This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
Transcription factors with Perturb-seq knockdown data for BUD23. 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 = BUD23 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 BUD23, 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 |
|---|---|---|---|---|
| chr7:73,423,745–73,424,470 | 259.5 kb | Distal (>10kb) Multiome | 298 | |
| chr7:73,433,411–73,434,685 | 249.8 kb | Distal (>10kb) Multiome | 614 | |
| chr7:73,521,449–73,522,945 | 161.1 kb | Distal (>10kb) Multiome | 977 | |
| chr7:73,556,852–73,558,145 | 126.3 kb | Distal (>10kb) Multiome | 1080 | |
| chr7:73,578,111–73,579,357 | 104.8 kb | Distal (>10kb) Multiome | 765 | |
| chr7:73,612,552–73,613,365 | 70.7 kb | Distal (>10kb) Multiome HiCAR | 733 | |
| chr7:73,622,785–73,623,555 | 60.5 kb | Distal (>10kb) Multiome | 659 | |
| chr7:73,623,956–73,624,915 | 59.0 kb | Distal (>10kb) Multiome | 652 | |
| chr7:73,647,765–73,648,318 | 35.6 kb | Distal (>10kb) Multiome | 506 | |
| chr7:73,667,449–73,668,409 | 15.8 kb | Distal (>10kb) Multiome | 678 | |
| chr7:73,682,807–73,684,039 | 96 bp | At TSS Multiome | 803 | |
| chr7:73,703,674–73,704,431 | 20.5 kb | Distal (>10kb) Multiome | 226 | |
| chr7:73,719,255–73,720,191 | 36.1 kb | Distal (>10kb) Multiome | 478 | |
| chr7:73,734,760–73,735,432 | 51.3 kb | Distal (>10kb) Multiome | 592 | |
| chr7:73,738,048–73,739,612 | 55.4 kb | Distal (>10kb) Multiome | 949 | |
| chr7:73,741,460–73,743,811 | 59.5 kb | Distal (>10kb) Multiome | 604 | |
| chr7:73,769,598–73,771,029 | 86.9 kb | Distal (>10kb) Multiome | 496 | |
| chr7:73,831,659–73,832,518 | 148.7 kb | Distal (>10kb) Multiome | 447 | |
| chr7:73,841,730–73,843,136 | 158.9 kb | Distal (>10kb) Multiome | 575 | |
| chr7:73,885,944–73,886,823 | 202.8 kb | Distal (>10kb) Multiome | 480 |
Genomic view of the BUD23 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.