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	133522
Symbol	PPARGC1B
Synonymous	ERRL1\|PERC\|PGC-1(beta)\|PGC1B
Full name	peroxisome proliferator-activated receptor gamma, coactivator 1 beta
Gene description	PGC-1-related estrogen receptor alpha coactivator\|PPAR-gamma coactivator 1-beta\|PPARGC-1-beta\|peroxisome proliferator-activated receptor gamma coactivator 1-beta
Cytoband	5q32
Gene type	protein-coding
Synonymous	MIM:608886; HGNC:HGNC:30022; Ensembl:ENSG00000155846; HPRD:10594; Vega:OTTHUMG00000130055

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2938C>T; p.R980W; 5:149845881-149845881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.431C>T; p.S144L; 5:149826851-149826851	breast	carcinoma	Substitution - Missense
c.955C>T; p.P319S; 5:149833028-149833028	skin	malignant_melanoma	Substitution - Missense
c.1284G>A; p.Q428Q; 5:149833357-149833357	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1993C>T; p.L665L; 5:149836448-149836448	skin	malignant_melanoma	Substitution - coding silent
c.2199G>T; p.Q733H; 5:149836654-149836654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1257G>T; p.E419D; 5:149833330-149833330	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2859C>T; p.H953H; 5:149845802-149845802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.568C>T; p.R190W; 5:149830869-149830869	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1726C>A; p.L576M; 5:149834694-149834694	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.759C>G; p.D253E; 5:149832832-149832832	breast	carcinoma	Substitution - Missense
c.2370_2371delTG; p.V791fs*2; 5:149836825-149836826	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.393C>T; p.P131P; 5:149826813-149826813	skin	malignant_melanoma	Substitution - coding silent
c.2579C>A; p.P860H; 5:149837034-149837034	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.717T>C; p.S239S; 5:149832790-149832790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2477G>C; p.G826A; 5:149836932-149836932	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2605C>T; p.R869*; 5:149837060-149837060	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.205G>C; p.E69Q; 5:149820559-149820559	NS	NS	Substitution - Missense
c.1335_1336insGAG; p.E450_W451insE; 5:149833408-149833409	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.3049G>A; p.E1017K; 5:149847535-149847535	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2651C>T; p.T884M; 5:149840073-149840073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.555A>T; p.R185S; 5:149830856-149830856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2077G>T; p.D693Y; 5:149836532-149836532	skin	malignant_melanoma	Substitution - Missense
c.2158G>A; p.E720K; 5:149836613-149836613	skin	malignant_melanoma	Substitution - Missense
c.1886G>T; p.G629V; 5:149836341-149836341	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.75G>A; p.T25T; 5:149730417-149730417	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1911C>A; p.P637P; 5:149836366-149836366	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1886G>T; p.G629V; 5:149836341-149836341	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2883C>T; p.G961G; 5:149845826-149845826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2464G>T; p.E822*; 5:149836919-149836919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1921G>T; p.G641C; 5:149836376-149836376	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2837_2838TC>AT; p.I946N; 5:149845780-149845781	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2282G>A; p.R761H; 5:149836737-149836737	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2652G>A; p.T884T; 5:149840074-149840074	prostate	carcinoma	Substitution - coding silent
c.1114C>T; p.R372W; 5:149833187-149833187	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1951G>T; p.A651S; 5:149836406-149836406	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.163G>A; p.A55T; 5:149820517-149820517	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2911T>A; p.S971T; 5:149845854-149845854	skin	malignant_melanoma	Substitution - Missense
c.2768A>G; p.E923G; 5:149842329-149842329	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.631C>T; p.R211*; 5:149832704-149832704	breast	carcinoma	Substitution - Nonsense
c.1870A>T; p.I624F; 5:149836325-149836325	meninges	meningioma; haemangiopericytic	Substitution - Missense
c.2542C>A; p.L848I; 5:149836997-149836997	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.931C>T; p.P311S; 5:149833004-149833004	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1488G>A; p.P496P; 5:149833561-149833561	ovary	other; neoplasm	Substitution - coding silent
c.2521_2522CC>TT; p.P841L; 5:149836976-149836977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.485C>T; p.A162V; 5:149830786-149830786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.663C>G; p.T221T; 5:149832736-149832736	liver	carcinoma	Substitution - coding silent
c.663C>G; p.T221T; 5:149832736-149832736	liver	carcinoma	Substitution - coding silent
c.2146G>T; p.G716W; 5:149836601-149836601	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.172T>G; p.F58V; 5:149820526-149820526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1982G>A; p.R661Q; 5:149836437-149836437	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1669G>A; p.D557N; 5:149833742-149833742	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.979C>T; p.P327S; 5:149833052-149833052	skin	malignant_melanoma	Substitution - Missense
c.980C>T; p.P327L; 5:149833053-149833053	skin	malignant_melanoma	Substitution - Missense
c.2929G>A; p.G977R; 5:149845872-149845872	ovary	other; neoplasm	Substitution - Missense
c.1288G>C; p.E430Q; 5:149833361-149833361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1433G>T; p.R478L; 5:149833506-149833506	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2453A>G; p.E818G; 5:149836908-149836908	kidney	other; neoplasm	Substitution - Missense
c.2359G>C; p.E787Q; 5:149836814-149836814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2453A>G; p.E818G; 5:149836908-149836908	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2680C>T; p.R894W; 5:149840102-149840102	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2680C>T; p.R894W; 5:149840102-149840102	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.532G>C; p.A178P; 5:149830833-149830833	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1164G>A; p.P388P; 5:149833237-149833237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1164G>A; p.P388P; 5:149833237-149833237	thyroid	other; neoplasm	Substitution - coding silent
c.2069G>T; p.G690V; 5:149836524-149836524	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.372C>A; p.C124*; 5:149826792-149826792	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.403delC; p.S137fs*69; 5:149826823-149826823	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.403delC; p.S137fs*69; 5:149826823-149826823	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2905G>A; p.E969K; 5:149845848-149845848	skin	malignant_melanoma	Substitution - Missense
c.403delC; p.S137fs*69; 5:149826823-149826823	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.403delC; p.S137fs*69; 5:149826823-149826823	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.271G>T; p.A91S; 5:149826691-149826691	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>T; p.A91S; 5:149826691-149826691	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1426G>A; p.V476M; 5:149833499-149833499	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1426G>A; p.V476M; 5:149833499-149833499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2382_2384delCAG; p.S799delS; 5:149836837-149836839	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.2273A>G; p.H758R; 5:149836728-149836728	kidney	other; neoplasm	Substitution - Missense
c.2439_2441delGGA; p.E818delE; 5:149836894-149836896	skin	malignant_melanoma	Deletion - In frame
c.2439_2441delGGA; p.E818delE; 5:149836894-149836896	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2363A>G; p.Y788C; 5:149836818-149836818	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2363A>G; p.Y788C; 5:149836818-149836818	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1169C>T; p.S390L; 5:149833242-149833242	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2221_2222delAG; p.R741fs*3; 5:149836676-149836677	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2384G>A; p.S795N; 5:149836839-149836839	breast	carcinoma	Substitution - Missense
c.2057C>T; p.S686F; 5:149836512-149836512	skin	malignant_melanoma	Substitution - Missense
c.1949C>A; p.A650D; 5:149836404-149836404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.569G>A; p.R190Q; 5:149830870-149830870	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2760G>A; p.R920R; 5:149842321-149842321	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2478G>A; p.G826G; 5:149836933-149836933	skin	malignant_melanoma	Substitution - coding silent
c.826G>A; p.G276S; 5:149832899-149832899	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2011G>A; p.A671T; 5:149836466-149836466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.682C>T; p.Q228*; 5:149832755-149832755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2807G>C; p.R936T; 5:149842368-149842368	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2033A>T; p.Q678L; 5:149836488-149836488	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2191G>A; p.E731K; 5:149836646-149836646	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2033A>T; p.Q678L; 5:149836488-149836488	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1323G>A; p.E441E; 5:149833396-149833396	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2253C>A; p.D751E; 5:149836708-149836708	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2820C>T; p.G940G; 5:149845763-149845763	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.321C>T; p.D107D; 5:149826741-149826741	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.850A>T; p.M284L; 5:149832923-149832923	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2479G>A; p.V827I; 5:149836934-149836934	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2704C>T; p.R902C; 5:149842265-149842265	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2514G>C; p.Q838H; 5:149836969-149836969	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.671A>G; p.Q224R; 5:149832744-149832744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.76C>G; p.Q26E; 5:149730418-149730418	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1623G>A; p.Q541Q; 5:149833696-149833696	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1073C>T; p.P358L; 5:149833146-149833146	skin	malignant_melanoma	Substitution - Missense
c.141G>A; p.L47L; 5:149820495-149820495	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.322G>A; p.V108M; 5:149826742-149826742	skin	malignant_melanoma	Substitution - Missense
c.2606G>A; p.R869Q; 5:149837061-149837061	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2972-9C>T; p.?; 5:149847449-149847449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.939C>T; p.P313P; 5:149833012-149833012	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.825C>T; p.P275P; 5:149832898-149832898	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.939C>T; p.P313P; 5:149833012-149833012	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2130G>A; p.R710R; 5:149836585-149836585	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.850A>G; p.M284V; 5:149832923-149832923	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.153C>A; p.D51E; 5:149820507-149820507	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.874C>T; p.R292C; 5:149832947-149832947	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1209C>T; p.T403T; 5:149833282-149833282	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2271C>T; p.D757D; 5:149836726-149836726	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2595A>C; p.S865S; 5:149837050-149837050	breast	carcinoma	Substitution - coding silent
c.2586C>T; p.H862H; 5:149837041-149837041	skin	malignant_melanoma	Substitution - coding silent
c.1160G>A; p.R387H; 5:149833233-149833233	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1999C>T; p.H667Y; 5:149836454-149836454	skin	malignant_melanoma	Substitution - Missense
c.1160G>A; p.R387H; 5:149833233-149833233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.834G>A; p.P278P; 5:149832907-149832907	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2080T>G; p.Y694D; 5:149836535-149836535	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2475A>T; p.S825S; 5:149836930-149836930	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2080T>G; p.Y694D; 5:149836535-149836535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2746C>T; p.R916*; 5:149842307-149842307	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1902C>T; p.L634L; 5:149836357-149836357	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1902C>T; p.L634L; 5:149836357-149836357	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1902C>T; p.L634L; 5:149836357-149836357	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.200A>C; p.N67T; 5:149820554-149820554	breast	carcinoma	Substitution - Missense
c.2048G>A; p.R683H; 5:149836503-149836503	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.360C>T; p.D120D; 5:149826780-149826780	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2070A>G; p.G690G; 5:149836525-149836525	liver	carcinoma	Substitution - coding silent
c.622T>G; p.S208A; 5:149832695-149832695	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.775C>A; p.P259T; 5:149832848-149832848	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2070A>G; p.G690G; 5:149836525-149836525	liver	carcinoma	Substitution - coding silent
c.2070A>G; p.G690G; 5:149836525-149836525	liver	carcinoma	Substitution - coding silent
c.2495C>G; p.S832C; 5:149836950-149836950	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1453G>T; p.E485*; 5:149833526-149833526	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.572C>T; p.P191L; 5:149830873-149830873	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.735G>A; p.K245K; 5:149832808-149832808	skin	malignant_melanoma	Substitution - coding silent
c.1338G>A; p.E446E; 5:149833411-149833411	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.127G>A; p.D43N; 5:149820481-149820481	skin	malignant_melanoma	Substitution - Missense
c.1100C>T; p.A367V; 5:149833173-149833173	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>A; p.R292S; 5:149832947-149832947	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.666G>A; p.S222S; 5:149832739-149832739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.665C>A; p.S222*; 5:149832738-149832738	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2734G>T; p.D912Y; 5:149842295-149842295	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.721C>T; p.R241W; 5:149832794-149832794	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2577A>C; p.S859S; 5:149837032-149837032	thyroid	other; neoplasm	Substitution - coding silent
c.2577A>C; p.S859S; 5:149837032-149837032	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2577A>C; p.S859S; 5:149837032-149837032	thyroid	other; neoplasm	Substitution - coding silent
c.2577A>C; p.S859S; 5:149837032-149837032	thyroid	other; neoplasm	Substitution - coding silent
c.2050C>T; p.P684S; 5:149836505-149836505	skin	malignant_melanoma	Substitution - Missense
c.2050C>T; p.P684S; 5:149836505-149836505	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1501G>A; p.E501K; 5:149833574-149833574	skin	malignant_melanoma	Substitution - Missense
c.897delC; p.Q301fs*43; 5:149832970-149832970	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.253-1G>C; p.?; 5:149826672-149826672	breast	carcinoma	Unknown
c.1349A>G; p.E450G; 5:149833422-149833422	thyroid	other; neoplasm	Substitution - Missense
c.2142G>A; p.P714P; 5:149836597-149836597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2946C>T; p.F982F; 5:149845889-149845889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.569G>T; p.R190L; 5:149830870-149830870	ovary	other; neoplasm	Substitution - Missense
c.2095C>T; p.R699*; 5:149836550-149836550	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.2095C>T; p.R699*; 5:149836550-149836550	skin	malignant_melanoma	Substitution - Nonsense
c.126T>C; p.L42L; 5:149820480-149820480	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.126T>C; p.L42L; 5:149820480-149820480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation