This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for AGL. 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 = AGL 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 AGL, 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 |
|---|---|---|---|---|
| chr1:99,786,642–99,787,232 | 63.5 kb | Distal (>10kb) Multiome | 125 | |
| chr1:99,835,815–99,836,689 | 14.0 kb | Distal (>10kb) Multiome | 129 | |
| chr1:99,845,046–99,845,513 | 4.8 kb | Proximal (<10kb) | 78 | |
| chr1:99,849,521–99,850,730 | 182 bp | At TSS Multiome | 968 | |
| chr1:99,944,156–99,945,039 | 94.3 kb | Distal (>10kb) Multiome | 68 | |
| chr1:99,950,389–99,951,124 | 100.3 kb | Distal (>10kb) Multiome | 109 | |
| chr1:99,951,388–99,951,903 | 101.3 kb | Distal (>10kb) Multiome | 18 | |
| chr1:99,959,336–99,959,871 | 109.2 kb | Distal (>10kb) Multiome | 103 | |
| chr1:99,969,317–99,970,703 | 119.8 kb | Distal (>10kb) Multiome | 1091 | |
| chr1:100,037,569–100,039,066 | 187.8 kb | Distal (>10kb) Multiome | 979 | |
| chr1:100,048,184–100,049,196 | 198.4 kb | Distal (>10kb) Multiome | 234 | |
| chr1:100,132,347–100,133,463 | 282.6 kb | Distal (>10kb) Multiome | 947 |
Genomic view of the AGL 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.