Entrez Gene

Basic Information
Gene ID	4976
Name	OPA1
Synonymous	optic atrophy 1 (autosomal dominant);OPA1;optic atrophy 1 (autosomal dominant)
Definition	dynamin-like 120 kDa protein, mitochondrial\|dynamin-like guanosine triphosphatase\|mitochondrial dynamin-like GTPase\|optic atrophy protein 1
Position	3q29
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.380C>T; p.P127L; 3:193615702-193615702	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1504A>G; p.I502V; 3:193644001-193644001	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2813T>C; p.I938T; 3:193666330-193666330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.327_328insG; p.G112fs*9; 3:193615017-193615018	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1726G>C; p.E576Q; 3:193645772-193645772	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2271G>T; p.E757D; 3:193657172-193657172	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2047G>T; p.V683L; 3:193654896-193654896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952T>C; p.S318P; 3:193637198-193637198	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.953C>T; p.S318F; 3:193637199-193637199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2210C>T; p.S737F; 3:193657111-193657111	skin	malignant_melanoma	Substitution - Missense
c.2320G>A; p.E774K; 3:193657221-193657221	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.830T>C; p.L277P; 3:193631652-193631652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1169C>T; p.P390L; 3:193642784-193642784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2702T>G; p.L901*; 3:193664920-193664920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.470C>T; p.P157L; 3:193617199-193617199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2063T>C; p.I688T; 3:193654912-193654912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1866C>A; p.F622L; 3:193647176-193647176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.253C>T; p.R85C; 3:193614943-193614943	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1498C>T; p.R500C; 3:193643995-193643995	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1498C>T; p.R500C; 3:193643995-193643995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1767A>G; p.L589L; 3:193647077-193647077	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2677C>T; p.H893Y; 3:193664895-193664895	bone; ilium	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2372C>T; p.S791F; 3:193658927-193658927	skin	malignant_melanoma	Substitution - Missense
c.1380T>C; p.T460T; 3:193643530-193643530	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1906A>G; p.N636D; 3:193648105-193648105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1278G>A; p.V426V; 3:193643022-193643022	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.869G>A; p.R290Q; 3:193635443-193635443	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.967T>G; p.Y323D; 3:193637213-193637213	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>A; p.R216H; 3:193618905-193618905	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1969C>T; p.L657F; 3:193648828-193648828	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.526C>T; p.L176F; 3:193617255-193617255	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.113G>A; p.R38Q; 3:193614803-193614803	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.113G>A; p.R38Q; 3:193614803-193614803	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.212G>A; p.R71H; 3:193614902-193614902	pancreas	carcinoma	Substitution - Missense
c.630G>A; p.A210A; 3:193618888-193618888	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2617C>T; p.R873W; 3:193662918-193662918	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2033C>A; p.S678Y; 3:193654882-193654882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1634T>G; p.L545R; 3:193645578-193645578	liver	carcinoma	Substitution - Missense
c.2332-2A>G; p.?; 3:193658885-193658885	liver	carcinoma	Unknown
c.2746T>C; p.Y916H; 3:193664964-193664964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1289G>A; p.C430Y; 3:193643033-193643033	central_nervous_system; brain	glioma	Substitution - Missense
c.473G>A; p.S158N; 3:193617202-193617202	breast	carcinoma	Substitution - Missense
c.2946G>A; p.L982L; 3:193667243-193667243	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1772C>T; p.A591V; 3:193647082-193647082	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.1915C>T; p.R639C; 3:193648114-193648114	breast	carcinoma	Substitution - Missense
c.301C>T; p.R101C; 3:193614991-193614991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2257G>C; p.D753H; 3:193657158-193657158	breast	carcinoma	Substitution - Missense
c.2472A>T; p.P824P; 3:193659513-193659513	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2147C>T; p.T716I; 3:193654996-193654996	urinary_tract; bladder	carcinoma	Substitution - Missense
c.464C>T; p.A155V; 3:193617193-193617193	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2569A>G; p.N857D; 3:193662870-193662870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191C>A; p.S64Y; 3:193614881-193614881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1312T>A; p.S438T; 3:193643379-193643379	large_intestine; colon	carcinoma	Substitution - Missense
c.790-1G>T; p.?; 3:193631611-193631611	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1312T>A; p.S438T; 3:193643379-193643379	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>A; p.M465I; 3:193643545-193643545	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2232A>C; p.K744N; 3:193657133-193657133	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.617C>T; p.P206L; 3:193618875-193618875	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2810G>A; p.R937H; 3:193666327-193666327	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.509A>G; p.D170G; 3:193617238-193617238	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3005delA; p.K1003fs*>13; 3:193692084-193692084	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2318C>T; p.A773V; 3:193657219-193657219	thyroid	carcinoma	Substitution - Missense
c.762C>G; p.S254R; 3:193626175-193626175	breast	carcinoma	Substitution - Missense
c.309C>T; p.L103L; 3:193614999-193614999	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.352-3T>A; p.?; 3:193615671-193615671	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1446G>C; p.Q482H; 3:193643596-193643596	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1591G>T; p.V531L; 3:193644088-193644088	breast	carcinoma	Substitution - Missense
c.1211A>T; p.D404V; 3:193642826-193642826	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1988T>C; p.L663P; 3:193648847-193648847	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.653C>T; p.S218F; 3:193618911-193618911	skin	malignant_melanoma	Substitution - Missense
c.2786G>C; p.C929S; 3:193666303-193666303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.818T>G; p.L273R; 3:193631640-193631640	liver	carcinoma	Substitution - Missense
c.818T>G; p.L273R; 3:193631640-193631640	liver	carcinoma	Substitution - Missense
c.802G>T; p.E268*; 3:193631624-193631624	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1860T>C; p.D620D; 3:193647170-193647170	liver	carcinoma	Substitution - coding silent
c.1720G>T; p.E574*; 3:193645766-193645766	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1538A>G; p.H513R; 3:193644035-193644035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1752A>G; p.L584L; 3:193645798-193645798	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2666A>C; p.K889T; 3:193664884-193664884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2228C>T; p.P743L; 3:193657129-193657129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1949A>G; p.E650G; 3:193648808-193648808	liver	carcinoma	Substitution - Missense
c.1092C>G; p.A364A; 3:193638008-193638008	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2878C>T; p.R960*; 3:193667175-193667175	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.96A>G; p.K32K; 3:193614786-193614786	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2229G>T; p.P743P; 3:193657130-193657130	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.449-2A>G; p.?; 3:193617176-193617176	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.850T>G; p.Y284D; 3:193635424-193635424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.865G>A; p.E289K; 3:193635439-193635439	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1261C>A; p.R421R; 3:193643005-193643005	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1342A>G; p.R448G; 3:193643409-193643409	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.17G>T; p.R6L; 3:193593394-193593394	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2274T>C; p.A758A; 3:193657175-193657175	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.878_880delAGG; p.E294delE; 3:193635452-193635454	breast	carcinoma	Deletion - In frame
c.2370A>G; p.I790M; 3:193658925-193658925	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2208T>G; p.F736L; 3:193657109-193657109	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2370A>G; p.I790M; 3:193658925-193658925	liver	carcinoma	Substitution - Missense
c.979C>A; p.L327I; 3:193637225-193637225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1576C>T; p.L526L; 3:193644073-193644073	skin	malignant_melanoma	Substitution - coding silent
c.1334G>T; p.G445V; 3:193643401-193643401	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1823G>T; p.W608L; 3:193647133-193647133	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.433G>T; p.E145*; 3:193615755-193615755	liver	carcinoma	Substitution - Nonsense
c.2431C>T; p.L811F; 3:193658986-193658986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2296C>T; p.R766*; 3:193657197-193657197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2478_2479insA; p.R829fs*17; 3:193659519-193659520	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.557-3C>G; p.?; 3:193617781-193617781	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1099C>T; p.R367*; 3:193638015-193638015	breast	carcinoma	Substitution - Nonsense
c.1099C>T; p.R367*; 3:193638015-193638015	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.812A>G; p.D271G; 3:193631634-193631634	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_II	Substitution - Missense
c.2854C>A; p.Q952K; 3:193666371-193666371	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2696_2697insT; p.L901fs*9; 3:193664914-193664915	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1202G>T; p.R401L; 3:193642817-193642817	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2795T>A; p.V932E; 3:193666312-193666312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.690T>G; p.G230G; 3:193626103-193626103	breast	carcinoma	Substitution - coding silent
c.111A>G; p.S37S; 3:193614801-193614801	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.110C>T; p.S37L; 3:193614800-193614800	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921C>T; p.R641W; 3:193648120-193648120	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1497A>G; p.E499E; 3:193643994-193643994	large_intestine; colon	adenoma	Substitution - coding silent
c.950A>G; p.K317R; 3:193637196-193637196	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2626C>G; p.L876V; 3:193662927-193662927	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1763T>C; p.M588T; 3:193647073-193647073	breast	carcinoma	Substitution - Missense
c.785G>A; p.R262H; 3:193626198-193626198	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.225C>A; p.F75L; 3:193614915-193614915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1469G>T; p.C490F; 3:193643619-193643619	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.211C>T; p.R71C; 3:193614901-193614901	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2920G>A; p.E974K; 3:193667217-193667217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.444T>G; p.D148E; 3:193615766-193615766	liver	carcinoma	Substitution - Missense
c.444T>G; p.D148E; 3:193615766-193615766	liver	carcinoma	Substitution - Missense
c.909G>A; p.L303L; 3:193635483-193635483	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.412G>A; p.D138N; 3:193615734-193615734	bone; pelvis	chondrosarcoma	Substitution - Missense
c.294A>G; p.L98L; 3:193614984-193614984	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2088G>T; p.A696A; 3:193654937-193654937	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.655G>A; p.E219K; 3:193618913-193618913	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.32+1G>A; p.?; 3:193593410-193593410	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2103A>T; p.S701S; 3:193654952-193654952	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.496G>C; p.A166P; 3:193617225-193617225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1980T>C; p.V660V; 3:193648839-193648839	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1837G>C; p.E613Q; 3:193647147-193647147	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1837G>C; p.E613Q; 3:193647147-193647147	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]