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 | 1,140 | 128 | 997 |
| Samples | 534 | 88 | 439 |
| Peptides | 386 | 53 | 336 |
Function
RBL1 · RB transcriptional corepressor like 1
The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 376 amino-acid changes on canonical ENST00000373664 · 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 RBL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RBL1 – 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 | 5/42 12% | 27/612 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 75/2550 3% |
| Melanoma | 5/210 2% | 49/1899 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 37/1515 2% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 15/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 13/810 2% |
| Bladder Carcinoma | 1/58 2% | 15/956 2% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Colorectal Carcinoma | 13/143 9% | 38/3239 1% |
| Ovarian Carcinoma | 9/109 8% | 6/998 1% |
| Neuroendocrine Tumour | 7/154 5% | 2/577 0% |
| Hepatocellular Carcinoma | 6/46 13% | 21/2210 1% |
| Gastric Carcinoma | 1/74 1% | 20/1809 1% |
| Head and Neck Carcinoma | 2/85 2% | 15/1574 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Biliary Tract Carcinoma | 1/54 2% | 8/950 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Other Sarcomas | 1/69 1% | 5/699 1% |
| Glioma | 1/52 2% | 14/2127 1% |
| Kidney Carcinoma | 1/85 1% | 11/1862 1% |
| Breast Carcinoma | 3/144 2% | 18/3264 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 9/1592 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
Mutation Distribution
Where RBL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RBL1 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 1,140 mutations in RBL1
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 |
|---|