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 | 3,304 | 505 | 2,764 |
| Samples | 1,172 | 238 | 918 |
| Peptides | 946 | 178 | 792 |
Function
SCN7A · Sodium voltage-gated channel alpha subunit 7
This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011].
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 928 amino-acid changes on canonical ENST00000643258 · 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 SCN7A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SCN7A – 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 |
|---|---|---|
| Melanoma | 30/210 14% | 162/1899 9% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 41/612 7% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 51/304 17% | 58/1390 4% |
| Other Solid Cancers | 11/94 12% | 77/1515 5% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 39/810 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Colorectal Carcinoma | 31/143 22% | 110/3239 3% |
| Neuroendocrine Tumour | 17/154 11% | 8/577 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 26/752 3% |
| Cervical Carcinoma | 1/35 3% | 14/422 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Gastric Carcinoma | 7/74 9% | 45/1809 2% |
| Hepatocellular Carcinoma | 4/46 9% | 50/2210 2% |
| Non-Cancerous | 4/104 4% | 18/830 2% |
| Plasma Cell Myeloma | 3/44 7% | 5/305 2% |
| Mesothelioma | 4/62 6% | 1/165 1% |
| Osteosarcoma | 0/45 0% | 4/166 2% |
| Head and Neck Carcinoma | 1/85 1% | 30/1574 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Biliary Tract Carcinoma | 2/54 4% | 16/950 2% |
| Bladder Carcinoma | 1/58 2% | 17/956 2% |
| Ovarian Carcinoma | 2/109 2% | 17/998 2% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Other Sarcomas | 3/69 4% | 7/699 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 31/2550 1% |
Mutation Distribution
Where SCN7A is mutated · all tissues, split by cell line vs tissue
How many mutations in SCN7A 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 3,304 mutations in SCN7A
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 |
|---|