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 | 737 | 81 | 645 |
| Samples | 398 | 57 | 335 |
| Peptides | 270 | 44 | 230 |
Function
TBXT · T-box transcription factor T
The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018].
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 241 amino-acid changes on canonical ENST00000296946 · 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 TBXT · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TBXT – 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% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 4/42 10% | 18/612 3% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 16/810 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Gastric Carcinoma | 1/74 1% | 38/1809 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 5/210 2% | 37/1899 2% |
| Small Cell Lung Carcinoma | 2/9 22% | 13/752 2% |
| Cervical Carcinoma | 1/35 3% | 8/422 2% |
| Other Solid Cancers | 0/94 0% | 31/1515 2% |
| Colorectal Carcinoma | 6/143 4% | 53/3239 2% |
| Rhabdomyosarcoma | 2/33 6% | 1/171 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Bladder Carcinoma | 2/58 3% | 9/956 1% |
| Non-Cancerous | 0/104 0% | 10/830 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 17/1390 1% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 17/2550 1% |
| Ovarian Carcinoma | 4/109 4% | 3/998 0% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Glioma | 2/52 4% | 9/2127 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Head and Neck Carcinoma | 1/85 1% | 6/1574 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
Mutation Distribution
Where TBXT is mutated · all tissues, split by cell line vs tissue
How many mutations in TBXT 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.
Mutations
All 737 mutations in TBXT
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 |
|---|