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	5265
Symbol	SERPINA1
Synonymous	A1A\|A1AT\|AAT\|PI\|PI1\|PRO2275\|alpha1AT
Full name	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Gene description	alpha-1 protease inhibitor\|alpha-1-antiproteinase\|alpha-1-antitrypsin\|alpha-1-antitrypsin null\|protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin\|serine (or cysteine) proteinase inhibitor, clade A, member 1\|serpin A1
Cytoband	14q32.1
Gene type	protein-coding
Synonymous	MIM:107400; HGNC:HGNC:8941; Ensembl:ENSG00000197249; HPRD:02463; Vega:OTTHUMG00000150355

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1009A>C; p.S337R; 14:94379520-94379520	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1030G>A; p.G344R; 14:94379499-94379499	breast	carcinoma	Substitution - Missense
c.619G>T; p.A207S; 14:94382619-94382619	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1015G>A; p.G339R; 14:94379514-94379514	skin	malignant_melanoma	Substitution - Missense
c.879C>T; p.H293H; 14:94380909-94380909	skin	malignant_melanoma	Substitution - coding silent
c.752T>A; p.F251Y; 14:94381036-94381036	oesophagus	carcinoma	Substitution - Missense
c.831C>T; p.F277F; 14:94380957-94380957	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.479delA; p.K160fs*50; 14:94382759-94382759	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.479delA; p.K160fs*50; 14:94382759-94382759	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.907G>A; p.E303K; 14:94380881-94380881	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4C>G; p.P2A; 14:94383234-94383234	breast	carcinoma	Substitution - Missense
c.206C>A; p.S69Y; 14:94383032-94383032	pancreas	carcinoma	Substitution - Missense
c.735G>A; p.M245I; 14:94381053-94381053	skin	malignant_melanoma	Substitution - Missense
c.206C>A; p.S69Y; 14:94383032-94383032	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.362A>C; p.Q121P; 14:94382876-94382876	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.873C>T; p.L291L; 14:94380915-94380915	skin	malignant_melanoma	Substitution - coding silent
c.456T>G; p.D152E; 14:94382782-94382782	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.326C>T; p.T109M; 14:94382912-94382912	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1216C>T; p.P406S; 14:94378490-94378490	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.609C>G; p.D203E; 14:94382629-94382629	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.187C>T; p.R63C; 14:94383051-94383051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.554T>C; p.V185A; 14:94382684-94382684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.996C>T; p.I332I; 14:94379533-94379533	skin	malignant_melanoma	Substitution - coding silent
c.956G>A; p.G319E; 14:94379573-94379573	skin	malignant_melanoma	Substitution - Missense
c.1158delC; p.E387fs*11; 14:94378548-94378548	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.458A>C; p.K153T; 14:94382780-94382780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.225C>A; p.F75L; 14:94383013-94383013	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.414C>T; p.T138T; 14:94382824-94382824	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.877C>T; p.H293Y; 14:94380911-94380911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1200A>C; p.E400D; 14:94378506-94378506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1200A>C; p.E400D; 14:94378506-94378506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1200A>C; p.E400D; 14:94378506-94378506	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1200A>C; p.E400D; 14:94378506-94378506	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1200A>C; p.E400D; 14:94378506-94378506	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1200A>C; p.E400D; 14:94378506-94378506	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.266C>T; p.S89F; 14:94382972-94382972	skin	malignant_melanoma	Substitution - Missense
c.1200A>C; p.E400D; 14:94378506-94378506	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.266C>T; p.S89F; 14:94382972-94382972	skin	malignant_melanoma	Substitution - Missense
c.1081G>A; p.V361M; 14:94378625-94378625	liver	carcinoma	Substitution - Missense
c.1081G>A; p.V361M; 14:94378625-94378625	liver	carcinoma	Substitution - Missense
c.6G>A; p.P2P; 14:94383232-94383232	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.878A>G; p.H293R; 14:94380910-94380910	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854A>C; p.Q285P; 14:94380934-94380934	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.854A>C; p.Q285P; 14:94380934-94380934	large_intestine; colon	carcinoma	Substitution - Missense
c.491C>A; p.S164*; 14:94382747-94382747	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.271G>A; p.G91R; 14:94382967-94382967	skin	malignant_melanoma	Substitution - Missense
c.1239G>A; p.V413V; 14:94378467-94378467	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.901G>A; p.E301K; 14:94380887-94380887	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1069G>A; p.V357M; 14:94378637-94378637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.138C>T; p.T46T; 14:94383100-94383100	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.739C>T; p.R247C; 14:94381049-94381049	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.739C>T; p.R247C; 14:94381049-94381049	urinary_tract; bladder	carcinoma	Substitution - Missense
c.739C>T; p.R247C; 14:94381049-94381049	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1130delT; p.L377fs*1; 14:94378576-94378576	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.739C>T; p.R247C; 14:94381049-94381049	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.732G>A; p.M244I; 14:94381056-94381056	skin	malignant_melanoma	Substitution - Missense
c.552C>G; p.Y184*; 14:94382686-94382686	breast	carcinoma	Substitution - Nonsense
c.1029C>T; p.S343S; 14:94379500-94379500	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1029C>T; p.S343S; 14:94379500-94379500	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.639C>T; p.F213F; 14:94382599-94382599	breast	carcinoma	Substitution - coding silent
c.682G>A; p.E228K; 14:94381106-94381106	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.849delA; p.K283fs*41; 14:94380939-94380939	breast	carcinoma	Deletion - Frameshift
c.1076delA; p.K359fs*4; 14:94378630-94378630	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1076delA; p.K359fs*4; 14:94378630-94378630	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.171C>T; p.F57F; 14:94383067-94383067	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1178_1179CC>TT; p.P393L; 14:94378527-94378528	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.267C>T; p.S89S; 14:94382971-94382971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.85G>A; p.G29R; 14:94383153-94383153	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1016G>A; p.G339E; 14:94379513-94379513	skin	malignant_melanoma	Substitution - Missense
c.1015G>T; p.G339W; 14:94379514-94379514	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.18G>A; p.S6S; 14:94383220-94383220	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.18G>A; p.S6S; 14:94383220-94383220	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.762G>C; p.Q254H; 14:94381026-94381026	ovary	other; neoplasm	Substitution - Missense
c.244G>A; p.A82T; 14:94382994-94382994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1159_1160insC; p.E387fs*14; 14:94378546-94378547	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.961T>A; p.Y321N; 14:94379568-94379568	large_intestine; colon	adenoma	Substitution - Missense
c.1228G>A; p.G410R; 14:94378478-94378478	skin	malignant_melanoma	Substitution - Missense
c.1228G>A; p.G410R; 14:94378478-94378478	skin	malignant_melanoma	Substitution - Missense
c.803A>T; p.Y268F; 14:94380985-94380985	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.285C>A; p.D95E; 14:94382953-94382953	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.356G>A; p.G119D; 14:94382882-94382882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.522C>T; p.T174T; 14:94382716-94382716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.601G>T; p.D201Y; 14:94382637-94382637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497C>T; p.A166V; 14:94382741-94382741	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.626T>C; p.V209A; 14:94382612-94382612	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.612_613insA; p.V205fs*11; 14:94382625-94382626	liver	carcinoma	Insertion - Frameshift
c.509A>C; p.N170T; 14:94382729-94382729	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.509A>C; p.N170T; 14:94382729-94382729	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.800A>G; p.K267R; 14:94380988-94380988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.152C>T; p.T51I; 14:94383086-94383086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379C>A; p.L127I; 14:94382859-94382859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1219C>G; p.L407V; 14:94378487-94378487	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1082T>C; p.V361A; 14:94378624-94378624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.T227T; 14:94381107-94381107	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.681C>T; p.T227T; 14:94381107-94381107	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.979C>T; p.L327L; 14:94379550-94379550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.710T>C; p.V237A; 14:94381078-94381078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.461T>C; p.F154S; 14:94382777-94382777	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>C; p.E165Q; 14:94382745-94382745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.589G>T; p.V197F; 14:94382649-94382649	pleura	pulmonary_blastoma	Substitution - Missense
c.268C>A; p.L90M; 14:94382970-94382970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126G>A; p.Q42Q; 14:94383112-94383112	skin	malignant_melanoma	Substitution - coding silent
c.373C>T; p.R125C; 14:94382865-94382865	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.895T>G; p.F299V; 14:94380893-94380893	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1176A>C; p.K392N; 14:94378530-94378530	thyroid	other; neoplasm	Substitution - Missense
c.292G>A; p.D98N; 14:94382946-94382946	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1229G>A; p.G410E; 14:94378477-94378477	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.945G>T; p.L315L; 14:94379584-94379584	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1061C>T; p.S354F; 14:94379468-94379468	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.828C>T; p.F276F; 14:94380960-94380960	skin	malignant_melanoma	Substitution - coding silent
c.1159G>A; p.E387K; 14:94378547-94378547	skin	malignant_melanoma	Substitution - Missense
c.1075A>G; p.K359E; 14:94378631-94378631	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.613G>A; p.V205I; 14:94382625-94382625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.563G>A; p.G188D; 14:94382675-94382675	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.563G>A; p.G188D; 14:94382675-94382675	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.795G>A; p.L265L; 14:94380993-94380993	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.364G>A; p.E122K; 14:94382874-94382874	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.740G>A; p.R247H; 14:94381048-94381048	liver	carcinoma	Substitution - Missense
c.1065+1G>A; p.?; 14:94379463-94379463	breast	carcinoma	Unknown
c.888C>T; p.I296I; 14:94380900-94380900	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1065+1G>A; p.?; 14:94379463-94379463	skin; face	carcinoma; squamous_cell_carcinoma	Unknown
c.740G>A; p.R247H; 14:94381048-94381048	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.740G>A; p.R247H; 14:94381048-94381048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.696C>T; p.F232F; 14:94381092-94381092	skin	malignant_melanoma	Substitution - coding silent
c.853C>T; p.Q285*; 14:94380935-94380935	thyroid	carcinoma	Substitution - Nonsense
c.976G>A; p.V326I; 14:94379553-94379553	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.956G>T; p.G319V; 14:94379573-94379573	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1067C>T; p.A356V; 14:94378639-94378639	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1158_1159insC; p.E387fs*14; 14:94378547-94378548	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1158_1159insC; p.E387fs*14; 14:94378547-94378548	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.243C>A; p.I81I; 14:94382995-94382995	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.389C>T; p.P130L; 14:94382849-94382849	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.243C>A; p.I81I; 14:94382995-94382995	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.223T>A; p.F75I; 14:94383015-94383015	liver	carcinoma	Substitution - Missense
c.17C>T; p.S6L; 14:94383221-94383221	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.17C>T; p.S6L; 14:94383221-94383221	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1148C>A; p.S383Y; 14:94378558-94378558	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.374G>A; p.R125H; 14:94382864-94382864	skin	malignant_melanoma	Substitution - Missense
c.318C>T; p.F106F; 14:94382920-94382920	breast	carcinoma	Substitution - coding silent
c.374G>A; p.R125H; 14:94382864-94382864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.374G>A; p.R125H; 14:94382864-94382864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.374G>A; p.R125H; 14:94382864-94382864	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation