Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5465

Name

PPARA

Synonymous

peroxisome proliferator-activated receptor alpha;PPARA;peroxisome proliferator-activated receptor alpha

Definition

PPAR-alpha|nuclear receptor subfamily 1 group C member 1|peroxisome proliferative activated receptor, alpha|peroxisome proliferator-activated nuclear receptor alpha variant 3

Position

22q13.31

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.20.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1073A>G; p.K358R; 22:46232153-46232153

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1073A>G; p.K358R; 22:46232153-46232153

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1110G>A; p.L370L; 22:46232190-46232190

 skinmalignant_melanomaSubstitution - coding silent

c.1349C>T; p.T450M; 22:46235322-46235322

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.88G>T; p.E30*; 22:46198471-46198471

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1283delA; p.M430fs*8; 22:46235256-46235256

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1283delA; p.M430fs*8; 22:46235256-46235256

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1260C>T; p.I420I; 22:46235233-46235233

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.420_422delCCG; p.R141delR; 22:46218313-46218315

 pancreascarcinomaDeletion - In frame

c.420_422delCCG; p.R141delR; 22:46218313-46218315

 pancreascarcinoma; ductal_carcinomaDeletion - In frame

c.262G>A; p.G88S; 22:46215226-46215226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.892G>A; p.A298T; 22:46231972-46231972

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1174C>A; p.L392I; 22:46235147-46235147

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1146C>T; p.I382I; 22:46232226-46232226

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1146C>T; p.I382I; 22:46232226-46232226

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.268G>A; p.V90M; 22:46215232-46215232

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.316G>A; p.G106R; 22:46215280-46215280

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.67T>G; p.L23V; 22:46198450-46198450

 livercarcinomaSubstitution - Missense

c.533G>T; p.R178I; 22:46219836-46219836

 breastcarcinomaSubstitution - Missense

c.228G>A; p.S76S; 22:46215192-46215192

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.740T>A; p.L247Q; 22:46231820-46231820

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.150C>T; p.G50G; 22:46198533-46198533

 skinmalignant_melanomaSubstitution - coding silent

c.583_584delAT; p.I195fs*4; 22:46219886-46219887

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.12G>A; p.T4T; 22:46198395-46198395

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.173G>C; p.G58A; 22:46198556-46198556

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.12G>A; p.T4T; 22:46198395-46198395

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.58G>C; p.E20Q; 22:46198441-46198441

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.331G>T; p.G111C; 22:46215295-46215295

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.913C>G; p.Q305E; 22:46231993-46231993

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.396C>A; p.L132L; 22:46218289-46218289

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.443A>G; p.K148R; 22:46218336-46218336

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.990G>T; p.M330I; 22:46232070-46232070

 breastcarcinomaSubstitution - Missense

c.870C>T; p.F290F; 22:46231950-46231950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.870C>T; p.F290F; 22:46231950-46231950

 skinmalignant_melanomaSubstitution - coding silent

c.1091A>C; p.K364T; 22:46232171-46232171

 breastcarcinomaSubstitution - Missense

c.444G>C; p.K148N; 22:46218337-46218337

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.444G>C; p.K148N; 22:46218337-46218337

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.273C>T; p.D91D; 22:46215237-46215237

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.48C>T; p.A16A; 22:46198431-46198431

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.124G>A; p.G42S; 22:46198507-46198507

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.113C>T; p.S38L; 22:46198496-46198496

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.435C>T; p.I145I; 22:46218328-46218328

 skinmalignant_melanomaSubstitution - coding silent

c.779C>T; p.A260V; 22:46231859-46231859

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.375C>T; p.F125F; 22:46218268-46218268

 skinmalignant_melanomaSubstitution - coding silent

c.538G>C; p.E180Q; 22:46219841-46219841

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.475C>T; p.H159Y; 22:46218368-46218368

 skinmalignant_melanomaSubstitution - Missense

c.353C>T; p.A118V; 22:46215317-46215317

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1282_1283insA; p.M430fs*>40; 22:46235255-46235256

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - Frameshift

c.219A>G; p.S73S; 22:46215183-46215183

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.287G>A; p.G96E; 22:46215251-46215251

 skin; trunkmalignant_melanomaSubstitution - Missense

c.984C>T; p.D328D; 22:46232064-46232064

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.984C>T; p.D328D; 22:46232064-46232064

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1144A>G; p.I382V; 22:46232224-46232224

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1072A>G; p.K358E; 22:46232152-46232152

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.464A>G; p.Y155C; 22:46218357-46218357

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.837G>T; p.T279T; 22:46231917-46231917

 livercarcinomaSubstitution - coding silent

c.837G>T; p.T279T; 22:46231917-46231917

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1078G>C; p.D360H; 22:46232158-46232158

 skinmalignant_melanomaSubstitution - Missense

c.954C>T; p.F318F; 22:46232034-46232034

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1154G>C; p.C385S; 22:46232234-46232234

 thyroidother; neoplasmSubstitution - Missense

c.282C>T; p.P94P; 22:46215246-46215246

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.182C>T; p.P61L; 22:46198565-46198565

 skinmalignant_melanomaSubstitution - Missense

c.213G>A; p.T71T; 22:46215177-46215177

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.301G>A; p.E101K; 22:46215265-46215265

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.507C>T; p.N169N; 22:46218400-46218400

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.514C>T; p.R172C; 22:46219817-46219817

 skinmalignant_melanomaSubstitution - Missense

c.514C>T; p.R172C; 22:46219817-46219817

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:46219817-46219817

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.514C>T; p.R172C; 22:46219817-46219817

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.191delA; p.D64fs*18; 22:46198574-46198574

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.523C>T; p.R175*; 22:46219826-46219826

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Nonsense

c.206C>T; p.T69M; 22:46198589-46198589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421C>T; p.R141C; 22:46218314-46218314

 skinmalignant_melanomaSubstitution - Missense

c.933C>T; p.Y311Y; 22:46232013-46232013

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.654C>T; p.F218F; 22:46219957-46219957

 skinmalignant_melanomaSubstitution - coding silent

c.934G>A; p.G312R; 22:46232014-46232014

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.741G>C; p.L247L; 22:46231821-46231821

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1251G>A; p.P417P; 22:46235224-46235224

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.50G>A; p.G17D; 22:46198433-46198433

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1365_1367delGCT; p.L456delL; 22:46235338-46235340

 breastcarcinomaDeletion - In frame

c.732G>T; p.M244I; 22:46231812-46231812

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1162C>T; p.R388C; 22:46235135-46235135

 skinmalignant_melanomaSubstitution - Missense

c.1154G>A; p.C385Y; 22:46232234-46232234

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1030C>T; p.L344L; 22:46232110-46232110

 skinmalignant_melanomaSubstitution - coding silent

c.1192_1193insA; p.M400fs*>70; 22:46235165-46235166

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.11C>T; p.T4M; 22:46198394-46198394

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421C>A; p.R141S; 22:46218314-46218314

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.492C>T; p.V164V; 22:46218385-46218385

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.510G>A; p.A170A; 22:46219813-46219813

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.383G>A; p.R128Q; 22:46218276-46218276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1125C>A; p.I375I; 22:46232205-46232205

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.227C>T; p.S76L; 22:46215191-46215191

 skinmalignant_melanomaSubstitution - Missense

c.227C>T; p.S76L; 22:46215191-46215191

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.227C>T; p.S76L; 22:46215191-46215191

 skinmalignant_melanomaSubstitution - Missense

c.227C>T; p.S76L; 22:46215191-46215191

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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