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	1889
Symbol	ECE1
Synonymous	ECE
Full name	endothelin converting enzyme 1
Gene description	ECE-1\|endothelin-converting enzyme 1
Cytoband	1p36.1
Gene type	protein-coding
Synonymous	MIM:600423; HGNC:HGNC:3146; Ensembl:ENSG00000117298; HPRD:02690; Vega:OTTHUMG00000002625

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1406T>C; p.L469P; 1:21236828-21236828	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2182A>C; p.I728L; 1:21220086-21220086	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.582C>T; p.L194L; 1:21260304-21260304	breast	carcinoma	Substitution - coding silent
c.547C>T; p.R183C; 1:21260339-21260339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1518C>G; p.Y506*; 1:21235898-21235898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1960G>A; p.V654M; 1:21225330-21225330	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1736C>T; p.P579L; 1:21227976-21227976	skin; neck	malignant_melanoma	Substitution - Missense
c.1850-5C>T; p.?; 1:21225445-21225445	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Unknown
c.304G>A; p.E102K; 1:21272888-21272888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.622G>T; p.G208C; 1:21258833-21258833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1772C>A; p.S591Y; 1:21227940-21227940	breast	carcinoma	Substitution - Missense
c.1769G>A; p.R590H; 1:21227943-21227943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.648C>A; p.A216A; 1:21258807-21258807	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.387C>A; p.A129A; 1:21272805-21272805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.248G>T; p.C83F; 1:21279223-21279223	skin	malignant_melanoma	Substitution - Missense
c.1933A>G; p.M645V; 1:21225357-21225357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1966G>A; p.G656R; 1:21225324-21225324	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1226G>A; p.R409H; 1:21245041-21245041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1226G>A; p.R409H; 1:21245041-21245041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.419C>T; p.P140L; 1:21272773-21272773	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1092C>T; p.S364S; 1:21247292-21247292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1566C>T; p.D522D; 1:21235850-21235850	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.555C>G; p.C185W; 1:21260331-21260331	liver	carcinoma	Substitution - Missense
c.1160G>A; p.R387K; 1:21247224-21247224	ovary	other; neoplasm	Substitution - Missense
c.1164-5C>T; p.?; 1:21245108-21245108	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.396_397insG; p.W133fs*9; 1:21272795-21272796	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.883G>A; p.G295R; 1:21256084-21256084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1561A>T; p.N521Y; 1:21235855-21235855	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1019_1020+20del22; p.?; 1:21255927-21255948	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1411A>G; p.I471V; 1:21236823-21236823	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1443C>T; p.T481T; 1:21236791-21236791	NS	malignant_melanoma	Substitution - coding silent
c.1443C>T; p.T481T; 1:21236791-21236791	NS	malignant_melanoma	Substitution - coding silent
c.115G>A; p.D39N; 1:21290093-21290093	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2081C>T; p.S694L; 1:21221802-21221802	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1818C>T; p.G606G; 1:21227190-21227190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2301C>T; p.C767C; 1:21219967-21219967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1306G>T; p.V436L; 1:21238217-21238217	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2046C>T; p.Y682Y; 1:21221837-21221837	skin	malignant_melanoma	Substitution - coding silent
c.10G>A; p.V4M; 1:21290405-21290405	liver	carcinoma	Substitution - Missense
c.574G>A; p.E192K; 1:21260312-21260312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.185G>A; p.R62Q; 1:21279286-21279286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1213T>G; p.F405V; 1:21245054-21245054	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.941T>C; p.L314P; 1:21256026-21256026	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1488+2T>G; p.?; 1:21236744-21236744	breast	carcinoma	Unknown
c.1882C>T; p.P628S; 1:21225408-21225408	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1814T>C; p.V605A; 1:21227194-21227194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.694C>T; p.R232C; 1:21258761-21258761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.931G>C; p.E311Q; 1:21256036-21256036	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2225C>T; p.S742F; 1:21220043-21220043	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1880G>T; p.R627L; 1:21225410-21225410	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2108A>G; p.N703S; 1:21221775-21221775	breast	carcinoma	Substitution - Missense
c.748A>T; p.S250C; 1:21258707-21258707	skin; hand	malignant_melanoma	Substitution - Missense
c.2038C>T; p.R680W; 1:21225252-21225252	skin	malignant_melanoma	Substitution - Missense
c.1330G>T; p.G444C; 1:21238193-21238193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1589A>G; p.Y530C; 1:21233639-21233639	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1698C>T; p.N566N; 1:21228014-21228014	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2259C>G; p.F753L; 1:21220009-21220009	breast	carcinoma	Substitution - Missense
c.1698C>T; p.N566N; 1:21228014-21228014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1073C>T; p.P358L; 1:21247311-21247311	skin	malignant_melanoma	Substitution - Missense
c.434G>A; p.R145H; 1:21272758-21272758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1852C>T; p.R618W; 1:21225438-21225438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.685G>A; p.A229T; 1:21258770-21258770	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1278+1G>A; p.?; 1:21244988-21244988	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1982G>T; p.G661V; 1:21225308-21225308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1467C>T; p.T489T; 1:21236767-21236767	skin	malignant_melanoma	Substitution - coding silent
c.1870G>A; p.G624R; 1:21225420-21225420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>A; p.E643K; 1:21225363-21225363	breast	carcinoma	Substitution - Missense
c.1870G>A; p.G624R; 1:21225420-21225420	skin	malignant_melanoma	Substitution - Missense
c.1781A>C; p.K594T; 1:21227931-21227931	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>A; p.V171M; 1:21260375-21260375	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.548G>A; p.R183H; 1:21260338-21260338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2113C>T; p.L705F; 1:21221770-21221770	skin	malignant_melanoma	Substitution - Missense
c.1338G>T; p.A446A; 1:21238185-21238185	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1819C>T; p.H607Y; 1:21227189-21227189	skin; mucosal	malignant_melanoma	Substitution - Missense
c.421G>A; p.D141N; 1:21272771-21272771	breast	carcinoma	Substitution - Missense
c.1882C>A; p.P628T; 1:21225408-21225408	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2147C>T; p.S716F; 1:21220121-21220121	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1469G>A; p.R490Q; 1:21236765-21236765	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1341G>A; p.L447L; 1:21238182-21238182	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1623A>G; p.S541S; 1:21233605-21233605	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1923G>A; p.Q641Q; 1:21225367-21225367	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1136C>T; p.S379F; 1:21247248-21247248	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>T; p.S379F; 1:21247248-21247248	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1594G>A; p.E532K; 1:21233634-21233634	skin	malignant_melanoma	Substitution - Missense
c.2173G>A; p.E725K; 1:21220095-21220095	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2302G>A; p.E768K; 1:21219966-21219966	skin	malignant_melanoma	Substitution - Missense
c.882C>T; p.G294G; 1:21256085-21256085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1903G>A; p.V635M; 1:21225387-21225387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2307C>A; p.V769V; 1:21219961-21219961	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1369G>A; p.A457T; 1:21238154-21238154	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1530C>T; p.I510I; 1:21235886-21235886	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2041G>A; p.A681T; 1:21221842-21221842	skin	malignant_melanoma	Substitution - Missense
c.211G>A; p.V71M; 1:21279260-21279260	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1452G>A; p.W484*; 1:21236782-21236782	prostate	carcinoma	Substitution - Nonsense
c.2206C>T; p.R736C; 1:21220062-21220062	skin	malignant_melanoma	Substitution - Missense
c.935C>T; p.T312M; 1:21256032-21256032	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1893G>T; p.K631N; 1:21225397-21225397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2032G>T; p.A678S; 1:21225258-21225258	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.708C>T; p.F236F; 1:21258747-21258747	skin	malignant_melanoma	Substitution - coding silent
c.708C>T; p.F236F; 1:21258747-21258747	skin	malignant_melanoma	Substitution - coding silent
c.590A>G; p.K197R; 1:21260296-21260296	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1385G>T; p.S462I; 1:21238138-21238138	central_nervous_system; brain	glioma	Substitution - Missense
c.943G>A; p.A315T; 1:21256024-21256024	breast	carcinoma	Substitution - Missense
c.839G>T; p.G280V; 1:21256128-21256128	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.312T>C; p.C104C; 1:21272880-21272880	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1288C>T; p.P430S; 1:21238235-21238235	skin	malignant_melanoma	Substitution - Missense
c.1288C>T; p.P430S; 1:21238235-21238235	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1369G>T; p.A457S; 1:21238154-21238154	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.426C>T; p.G142G; 1:21272766-21272766	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1155C>T; p.T385T; 1:21247229-21247229	thyroid	other; neoplasm	Substitution - coding silent
c.1198C>T; p.R400W; 1:21245069-21245069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1153A>C; p.T385P; 1:21247231-21247231	breast	carcinoma	Substitution - Missense
c.1526T>G; p.F509C; 1:21235890-21235890	skin	malignant_melanoma	Substitution - Missense
c.1527C>T; p.F509F; 1:21235889-21235889	skin	malignant_melanoma	Substitution - coding silent
c.1527C>T; p.F509F; 1:21235889-21235889	skin	malignant_melanoma	Substitution - coding silent
c.365G>A; p.C122Y; 1:21272827-21272827	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2237C>T; p.S746F; 1:21220031-21220031	skin	malignant_melanoma	Substitution - Missense
c.1872G>A; p.G624G; 1:21225418-21225418	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1999G>A; p.E667K; 1:21225291-21225291	skin	malignant_melanoma	Substitution - Missense
c.1215C>T; p.F405F; 1:21245052-21245052	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1737G>A; p.P579P; 1:21227975-21227975	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.164G>A; p.G55D; 1:21279307-21279307	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2212C>T; p.R738W; 1:21220056-21220056	skin	malignant_melanoma	Substitution - Missense
c.492C>T; p.L164L; 1:21272700-21272700	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1337C>T; p.A446V; 1:21238186-21238186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2261G>A; p.R754H; 1:21220007-21220007	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1812C>T; p.V604V; 1:21227196-21227196	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.248G>A; p.C83Y; 1:21279223-21279223	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.616-1G>T; p.?; 1:21258840-21258840	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1213T>C; p.F405L; 1:21245054-21245054	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1396G>A; p.E466K; 1:21236838-21236838	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1396G>A; p.E466K; 1:21236838-21236838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1396G>A; p.E466K; 1:21236838-21236838	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1505A>G; p.N502S; 1:21235911-21235911	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1976T>G; p.V659G; 1:21225314-21225314	skin	malignant_melanoma	Substitution - Missense
c.2102C>T; p.T701I; 1:21221781-21221781	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1368C>T; p.F456F; 1:21238155-21238155	skin	malignant_melanoma	Substitution - coding silent
c.1025T>C; p.L342S; 1:21247359-21247359	thyroid	carcinoma	Substitution - Missense
c.303C>T; p.S101S; 1:21272889-21272889	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2011G>A; p.D671N; 1:21225279-21225279	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.583A>G; p.R195G; 1:21260303-21260303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2307C>T; p.V769V; 1:21219961-21219961	skin	malignant_melanoma	Substitution - coding silent
c.879C>T; p.G293G; 1:21256088-21256088	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1901C>T; p.S634F; 1:21225389-21225389	skin	malignant_melanoma	Substitution - Missense
c.1173C>T; p.N391N; 1:21245094-21245094	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.710_712delTCT; p.F237delF; 1:21258743-21258745	breast	carcinoma	Deletion - In frame

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation