This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for QDPR. 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 = QDPR 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 QDPR, 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 |
|---|---|---|---|---|
| chr4:17,511,108–17,512,753 | 71 bp | At TSS Multiome | 724 | |
| chr4:17,517,732–17,518,059 | 5.7 kb | Proximal (<10kb) | 52 | |
| chr4:17,576,452–17,578,383 | 65.2 kb | Distal (>10kb) Multiome | 874 | |
| chr4:17,613,634–17,615,353 | 102.5 kb | Distal (>10kb) Multiome | 740 | |
| chr4:17,636,469–17,637,277 | 124.9 kb | Distal (>10kb) Multiome | 322 | |
| chr4:17,780,838–17,782,239 | 269.6 kb | Distal (>10kb) Multiome | 374 | |
| chr4:17,810,219–17,811,664 | 298.8 kb | Distal (>10kb) Multiome | 935 |
Genomic view of the QDPR 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.