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 | 529 | 88 | 427 |
| Samples | 253 | 52 | 196 |
| Peptides | 230 | 38 | 192 |
Function
BEST1 · Bestrophin 1
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008].
Isoforms & Proteins
4 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 158 amino-acid changes on canonical ENST00000378043 · 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 BEST1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BEST1 – 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-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 14/612 2% |
| Colorectal Carcinoma | 11/143 8% | 31/3239 1% |
| Ewings Sarcoma | 2/63 3% | 2/262 1% |
| Cervical Carcinoma | 1/35 3% | 4/422 1% |
| Gastric Carcinoma | 4/74 5% | 16/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Melanoma | 2/210 1% | 19/1899 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 13/1592 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 8/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 3/810 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Breast Carcinoma | 2/144 1% | 12/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Kidney Carcinoma | 1/85 1% | 6/1862 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 6/2534 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 7/2550 0% |
| Pancreatic Carcinoma | 0/89 0% | 5/1611 0% |
| Glioma | 1/52 2% | 5/2127 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
Mutation Distribution
Where BEST1 is mutated · all tissues, split by cell line vs tissue
How many mutations in BEST1 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 529 mutations in BEST1
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 |
|---|