This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for PNKP. 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 = PNKP 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 PNKP, 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 |
|---|---|---|---|---|
| chr19:49,580,125–49,580,813 | 287.0 kb | Distal (>10kb) Multiome | 848 | |
| chr19:49,589,601–49,594,008 | 274.0 kb | Distal (>10kb) Multiome | 994 | |
| chr19:49,638,063–49,638,728 | 229.3 kb | Distal (>10kb) Multiome | 237 | |
| chr19:49,639,671–49,642,787 | 227.1 kb | Distal (>10kb) Multiome | 1067 | |
| chr19:49,664,165–49,665,096 | 203.0 kb | Distal (>10kb) Multiome | 679 | |
| chr19:49,665,345–49,666,430 | 201.6 kb | Distal (>10kb) Multiome | 721 | |
| chr19:49,672,105–49,672,787 | 195.2 kb | Distal (>10kb) Multiome | 625 | |
| chr19:49,676,058–49,678,754 | 190.6 kb | Distal (>10kb) Multiome | 1033 | |
| chr19:49,680,433–49,681,147 | 186.8 kb | Distal (>10kb) Multiome | 435 | |
| chr19:49,690,485–49,691,761 | 176.4 kb | Distal (>10kb) Multiome | 327 | |
| chr19:49,746,188–49,746,748 | 121.1 kb | Distal (>10kb) Multiome | 283 | |
| chr19:49,766,231–49,767,440 | 100.9 kb | Distal (>10kb) Multiome | 718 | |
| chr19:49,802,146–49,802,787 | 65.1 kb | Distal (>10kb) Multiome | 200 | |
| chr19:49,805,226–49,805,871 | 62.0 kb | Distal (>10kb) Multiome | 245 | |
| chr19:49,808,201–49,809,746 | 58.6 kb | Distal (>10kb) Multiome | 509 | |
| chr19:49,812,926–49,813,834 | 54.1 kb | Distal (>10kb) Multiome | 650 | |
| chr19:49,817,356–49,818,721 | 49.3 kb | Distal (>10kb) Multiome | 784 | |
| chr19:49,850,394–49,852,067 | 16.7 kb | Distal (>10kb) Multiome | 862 | |
| chr19:49,865,368–49,865,584 | 1.4 kb | Proximal (<10kb) | 187 | |
| chr19:49,866,817–49,868,124 | 178 bp | At TSS Multiome | 874 | |
| chr19:49,869,068–49,870,398 | 2.1 kb | Proximal (<10kb) Multiome | 832 | |
| chr19:49,875,842–49,878,576 | 10.2 kb | Distal (>10kb) Multiome | 1153 | |
| chr19:49,889,853–49,891,381 | 22.9 kb | Distal (>10kb) Multiome | 640 | |
| chr19:49,928,884–49,930,473 | 62.4 kb | Distal (>10kb) Multiome | 1141 | |
| chr19:49,987,157–49,987,669 | 119.8 kb | Distal (>10kb) Multiome | 1095 | |
| chr19:50,024,875–50,026,285 | 158.1 kb | Distal (>10kb) Multiome | 1137 | |
| chr19:50,147,523–50,148,432 | 280.6 kb | Distal (>10kb) Multiome | 615 |
Genomic view of the PNKP 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.