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 | 997 | 125 | 847 |
| Samples | 498 | 76 | 411 |
| Peptides | 301 | 53 | 258 |
Function
TGFBR2 · Transforming growth factor beta receptor 2
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017].
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 281 amino-acid changes on canonical ENST00000295754 · 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 TGFBR2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TGFBR2 – 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 | 2/40 5% | 0/0 0% |
| Acute Monocytic Leukemia | 1/1 100% | 0/25 0% |
| Pancreatic Carcinoma | 0/89 0% | 59/1611 4% |
| Endometrial Carcinoma | 5/42 12% | 16/612 3% |
| Gastric Carcinoma | 5/74 7% | 49/1809 3% |
| Colorectal Carcinoma | 15/143 10% | 77/3239 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Head and Neck Carcinoma | 5/85 6% | 22/1574 1% |
| Melanoma | 3/210 1% | 31/1899 2% |
| Other Solid Cancers | 0/94 0% | 19/1515 1% |
| Biliary Tract Carcinoma | 0/54 0% | 11/950 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 26/2550 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 6/1390 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Ovarian Carcinoma | 3/109 3% | 6/998 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Glioma | 4/52 8% | 9/2127 0% |
| Breast Carcinoma | 4/144 3% | 16/3264 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 6/2534 0% |
| Hepatocellular Carcinoma | 1/46 2% | 7/2210 0% |
Mutation Distribution
Where TGFBR2 is mutated · all tissues, split by cell line vs tissue
How many mutations in TGFBR2 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 997 mutations in TGFBR2
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 |
|---|