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 | 174 | 47 | 126 |
| Samples | 162 | 41 | 120 |
| Peptides | 136 | 33 | 105 |
Function
SEPHS2 · Selenophosphate synthetase 2
This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017].
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 |
|---|---|---|---|
| ENST00000478753 | Q99611 | 174 | 136 |
Gene Properties
Recurrent Mutations
All 136 amino-acid changes on canonical ENST00000478753 · 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 SEPHS2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SEPHS2 – 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 | 5/40 12% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 9/612 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Colorectal Carcinoma | 10/143 7% | 19/3239 1% |
| Melanoma | 2/210 1% | 13/1899 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 3/1390 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Other Solid Cancers | 0/94 0% | 7/1515 0% |
| Gastric Carcinoma | 1/74 1% | 6/1809 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 8/2550 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Breast Carcinoma | 6/144 4% | 4/3264 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Non-Cancerous | 1/104 1% | 1/830 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 2/2534 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 2/2640 0% |
Mutation Distribution
Where SEPHS2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SEPHS2 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 174 mutations in SEPHS2
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 |
|---|