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 | 250 | 25 | 224 |
| Samples | 106 | 15 | 90 |
| Peptides | 88 | 10 | 81 |
Function
CBFB · Core-binding factor subunit beta
The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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.
Gene Properties
Recurrent Mutations
All 74 amino-acid changes on canonical ENST00000412916 · 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 CBFB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CBFB – 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 |
|---|---|---|
| Unknown | 1/10 10% | 0/29 0% |
| Breast Carcinoma | 1/144 1% | 25/3264 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Endometrial Carcinoma | 0/42 0% | 4/612 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Gastric Carcinoma | 0/74 0% | 7/1809 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Melanoma | 1/210 0% | 6/1899 0% |
| Colorectal Carcinoma | 6/143 4% | 5/3239 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 1/1390 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Hepatocellular Carcinoma | 1/46 2% | 2/2210 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 1/2640 0% |
Mutation Distribution
Where CBFB is mutated · all tissues, split by cell line vs tissue
How many mutations in CBFB 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 250 mutations in CBFB
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 |
|---|