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 | 1,414 | 127 | 1,271 |
| Samples | 472 | 72 | 394 |
| Peptides | 358 | 44 | 320 |
Function
EML1 · EMAP like 1
Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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 338 amino-acid changes on canonical ENST00000262233 · 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 EML1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in EML1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Melanoma | 8/210 4% | 83/1899 4% |
| Endometrial Carcinoma | 3/42 7% | 18/612 3% |
| Other Solid Cancers | 1/94 1% | 36/1515 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Colorectal Carcinoma | 16/143 11% | 59/3239 2% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 13/810 2% |
| Gastric Carcinoma | 4/74 5% | 30/1809 2% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 15/1390 1% |
| Non-Cancerous | 0/104 0% | 13/830 2% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Biliary Tract Carcinoma | 1/54 2% | 9/950 1% |
| Bladder Carcinoma | 1/58 2% | 9/956 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Head and Neck Carcinoma | 0/85 0% | 10/1574 1% |
| Glioma | 0/52 0% | 11/2127 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 11/2550 0% |
| Pancreatic Carcinoma | 0/89 0% | 7/1611 0% |
| Breast Carcinoma | 0/144 0% | 14/3264 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
Mutation Distribution
Where EML1 is mutated · all tissues, split by cell line vs tissue
How many mutations in EML1 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 1,414 mutations in EML1
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 |
|---|