6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Transcription factors with Perturb-seq knockdown data for PGD. 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 = PGD 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 PGD, 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 |
|---|---|---|---|---|
| chr1:10,209,800–10,211,585 | 188.6 kb | Distal (>10kb) Multiome | 934 | |
| chr1:10,398,334–10,400,006 | 17 bp | At TSS Multiome | 1064 | |
| chr1:10,430,062–10,431,244 | 31.6 kb | Distal (>10kb) Multiome | 1007 | |
| chr1:10,472,017–10,472,900 | 73.5 kb | Distal (>10kb) Multiome | 872 | |
| chr1:10,474,760–10,475,474 | 76.0 kb | Distal (>10kb) Multiome | 744 | |
| chr1:10,638,357–10,639,497 | 240.1 kb | Distal (>10kb) Multiome | 126 | |
| chr1:10,679,481–10,679,929 | 280.8 kb | Distal (>10kb) Multiome | 463 | |
| chr1:10,693,857–10,695,287 | 295.7 kb | Distal (>10kb) Multiome | 382 |
Genomic view of the PGD 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.