The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
Transcription factors with Perturb-seq knockdown data for PREPL. 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 = PREPL 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 PREPL, 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 |
|---|---|---|---|---|
| chr2:44,086,758–44,087,671 | 274.2 kb | Distal (>10kb) Multiome | 648 | |
| chr2:44,167,415–44,169,762 | 193.5 kb | Distal (>10kb) Multiome | 1028 | |
| chr2:44,361,086–44,362,690 | 336 bp | At TSS Multiome | 985 | |
| chr2:44,430,133–44,430,674 | 69.0 kb | Distal (>10kb) Multiome | 78 | |
| chr2:44,928,632–44,930,007 | 567.9 kb | Distal (>10kb) Multiome HiCAR | 186 | |
| chr2:44,937,044–44,939,675 | 576.2 kb | Distal (>10kb) Multiome HiCAR | 512 | |
| chr2:44,949,379–44,950,322 | 588.4 kb | Distal (>10kb) Multiome HiCAR | 186 | |
| chr2:44,951,821–44,953,211 | 590.9 kb | Distal (>10kb) Multiome HiCAR | 430 | |
| chr2:44,955,189–44,956,345 | 594.3 kb | Distal (>10kb) Multiome HiCAR | 554 |
Genomic view of the PREPL 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.