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 | 1,123 | 170 | 936 |
| Samples | 591 | 126 | 456 |
| Peptides | 438 | 90 | 372 |
Function
TERT · Telomerase reverse transcriptase
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [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 |
|---|---|---|---|
| ENST00000310581 | O14746 | 630 | 425 |
| ENST00000334602 | O14746-3 | 484 | 356 |
| ENST00000460137 | O14746-4 | 7 | 5 |
| ENST00000656021 | A0A590UK92* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 425 amino-acid changes on canonical ENST00000310581 · 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 TERT · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TERT – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 18/612 3% |
| Melanoma | 10/210 5% | 56/1899 3% |
| Hodgkins Lymphoma | 0/16 0% | 4/122 3% |
| Colorectal Carcinoma | 14/143 10% | 78/3239 2% |
| Plasma Cell Myeloma | 3/44 7% | 4/305 1% |
| Gastric Carcinoma | 3/74 4% | 34/1809 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Non-Cancerous | 11/104 11% | 6/830 1% |
| Other Sarcomas | 2/69 3% | 11/699 2% |
| Other Solid Cancers | 8/94 9% | 19/1515 1% |
| Neuroendocrine Tumour | 5/154 3% | 7/577 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 25/1592 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 12/810 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 16/1390 1% |
| Bladder Carcinoma | 3/58 5% | 10/956 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Biliary Tract Carcinoma | 1/54 2% | 10/950 1% |
| Head and Neck Carcinoma | 3/85 4% | 14/1574 1% |
| Kidney Carcinoma | 2/85 2% | 16/1862 1% |
| Glioma | 0/52 0% | 20/2127 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 20/2550 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hepatocellular Carcinoma | 1/46 2% | 15/2210 1% |
| Pancreatic Carcinoma | 4/89 4% | 7/1611 0% |
| Breast Carcinoma | 3/144 2% | 17/3264 1% |
Mutation Distribution
Where TERT is mutated · all tissues, split by cell line vs tissue
How many mutations in TERT 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 27 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 1,123 mutations in TERT
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 |
|---|