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 | 469 | 54 | 407 |
| Samples | 133 | 26 | 105 |
| Peptides | 136 | 21 | 117 |
Function
BRCC3 · BRCA1/BRCA2-containing complex subunit 3
This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011].
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 104 amino-acid changes on canonical ENST00000330045 · 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 BRCC3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BRCC3 – 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% |
| Endometrial Carcinoma | 2/42 5% | 15/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Melanoma | 4/210 2% | 15/1899 1% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 6/1390 0% |
| Colorectal Carcinoma | 6/143 4% | 13/3239 0% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Meningioma | 0/3 0% | 1/252 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Gastric Carcinoma | 0/74 0% | 5/1809 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Other Solid Cancers | 0/94 0% | 2/1515 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 1/2640 0% |
| Other Blood Cancers | 2/61 3% | 0/2725 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
Mutation Distribution
Where BRCC3 is mutated · all tissues, split by cell line vs tissue
How many mutations in BRCC3 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 469 mutations in BRCC3
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 |
|---|