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 | 292 | 35 | 248 |
| Samples | 149 | 22 | 122 |
| Peptides | 98 | 17 | 81 |
Function
PRNP · Prion protein (Kanno blood group)
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].
Isoforms & Proteins
2 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 98 amino-acid changes on canonical ENST00000379440 · 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 PRNP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PRNP – 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 |
|---|---|---|
| Rhabdomyosarcoma | 0/33 0% | 6/171 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Endometrial Carcinoma | 1/42 2% | 5/612 1% |
| Colorectal Carcinoma | 3/143 2% | 26/3239 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 9/1390 1% |
| Gastric Carcinoma | 2/74 3% | 13/1809 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Melanoma | 0/210 0% | 11/1899 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Other Solid Cancers | 0/94 0% | 7/1515 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Hepatocellular Carcinoma | 2/46 4% | 3/2210 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 2/2550 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
Mutation Distribution
Where PRNP is mutated · all tissues, split by cell line vs tissue
How many mutations in PRNP 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 292 mutations in PRNP
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 |
|---|