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 | 1,165 | 159 | 998 |
| Samples | 242 | 57 | 182 |
| Peptides | 207 | 44 | 165 |
Function
EDN3 · Endothelin 3
The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014].
Isoforms & Proteins
6 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 167 amino-acid changes on canonical ENST00000337938 · 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 EDN3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in EDN3 – 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 Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Melanoma | 1/210 0% | 43/1899 2% |
| Endometrial Carcinoma | 2/42 5% | 11/612 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 7/810 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 16/1390 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Neuroendocrine Tumour | 6/154 4% | 1/577 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 6/752 1% |
| Colorectal Carcinoma | 8/143 6% | 21/3239 1% |
| Hepatocellular Carcinoma | 3/46 7% | 13/2210 1% |
| Gastric Carcinoma | 2/74 3% | 11/1809 1% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Bladder Carcinoma | 1/58 2% | 2/956 0% |
| Biliary Tract Carcinoma | 1/54 2% | 2/950 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Pancreatic Carcinoma | 2/89 2% | 2/1611 0% |
| Glioma | 2/52 4% | 3/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| B-Lymphoblastic Leukemia | 5/55 9% | 0/2640 0% |
| Breast Carcinoma | 1/144 1% | 5/3264 0% |
Mutation Distribution
Where EDN3 is mutated · all tissues, split by cell line vs tissue
How many mutations in EDN3 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 53 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 1,165 mutations in EDN3
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 |
|---|