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 | 376 | 70 | 302 |
| Samples | 363 | 68 | 291 |
| Peptides | 268 | 43 | 232 |
Function
RPE65 · Retinoid isomerohydrolase RPE65
The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017].
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 |
|---|---|---|---|
| ENST00000262340 | Q16518 | 376 | 268 |
Gene Properties
Recurrent Mutations
All 268 amino-acid changes on canonical ENST00000262340 · 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 RPE65 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RPE65 – 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 | 3/40 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Melanoma | 8/210 4% | 69/1899 4% |
| Hodgkins Lymphoma | 4/16 25% | 0/122 0% |
| Endometrial Carcinoma | 3/42 7% | 15/612 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 26/1390 2% |
| Other Solid Cancers | 3/94 3% | 17/1515 1% |
| Colorectal Carcinoma | 9/143 6% | 31/3239 1% |
| Neuroendocrine Tumour | 6/154 4% | 2/577 0% |
| Gastric Carcinoma | 1/74 1% | 17/1809 1% |
| Biliary Tract Carcinoma | 0/54 0% | 9/950 1% |
| Bladder Carcinoma | 2/58 3% | 6/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Blood Cancers | 0/61 0% | 14/2725 1% |
| Pancreatic Carcinoma | 2/89 2% | 5/1611 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Breast Carcinoma | 1/144 1% | 11/3264 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Glioma | 1/52 2% | 5/2127 0% |
| Prostate Carcinoma | 4/13 31% | 2/2105 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
Mutation Distribution
Where RPE65 is mutated · all tissues, split by cell line vs tissue
How many mutations in RPE65 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 40 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 376 mutations in RPE65
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 |
|---|