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 | 144,143 | 17,010 | 124,985 |
| Samples | 11,492 | 1,890 | 9,410 |
| Peptides | 20,061 | 3,377 | 17,259 |
Function
TTN · Titin
This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000589042 | Q8WZ42-12 | 29,333 | 18,608 |
| ENST00000591111 | Q8WZ42 | 25,926 | 17,345 |
| ENST00000342992 | Q8WZ42-11 | 24,885 | 16,752 |
| ENST00000342175 | A0A0A0MRA3* | 19,564 | 13,170 |
| ENST00000359218 | Q8WZ42-10 | 19,472 | 13,123 |
| ENST00000460472 | Q8WZ42-3 | 19,396 | 13,059 |
| ENST00000360870 | Q8WZ42-6 | 5,549 | 3,465 |
| ENST00000715174 | - | 18 | 18 |
Gene Properties
Recurrent Mutations
All 2500 amino-acid changes on canonical ENST00000589042 · 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 TTN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TTN – 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 | 34/40 85% | 0/0 0% |
| Chronic Myelogenous Leukemia | 18/25 72% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 49/57 86% | 470/810 58% |
| Melanoma | 164/210 78% | 938/1899 49% |
| Glioblastoma | 49/98 50% | 0/0 0% |
| Acute Myeloid Leukemia | 44/90 49% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 232/304 76% | 537/1390 39% |
| Gastric Carcinoma | 57/74 77% | 731/1809 40% |
| Oral Cavity Carcinoma | 20/54 37% | 0/0 0% |
| Endometrial Carcinoma | 37/42 88% | 205/612 34% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 49/133 37% |
| Colorectal Carcinoma | 119/143 83% | 1119/3239 35% |
| Bladder Carcinoma | 37/58 64% | 301/956 31% |
| Other Solid Cancers | 55/94 59% | 467/1515 31% |
| Cervical Carcinoma | 23/35 66% | 120/422 28% |
| T-Cell Non-Hodgkins Lymphoma | 8/26 31% | 0/0 0% |
| Esophageal Carcinoma | 18/23 78% | 211/769 27% |
| Small Cell Lung Carcinoma | 7/9 78% | 210/752 28% |
| Head and Neck Carcinoma | 59/85 69% | 413/1574 26% |
| Esophageal Squamous Cell Carcinoma | 41/51 80% | 697/2550 27% |
| Unknown | 5/10 50% | 6/29 21% |
| Neuroendocrine Tumour | 133/154 86% | 73/577 13% |
| Ovarian Carcinoma | 50/109 46% | 201/998 20% |
| Hepatocellular Carcinoma | 28/46 61% | 471/2210 21% |
| Hodgkins Lymphoma | 12/16 75% | 17/122 14% |
| Chordoma | 1/7 14% | 3/13 23% |
| Plasma Cell Myeloma | 22/44 50% | 41/305 13% |
| Biliary Tract Carcinoma | 23/54 43% | 156/950 16% |
| Other Sarcomas | 31/69 45% | 105/699 15% |
| Mesothelioma | 25/62 40% | 15/165 9% |
Mutation Distribution
Where TTN is mutated · all tissues, split by cell line vs tissue
How many mutations in TTN 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 144,143 mutations in TTN
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 |
|---|