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 | 2,056 | 289 | 1,731 |
| Samples | 443 | 92 | 342 |
| Peptides | 331 | 64 | 280 |
Function
PEG10 · Paternally expressed 10
This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014].
Isoforms & Proteins
6 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000612748 | A0A087WX23* | 467 | 308 |
| ENST00000612941 | A0A087WUL4* | 404 | 283 |
| ENST00000617526 | A0A087WXK2* | 384 | 273 |
| ENST00000488574 | Q86TG7-5 | 281 | 188 |
| ENST00000615790 | Q86TG7-3 | 270 | 180 |
| ENST00000482108 | Q86TG7-2 | 250 | 170 |
Gene Properties
Recurrent Mutations
All 188 amino-acid changes on canonical ENST00000488574 · 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 PEG10 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PEG10 – 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 | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 21/612 3% |
| Other Solid Cancers | 6/94 6% | 28/1515 2% |
| Gastric Carcinoma | 4/74 5% | 32/1809 2% |
| Colorectal Carcinoma | 11/143 8% | 53/3239 2% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 9/1390 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 15/810 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 40/2550 2% |
| Melanoma | 9/210 4% | 22/1899 1% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Hepatocellular Carcinoma | 0/46 0% | 25/2210 1% |
| Head and Neck Carcinoma | 6/85 7% | 11/1574 1% |
| Neuroendocrine Tumour | 1/154 1% | 5/577 1% |
| Non-Cancerous | 0/104 0% | 7/830 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 13/2534 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| B-Lymphoblastic Leukemia | 9/55 16% | 4/2640 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Pancreatic Carcinoma | 1/89 1% | 6/1611 0% |
| Breast Carcinoma | 2/144 1% | 9/3264 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Bladder Carcinoma | 1/58 2% | 1/956 0% |
| Prostate Carcinoma | 1/13 8% | 3/2105 0% |
| Other Blood Cancers | 1/61 2% | 4/2725 0% |
Mutation Distribution
Where PEG10 is mutated · all tissues, split by cell line vs tissue
How many mutations in PEG10 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 2,056 mutations in PEG10
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 |
|---|