This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for PNKD. 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 = PNKD 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 PNKD, 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 |
|---|---|---|---|---|
| chr2:217,978,332–217,979,228 | 291.8 kb | Distal (>10kb) Multiome | 246 | |
| chr2:217,987,861–217,989,008 | 282.1 kb | Distal (>10kb) Multiome | 528 | |
| chr2:218,033,728–218,035,208 | 235.6 kb | Distal (>10kb) Multiome | 270 | |
| chr2:218,068,640–218,069,336 | 201.5 kb | Distal (>10kb) Multiome | 187 | |
| chr2:218,216,755–218,218,281 | 53.4 kb | Distal (>10kb) Multiome | 875 | |
| chr2:218,260,677–218,261,246 | 9.3 kb | Proximal (<10kb) | 103 | |
| chr2:218,269,385–218,270,929 | 192 bp | At TSS Multiome | 913 | |
| chr2:218,272,710–218,273,157 | 2.2 kb | Proximal (<10kb) | 500 | |
| chr2:218,290,037–218,290,611 | 19.8 kb | Distal (>10kb) Multiome | 264 | |
| chr2:218,291,910–218,292,722 | 22.0 kb | Distal (>10kb) Multiome | 695 | |
| chr2:218,322,154–218,324,454 | 52.7 kb | Distal (>10kb) Multiome | 914 | |
| chr2:218,367,421–218,368,194 | 97.4 kb | Distal (>10kb) Multiome | 450 | |
| chr2:218,387,091–218,388,220 | 117.4 kb | Distal (>10kb) Multiome HiCAR | 514 | |
| chr2:218,395,568–218,397,399 | 125.7 kb | Distal (>10kb) Multiome HiCAR | 1048 | |
| chr2:218,397,484–218,401,433 | 127.5 kb | Distal (>10kb) Multiome HiCAR | 1114 | |
| chr2:218,405,424–218,407,478 | 135.9 kb | Distal (>10kb) Multiome | 1093 | |
| chr2:218,567,787–218,569,400 | 298.0 kb | Distal (>10kb) Multiome | 1083 |
Genomic view of the PNKD 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.