This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for EOGT. 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 = EOGT 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 EOGT, 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 |
|---|---|---|---|---|
| chr3:68,931,297–68,933,078 | 81.1 kb | Distal (>10kb) Multiome | 419 | |
| chr3:69,008,935–69,010,149 | 3.5 kb | Proximal (<10kb) | 309 | |
| chr3:69,012,112–69,014,102 | 58 bp | At TSS Multiome | 935 | |
| chr3:69,079,501–69,080,755 | 66.7 kb | Distal (>10kb) Multiome | 569 | |
| chr3:69,084,409–69,085,904 | 71.3 kb | Distal (>10kb) Multiome | 707 | |
| chr3:69,288,126–69,288,883 | 274.8 kb | Distal (>10kb) Multiome | 254 | |
| chr3:69,290,108–69,290,999 | 277.0 kb | Distal (>10kb) Multiome | 171 |
Genomic view of the EOGT 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.