854493-40854493	skin	malignant_melanoma	Substitution - Missense
c.1103C>T; p.A368V; 15:40854511-40854511	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.812C>T; p.T271M; 15:40853780-40853780	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.402G>T; p.R134S; 15:40844956-40844956	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.855C>T; p.G285G; 15:40853823-40853823	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1123G>C; p.G375R; 15:40854647-40854647	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.37G>T; p.A13S; 15:40844591-40844591	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.529G>A; p.E177K; 15:40853177-40853177	breast	carcinoma	Substitution - Missense
c.834C>T; p.F278F; 15:40853802-40853802	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.834C>T; p.F278F; 15:40853802-40853802	skin	malignant_melanoma	Substitution - coding silent
c.1492C>T; p.H498Y; 15:40856877-40856877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation