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 | 28 | 20 | 0 |
| Samples | 25 | 20 | 0 |
| Peptides | 27 | 19 | 0 |
Function
SEPTIN7 · Septin 7
This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011].
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 |
|---|---|---|---|
| ENST00000350320 | Q16181 | 28 | 27 |
Gene Properties
Recurrent Mutations
All 27 amino-acid changes on canonical ENST00000350320 · 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 SEPTIN7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SEPTIN7 – 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-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Bladder Carcinoma | 2/58 3% | 0/956 0% |
| Endometrial Carcinoma | 0/42 0% | 1/612 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 0/810 0% |
| Colorectal Carcinoma | 4/143 3% | 0/3239 0% |
| Gastric Carcinoma | 1/74 1% | 1/1809 0% |
| Biliary Tract Carcinoma | 1/54 2% | 0/950 0% |
| Other Blood Cancers | 2/61 3% | 0/2725 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Kidney Carcinoma | 1/85 1% | 0/1862 0% |
| Melanoma | 1/210 0% | 0/1899 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 0/2550 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 0/2534 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where SEPTIN7 is mutated · all tissues, split by cell line vs tissue
How many mutations in SEPTIN7 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.
Mutations
All 28 mutations in SEPTIN7
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 |
|---|