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 | 270 | 47 | 221 |
| Samples | 268 | 47 | 219 |
| Peptides | 188 | 29 | 167 |
Function
BFSP2 · Beaded filament structural protein 2
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009].
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 |
|---|---|---|---|
| ENST00000302334 | Q13515 | 270 | 188 |
Gene Properties
Recurrent Mutations
All 188 amino-acid changes on canonical ENST00000302334 · 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 BFSP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BFSP2 – 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 |
|---|---|---|
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Melanoma | 4/210 2% | 34/1899 2% |
| Endometrial Carcinoma | 1/42 2% | 9/612 1% |
| Bladder Carcinoma | 3/58 5% | 12/956 1% |
| Colorectal Carcinoma | 10/143 7% | 32/3239 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 9/1390 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 5/752 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Other Solid Cancers | 0/94 0% | 10/1515 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 9/2534 0% |
| Hepatocellular Carcinoma | 1/46 2% | 9/2210 0% |
| Pancreatic Carcinoma | 0/89 0% | 7/1611 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Prostate Carcinoma | 0/13 0% | 6/2105 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where BFSP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in BFSP2 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 25 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 270 mutations in BFSP2
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 |
|---|