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 | 596 | 85 | 505 |
| Samples | 240 | 51 | 185 |
| Peptides | 200 | 38 | 164 |
Function
ENG · Endoglin
This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013].
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 192 amino-acid changes on canonical ENST00000373203 · 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 ENG · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ENG – 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% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 15/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 6/210 3% | 20/1899 1% |
| Colorectal Carcinoma | 5/143 4% | 33/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Burkitts Lymphoma | 0/32 0% | 2/196 1% |
| Non-Cancerous | 1/104 1% | 7/830 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 10/1592 1% |
| Bladder Carcinoma | 2/58 3% | 4/956 0% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 9/1390 1% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Head and Neck Carcinoma | 2/85 2% | 6/1574 0% |
| Ovarian Carcinoma | 3/109 3% | 2/998 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 9/2550 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Breast Carcinoma | 3/144 2% | 7/3264 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Prostate Carcinoma | 0/13 0% | 6/2105 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
Mutation Distribution
Where ENG is mutated · all tissues, split by cell line vs tissue
How many mutations in ENG 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 596 mutations in ENG
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 |
|---|