PPARA

Peroxisome proliferator activated receptor alpha Q07869 PPARA_HUMAN
Protein Coding Chr 22 22q13.31 Swiss-Prot reviewed Entrez 5465
Mutations
406
CL 56 · Tissue 340
Samples
211
CL 37 · Tissue 168
Peptides
150
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations40656340
Samples21137168
Peptides15023126

Function

PPARA · Peroxisome proliferator activated receptor alpha

Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000407236 Q07869 215 150
ENST00000402126 Q07869 191 141

Gene Properties

Type
Protein Coding
Chromosome
22
Cytoband
22q13.31
Entrez ID
Aliases
NR1C1PPARPPAR-alphaPPARalphahPPAR

Recurrent Mutations

All 150 amino-acid changes on canonical ENST00000407236 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in PPARA · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PPARA – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
5/40 12%
0/0 0%
Endometrial Carcinoma
3/42 7%
12/612 2%
Burkitts Lymphoma
4/32 12%
0/196 0%
Melanoma
2/210 1%
26/1899 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Colorectal Carcinoma
6/143 4%
26/3239 1%
Non-Small Cell Lung Carcinoma
7/304 2%
8/1390 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Other Solid Cancers
0/94 0%
11/1515 1%
Gastric Carcinoma
0/74 0%
12/1809 1%
Squamous Cell Lung Carcinoma
2/57 4%
3/810 0%
Other Sarcomas
0/69 0%
4/699 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Osteosarcoma
0/45 0%
1/166 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Biliary Tract Carcinoma
1/54 2%
3/950 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Head and Neck Carcinoma
1/85 1%
5/1574 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Prostate Carcinoma
2/13 15%
5/2105 0%
Glioma
0/52 0%
7/2127 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Non-Cancerous
0/104 0%
2/830 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Breast Carcinoma
0/144 0%
6/3264 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
4/2534 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%

Mutation Distribution

Where PPARA is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PPARA were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 406 mutations in PPARA

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide