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 | 201 | 40 | 157 |
| Samples | 189 | 40 | 146 |
| Peptides | 135 | 24 | 109 |
Function
BYSL · Bystin like
Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000230340 | Q13895 | 201 | 135 |
Gene Properties
Recurrent Mutations
All 135 amino-acid changes on canonical ENST00000230340 · 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 BYSL · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BYSL – 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 | 2/26 8% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 11/612 2% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Colorectal Carcinoma | 12/143 8% | 21/3239 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 4/810 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Melanoma | 0/210 0% | 15/1899 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Other Solid Cancers | 2/94 2% | 9/1515 1% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Neuroblastoma | 5/87 6% | 2/1331 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 3/1390 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 2/2534 0% |
| Other Blood Cancers | 1/61 2% | 3/2725 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Breast Carcinoma | 1/144 1% | 3/3264 0% |
Mutation Distribution
Where BYSL is mutated · all tissues, split by cell line vs tissue
How many mutations in BYSL 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 201 mutations in BYSL
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 |
|---|