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	10085
Symbol	EDIL3
Synonymous	DEL1
Full name	EGF-like repeats and discoidin I-like domains 3
Gene description	EGF-like repeat and discoidin I-like domain-containing protein 3\|developmental endothelial locus-1\|developmentally-regulated endothelial cell locus 1 protein\|integrin-binding protein DEL1
Cytoband	5q14
Gene type	protein-coding
Synonymous	MIM:606018; HGNC:HGNC:3173; Ensembl:ENSG00000164176; HPRD:09350; Vega:OTTHUMG00000119047

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.642G>A; p.P214P; 5:84106658-84106658	prostate	carcinoma	Substitution - coding silent
c.694C>A; p.Q232K; 5:84066564-84066564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.370G>A; p.E124K; 5:84137340-84137340	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.370G>A; p.E124K; 5:84137340-84137340	skin	malignant_melanoma	Substitution - Missense
c.370G>A; p.E124K; 5:84137340-84137340	skin	malignant_melanoma	Substitution - Missense
c.951G>A; p.S317S; 5:84064701-84064701	thyroid	other; neoplasm	Substitution - coding silent
c.553G>A; p.G185R; 5:84106747-84106747	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1308T>A; p.N436K; 5:83943554-83943554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.86A>G; p.N29S; 5:84254194-84254194	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1075G>A; p.D359N; 5:84060362-84060362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.196+5G>C; p.?; 5:84254079-84254079	kidney	other; neoplasm	Unknown
c.650A>G; p.Q217R; 5:84106650-84106650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.918T>G; p.T306T; 5:84064734-84064734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.259G>A; p.G87R; 5:84180489-84180489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.46G>T; p.G16C; 5:84384329-84384329	ovary	other; neoplasm	Substitution - Missense
c.118G>A; p.G40R; 5:84254162-84254162	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.935T>C; p.L312P; 5:84064717-84064717	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1194T>C; p.D398D; 5:83963304-83963304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1324C>G; p.H442D; 5:83943538-83943538	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.649C>T; p.Q217*; 5:84106651-84106651	skin	malignant_melanoma	Substitution - Nonsense
c.932T>G; p.L311R; 5:84064720-84064720	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.932T>G; p.L311R; 5:84064720-84064720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1362A>G; p.R454R; 5:83943500-83943500	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1382_1383GG>CA; p.W461S; 5:83943479-83943480	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11C>T; p.S4L; 5:84384364-84384364	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.478G>T; p.G160C; 5:84106822-84106822	urinary_tract; bladder	carcinoma	Substitution - Missense
c.249C>A; p.C83*; 5:84180499-84180499	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.553G>T; p.G185*; 5:84106747-84106747	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1438G>A; p.E480K; 5:83943424-83943424	NS	malignant_melanoma	Substitution - Missense
c.1438G>A; p.E480K; 5:83943424-83943424	NS	malignant_melanoma	Substitution - Missense
c.104G>A; p.G35D; 5:84254176-84254176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.975G>A; p.M325I; 5:84060462-84060462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.189G>A; p.V63V; 5:84254091-84254091	skin	malignant_melanoma	Substitution - coding silent
c.145G>A; p.E49K; 5:84254135-84254135	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.491T>G; p.I164S; 5:84106809-84106809	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.743T>C; p.I248T; 5:84066515-84066515	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1402A>T; p.T468S; 5:83943460-83943460	prostate	carcinoma	Substitution - Missense
c.857C>T; p.T286I; 5:84064795-84064795	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.567G>A; p.W189*; 5:84106733-84106733	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.13G>T; p.V5L; 5:84384362-84384362	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.47G>T; p.G16V; 5:84384328-84384328	liver	carcinoma	Substitution - Missense
c.47G>T; p.G16V; 5:84384328-84384328	liver	carcinoma	Substitution - Missense
c.196G>T; p.A66S; 5:84254084-84254084	skin; trunk	malignant_melanoma	Substitution - Missense
c.212A>G; p.E71G; 5:84229869-84229869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.25C>A; p.L9I; 5:84384350-84384350	pancreas	carcinoma	Substitution - Missense
c.1032C>A; p.L344L; 5:84060405-84060405	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.904C>T; p.R302*; 5:84064748-84064748	large_intestine; caecum	adenoma	Substitution - Nonsense
c.410T>G; p.L137R; 5:84137300-84137300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.571C>A; p.P191T; 5:84106729-84106729	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1349C>T; p.P450L; 5:83943513-83943513	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1138-4_1138-3insT; p.?; 5:83963363-83963364	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1028C>T; p.T343M; 5:84060409-84060409	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1028C>T; p.T343M; 5:84060409-84060409	parathyroid	adenoma	Substitution - Missense
c.1028C>T; p.T343M; 5:84060409-84060409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.861_862CC>TT; p.P288S; 5:84064790-84064791	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.814C>T; p.R272C; 5:84064838-84064838	skin	malignant_melanoma	Substitution - Missense
c.814C>T; p.R272C; 5:84064838-84064838	skin	malignant_melanoma	Substitution - Missense
c.814C>T; p.R272C; 5:84064838-84064838	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.540C>T; p.H180H; 5:84106760-84106760	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.814C>T; p.R272C; 5:84064838-84064838	skin	malignant_melanoma	Substitution - Missense
c.157G>T; p.G53C; 5:84254123-84254123	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1304G>A; p.G435E; 5:83943558-83943558	skin	malignant_melanoma	Substitution - Missense
c.1195T>G; p.F399V; 5:83963303-83963303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1394G>A; p.G465E; 5:83943468-83943468	skin	malignant_melanoma	Substitution - Missense
c.9C>T; p.R3R; 5:84384366-84384366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.815G>A; p.R272H; 5:84064837-84064837	breast	carcinoma	Substitution - Missense
c.619G>A; p.A207T; 5:84106681-84106681	skin; mucosal	malignant_melanoma	Substitution - Missense
c.559C>A; p.Q187K; 5:84106741-84106741	skin	malignant_melanoma	Substitution - Missense
c.48T>C; p.G16G; 5:84384327-84384327	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.559C>A; p.Q187K; 5:84106741-84106741	skin	malignant_melanoma	Substitution - Missense
c.1394G>T; p.G465V; 5:83943468-83943468	urinary_tract; bladder	carcinoma	Substitution - Missense
c.692C>T; p.T231I; 5:84066566-84066566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.712G>T; p.G238*; 5:84066546-84066546	liver	carcinoma	Substitution - Nonsense
c.560A>G; p.Q187R; 5:84106740-84106740	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.908G>T; p.R303I; 5:84064744-84064744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.614G>T; p.W205L; 5:84106686-84106686	skin	malignant_melanoma	Substitution - Missense
c.963G>A; p.E321E; 5:84060474-84060474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.56A>C; p.Q19P; 5:84384319-84384319	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.56A>C; p.Q19P; 5:84384319-84384319	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.708G>A; p.R236R; 5:84066550-84066550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.708G>A; p.R236R; 5:84066550-84066550	skin	malignant_melanoma	Substitution - coding silent
c.1319A>G; p.D440G; 5:83943543-83943543	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1370G>A; p.R457K; 5:83943492-83943492	urinary_tract; bladder	carcinoma	Substitution - Missense
c.583C>T; p.R195C; 5:84106717-84106717	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.372A>C; p.E124D; 5:84137338-84137338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.355+4A>C; p.?; 5:84180389-84180389	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1137G>A; p.Q379Q; 5:84060300-84060300	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.527C>A; p.A176D; 5:84106773-84106773	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.928G>A; p.E310K; 5:84064724-84064724	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.818G>A; p.G273E; 5:84064834-84064834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.990A>G; p.I330M; 5:84060447-84060447	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.585T>G; p.R195R; 5:84106715-84106715	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.945A>T; p.E315D; 5:84064707-84064707	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.486G>T; p.L162L; 5:84106814-84106814	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.351G>A; p.Q117Q; 5:84180397-84180397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1118A>G; p.D373G; 5:84060319-84060319	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.645G>A; p.W215*; 5:84106655-84106655	prostate	carcinoma	Substitution - Nonsense
c.404C>A; p.T135K; 5:84137306-84137306	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.651G>C; p.Q217H; 5:84106649-84106649	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.894C>T; p.P298P; 5:84064758-84064758	skin	malignant_melanoma	Substitution - coding silent
c.840A>G; p.P280P; 5:84064812-84064812	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9C>G; p.R3R; 5:84384366-84384366	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.645G>T; p.W215C; 5:84106655-84106655	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1092G>A; p.V364V; 5:84060345-84060345	skin	malignant_melanoma	Substitution - coding silent
c.1083A>C; p.Q361H; 5:84060354-84060354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1209G>T; p.Q403H; 5:83963289-83963289	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.352C>A; p.H118N; 5:84180396-84180396	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.538C>T; p.H180Y; 5:84106762-84106762	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.772G>T; p.A258S; 5:84066486-84066486	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.772G>T; p.A258S; 5:84066486-84066486	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.888C>T; p.L296L; 5:84064764-84064764	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.772G>T; p.A258S; 5:84066486-84066486	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.838C>T; p.P280S; 5:84064814-84064814	skin	malignant_melanoma	Substitution - Missense
c.1341C>T; p.I447I; 5:83943521-83943521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.652-10G>A; p.?; 5:84066616-84066616	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.484C>A; p.L162M; 5:84106816-84106816	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1361G>A; p.R454Q; 5:83943501-83943501	skin	malignant_melanoma	Substitution - Missense
c.1138-4delT; p.?; 5:83963364-83963364	stomach	adenocarcinoma	Unknown
c.584G>A; p.R195H; 5:84106716-84106716	stomach	adenocarcinoma	Substitution - Missense
c.611C>T; p.A204V; 5:84106689-84106689	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>A; p.R195H; 5:84106716-84106716	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>A; p.R195H; 5:84106716-84106716	skin	malignant_melanoma	Substitution - Missense
c.432G>A; p.E144E; 5:84137278-84137278	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329A>C; p.R443S; 5:83943533-83943533	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.54C>T; p.P18P; 5:84384321-84384321	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>A; p.Y464*; 5:83943470-83943470	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.848A>G; p.N283S; 5:84064804-84064804	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.167A>C; p.D56A; 5:84254113-84254113	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.226G>T; p.G76C; 5:84229855-84229855	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1031T>C; p.L344P; 5:84060406-84060406	ovary	carcinoma	Substitution - Missense
c.164C>A; p.T55K; 5:84254116-84254116	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.487G>A; p.G163R; 5:84106813-84106813	skin	malignant_melanoma	Substitution - Missense
c.1398G>C; p.R466S; 5:83943464-83943464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.743T>G; p.I248S; 5:84066515-84066515	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.160T>G; p.F54V; 5:84254120-84254120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.445T>A; p.F149I; 5:84137265-84137265	prostate	carcinoma	Substitution - Missense
c.1289_1293delATAAG; p.D430fs*7; 5:83963205-83963209	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.952G>A; p.G318S; 5:84064700-84064700	skin	malignant_melanoma	Substitution - Missense
c.286C>T; p.R96*; 5:84180462-84180462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.342T>G; p.I114M; 5:84180406-84180406	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.498T>G; p.G166G; 5:84106802-84106802	breast	carcinoma	Substitution - coding silent
c.394G>A; p.G132R; 5:84137316-84137316	skin	malignant_melanoma	Substitution - Missense
c.736T>C; p.Y246H; 5:84066522-84066522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905G>A; p.R302Q; 5:84064747-84064747	skin	malignant_melanoma	Substitution - Missense
c.905G>A; p.R302Q; 5:84064747-84064747	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871G>T; p.A291S; 5:84064781-84064781	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1393G>T; p.G465W; 5:83943469-83943469	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.904C>A; p.R302R; 5:84064748-84064748	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.100G>A; p.G34R; 5:84254180-84254180	skin	malignant_melanoma	Substitution - Missense
c.509C>G; p.S170*; 5:84106791-84106791	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.208G>A; p.E70K; 5:84229873-84229873	breast	carcinoma	Substitution - Missense
c.701C>T; p.A234V; 5:84066557-84066557	skin	malignant_melanoma	Substitution - Missense
c.952+1G>A; p.?; 5:84064699-84064699	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.850T>A; p.S284T; 5:84064802-84064802	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.922C>T; p.R308*; 5:84064730-84064730	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.980C>T; p.S327L; 5:84060457-84060457	skin	malignant_melanoma	Substitution - Missense
c.1191A>C; p.K397N; 5:83963307-83963307	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1000C>A; p.Q334K; 5:84060437-84060437	liver	carcinoma	Substitution - Missense
c.357C>T; p.N119N; 5:84137353-84137353	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.357C>T; p.N119N; 5:84137353-84137353	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.255T>C; p.N85N; 5:84180493-84180493	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.34G>A; p.G12R; 5:84384341-84384341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1336G>A; p.V446I; 5:83943526-83943526	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1360C>T; p.R454*; 5:83943502-83943502	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Nonsense
c.1139T>C; p.V380A; 5:83963359-83963359	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.166G>T; p.D56Y; 5:84254114-84254114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1134A>G; p.L378L; 5:84060303-84060303	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation