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 | 114 | 109 | 0 |
| Samples | 104 | 99 | 0 |
| Peptides | 101 | 97 | 0 |
Function
RBP3 · Retinol binding protein 3
Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [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 |
|---|---|---|---|
| ENST00000584701 | P10745 | 114 | 101 |
Gene Properties
Recurrent Mutations
All 101 amino-acid changes on canonical ENST00000584701 · 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 RBP3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RBP3 – 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% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 0/612 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Melanoma | 16/210 8% | 0/1899 0% |
| Ovarian Carcinoma | 8/109 7% | 0/998 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 0/1390 0% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Cervical Carcinoma | 2/35 6% | 0/422 0% |
| Gastric Carcinoma | 7/74 9% | 0/1809 0% |
| Colorectal Carcinoma | 11/143 8% | 0/3239 0% |
| Bladder Carcinoma | 2/58 3% | 1/956 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Non-Cancerous | 2/104 2% | 0/830 0% |
| Other Solid Cancers | 3/94 3% | 0/1515 0% |
| Kidney Carcinoma | 3/85 4% | 0/1862 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Glioma | 2/52 4% | 1/2127 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 0/2550 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 0/2534 0% |
| Other Blood Cancers | 2/61 3% | 0/2725 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 0/1592 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Breast Carcinoma | 1/144 1% | 0/3264 0% |
Mutation Distribution
Where RBP3 is mutated · all tissues, split by cell line vs tissue
How many mutations in RBP3 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 41 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 114 mutations in RBP3
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 |
|---|