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	9131
Symbol	AIFM1
Synonymous	AIF\|CMT2D\|CMTX4\|COWCK\|COXPD6\|NADMR\|NAMSD\|PDCD8
Full name	apoptosis-inducing factor, mitochondrion-associated, 1
Gene description	Neuropathy, axonal motor-sensory, with deafness and mental retardation\|apoptosis-inducing factor 1, mitochondrial\|neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)\|programmed cell death 8 (apoptosis-inducing factor
Cytoband	Xq26.1
Gene type	protein-coding
Synonymous	MIM:300169; MIM:310490; HGNC:HGNC:8768; Ensembl:ENSG00000156709; HPRD:02161; Vega:OTTHUMG00000022392

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.789G>A; p.L263L; 23:130139852-130139852	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1353T>A; p.H451Q; 23:130133396-130133396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.940G>T; p.A314S; 23:130138608-130138608	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1237G>T; p.D413Y; 23:130136101-130136101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1277G>A; p.R426H; 23:130136061-130136061	prostate	carcinoma	Substitution - Missense
c.401G>T; p.G134V; 23:130147813-130147813	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.881G>A; p.R294Q; 23:130138667-130138667	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1181T>G; p.V394G; 23:130136157-130136157	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.992C>A; p.P331H; 23:130137149-130137149	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1206G>C; p.L402F; 23:130136132-130136132	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.140G>T; p.R47I; 23:130155253-130155253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1765A>T; p.K589*; 23:130129622-130129622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.737A>C; p.Q246P; 23:130140565-130140565	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1698C>A; p.D566E; 23:130130030-130130030	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.782G>T; p.R261I; 23:130139859-130139859	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1631C>T; p.P544L; 23:130130097-130130097	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.927C>T; p.S309S; 23:130138621-130138621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.927C>T; p.S309S; 23:130138621-130138621	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.956C>A; p.A319D; 23:130137185-130137185	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1080G>A; p.M360I; 23:130136715-130136715	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1195A>C; p.N399H; 23:130136143-130136143	skin	malignant_melanoma	Substitution - Missense
c.594-1G>T; p.?; 23:130145570-130145570	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1767G>T; p.K589N; 23:130129620-130129620	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1744C>T; p.P582S; 23:130129984-130129984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1141G>T; p.D381Y; 23:130136654-130136654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1179T>G; p.A393A; 23:130136159-130136159	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.886G>T; p.V296F; 23:130138662-130138662	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.886G>T; p.V296F; 23:130138662-130138662	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.886G>T; p.V296F; 23:130138662-130138662	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.886G>T; p.V296F; 23:130138662-130138662	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1452C>T; p.P484P; 23:130131784-130131784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.559C>A; p.L187M; 23:130147527-130147527	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.177C>T; p.G59G; 23:130155216-130155216	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.993C>T; p.P331P; 23:130137148-130137148	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.P331P; 23:130137148-130137148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.P331P; 23:130137148-130137148	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.P331P; 23:130137148-130137148	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.996G>T; p.E332D; 23:130137145-130137145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.993C>A; p.P331P; 23:130137148-130137148	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>A; p.P331P; 23:130137148-130137148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1651G>A; p.V551I; 23:130130077-130130077	pancreas	carcinoma	Substitution - Missense
c.1651G>A; p.V551I; 23:130130077-130130077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1767G>C; p.K589N; 23:130129620-130129620	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.173A>G; p.D58G; 23:130155220-130155220	liver	carcinoma	Substitution - Missense
c.842G>T; p.R281I; 23:130139799-130139799	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.173A>G; p.D58G; 23:130155220-130155220	liver	carcinoma	Substitution - Missense
c.1581G>A; p.E527E; 23:130130147-130130147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1645G>A; p.A549T; 23:130130083-130130083	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1758G>A; p.K586K; 23:130129970-130129970	skin	malignant_melanoma	Substitution - coding silent
c.327C>T; p.A109A; 23:130149479-130149479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.164C>T; p.S55F; 23:130155229-130155229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1185C>T; p.G395G; 23:130136153-130136153	skin	malignant_melanoma	Substitution - coding silent
c.1046T>C; p.M349T; 23:130137095-130137095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.260A>G; p.D87G; 23:130149546-130149546	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.260A>G; p.D87G; 23:130149546-130149546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.260A>G; p.D87G; 23:130149546-130149546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.68T>G; p.V23G; 23:130165589-130165589	breast	carcinoma	Substitution - Missense
c.1773T>A; p.G591G; 23:130129614-130129614	breast	carcinoma	Substitution - coding silent
c.794C>T; p.A265V; 23:130139847-130139847	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1198G>T; p.V400F; 23:130136140-130136140	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.20T>C; p.L7P; 23:130165637-130165637	liver	carcinoma	Substitution - Missense
c.1573C>T; p.R525*; 23:130130155-130130155	prostate	carcinoma	Substitution - Nonsense
c.899C>T; p.T300M; 23:130138649-130138649	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1708G>A; p.V570M; 23:130130020-130130020	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>A; p.A110T; 23:130149478-130149478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.33T>G; p.A11A; 23:130165624-130165624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1028A>T; p.Y343F; 23:130137113-130137113	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.195_197delCTT; p.F65delF; 23:130155196-130155198	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - In frame
c.1427C>T; p.S476L; 23:130133322-130133322	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1731C>G; p.I577M; 23:130129997-130129997	breast	carcinoma	Substitution - Missense
c.1360G>A; p.A454T; 23:130133389-130133389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1739G>A; p.R580Q; 23:130129989-130129989	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.451C>T; p.P151S; 23:130147763-130147763	skin	malignant_melanoma	Substitution - Missense
c.1766A>G; p.K589R; 23:130129621-130129621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1766A>G; p.K589R; 23:130129621-130129621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.269G>A; p.R90K; 23:130149537-130149537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1759-2A>G; p.?; 23:130129630-130129630	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.993C>G; p.P331P; 23:130137148-130137148	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1277G>T; p.R426L; 23:130136061-130136061	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.399T>G; p.I133M; 23:130147815-130147815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1452C>A; p.P484P; 23:130131784-130131784	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.822G>T; p.K274N; 23:130139819-130139819	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.567C>A; p.F189L; 23:130147519-130147519	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1236A>C; p.S412S; 23:130136102-130136102	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1336A>T; p.R446W; 23:130133413-130133413	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.988T>C; p.F330L; 23:130137153-130137153	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.111G>A; p.V37V; 23:130155282-130155282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.706G>C; p.D236H; 23:130140596-130140596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1632G>A; p.P544P; 23:130130096-130130096	oesophagus	carcinoma	Substitution - coding silent
c.893C>G; p.S298*; 23:130138655-130138655	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.485C>T; p.P162L; 23:130147601-130147601	prostate	adenoma	Substitution - Missense
c.240C>T; p.A80A; 23:130149566-130149566	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1771G>T; p.G591C; 23:130129616-130129616	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1780C>T; p.H594Y; 23:130129607-130129607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.880C>T; p.R294W; 23:130138668-130138668	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1120A>G; p.K374E; 23:130136675-130136675	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.261T>C; p.D87D; 23:130149545-130149545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261T>C; p.D87D; 23:130149545-130149545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261T>C; p.D87D; 23:130149545-130149545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.261T>C; p.D87D; 23:130149545-130149545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.261T>C; p.D87D; 23:130149545-130149545	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.524T>C; p.L175P; 23:130147562-130147562	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.524T>C; p.L175P; 23:130147562-130147562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation