This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]
Transcription factors with Perturb-seq knockdown data for BRWD1. 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 = BRWD1 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 BRWD1, 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 |
|---|---|---|---|---|
| chr21:38,945,569–38,946,100 | 272.8 kb | Distal (>10kb) Multiome | 116 | |
| chr21:38,979,289–38,980,192 | 239.0 kb | Distal (>10kb) Multiome | 172 | |
| chr21:38,995,212–38,995,827 | 223.1 kb | Distal (>10kb) Multiome | 25 | |
| chr21:39,182,840–39,184,214 | 35.0 kb | Distal (>10kb) Multiome | 1028 | |
| chr21:39,312,364–39,314,680 | 95.2 kb | Distal (>10kb) Multiome | 1121 | |
| chr21:39,332,179–39,332,739 | 113.7 kb | Distal (>10kb) Multiome | 188 | |
| chr21:39,348,209–39,350,114 | 130.6 kb | Distal (>10kb) Multiome | 923 | |
| chr21:39,380,111–39,380,888 | 161.7 kb | Distal (>10kb) Multiome | 663 | |
| chr21:39,387,404–39,389,039 | 170.2 kb | Distal (>10kb) Multiome | 713 | |
| chr21:39,429,900–39,431,278 | 212.0 kb | Distal (>10kb) Multiome | 277 | |
| chr21:39,445,343–39,446,179 | 227.1 kb | Distal (>10kb) Multiome | 837 | |
| chr21:39,451,559–39,452,036 | 233.1 kb | Distal (>10kb) Multiome | 267 |
Genomic view of the BRWD1 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.