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

Basic Information

Gene ID

5468

Name

PPARG

Synonymous

peroxisome proliferator-activated receptor gamma;PPARG;peroxisome proliferator-activated receptor gamma

Definition

PPAR-gamma|nuclear receptor subfamily 1 group C member 3|peroxisome proliferator-activated nuclear receptor gamma variant 1

Position

3p25

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

Top

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.254G>A; p.R85K; 3:12379875-12379875

 skinmalignant_melanomaSubstitution - Missense

c.637A>G; p.M213V; 3:12405899-12405899

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.703G>A; p.E235K; 3:12405965-12405965

 skinmalignant_melanomaSubstitution - Missense

c.1105A>T; p.I369L; 3:12416989-12416989

 livercarcinomaSubstitution - Missense

c.1105A>T; p.I369L; 3:12416989-12416989

 livercarcinomaSubstitution - Missense

c.686T>C; p.I229T; 3:12405948-12405948

 livercarcinomaSubstitution - Missense

c.686T>C; p.I229T; 3:12405948-12405948

 livercarcinomaSubstitution - Missense

c.1295A>C; p.K432T; 3:12433922-12433922

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.946C>T; p.R316C; 3:12416830-12416830

 skinmalignant_melanomaSubstitution - Missense

c.669G>A; p.A223A; 3:12405931-12405931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.669G>A; p.A223A; 3:12405931-12405931

 skinmalignant_melanomaSubstitution - coding silent

c.1190A>G; p.E397G; 3:12417074-12417074

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.553A>G; p.K185E; 3:12392686-12392686

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 3:12351595-12351595

 skinmalignant_melanomaSubstitution - Missense

c.1114G>A; p.G372S; 3:12416998-12416998

 skinmalignant_melanomaSubstitution - Missense

c.3G>A; p.M1I; 3:12351595-12351595

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1114G>A; p.G372S; 3:12416998-12416998

 skinmalignant_melanomaSubstitution - Missense

c.1452C>A; p.I484I; 3:12434079-12434079

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1248T>A; p.I416I; 3:12417132-12417132

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1481A>C; p.H494P; 3:12434108-12434108

 pancreascarcinomaSubstitution - Missense

c.1104C>T; p.L368L; 3:12416988-12416988

 skinmalignant_melanomaSubstitution - coding silent

c.765G>T; p.P255P; 3:12406027-12406027

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.789G>A; p.A263A; 3:12406051-12406051

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.845C>T; p.S282F; 3:12416729-12416729

 skinmalignant_melanomaSubstitution - Missense

c.845C>T; p.S282F; 3:12416729-12416729

 skinmalignant_melanomaSubstitution - Missense

c.746C>T; p.S249L; 3:12406008-12406008

 kidneyother; neoplasmSubstitution - Missense

c.290T>G; p.L97R; 3:12379911-12379911

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.179T>G; p.F60C; 3:12379800-12379800

 skinmalignant_melanomaSubstitution - Missense

c.448C>T; p.H150Y; 3:12381459-12381459

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.998G>A; p.G333D; 3:12416882-12416882

 skinmalignant_melanomaSubstitution - Missense

c.1484C>G; p.P495R; 3:12434111-12434111

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1460C>T; p.T487M; 3:12434087-12434087

 stomachadenocarcinomaSubstitution - Missense

c.605G>A; p.G202E; 3:12392738-12392738

 skinmalignant_melanomaSubstitution - Missense

c.491G>A; p.R164Q; 3:12392624-12392624

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.550delA; p.S186fs*47; 3:12392683-12392683

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.550delA; p.S186fs*47; 3:12392683-12392683

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.657G>A; p.E219E; 3:12405919-12405919

 skinmalignant_melanomaSubstitution - coding silent

c.186C>T; p.I62I; 3:12379807-12379807

 skinmalignant_melanomaSubstitution - coding silent

c.11C>G; p.T4S; 3:12351603-12351603

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.641C>T; p.P214L; 3:12405903-12405903

 skinmalignant_melanomaSubstitution - Missense

c.1059C>T; p.I353I; 3:12416943-12416943

 skinmalignant_melanomaSubstitution - coding silent

c.77C>T; p.S26L; 3:12351669-12351669

 skinmalignant_melanomaSubstitution - Missense

c.783G>C; p.A261A; 3:12406045-12406045

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1054G>A; p.E352K; 3:12416938-12416938

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.75A>T; p.I25I; 3:12351667-12351667

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1348A>C; p.K450Q; 3:12433975-12433975

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1348A>C; p.K450Q; 3:12433975-12433975

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1348A>C; p.K450Q; 3:12433975-12433975

 large_intestine; coloncarcinomaSubstitution - Missense

c.1348A>C; p.K450Q; 3:12433975-12433975

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1402A>G; p.T468A; 3:12434029-12434029

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.37G>T; p.E13*; 3:12351629-12351629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.922C>T; p.R308C; 3:12416806-12416806

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.922C>T; p.R308C; 3:12416806-12416806

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.109C>T; p.P37S; 3:12379730-12379730

 skinmalignant_melanomaSubstitution - Missense

c.109C>T; p.P37S; 3:12379730-12379730

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1067C>A; p.T356K; 3:12416951-12416951

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1230C>T; p.S410S; 3:12417114-12417114

 central_nervous_system; braingliomaSubstitution - coding silent

c.1480C>T; p.H494Y; 3:12434107-12434107

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.327G>A; p.E109E; 3:12381338-12381338

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.398_399CC>TT; p.S133F; 3:12381409-12381410

 skinmalignant_melanomaSubstitution - Missense

c.1095T>C; p.D365D; 3:12416979-12416979

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.298C>T; p.Q100*; 3:12379919-12379919

 skinmalignant_melanomaSubstitution - Nonsense

c.1094A>G; p.D365G; 3:12416978-12416978

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.399C>T; p.S133S; 3:12381410-12381410

 skinmalignant_melanomaSubstitution - coding silent

c.668C>T; p.A223V; 3:12405930-12405930

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.668C>T; p.A223V; 3:12405930-12405930

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.668C>T; p.A223V; 3:12405930-12405930

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.556A>G; p.S186G; 3:12392689-12392689

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.556A>G; p.S186G; 3:12392689-12392689

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.556A>G; p.S186G; 3:12392689-12392689

 stomachadenocarcinomaSubstitution - Missense

c.724C>G; p.L242V; 3:12405986-12405986

 breastcarcinomaSubstitution - Missense

c.724C>G; p.L242V; 3:12405986-12405986

 breastcarcinomaSubstitution - Missense

c.882C>T; p.H294H; 3:12416766-12416766

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.168C>G; p.H56Q; 3:12379789-12379789

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.532C>A; p.L178I; 3:12392665-12392665

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.176C>T; p.S59F; 3:12379797-12379797

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.455G>A; p.G152E; 3:12381466-12381466

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.480+7delA; p.?; 3:12381498-12381498

 NSmalignant_melanomaUnknown

c.303G>A; p.E101E; 3:12379924-12379924

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.887delC; p.L298fs*38; 3:12416771-12416771

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.887delC; p.L298fs*38; 3:12416771-12416771

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.648C>A; p.A216A; 3:12405910-12405910

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1270+1G>A; p.?; 3:12417155-12417155

 skinmalignant_melanomaUnknown

c.1477C>T; p.L493F; 3:12434104-12434104

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1154G>A; p.R385Q; 3:12417038-12417038

 skinmalignant_melanomaSubstitution - Missense

c.682G>T; p.D228Y; 3:12405944-12405944

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1515C>G; p.Y505*; 3:12434142-12434142

 ovaryother; neoplasmSubstitution - Nonsense

c.1515C>G; p.Y505*; 3:12434142-12434142

 ovaryother; neoplasmSubstitution - Nonsense

c.1515C>G; p.Y505*; 3:12434142-12434142

 ovaryother; neoplasmSubstitution - Nonsense

c.1515C>G; p.Y505*; 3:12434142-12434142

 ovaryother; neoplasmSubstitution - Nonsense

c.169T>A; p.S57T; 3:12379790-12379790

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.235G>A; p.E79K; 3:12379856-12379856

 breastcarcinomaSubstitution - Missense

c.1431C>T; p.H477H; 3:12434058-12434058

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1431C>T; p.H477H; 3:12434058-12434058

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.870C>G; p.I290M; 3:12416754-12416754

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.177C>A; p.S59S; 3:12379798-12379798

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.672G>A; p.E224E; 3:12405934-12405934

 skinmalignant_melanomaSubstitution - coding silent

c.262C>G; p.P88A; 3:12379883-12379883

 central_nervous_system; braingliomaSubstitution - Missense

c.1413A>G; p.R471R; 3:12434040-12434040

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.940C>G; p.Q314E; 3:12416824-12416824

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.940C>G; p.Q314E; 3:12416824-12416824

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.7G>A; p.E3K; 3:12351599-12351599

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.7G>A; p.E3K; 3:12351599-12351599

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.7G>A; p.E3K; 3:12351599-12351599

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1462G>A; p.E488K; 3:12434089-12434089

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.419G>A; p.R140H; 3:12381430-12381430

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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