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 | 1,354 | 118 | 1,219 |
| Samples | 463 | 65 | 390 |
| Peptides | 364 | 44 | 322 |
Function
CBL · Cbl proto-oncogene
This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016].
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 |
|---|---|---|---|
| ENST00000264033 | P22681 | 492 | 346 |
| ENST00000634586 | A0A0U1RQX8* | 431 | 311 |
| ENST00000634840 | A0A0U1RR39* | 431 | 313 |
Gene Properties
Recurrent Mutations
All 346 amino-acid changes on canonical ENST00000264033 · 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 CBL · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CBL – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 2/25 8% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 19/612 3% |
| Melanoma | 2/210 1% | 74/1899 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Other Solid Cancers | 2/94 2% | 33/1515 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 14/752 2% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 17/1390 1% |
| Colorectal Carcinoma | 10/143 7% | 38/3239 1% |
| Other Blood Cancers | 1/61 2% | 35/2725 1% |
| Bladder Carcinoma | 1/58 2% | 11/956 1% |
| Gastric Carcinoma | 1/74 1% | 21/1809 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Glioma | 2/52 4% | 17/2127 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Neuroendocrine Tumour | 5/154 3% | 0/577 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Hepatocellular Carcinoma | 1/46 2% | 13/2210 1% |
| Breast Carcinoma | 6/144 4% | 12/3264 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 10/2550 0% |
| Biliary Tract Carcinoma | 2/54 4% | 3/950 0% |
| Kidney Carcinoma | 2/85 2% | 7/1862 0% |
| Prostate Carcinoma | 0/13 0% | 9/2105 0% |
Mutation Distribution
Where CBL is mutated · all tissues, split by cell line vs tissue
How many mutations in CBL 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 1,354 mutations in CBL
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 |
|---|