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	6059
Symbol	ABCE1
Synonymous	ABC38\|OABP\|RLI\|RNASEL1\|RNASELI\|RNS4I
Full name	ATP-binding cassette, sub-family E (OABP), member 1
Gene description	2'-5'-oligoadenylate-binding protein\|ATP-binding cassette sub-family E member 1\|RNase L inhibitor\|huHP68\|ribonuclease 4 inhibitor\|ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) inhibitor
Cytoband	4q31
Gene type	protein-coding
Synonymous	MIM:601213; HGNC:HGNC:69; Ensembl:ENSG00000164163; HPRD:03132; Vega:OTTHUMG00000161478

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.81G>C; p.K27N; 4:145104493-145104493	breast	carcinoma	Substitution - Missense
c.1273C>T; p.R425C; 4:145123030-145123030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1273C>T; p.R425C; 4:145123030-145123030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1063delA; p.M357fs*6; 4:145120072-145120072	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.M357fs*6; 4:145120072-145120072	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1273C>T; p.R425C; 4:145123030-145123030	skin	malignant_melanoma	Substitution - Missense
c.1063delA; p.M357fs*6; 4:145120072-145120072	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.M357fs*6; 4:145120072-145120072	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.M357fs*6; 4:145120072-145120072	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.M357fs*6; 4:145120072-145120072	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1063delA; p.M357fs*6; 4:145120072-145120072	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.710+3A>G; p.?; 4:145111067-145111067	breast	carcinoma	Unknown
c.1643C>T; p.P548L; 4:145124992-145124992	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.450T>G; p.S150S; 4:145110147-145110147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1594G>A; p.V532I; 4:145123554-145123554	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.905C>T; p.P302L; 4:145117397-145117397	skin	malignant_melanoma	Substitution - Missense
c.1259C>T; p.S420L; 4:145121387-145121387	skin	malignant_melanoma	Substitution - Missense
c.674T>G; p.F225C; 4:145111028-145111028	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1150G>T; p.G384C; 4:145121179-145121179	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1141A>T; p.N381Y; 4:145120150-145120150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.920A>T; p.E307V; 4:145117412-145117412	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.920A>T; p.E307V; 4:145117412-145117412	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.708T>G; p.D236E; 4:145111062-145111062	prostate	adenoma	Substitution - Missense
c.1544C>T; p.A515V; 4:145123504-145123504	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.635G>A; p.R212Q; 4:145110989-145110989	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.320G>C; p.G107A; 4:145109164-145109164	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1538A>G; p.K513R; 4:145123498-145123498	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1788C>A; p.F596L; 4:145127561-145127561	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1788C>A; p.F596L; 4:145127561-145127561	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1788C>A; p.F596L; 4:145127561-145127561	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.120G>T; p.E40D; 4:145105621-145105621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.544G>A; p.G182R; 4:145110375-145110375	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.365T>A; p.I122N; 4:145109209-145109209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.588A>T; p.T196T; 4:145110419-145110419	liver	carcinoma	Substitution - coding silent
c.97C>T; p.R33*; 4:145104509-145104509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.60A>G; p.K20K; 4:145104472-145104472	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.97C>T; p.R33*; 4:145104509-145104509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.97C>T; p.R33*; 4:145104509-145104509	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.97C>T; p.R33*; 4:145104509-145104509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.118G>C; p.E40Q; 4:145105619-145105619	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.869A>G; p.Y290C; 4:145117361-145117361	breast	carcinoma	Substitution - Missense
c.657A>G; p.G219G; 4:145111011-145111011	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.248C>T; p.T83I; 4:145108073-145108073	skin; trunk	malignant_melanoma	Substitution - Missense
c.1795G>T; p.D599Y; 4:145127568-145127568	breast	carcinoma	Substitution - Missense
c.861C>T; p.C287C; 4:145117353-145117353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1048T>A; p.Y350N; 4:145120057-145120057	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.379C>A; p.Q127K; 4:145109223-145109223	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.1038T>C; p.C346C; 4:145120047-145120047	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.257G>A; p.R86Q; 4:145108082-145108082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.266C>T; p.A89V; 4:145108091-145108091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.142G>A; p.A48T; 4:145105643-145105643	skin; trunk	malignant_melanoma	Substitution - Missense
c.1001C>T; p.A334V; 4:145120010-145120010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.698A>C; p.Q233P; 4:145111052-145111052	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1521C>T; p.F507F; 4:145123481-145123481	skin	malignant_melanoma	Substitution - coding silent
c.1274G>A; p.R425H; 4:145123031-145123031	prostate	carcinoma	Substitution - Missense
c.1406G>C; p.R469P; 4:145123246-145123246	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1505G>A; p.R502Q; 4:145123345-145123345	central_nervous_system; brain	glioma	Substitution - Missense
c.1127T>C; p.V376A; 4:145120136-145120136	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1705G>A; p.D569N; 4:145125054-145125054	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1378_1387del10; p.Q460fs*8; 4:145123218-145123227	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.404A>T; p.D135V; 4:145109248-145109248	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1149G>A; p.T383T; 4:145121178-145121178	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1687G>A; p.E563K; 4:145125036-145125036	pancreas	carcinoma	Substitution - Missense
c.533A>G; p.K178R; 4:145110230-145110230	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1021G>T; p.E341*; 4:145120030-145120030	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1241A>G; p.Q414R; 4:145121369-145121369	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.293C>T; p.P98L; 4:145109137-145109137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.511C>T; p.Q171*; 4:145110208-145110208	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.511C>T; p.Q171*; 4:145110208-145110208	skin	malignant_melanoma	Substitution - Nonsense
c.1015_1017delGAA; p.E341delE; 4:145120024-145120026	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1219C>G; p.L407V; 4:145121347-145121347	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.298C>T; p.P100S; 4:145109142-145109142	skin	malignant_melanoma	Substitution - Missense
c.256C>T; p.R86*; 4:145108081-145108081	skin	malignant_melanoma	Substitution - Nonsense
c.1210G>A; p.V404I; 4:145121338-145121338	skin	malignant_melanoma	Substitution - Missense
c.1462C>G; p.P488A; 4:145123302-145123302	breast	carcinoma	Substitution - Missense
c.1586C>T; p.A529V; 4:145123546-145123546	breast	carcinoma	Substitution - Missense
c.356C>G; p.A119G; 4:145109200-145109200	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1144G>C; p.G382R; 4:145120153-145120153	prostate	carcinoma	Substitution - Missense
c.33C>T; p.V11V; 4:145104445-145104445	skin	malignant_melanoma	Substitution - coding silent
c.1600G>A; p.V534I; 4:145123560-145123560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.347A>T; p.K116M; 4:145109191-145109191	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.127C>T; p.P43S; 4:145105628-145105628	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1345C>T; p.L449L; 4:145123102-145123102	skin	malignant_melanoma	Substitution - coding silent
c.1051C>A; p.P351T; 4:145120060-145120060	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.115A>G; p.I39V; 4:145105616-145105616	liver	carcinoma	Substitution - Missense
c.625C>T; p.L209L; 4:145110979-145110979	skin	malignant_melanoma	Substitution - coding silent
c.115A>G; p.I39V; 4:145105616-145105616	liver	carcinoma	Substitution - Missense
c.932delT; p.L313fs*10; 4:145119941-145119941	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1264-1G>A; p.?; 4:145123020-145123020	skin	malignant_melanoma	Unknown
c.442C>T; p.R148C; 4:145110139-145110139	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.R148C; 4:145110139-145110139	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.R148C; 4:145110139-145110139	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.547A>G; p.T183A; 4:145110378-145110378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.547A>G; p.T183A; 4:145110378-145110378	breast	carcinoma	Substitution - Missense
c.294delT; p.I99fs*10; 4:145109138-145109138	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.294delT; p.I99fs*10; 4:145109138-145109138	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.198C>T; p.P66P; 4:145108023-145108023	skin	malignant_melanoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation