This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
Transcription factors with Perturb-seq knockdown data for HGSNAT. 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 = HGSNAT 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 HGSNAT, 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 |
|---|---|---|---|---|
| chr8:42,842,552–42,843,812 | 297.2 kb | Distal (>10kb) Multiome | 969 | |
| chr8:42,895,783–42,897,989 | 243.8 kb | Distal (>10kb) Multiome | 792 | |
| chr8:43,055,656–43,057,748 | 84.2 kb | Distal (>10kb) Multiome | 1003 | |
| chr8:43,092,366–43,094,313 | 46.9 kb | Distal (>10kb) Multiome | 903 | |
| chr8:43,138,945–43,139,610 | 1.3 kb | Proximal (<10kb) Multiome | 219 | |
| chr8:43,139,728–43,142,039 | 1.2 kb | Proximal (<10kb) Multiome | 861 |
Genomic view of the HGSNAT 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.