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]
Transcription factors with Perturb-seq knockdown data for BARD1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = BARD1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of BARD1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr2:213,283,867–213,285,119 | 1525.3 kb | Distal (>10kb) Multiome HiCAR | 863 | |
| chr2:214,593,496–214,594,272 | 215.8 kb | Distal (>10kb) Multiome | 211 | |
| chr2:214,630,073–214,631,010 | 179.2 kb | Distal (>10kb) Multiome | 172 | |
| chr2:214,802,982–214,803,516 | 6.2 kb | Proximal (<10kb) | 2 | |
| chr2:214,808,156–214,811,140 | 280 bp | At TSS Multiome | 969 | |
| chr2:214,814,232–214,814,439 | 4.5 kb | Proximal (<10kb) | 13 | |
| chr2:215,089,705–215,091,041 | 280.5 kb | Distal (>10kb) Multiome | 134 |
Genomic view of the BARD1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.