This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
Transcription factors with Perturb-seq knockdown data for PNPLA8. 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 = PNPLA8 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 PNPLA8, 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 |
|---|---|---|---|---|
| chr7:108,235,127–108,236,196 | 334.1 kb | Distal (>10kb) Multiome | 417 | |
| chr7:108,454,614–108,457,093 | 113.2 kb | Distal (>10kb) Multiome | 599 | |
| chr7:108,521,893–108,522,657 | 3.5 kb | Proximal (<10kb) | 74 | |
| chr7:108,525,408–108,526,893 | 43.4 kb | Distal (>10kb) Multiome | 984 | |
| chr7:108,529,429–108,529,582 | 3.3 kb | Proximal (<10kb) | 21 | |
| chr7:108,569,085–108,570,878 | 124 bp | At TSS Multiome | 1090 |
Genomic view of the PNPLA8 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.