This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NAGLU. 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 = NAGLU 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 NAGLU, 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 |
|---|---|---|---|---|
| chr17:42,016,953–42,018,102 | 518.8 kb | Distal (>10kb) Multiome HiCAR | 991 | |
| chr17:42,019,726–42,020,334 | 516.2 kb | Distal (>10kb) Multiome HiCAR | 791 | |
| chr17:42,275,506–42,277,052 | 259.9 kb | Distal (>10kb) Multiome | 892 | |
| chr17:42,288,257–42,288,808 | 247.7 kb | Distal (>10kb) Multiome | 449 | |
| chr17:42,312,237–42,312,887 | 223.8 kb | Distal (>10kb) Multiome | 774 | |
| chr17:42,387,693–42,389,289 | 147.6 kb | Distal (>10kb) Multiome | 1178 | |
| chr17:42,389,749–42,390,415 | 146.1 kb | Distal (>10kb) Multiome | 95 | |
| chr17:42,422,618–42,423,513 | 113.1 kb | Distal (>10kb) Multiome | 765 | |
| chr17:42,527,313–42,527,716 | 8.5 kb | Proximal (<10kb) | 392 | |
| chr17:42,530,910–42,531,092 | 5.1 kb | Proximal (<10kb) | 389 | |
| chr17:42,531,503–42,532,256 | 4.3 kb | Proximal (<10kb) Multiome | 571 | |
| chr17:42,535,863–42,536,855 | 83 bp | At TSS Multiome | 987 | |
| chr17:42,547,934–42,548,909 | 12.2 kb | Distal (>10kb) Multiome | 325 | |
| chr17:42,554,285–42,555,164 | 18.5 kb | Distal (>10kb) Multiome | 899 | |
| chr17:42,561,770–42,562,376 | 25.8 kb | Distal (>10kb) Multiome | 905 | |
| chr17:42,566,552–42,567,732 | 30.8 kb | Distal (>10kb) Multiome | 902 | |
| chr17:42,577,421–42,578,281 | 41.5 kb | Distal (>10kb) Multiome | 884 | |
| chr17:42,578,382–42,578,892 | 42.5 kb | Distal (>10kb) Multiome | 477 | |
| chr17:42,608,764–42,610,335 | 73.3 kb | Distal (>10kb) Multiome | 909 | |
| chr17:42,658,938–42,659,852 | 123.1 kb | Distal (>10kb) Multiome | 734 | |
| chr17:42,669,472–42,671,112 | 134.5 kb | Distal (>10kb) Multiome | 230 | |
| chr17:42,673,584–42,674,462 | 137.8 kb | Distal (>10kb) Multiome | 296 | |
| chr17:42,674,847–42,675,579 | 139.0 kb | Distal (>10kb) Multiome | 194 | |
| chr17:42,676,055–42,678,790 | 140.9 kb | Distal (>10kb) Multiome | 1070 | |
| chr17:42,679,005–42,680,519 | 143.7 kb | Distal (>10kb) Multiome | 654 | |
| chr17:42,682,736–42,683,400 | 146.5 kb | Distal (>10kb) Multiome | 480 | |
| chr17:42,744,352–42,745,375 | 208.7 kb | Distal (>10kb) Multiome | 966 | |
| chr17:42,761,003–42,761,468 | 224.8 kb | Distal (>10kb) Multiome | 335 | |
| chr17:42,780,029–42,780,899 | 244.3 kb | Distal (>10kb) Multiome | 712 | |
| chr17:42,798,408–42,798,877 | 262.5 kb | Distal (>10kb) Multiome | 866 | |
| chr17:42,823,968–42,824,503 | 288.1 kb | Distal (>10kb) Multiome | 829 | |
| chr17:42,832,889–42,833,841 | 297.1 kb | Distal (>10kb) Multiome | 980 |
Genomic view of the NAGLU 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.