Entrez Gene

Basic Information
Gene ID	10516
Name	FBLN5

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.341G>T; p.R114L; 14:91936985-91936985	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.304C>T; p.P102S; 14:91937022-91937022	skin	malignant_melanoma	Substitution - Missense
c.639C>T; p.T213T; 14:91887293-91887293	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1180A>G; p.M394V; 14:91877492-91877492	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>G; p.I318M; 14:91881327-91881327	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.743T>C; p.M248T; 14:91883073-91883073	breast	carcinoma	Substitution - Missense
c.721G>A; p.D241N; 14:91887211-91887211	skin	malignant_melanoma	Substitution - Missense
c.1319G>A; p.R440Q; 14:91870252-91870252	skin	malignant_melanoma	Substitution - Missense
c.1061A>G; p.D354G; 14:91877611-91877611	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.652G>A; p.V218M; 14:91887280-91887280	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.780T>C; p.H260H; 14:91883036-91883036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.747C>T; p.D249D; 14:91883069-91883069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.747C>T; p.D249D; 14:91883069-91883069	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.149_150CC>TT; p.P50L; 14:91937176-91937177	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.332T>G; p.L111R; 14:91936994-91936994	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.T197I; 14:91891250-91891250	skin	malignant_melanoma	Substitution - Missense
c.1269C>T; p.I423I; 14:91870302-91870302	skin	malignant_melanoma	Substitution - coding silent
c.299C>G; p.S100*; 14:91937027-91937027	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.273G>A; p.P91P; 14:91937053-91937053	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - coding silent
c.273G>A; p.P91P; 14:91937053-91937053	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.730C>T; p.H244Y; 14:91887202-91887202	skin; trunk	malignant_melanoma	Substitution - Missense
c.799G>A; p.G267S; 14:91883017-91883017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.230G>A; p.R77Q; 14:91937096-91937096	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.230G>A; p.R77Q; 14:91937096-91937096	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.900C>T; p.N300N; 14:91881381-91881381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.379G>T; p.D127Y; 14:91936947-91936947	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.887delA; p.N296fs*30; 14:91881394-91881394	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.388G>A; p.E130K; 14:91895064-91895064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1015C>T; p.P339S; 14:91877657-91877657	skin	malignant_melanoma	Substitution - Missense
c.885G>A; p.R295R; 14:91881396-91881396	skin	malignant_melanoma	Substitution - coding silent
c.870C>T; p.N290N; 14:91881411-91881411	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.781G>C; p.E261Q; 14:91883035-91883035	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.361G>A; p.E121K; 14:91936965-91936965	skin	malignant_melanoma	Substitution - Missense
c.490G>A; p.G164S; 14:91894962-91894962	skin	malignant_melanoma	Substitution - Missense
c.560C>T; p.S187F; 14:91891280-91891280	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.566C>A; p.S189Y; 14:91891274-91891274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>T; p.E391*; 14:91877501-91877501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.973C>G; p.L325V; 14:91881308-91881308	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.840G>A; p.L280L; 14:91882976-91882976	skin	malignant_melanoma	Substitution - coding silent
c.333T>A; p.L111L; 14:91936993-91936993	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.957C>T; p.R319R; 14:91881324-91881324	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.974T>A; p.L325Q; 14:91881307-91881307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.660C>T; p.T220T; 14:91887272-91887272	skin	malignant_melanoma	Substitution - coding silent
c.368A>G; p.N123S; 14:91936958-91936958	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.472G>A; p.G158R; 14:91894980-91894980	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.992G>A; p.R331H; 14:91877680-91877680	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1016C>T; p.P339L; 14:91877656-91877656	skin; arm	malignant_melanoma	Substitution - Missense
c.642G>T; p.E214D; 14:91887290-91887290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.183C>T; p.N61N; 14:91937143-91937143	skin	malignant_melanoma	Substitution - coding silent
c.1287C>T; p.I429I; 14:91870284-91870284	skin	malignant_melanoma	Substitution - coding silent
c.862+1G>A; p.?; 14:91882953-91882953	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.81C>T; p.C27C; 14:91940608-91940608	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.825A>G; p.P275P; 14:91882991-91882991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1149C>T; p.I383I; 14:91877523-91877523	skin	malignant_melanoma	Substitution - coding silent
c.182A>G; p.N61S; 14:91937144-91937144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.298T>C; p.S100P; 14:91937028-91937028	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.298T>C; p.S100P; 14:91937028-91937028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>G; p.T28R; 14:91940606-91940606	liver	carcinoma	Substitution - Missense
c.862G>A; p.D288N; 14:91882954-91882954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.331C>G; p.L111V; 14:91936995-91936995	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1062C>T; p.D354D; 14:91877610-91877610	liver	carcinoma	Substitution - coding silent
c.1062C>T; p.D354D; 14:91877610-91877610	liver	carcinoma	Substitution - coding silent
c.229C>A; p.R77R; 14:91937097-91937097	liver	carcinoma	Substitution - coding silent
c.229C>A; p.R77R; 14:91937097-91937097	breast	carcinoma	Substitution - coding silent
c.498C>T; p.C166C; 14:91894954-91894954	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.508G>A; p.D170N; 14:91891332-91891332	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.680C>T; p.S227F; 14:91887252-91887252	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.289C>G; p.P97A; 14:91937037-91937037	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.801C>A; p.G267G; 14:91883015-91883015	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1304C>T; p.S435F; 14:91870267-91870267	skin	malignant_melanoma	Substitution - Missense
c.501A>C; p.L167F; 14:91894951-91894951	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.747C>G; p.D249E; 14:91883069-91883069	skin	malignant_melanoma	Substitution - Missense
c.747C>G; p.D249E; 14:91883069-91883069	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1041C>T; p.T347T; 14:91877631-91877631	skin	malignant_melanoma	Substitution - coding silent
c.358G>T; p.D120Y; 14:91936968-91936968	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1321A>T; p.I441L; 14:91870250-91870250	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.981C>T; p.I327I; 14:91881300-91881300	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.400G>A; p.D134N; 14:91895052-91895052	skin	malignant_melanoma	Substitution - Missense
c.103C>T; p.R35C; 14:91940586-91940586	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1075C>T; p.R359C; 14:91877597-91877597	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1075C>T; p.R359C; 14:91877597-91877597	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.704G>C; p.G235A; 14:91887228-91887228	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.229C>T; p.R77*; 14:91937097-91937097	skin	malignant_melanoma	Substitution - Nonsense
c.1072G>C; p.G358R; 14:91877600-91877600	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.726C>T; p.G242G; 14:91887206-91887206	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1092C>T; p.D364D; 14:91877580-91877580	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.313C>A; p.P105T; 14:91937013-91937013	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.358G>A; p.D120N; 14:91936968-91936968	skin	malignant_melanoma	Substitution - Missense
c.1113G>A; p.T371T; 14:91877559-91877559	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.727G>A; p.V243I; 14:91887205-91887205	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.684C>T; p.F228F; 14:91887248-91887248	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1226C>T; p.P409L; 14:91870345-91870345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.674A>T; p.Y225F; 14:91887258-91887258	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.756C>T; p.S252S; 14:91883060-91883060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.143C>T; p.T48I; 14:91937183-91937183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.272C>T; p.P91L; 14:91937054-91937054	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.272C>T; p.P91L; 14:91937054-91937054	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1027G>C; p.D343H; 14:91877645-91877645	skin	malignant_melanoma	Substitution - Missense
c.473G>A; p.G158E; 14:91894979-91894979	skin	malignant_melanoma	Substitution - Missense
c.246C>T; p.N82N; 14:91937080-91937080	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.299C>A; p.S100*; 14:91937027-91937027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.184C>G; p.Q62E; 14:91937142-91937142	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.447C>T; p.G149G; 14:91895005-91895005	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.447C>T; p.G149G; 14:91895005-91895005	skin	malignant_melanoma	Substitution - coding silent
c.964G>A; p.E322K; 14:91881317-91881317	skin	malignant_melanoma	Substitution - Missense
c.1227C>T; p.P409P; 14:91870344-91870344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.975G>A; p.L325L; 14:91881306-91881306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.318G>A; p.T106T; 14:91937008-91937008	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.150C>T; p.P50P; 14:91937176-91937176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1093A>G; p.I365V; 14:91877579-91877579	breast	carcinoma	Substitution - Missense
c.82A>T; p.T28S; 14:91940607-91940607	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.82A>T; p.T28S; 14:91940607-91940607	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.315C>T; p.P105P; 14:91937011-91937011	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.973C>A; p.L325M; 14:91881308-91881308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.973C>A; p.L325M; 14:91881308-91881308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.637A>G; p.T213A; 14:91887295-91887295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1076G>C; p.R359P; 14:91877596-91877596	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.628G>A; p.E210K; 14:91887304-91887304	skin	malignant_melanoma	Substitution - Missense

The somatic mutations from COSMIC database