This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
Transcription factors with Perturb-seq knockdown data for GUSB. 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 = GUSB 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 GUSB, 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 |
|---|---|---|---|---|
| chr7:65,731,509–65,732,049 | 250.4 kb | Distal (>10kb) Multiome | 163 | |
| chr7:65,750,398–65,751,615 | 231.2 kb | Distal (>10kb) Multiome | 754 | |
| chr7:65,770,451–65,770,953 | 211.4 kb | Distal (>10kb) Multiome | 335 | |
| chr7:65,872,688–65,874,131 | 109.1 kb | Distal (>10kb) Multiome | 352 | |
| chr7:65,981,748–65,982,750 | 77 bp | At TSS Multiome | 996 | |
| chr7:66,043,712–66,044,711 | 62.1 kb | Distal (>10kb) Multiome | 136 | |
| chr7:66,075,415–66,076,491 | 93.6 kb | Distal (>10kb) Multiome | 802 | |
| chr7:66,099,334–66,100,655 | 118.0 kb | Distal (>10kb) Multiome | 495 | |
| chr7:66,114,557–66,115,604 | 132.9 kb | Distal (>10kb) Multiome | 958 | |
| chr7:66,204,762–66,205,981 | 223.0 kb | Distal (>10kb) Multiome | 816 |
Genomic view of the GUSB 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.