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 | 84 | 14 | 70 |
| Samples | 83 | 14 | 69 |
| Peptides | 61 | 10 | 51 |
Function
EDDM3A · Epididymal protein 3A
Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000326842 | Q14507 | 84 | 61 |
Gene Properties
Recurrent Mutations
All 61 amino-acid changes on canonical ENST00000326842 · 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 EDDM3A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in EDDM3A – 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 |
|---|---|---|
| Glioblastoma | 1/98 1% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Melanoma | 1/210 0% | 13/1899 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Endometrial Carcinoma | 0/42 0% | 4/612 1% |
| Other Solid Cancers | 1/94 1% | 5/1515 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 3/1390 0% |
| Colorectal Carcinoma | 1/143 1% | 9/3239 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Gastric Carcinoma | 0/74 0% | 4/1809 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Breast Carcinoma | 0/144 0% | 6/3264 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 0/1592 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Hepatocellular Carcinoma | 1/46 2% | 1/2210 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
Mutation Distribution
Where EDDM3A is mutated · all tissues, split by cell line vs tissue
How many mutations in EDDM3A 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 4 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 84 mutations in EDDM3A
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 |
|---|