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

Top

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


')