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	5267
Symbol	SERPINA4
Synonymous	KAL\|KLST\|KST\|PI-4\|PI4\|kallistatin
Full name	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
Gene description	kallikrein inhibitor\|kallistatin\|peptidase inhibitor 4\|protease inhibitor 4 (kallistatin)\|serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4\|serpin A4
Cytoband	14q32.13
Gene type	protein-coding
Synonymous	MIM:147935; HGNC:HGNC:8948; Ensembl:ENSG00000100665; HPRD:01004; Vega:OTTHUMG00000170859

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1284G>T; p.*428Y; 14:94569595-94569595	lung	carcinoma; adenocarcinoma	Nonstop extension
c.1119T>C; p.A373A; 14:94569430-94569430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.48C>T; p.A16A; 14:94563530-94563530	thyroid	other; neoplasm	Substitution - coding silent
c.862G>A; p.E288K; 14:94567182-94567182	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.562A>T; p.K188*; 14:94564044-94564044	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.725G>A; p.R242Q; 14:94567045-94567045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.347A>C; p.D116A; 14:94563829-94563829	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.922A>C; p.R308R; 14:94567242-94567242	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.609G>A; p.K203K; 14:94564091-94564091	skin	malignant_melanoma	Substitution - coding silent
c.888G>A; p.E296E; 14:94567208-94567208	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.888G>A; p.E296E; 14:94567208-94567208	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1048G>A; p.G350S; 14:94568253-94568253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.861G>A; p.R287R; 14:94567181-94567181	skin	malignant_melanoma	Substitution - coding silent
c.786C>A; p.P262P; 14:94567106-94567106	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.33G>T; p.L11L; 14:94563515-94563515	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.373C>A; p.L125M; 14:94563855-94563855	liver	carcinoma	Substitution - Missense
c.519C>T; p.Y173Y; 14:94564001-94564001	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.519C>T; p.Y173Y; 14:94564001-94564001	oesophagus	carcinoma	Substitution - coding silent
c.519C>T; p.Y173Y; 14:94564001-94564001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.519C>T; p.Y173Y; 14:94564001-94564001	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.970T>G; p.S324A; 14:94568175-94568175	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>C; p.E358Q; 14:94568277-94568277	liver	carcinoma	Substitution - Missense
c.820G>C; p.A274P; 14:94567140-94567140	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1072G>C; p.E358Q; 14:94568277-94568277	liver	carcinoma	Substitution - Missense
c.1017G>A; p.T339T; 14:94568222-94568222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.476C>T; p.T159I; 14:94563958-94563958	skin	malignant_melanoma	Substitution - Missense
c.1209C>T; p.F403F; 14:94569520-94569520	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1209C>T; p.F403F; 14:94569520-94569520	skin	malignant_melanoma	Substitution - coding silent
c.864G>C; p.E288D; 14:94567184-94567184	urinary_tract; bladder	carcinoma	Substitution - Missense
c.263T>C; p.M88T; 14:94563745-94563745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1181G>A; p.R394H; 14:94569492-94569492	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1187T>A; p.I396N; 14:94569498-94569498	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1181G>A; p.R394H; 14:94569492-94569492	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.251C>G; p.A84G; 14:94563733-94563733	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.820G>T; p.A274S; 14:94567140-94567140	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.834C>T; p.F278F; 14:94567154-94567154	skin	malignant_melanoma	Substitution - coding silent
c.109C>A; p.Q37K; 14:94563591-94563591	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.453C>T; p.F151F; 14:94563935-94563935	skin	malignant_melanoma	Substitution - coding silent
c.917G>A; p.R306Q; 14:94567237-94567237	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.791C>A; p.S264*; 14:94567111-94567111	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1275G>A; p.T425T; 14:94569586-94569586	skin	malignant_melanoma	Substitution - coding silent
c.735G>A; p.M245I; 14:94567055-94567055	skin	malignant_melanoma	Substitution - Missense
c.1275G>A; p.T425T; 14:94569586-94569586	skin; arm	malignant_melanoma	Substitution - coding silent
c.918G>A; p.R306R; 14:94567238-94567238	skin	malignant_melanoma	Substitution - coding silent
c.918G>A; p.R306R; 14:94567238-94567238	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.710A>G; p.E237G; 14:94567030-94567030	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.579G>C; p.K193N; 14:94564061-94564061	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.27C>A; p.L9L; 14:94563509-94563509	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.344C>T; p.S115F; 14:94563826-94563826	skin	malignant_melanoma	Substitution - Missense
c.550G>A; p.D184N; 14:94564032-94564032	breast	carcinoma	Substitution - Missense
c.303C>A; p.I101I; 14:94563785-94563785	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.69C>T; p.H23H; 14:94563551-94563551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.331G>T; p.E111*; 14:94563813-94563813	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.903G>A; p.W301*; 14:94567223-94567223	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.393C>A; p.P131P; 14:94563875-94563875	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1192C>T; p.R398*; 14:94569503-94569503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.354T>C; p.H118H; 14:94563836-94563836	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.214G>A; p.G72R; 14:94563696-94563696	skin	malignant_melanoma	Substitution - Missense
c.297C>T; p.S99S; 14:94563779-94563779	skin	malignant_melanoma	Substitution - coding silent
c.297C>T; p.S99S; 14:94563779-94563779	skin	malignant_melanoma	Substitution - coding silent
c.7C>T; p.L3F; 14:94563489-94563489	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1004G>T; p.R335M; 14:94568209-94568209	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1182C>T; p.R394R; 14:94569493-94569493	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1040A>G; p.D347G; 14:94568245-94568245	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1246C>T; p.L416F; 14:94569557-94569557	skin	malignant_melanoma	Substitution - Missense
c.235C>A; p.P79T; 14:94563717-94563717	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235C>A; p.P79T; 14:94563717-94563717	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.520G>C; p.D174H; 14:94564002-94564002	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.137C>T; p.S46F; 14:94563619-94563619	skin	malignant_melanoma	Substitution - Missense
c.28C>T; p.L10L; 14:94563510-94563510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.412C>G; p.R138G; 14:94563894-94563894	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.924G>A; p.R308R; 14:94568129-94568129	skin	malignant_melanoma	Substitution - coding silent
c.897G>A; p.M299I; 14:94567217-94567217	skin	malignant_melanoma	Substitution - Missense
c.867T>A; p.I289I; 14:94567187-94567187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.868G>T; p.E290*; 14:94567188-94567188	breast	carcinoma	Substitution - Nonsense
c.868G>T; p.E290*; 14:94567188-94567188	breast	carcinoma	Substitution - Nonsense
c.208A>T; p.T70S; 14:94563690-94563690	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.55delC; p.H19fs*33; 14:94563537-94563537	breast	carcinoma	Deletion - Frameshift
c.150G>A; p.K50K; 14:94563632-94563632	skin	malignant_melanoma	Substitution - coding silent
c.12C>T; p.I4I; 14:94563494-94563494	skin	malignant_melanoma	Substitution - coding silent
c.776G>T; p.R259I; 14:94567096-94567096	skin	malignant_melanoma	Substitution - Missense
c.635A>G; p.Y212C; 14:94564117-94564117	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.441C>A; p.H147Q; 14:94563923-94563923	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.769C>A; p.H257N; 14:94567089-94567089	breast	carcinoma	Substitution - Missense
c.916C>T; p.R306W; 14:94567236-94567236	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.916C>T; p.R306W; 14:94567236-94567236	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1015A>G; p.T339A; 14:94568220-94568220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1064A>C; p.Q355P; 14:94568269-94568269	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.739C>T; p.L247L; 14:94567059-94567059	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.177C>A; p.A59A; 14:94563659-94563659	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.841C>T; p.P281S; 14:94567161-94567161	skin	malignant_melanoma	Substitution - Missense
c.799C>A; p.R267R; 14:94567119-94567119	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.212C>A; p.P71Q; 14:94563694-94563694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.219G>T; p.K73N; 14:94563701-94563701	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.830T>G; p.F277C; 14:94567150-94567150	breast	carcinoma	Substitution - Missense
c.1139C>A; p.A380D; 14:94569450-94569450	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.612C>T; p.D204D; 14:94564094-94564094	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.612C>T; p.D204D; 14:94564094-94564094	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.963C>A; p.F321L; 14:94568168-94568168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.963C>A; p.F321L; 14:94568168-94568168	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.128G>A; p.G43D; 14:94563610-94563610	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1161C>A; p.F387L; 14:94569472-94569472	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1212_1213insGTG; p.V406_I407insV; 14:94569523-94569524	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - In frame
c.64C>T; p.L22L; 14:94563546-94563546	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.346G>A; p.D116N; 14:94563828-94563828	skin	malignant_melanoma	Substitution - Missense
c.346G>A; p.D116N; 14:94563828-94563828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811A>C; p.K271Q; 14:94567131-94567131	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1180C>T; p.R394C; 14:94569491-94569491	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.681G>A; p.R227R; 14:94567001-94567001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.435G>A; p.L145L; 14:94563917-94563917	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.566A>G; p.E189G; 14:94564048-94564048	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.596G>A; p.S199N; 14:94564078-94564078	skin	malignant_melanoma	Substitution - Missense
c.118C>A; p.L40M; 14:94563600-94563600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.406G>A; p.E136K; 14:94563888-94563888	skin	malignant_melanoma	Substitution - Missense
c.465C>T; p.F155F; 14:94563947-94563947	skin	malignant_melanoma	Substitution - coding silent
c.433C>A; p.L145M; 14:94563915-94563915	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.141C>A; p.P47P; 14:94563623-94563623	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.357G>A; p.R119R; 14:94563839-94563839	skin	malignant_melanoma	Substitution - coding silent
c.243C>A; p.S81R; 14:94563725-94563725	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.203C>T; p.S68L; 14:94563685-94563685	skin; neck	malignant_melanoma	Substitution - Missense
c.135C>A; p.G45G; 14:94563617-94563617	pancreas	carcinoma	Substitution - coding silent
c.868G>A; p.E290K; 14:94567188-94567188	skin	malignant_melanoma	Substitution - Missense
c.1232G>T; p.S411I; 14:94569543-94569543	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.694G>T; p.D232Y; 14:94567014-94567014	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.269C>T; p.S90F; 14:94563751-94563751	skin	malignant_melanoma	Substitution - Missense
c.899G>T; p.R300M; 14:94567219-94567219	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.135C>T; p.G45G; 14:94563617-94563617	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.104C>A; p.S35Y; 14:94563586-94563586	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.899G>T; p.R300M; 14:94567219-94567219	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.537C>G; p.I179M; 14:94564019-94564019	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1265T>C; p.V422A; 14:94569576-94569576	oesophagus	carcinoma	Substitution - Missense
c.819C>T; p.D273D; 14:94567139-94567139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.690C>G; p.P230P; 14:94567010-94567010	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.656G>A; p.W219*; 14:94566976-94566976	skin	malignant_melanoma	Substitution - Nonsense
c.304C>G; p.L102V; 14:94563786-94563786	skin	malignant_melanoma	Substitution - Missense
c.492G>A; p.E164E; 14:94563974-94563974	skin	malignant_melanoma	Substitution - coding silent
c.613G>T; p.V205F; 14:94564095-94564095	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.304C>T; p.L102F; 14:94563786-94563786	skin	malignant_melanoma	Substitution - Missense
c.613G>T; p.V205F; 14:94564095-94564095	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.21G>T; p.L7L; 14:94563503-94563503	breast	carcinoma	Substitution - coding silent
c.181C>T; p.R61C; 14:94563663-94563663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890T>C; p.M297T; 14:94567210-94567210	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.196A>G; p.I66V; 14:94563678-94563678	pancreas	carcinoma	Substitution - Missense
c.745G>T; p.D249Y; 14:94567065-94567065	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.207G>A; p.E69E; 14:94563689-94563689	skin	malignant_melanoma	Substitution - coding silent
c.234C>A; p.S78S; 14:94563716-94563716	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.561G>A; p.K187K; 14:94564043-94564043	skin	malignant_melanoma	Substitution - coding silent
c.1146C>A; p.S382R; 14:94569457-94569457	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1146C>A; p.S382R; 14:94569457-94569457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1146C>A; p.S382R; 14:94569457-94569457	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871G>A; p.E291K; 14:94567191-94567191	skin	malignant_melanoma	Substitution - Missense
c.1185C>T; p.H395H; 14:94569496-94569496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.484G>A; p.V162I; 14:94563966-94563966	breast	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation