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 | 192 | 24 | 164 |
| Samples | 165 | 24 | 138 |
| Peptides | 123 | 17 | 106 |
Function
PRPH2 · Peripherin 2
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000230381 | P23942 | 192 | 123 |
Gene Properties
Recurrent Mutations
All 123 amino-acid changes on canonical ENST00000230381 · 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 PRPH2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PRPH2 – 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-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 12/612 2% |
| Melanoma | 3/210 1% | 19/1899 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Ovarian Carcinoma | 2/109 2% | 6/998 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Colorectal Carcinoma | 2/143 1% | 17/3239 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 5/1390 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 6/2534 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 3/2550 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Breast Carcinoma | 2/144 1% | 1/3264 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Other Blood Cancers | 1/61 2% | 1/2725 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
Mutation Distribution
Where PRPH2 is mutated · all tissues, split by cell line vs tissue
How many mutations in PRPH2 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 192 mutations in PRPH2
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 |
|---|