Entrez Gene

Basic Information
Gene ID	2006
Name	ELN
Synonymous	elastin;ELN;elastin
Definition	tropoelastin
Position	7q11.23
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1297C>T; p.P433S; 7:74056417-74056417	skin	malignant_melanoma	Substitution - Missense
c.1465G>A; p.V489I; 7:74059936-74059936	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1495C>T; p.P499S; 7:74059966-74059966	skin	malignant_melanoma	Substitution - Missense
c.330T>C; p.A110A; 7:74042988-74042988	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1598A>G; p.K533R; 7:74060161-74060161	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1930G>A; p.A644T; 7:74063632-74063632	liver	carcinoma	Substitution - Missense
c.2127C>T; p.F709F; 7:74066772-74066772	skin	malignant_melanoma	Substitution - coding silent
c.1281C>T; p.P427P; 7:74056401-74056401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1741G>C; p.G581R; 7:74060495-74060495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1622-9T>G; p.?; 7:74060367-74060367	pancreas	carcinoma	Unknown
c.1419A>G; p.L473L; 7:74059890-74059890	skin	malignant_melanoma	Substitution - coding silent
c.18G>A; p.A6A; 7:74028205-74028205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1955T>G; p.V652G; 7:74063657-74063657	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.597A>C; p.Q199H; 7:74046721-74046721	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1150+2T>C; p.?; 7:74054771-74054771	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.771A>G; p.A257A; 7:74048528-74048528	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.660C>A; p.P220P; 7:74047691-74047691	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1357+1G>A; p.?; 7:74056714-74056714	skin	malignant_melanoma	Unknown
c.1468G>T; p.G490C; 7:74059939-74059939	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1994-3C>T; p.?; 7:74065691-74065691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.696C>T; p.P232P; 7:74048152-74048152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1153G>A; p.A385T; 7:74056273-74056273	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2031C>A; p.Y677*; 7:74065731-74065731	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.163+2T>A; p.?; 7:74036586-74036586	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1294G>A; p.V432I; 7:74056414-74056414	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1216G>A; p.G406S; 7:74056336-74056336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2067C>T; p.A689A; 7:74065978-74065978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.801T>A; p.G267G; 7:74051751-74051751	kidney	other; neoplasm	Substitution - coding silent
c.1708G>C; p.G570R; 7:74060462-74060462	central_nervous_system; brain	glioma	Substitution - Missense
c.871G>A; p.G291R; 7:74051821-74051821	skin	malignant_melanoma	Substitution - Missense
c.741G>T; p.G247G; 7:74048197-74048197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.801T>A; p.G267G; 7:74051751-74051751	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1951G>A; p.G651R; 7:74063653-74063653	skin	malignant_melanoma	Substitution - Missense
c.1415-9A>G; p.?; 7:74059877-74059877	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1264G>A; p.G422S; 7:74056384-74056384	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1383T>C; p.A461A; 7:74057665-74057665	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1300G>A; p.G434R; 7:74056420-74056420	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1252G>T; p.A418S; 7:74056372-74056372	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.753C>A; p.G251G; 7:74048510-74048510	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.466C>T; p.P156S; 7:74043917-74043917	skin	malignant_melanoma	Substitution - Missense
c.1318G>T; p.E440*; 7:74056674-74056674	thyroid	other; neoplasm	Substitution - Nonsense
c.271C>T; p.L91L; 7:74042652-74042652	skin	malignant_melanoma	Substitution - coding silent
c.1516G>A; p.G506R; 7:74059987-74059987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1312T>G; p.S438A; 7:74056432-74056432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.168G>T; p.L56L; 7:74037711-74037711	skin	malignant_melanoma	Substitution - coding silent
c.1972C>A; p.P658T; 7:74063674-74063674	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1444G>A; p.G482R; 7:74059915-74059915	skin	malignant_melanoma	Substitution - Missense
c.1682G>A; p.G561E; 7:74060436-74060436	skin	malignant_melanoma	Substitution - Missense
c.914C>T; p.A305V; 7:74051948-74051948	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.572G>A; p.G191E; 7:74046696-74046696	skin	malignant_melanoma	Substitution - Missense
c.1446A>G; p.G482G; 7:74059917-74059917	oesophagus	carcinoma	Substitution - coding silent
c.1443T>A; p.P481P; 7:74059914-74059914	breast	carcinoma	Substitution - coding silent
c.624C>A; p.I208I; 7:74046748-74046748	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080A>C; p.P360P; 7:74053293-74053293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1747+6G>A; p.?; 7:74060507-74060507	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.119G>A; p.G40E; 7:74035400-74035400	skin	malignant_melanoma	Substitution - Missense
c.1617G>A; p.Q539Q; 7:74060180-74060180	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.14C>T; p.T5M; 7:74028201-74028201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.418A>G; p.K140E; 7:74043159-74043159	breast	carcinoma	Substitution - Missense
c.481C>T; p.P161S; 7:74045233-74045233	skin	malignant_melanoma	Substitution - Missense
c.1568G>A; p.G523E; 7:74060039-74060039	skin	malignant_melanoma	Substitution - Missense
c.1537G>A; p.V513I; 7:74060008-74060008	skin	malignant_melanoma	Substitution - Missense
c.2148G>A; p.G716G; 7:74068673-74068673	skin	malignant_melanoma	Substitution - coding silent
c.2148G>A; p.G716G; 7:74068673-74068673	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2148G>A; p.G716G; 7:74068673-74068673	skin	malignant_melanoma	Substitution - coding silent
c.1537G>A; p.V513I; 7:74060008-74060008	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1632T>C; p.A544A; 7:74060386-74060386	liver	carcinoma	Substitution - coding silent
c.1415-1G>T; p.?; 7:74059885-74059885	skin	malignant_melanoma	Unknown
c.1381G>T; p.A461S; 7:74057663-74057663	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2168G>T; p.R723I; 7:74068693-74068693	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.165G>A; p.A55A; 7:74037708-74037708	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.165G>A; p.A55A; 7:74037708-74037708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.165G>A; p.A55A; 7:74037708-74037708	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - coding silent
c.2050G>T; p.G684C; 7:74065961-74065961	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>T; p.G358W; 7:74053285-74053285	skin	malignant_melanoma	Substitution - Missense
c.1957G>A; p.G653R; 7:74063659-74063659	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.711T>G; p.G237G; 7:74048167-74048167	thyroid	other; neoplasm	Substitution - coding silent
c.1942G>A; p.G648R; 7:74063644-74063644	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1942G>A; p.G648R; 7:74063644-74063644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1999C>T; p.P667S; 7:74065699-74065699	thyroid	other; neoplasm	Substitution - Missense
c.1942G>A; p.G648R; 7:74063644-74063644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1956C>T; p.V652V; 7:74063658-74063658	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.886G>A; p.A296T; 7:74051836-74051836	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.439C>T; p.P147S; 7:74043890-74043890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1907C>T; p.A636V; 7:74063358-74063358	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>C; p.G478R; 7:74059903-74059903	breast	carcinoma	Substitution - Missense
c.1432G>C; p.G478R; 7:74059903-74059903	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.644-5T>A; p.?; 7:74047670-74047670	liver	carcinoma	Unknown
c.773C>T; p.A258V; 7:74048530-74048530	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.644-5T>A; p.?; 7:74047670-74047670	liver	carcinoma	Unknown
c.1398C>T; p.A466A; 7:74057680-74057680	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410G>A; p.Q470Q; 7:74057692-74057692	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1410G>A; p.Q470Q; 7:74057692-74057692	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.755_756CC>TG; p.P252L; 7:74048512-74048513	skin	malignant_melanoma	Substitution - Missense
c.1672G>A; p.G558S; 7:74060426-74060426	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.208C>T; p.L70F; 7:74041227-74041227	skin	malignant_melanoma	Substitution - Missense
c.1217G>T; p.G406V; 7:74056337-74056337	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1012G>A; p.G338R; 7:74053225-74053225	skin	malignant_melanoma	Substitution - Missense
c.695_696CC>TT; p.P232L; 7:74048151-74048152	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.212C>T; p.A71V; 7:74041231-74041231	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1459C>T; p.P487S; 7:74059930-74059930	urinary_tract; bladder	carcinoma	Substitution - Missense
c.648C>T; p.G216G; 7:74047679-74047679	skin	malignant_melanoma	Substitution - coding silent
c.470G>A; p.G157E; 7:74045222-74045222	pancreas	NS	Substitution - Missense
c.468A>G; p.P156P; 7:74043919-74043919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.253G>A; p.V85I; 7:74042634-74042634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2145G>T; p.L715L; 7:74068670-74068670	skin	malignant_melanoma	Substitution - coding silent
c.343G>A; p.V115I; 7:74043001-74043001	breast	carcinoma	Substitution - Missense
c.289G>C; p.A97P; 7:74042670-74042670	breast	carcinoma	Substitution - Missense
c.204A>G; p.G68G; 7:74041223-74041223	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.133+6G>A; p.?; 7:74035420-74035420	stomach	adenocarcinoma	Unknown
c.88C>T; p.P30S; 7:74035369-74035369	skin	malignant_melanoma	Substitution - Missense
c.1168G>A; p.G390R; 7:74056288-74056288	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.490G>A; p.G164R; 7:74045242-74045242	skin	malignant_melanoma	Substitution - Missense
c.1620C>T; p.L540L; 7:74060183-74060183	skin	malignant_melanoma	Substitution - coding silent
c.237C>T; p.L79L; 7:74042618-74042618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.237C>T; p.L79L; 7:74042618-74042618	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1215C>T; p.P405P; 7:74056335-74056335	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.290C>A; p.A97D; 7:74042671-74042671	liver	carcinoma	Substitution - Missense
c.290C>A; p.A97D; 7:74042671-74042671	liver	carcinoma	Substitution - Missense
c.482C>A; p.P161H; 7:74045234-74045234	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.290C>A; p.A97D; 7:74042671-74042671	liver	carcinoma	Substitution - Missense
c.1981delG; p.G662fs*25; 7:74063683-74063683	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1059T>A; p.V353V; 7:74053272-74053272	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.567C>T; p.I189I; 7:74046213-74046213	skin	malignant_melanoma	Substitution - coding silent
c.2109C>T; p.F703F; 7:74066754-74066754	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1546G>A; p.A516T; 7:74060017-74060017	skin	malignant_melanoma	Substitution - Missense
c.313G>T; p.A105S; 7:74042694-74042694	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1274G>C; p.G425A; 7:74056394-74056394	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1417T>C; p.L473L; 7:74059888-74059888	skin	malignant_melanoma	Substitution - coding silent
c.234G>C; p.G78G; 7:74042615-74042615	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.629C>T; p.A210V; 7:74046753-74046753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.163+2T>G; p.?; 7:74036586-74036586	skin	malignant_melanoma	Unknown
c.8G>A; p.G3D; 7:74028195-74028195	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.250G>A; p.A84T; 7:74042631-74042631	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.748G>A; p.V250I; 7:74048505-74048505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.349G>A; p.G117R; 7:74043007-74043007	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.917C>T; p.A306V; 7:74051951-74051951	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1631_1632insC; p.G545fs*47; 7:74060385-74060386	oesophagus	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1317C>T; p.P439P; 7:74056673-74056673	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1317C>T; p.P439P; 7:74056673-74056673	breast	carcinoma	Substitution - coding silent
c.1150G>A; p.G384R; 7:74054769-74054769	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1307G>A; p.G436D; 7:74056427-74056427	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2113T>C; p.L705L; 7:74066758-74066758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.940G>T; p.A314S; 7:74051974-74051974	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.762A>G; p.A254A; 7:74048519-74048519	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.178G>C; p.G60R; 7:74037721-74037721	breast	carcinoma	Substitution - Missense
c.1718T>C; p.V573A; 7:74060472-74060472	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1806C>T; p.V602V; 7:74063172-74063172	skin	malignant_melanoma	Substitution - coding silent
c.1478C>T; p.P493L; 7:74059949-74059949	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.240C>T; p.G80G; 7:74042621-74042621	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1654G>A; p.G552R; 7:74060408-74060408	skin	malignant_melanoma	Substitution - Missense
c.993G>A; p.P331P; 7:74053206-74053206	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.290C>T; p.A97V; 7:74042671-74042671	breast	carcinoma	Substitution - Missense
c.798C>T; p.F266F; 7:74048555-74048555	skin	malignant_melanoma	Substitution - coding silent
c.1183C>T; p.P395S; 7:74056303-74056303	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.798C>T; p.F266F; 7:74048555-74048555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.212C>A; p.A71E; 7:74041231-74041231	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1020C>T; p.G340G; 7:74053233-74053233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1252G>A; p.A418T; 7:74056372-74056372	pancreas	NS	Substitution - Missense
c.365G>A; p.G122E; 7:74043023-74043023	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.253G>T; p.V85F; 7:74042634-74042634	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1576G>C; p.A526P; 7:74060047-74060047	prostate	carcinoma	Substitution - Missense
c.631C>G; p.P211A; 7:74046755-74046755	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>A; p.A264T; 7:74048547-74048547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1952G>C; p.G651A; 7:74063654-74063654	skin	malignant_melanoma	Substitution - Missense
c.1106C>T; p.S369L; 7:74054725-74054725	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1106C>T; p.S369L; 7:74054725-74054725	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.264G>A; p.P88P; 7:74042645-74042645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1565G>A; p.G522D; 7:74060036-74060036	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1339G>A; p.A447T; 7:74056695-74056695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1470T>C; p.G490G; 7:74059941-74059941	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.710G>A; p.G237D; 7:74048166-74048166	breast	carcinoma	Substitution - Missense
c.408G>T; p.V136V; 7:74043149-74043149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.586delG; p.G197fs*126; 7:74046710-74046710	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.199C>T; p.P67S; 7:74041218-74041218	skin	malignant_melanoma	Substitution - Missense
c.1993G>T; p.G665C; 7:74063695-74063695	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2056C>T; p.L686L; 7:74065967-74065967	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1945G>A; p.G649R; 7:74063647-74063647	skin	malignant_melanoma	Substitution - Missense
c.630C>G; p.A210A; 7:74046754-74046754	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1531C>T; p.P511S; 7:74060002-74060002	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1732C>T; p.P578S; 7:74060486-74060486	skin	malignant_melanoma	Substitution - Missense
c.2162G>A; p.R721Q; 7:74068687-74068687	large_intestine; colon	carcinoma	Substitution - Missense
c.2162G>A; p.R721Q; 7:74068687-74068687	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1622G>C; p.R541P; 7:74060376-74060376	skin	malignant_melanoma	Substitution - Missense
c.451C>A; p.P151T; 7:74043902-74043902	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense

COSMIC somatic mutation [Top]