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 | 2,054 | 258 | 1,697 |
| Samples | 342 | 58 | 265 |
| Peptides | 253 | 42 | 220 |
Function
CBFA2T2 · CBFA2/RUNX1 partner transcriptional co-repressor 2
In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
8 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 218 amino-acid changes on canonical ENST00000342704 · 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 CBFA2T2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CBFA2T2 – 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% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 11/612 2% |
| Bladder Carcinoma | 2/58 3% | 19/956 2% |
| Melanoma | 2/210 1% | 36/1899 2% |
| Biliary Tract Carcinoma | 0/54 0% | 17/950 2% |
| Colorectal Carcinoma | 14/143 10% | 37/3239 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 9/810 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Neuroendocrine Tumour | 2/154 1% | 5/577 1% |
| Ewings Sarcoma | 1/63 2% | 2/262 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 10/1390 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 14/2534 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Kidney Carcinoma | 3/85 4% | 7/1862 0% |
| Glioma | 0/52 0% | 11/2127 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 5/1592 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 11/2550 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
Mutation Distribution
Where CBFA2T2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CBFA2T2 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 2,054 mutations in CBFA2T2
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 |
|---|