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 | 1,128 | 209 | 906 |
| Samples | 573 | 131 | 433 |
| Peptides | 453 | 93 | 368 |
Function
ABL1 · ABL proto-oncogene 1, non-receptor tyrosine kinase
This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014].
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 438 amino-acid changes on canonical ENST00000318560 · 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 ABL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ABL1 – 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 | 5/25 20% | 0/0 0% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 22/612 4% |
| Acute Monocytic Leukemia | 1/1 100% | 0/25 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Cervical Carcinoma | 4/35 11% | 11/422 3% |
| Melanoma | 13/210 6% | 53/1899 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Unknown | 1/10 10% | 0/29 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Colorectal Carcinoma | 14/143 10% | 70/3239 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 27/1515 2% |
| Neuroendocrine Tumour | 5/154 3% | 8/577 1% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 20/1390 1% |
| Gastric Carcinoma | 4/74 5% | 25/1809 1% |
| Ovarian Carcinoma | 3/109 3% | 12/998 1% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 7/810 1% |
| Bladder Carcinoma | 2/58 3% | 10/956 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Non-Cancerous | 1/104 1% | 9/830 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Other Sarcomas | 3/69 4% | 4/699 1% |
| Head and Neck Carcinoma | 3/85 4% | 10/1574 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 18/2550 1% |
| Hepatocellular Carcinoma | 1/46 2% | 16/2210 1% |
| Glioma | 0/52 0% | 16/2127 1% |
| Breast Carcinoma | 4/144 3% | 21/3264 1% |
Mutation Distribution
Where ABL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ABL1 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 1,128 mutations in ABL1
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 |
|---|