| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5465 |
Name | PPARA |
Synonymous | NR1C1|PPAR|PPARalpha|hPPAR;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 | 22q12-q13.1|22q13.31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PPARA | ||
PCGP somatic mutation [Top] | ||
There is no record for PPARA | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.464A>G; p.Y155C; |
liver | carcinoma; hepatocellular_carcinoma |
c.913C>G; p.Q305E; |
lung | carcinoma; small_cell_carcinoma |
c.11C>T; p.T4M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.420_422delCCG; p.R141delR; |
pancreas | carcinoma |
c.1073A>G; p.K358R; 22:45006714-45006714 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.48C>T; p.A16A; |
oesophagus | carcinoma; adenocarcinoma |
c.837G>T; p.T279T; |
liver | carcinoma; hepatocellular_carcinoma |
c.58G>C; p.E20Q; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.420_422delCCG; p.R141delR; |
pancreas | carcinoma; ductal_carcinoma |
c.538G>C; p.E180Q; |
lung | carcinoma; adenocarcinoma |
c.287G>A; p.G96E; |
skin; trunk | malignant_melanoma |
c.173G>C; p.G58A; 22:44973117-44973117 |
ovary | carcinoma; serous_carcinoma |
c.732G>T; p.M244I; |
lung | carcinoma; squamous_cell_carcinoma |
c.273C>T; p.D91D; |
lung | carcinoma; squamous_cell_carcinoma |
c.779C>T; p.A260V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.282C>T; p.P94P; |
lung | carcinoma; adenocarcinoma |
c.510G>A; p.A170A; |
lung | carcinoma; adenocarcinoma |
c.1365_1367delGCT; p.L456delL; |
breast | carcinoma |
c.206C>T; p.T69M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1073A>G; p.K358R; 22:45006714-45006714 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.268G>A; p.V90M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.228G>A; p.S76S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1125C>A; p.I375I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.990G>T; p.M330I; |
breast | carcinoma |
c.984C>T; p.D328D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.507C>T; p.N169N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.213G>A; p.T71T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1154G>A; p.C385Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.383G>A; p.R128Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.870C>T; p.F290F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.396C>A; p.L132L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1072A>G; p.K358E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1144A>G; p.I382V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.984C>T; p.D328D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.583_584delAT; p.I195fs*4; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.514C>T; p.R172C; |
skin; ear | carcinoma; squamous_cell_carcinoma |