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 | 747 | 119 | 621 |
| Samples | 262 | 56 | 204 |
| Peptides | 206 | 31 | 173 |
Function
BTRC · Beta-transducin repeat containing E3 ubiquitin protein ligase
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012].
Isoforms & Proteins
3 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 197 amino-acid changes on canonical ENST00000370187 · 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 BTRC · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BTRC – 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 | 2/40 5% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 17/612 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 17/1390 1% |
| Neuroendocrine Tumour | 7/154 5% | 2/577 0% |
| Gastric Carcinoma | 2/74 3% | 18/1809 1% |
| Colorectal Carcinoma | 8/143 6% | 28/3239 1% |
| Melanoma | 1/210 0% | 19/1899 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Adrenocortical Carcinoma | 1/3 33% | 0/112 0% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Pancreatic Carcinoma | 0/89 0% | 9/1611 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Ovarian Carcinoma | 3/109 3% | 2/998 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Breast Carcinoma | 3/144 2% | 12/3264 0% |
| Glioma | 2/52 4% | 7/2127 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 4/1592 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Prostate Carcinoma | 1/13 8% | 5/2105 0% |
| Kidney Carcinoma | 2/85 2% | 3/1862 0% |
Mutation Distribution
Where BTRC is mutated · all tissues, split by cell line vs tissue
How many mutations in BTRC 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 747 mutations in BTRC
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 |
|---|