Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,470 | 146 | 1,311 |
| Samples | 575 | 82 | 487 |
| Peptides | 444 | 53 | 397 |
Function
PPARGC1A · PPARG coactivator 1 alpha
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
5 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
Gene Properties
Recurrent Mutations
All 410 amino-acid changes on canonical ENST00000264867 · needle height = samples · drag the mini-map to zoom
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 PPARGC1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PPARGC1A – 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 type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Melanoma | 10/210 5% | 95/1899 5% |
| Endometrial Carcinoma | 1/42 2% | 26/612 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 33/1390 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Colorectal Carcinoma | 10/143 7% | 56/3239 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 28/1515 2% |
| Bladder Carcinoma | 0/58 0% | 18/956 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 12/810 1% |
| Gastric Carcinoma | 0/74 0% | 28/1809 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Hepatocellular Carcinoma | 4/46 9% | 20/2210 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Ovarian Carcinoma | 2/109 2% | 8/998 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 21/2550 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 19/2534 1% |
| Breast Carcinoma | 9/144 6% | 20/3264 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Head and Neck Carcinoma | 0/85 0% | 12/1574 1% |
| Biliary Tract Carcinoma | 0/54 0% | 7/950 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Glioma | 1/52 2% | 12/2127 1% |
Mutation Distribution
Where PPARGC1A is mutated · all tissues, split by cell line vs tissue
How many mutations in PPARGC1A 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
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 1,470 mutations in PPARGC1A
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|