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 | 1,692 | 157 | 1,491 |
| Samples | 497 | 80 | 406 |
| Peptides | 456 | 67 | 372 |
Function
RPGR · Retinitis pigmentosa GTPase regulator
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008].
Isoforms & Proteins
7 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 |
|---|---|---|---|
| ENST00000645032 | Q92834-6 | 482 | 351 |
| ENST00000339363 | Q92834 | 321 | 240 |
| ENST00000642395 | Q92834-2 | 308 | 226 |
| ENST00000644337 | Q92834-4 | 271 | 204 |
| ENST00000644238 | A0A2R8YFT6* | 217 | 171 |
| ENST00000647261 | A0A2R8Y4C9* | 92 | 81 |
| ENST00000482855 | Q92834-3 | 1 | 1 |
Gene Properties
Recurrent Mutations
All 351 amino-acid changes on canonical ENST00000645032 · 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 RPGR · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RPGR – 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 |
|---|---|---|
| Endometrial Carcinoma | 3/42 7% | 24/612 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Cervical Carcinoma | 3/35 9% | 14/422 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 35/1390 3% |
| Mesothelioma | 6/62 10% | 0/165 0% |
| Melanoma | 7/210 3% | 42/1899 2% |
| Colorectal Carcinoma | 18/143 13% | 43/3239 1% |
| Bladder Carcinoma | 0/58 0% | 18/956 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 12/810 1% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Osteosarcoma | 2/45 4% | 1/166 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 21/1592 1% |
| Hepatocellular Carcinoma | 0/46 0% | 28/2210 1% |
| Gastric Carcinoma | 1/74 1% | 22/1809 1% |
| Breast Carcinoma | 2/144 1% | 38/3264 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Other Sarcomas | 5/69 7% | 2/699 0% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Non-Cancerous | 1/104 1% | 6/830 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Biliary Tract Carcinoma | 0/54 0% | 7/950 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
Mutation Distribution
Where RPGR is mutated · all tissues, split by cell line vs tissue
How many mutations in RPGR 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 1,692 mutations in RPGR
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 |
|---|