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 | 117 | 16 | 99 |
| Samples | 116 | 16 | 98 |
| Peptides | 84 | 10 | 76 |
Function
CST8 · Cystatin 8
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].
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 |
|---|---|---|---|
| ENST00000246012 | O60676 | 117 | 84 |
Gene Properties
Recurrent Mutations
All 84 amino-acid changes on canonical ENST00000246012 · 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 CST8 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CST8 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Melanoma | 3/210 1% | 12/1899 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Other Solid Cancers | 2/94 2% | 8/1515 1% |
| Endometrial Carcinoma | 0/42 0% | 4/612 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 6/1390 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Hepatocellular Carcinoma | 2/46 4% | 4/2210 0% |
| Colorectal Carcinoma | 0/143 0% | 9/3239 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Breast Carcinoma | 0/144 0% | 8/3264 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Kidney Carcinoma | 2/85 2% | 0/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 2/2640 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
Mutation Distribution
Where CST8 is mutated · all tissues, split by cell line vs tissue
How many mutations in CST8 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 1 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 117 mutations in CST8
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 |
|---|