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 | 234 | 35 | 196 |
| Samples | 125 | 23 | 100 |
| Peptides | 87 | 14 | 74 |
Function
EFNA1 · Ephrin A1
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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 84 amino-acid changes on canonical ENST00000368407 · 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 EFNA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in EFNA1 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Endometrial Carcinoma | 3/42 7% | 6/612 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 4/810 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 5/1390 0% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Colorectal Carcinoma | 0/143 0% | 14/3239 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 7/2550 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Breast Carcinoma | 0/144 0% | 9/3264 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Melanoma | 1/210 0% | 4/1899 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Other Blood Cancers | 0/61 0% | 4/2725 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Non-Cancerous | 1/104 1% | 0/830 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 1/2534 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
Mutation Distribution
Where EFNA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in EFNA1 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 234 mutations in EFNA1
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 |
|---|