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 | 476 | 90 | 379 |
| Samples | 233 | 60 | 168 |
| Peptides | 174 | 47 | 129 |
Function
TBX1 · T-box transcription factor 1
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000329705 | O43435 | 154 | 109 |
| ENST00000332710 | O43435-3 | 152 | 114 |
| ENST00000359500 | O43435-2 | 128 | 98 |
| ENST00000649276 | A0A3B3IS18* | 42 | 36 |
Gene Properties
Recurrent Mutations
All 109 amino-acid changes on canonical ENST00000329705 · 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 TBX1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TBX1 – 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 | 6/40 15% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 5/612 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Neuroendocrine Tumour | 1/154 1% | 10/577 2% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Melanoma | 8/210 4% | 13/1899 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Other Solid Cancers | 1/94 1% | 14/1515 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 11/1592 1% |
| Other Sarcomas | 3/69 4% | 3/699 0% |
| Colorectal Carcinoma | 3/143 2% | 23/3239 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 8/1390 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Meningioma | 1/3 33% | 0/252 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Breast Carcinoma | 3/144 2% | 6/3264 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Head and Neck Carcinoma | 2/85 2% | 2/1574 0% |
| Pancreatic Carcinoma | 1/89 1% | 3/1611 0% |
| Glioma | 0/52 0% | 5/2127 0% |
Mutation Distribution
Where TBX1 is mutated · all tissues, split by cell line vs tissue
How many mutations in TBX1 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 476 mutations in TBX1
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 |
|---|