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 | 507 | 85 | 422 |
| Samples | 209 | 44 | 165 |
| Peptides | 177 | 33 | 148 |
Function
SELENON · Selenoprotein N
This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016].
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 157 amino-acid changes on canonical ENST00000361547 · 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 SELENON · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SELENON – 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 |
|---|---|---|
| Endometrial Carcinoma | 0/42 0% | 14/612 2% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Colorectal Carcinoma | 7/143 5% | 26/3239 1% |
| Ewings Sarcoma | 1/63 2% | 2/262 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 6/1390 0% |
| Melanoma | 4/210 2% | 12/1899 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Cervical Carcinoma | 2/35 6% | 1/422 0% |
| Other Solid Cancers | 1/94 1% | 9/1515 1% |
| Gastric Carcinoma | 1/74 1% | 10/1809 1% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Hepatocellular Carcinoma | 2/46 4% | 8/2210 0% |
| Prostate Carcinoma | 0/13 0% | 8/2105 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 8/2550 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Ovarian Carcinoma | 3/109 3% | 0/998 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Breast Carcinoma | 3/144 2% | 5/3264 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Neuroblastoma | 2/87 2% | 1/1331 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 3/2534 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
Mutation Distribution
Where SELENON is mutated · all tissues, split by cell line vs tissue
How many mutations in SELENON 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 507 mutations in SELENON
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 |
|---|