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 | 1,420 | 155 | 1,257 |
| Samples | 451 | 89 | 356 |
| Peptides | 348 | 63 | 286 |
Function
BARD1 · BRCA1 associated RING domain 1
This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013].
Isoforms & Proteins
7 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000260947 | Q99728 | 507 | 315 |
| ENST00000617164 | Q99728-2 | 450 | 285 |
| ENST00000613374 | A0A087X1U2* | 173 | 113 |
| ENST00000619009 | A0A087WZ19* | 145 | 85 |
| ENST00000620057 | Q99728-4 | 82 | 39 |
| ENST00000613706 | A0A087X2H0* | 62 | 24 |
| ENST00000613192 | A0A087X0C6* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 315 amino-acid changes on canonical ENST00000260947 · 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 BARD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BARD1 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 33/133 25% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 18/612 3% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 26/1390 2% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 10/810 1% |
| Melanoma | 11/210 5% | 25/1899 1% |
| Bladder Carcinoma | 0/58 0% | 17/956 2% |
| Neuroendocrine Tumour | 2/154 1% | 10/577 2% |
| Gastric Carcinoma | 3/74 4% | 22/1809 1% |
| Other Solid Cancers | 3/94 3% | 18/1515 1% |
| Colorectal Carcinoma | 6/143 4% | 32/3239 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Carcinoma | 1/23 4% | 7/769 1% |
| Biliary Tract Carcinoma | 2/54 4% | 8/950 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 24/2550 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Head and Neck Carcinoma | 1/85 1% | 14/1574 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Ovarian Carcinoma | 6/109 6% | 3/998 0% |
| Meningioma | 0/3 0% | 2/252 1% |
| Non-Cancerous | 1/104 1% | 6/830 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Breast Carcinoma | 8/144 6% | 12/3264 0% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
Mutation Distribution
Where BARD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in BARD1 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 1,420 mutations in BARD1
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 |
|---|