This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for EXT1. 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 = EXT1 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 EXT1, 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 |
|---|---|---|---|---|
| chr8:117,958,893–117,959,598 | 152.7 kb | Distal (>10kb) Multiome HiCAR | 208 | |
| chr8:118,073,868–118,075,439 | 37.3 kb | Distal (>10kb) Multiome | 407 | |
| chr8:118,101,378–118,102,179 | 9.6 kb | Proximal (<10kb) | 187 | |
| chr8:118,103,226–118,103,830 | 8.0 kb | Proximal (<10kb) | 126 | |
| chr8:118,108,881–118,109,294 | 2.5 kb | Proximal (<10kb) | 323 | |
| chr8:118,109,662–118,110,359 | 1.5 kb | Proximal (<10kb) | 227 | |
| chr8:118,110,761–118,113,665 | 81 bp | At TSS Multiome | 813 | |
| chr8:118,116,241–118,116,630 | 4.4 kb | Proximal (<10kb) | 122 | |
| chr8:118,117,996–118,118,499 | 6.2 kb | Proximal (<10kb) | 48 | |
| chr8:118,120,654–118,120,935 | 8.8 kb | Proximal (<10kb) | 167 |
Genomic view of the EXT1 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.