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 | 3,839 | 515 | 3,299 |
| Samples | 2,123 | 361 | 1,745 |
| Peptides | 1,711 | 293 | 1,480 |
Function
RP1 · RP1 axonemal microtubule associated
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010].
Isoforms & Proteins
3 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 |
|---|---|---|---|
| ENST00000220676 | P56715 | 2,613 | 1,506 |
| ENST00000636932 | A0A1B0GTV9* | 619 | 397 |
| ENST00000637698 | A0A1B0GUH0* | 607 | 384 |
Gene Properties
Recurrent Mutations
All 1506 amino-acid changes on canonical ENST00000220676 · 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 RP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RP1 – 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 |
|---|---|---|
| Melanoma | 63/210 30% | 432/1899 23% |
| T-Lymphoblastic Leukemia | 6/40 15% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 47/612 8% |
| Other Solid Cancers | 7/94 7% | 136/1515 9% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 62/810 8% |
| Non-Small Cell Lung Carcinoma | 41/304 13% | 92/1390 7% |
| Gastric Carcinoma | 6/74 8% | 132/1809 7% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Colorectal Carcinoma | 41/143 29% | 155/3239 5% |
| Esophageal Squamous Cell Carcinoma | 16/51 31% | 121/2550 5% |
| Esophageal Carcinoma | 0/23 0% | 41/769 5% |
| Unknown | 0/10 0% | 2/29 7% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 9/171 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 30/752 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Hodgkins Lymphoma | 4/16 25% | 1/122 1% |
| Hepatocellular Carcinoma | 10/46 22% | 69/2210 3% |
| Neuroendocrine Tumour | 19/154 12% | 6/577 1% |
| Other Sarcomas | 7/69 10% | 18/699 3% |
| Head and Neck Carcinoma | 6/85 7% | 45/1574 3% |
| Plasma Cell Myeloma | 7/44 16% | 3/305 1% |
| Bladder Carcinoma | 1/58 2% | 28/956 3% |
| Burkitts Lymphoma | 6/32 19% | 0/196 0% |
| Cervical Carcinoma | 4/35 11% | 8/422 2% |
| Germ Cell Tumour | 3/25 12% | 2/169 1% |
| Ovarian Carcinoma | 7/109 6% | 17/998 2% |
Mutation Distribution
Where RP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RP1 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 50 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 3,839 mutations in RP1
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 |
|---|