This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]
Transcription factors with Perturb-seq knockdown data for VAC14. 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 = VAC14 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 VAC14, 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 |
|---|---|---|---|---|
| chr16:70,523,103–70,524,281 | 277.5 kb | Distal (>10kb) Multiome | 903 | |
| chr16:70,679,595–70,680,466 | 121.0 kb | Distal (>10kb) Multiome | 216 | |
| chr16:70,685,497–70,686,558 | 115.1 kb | Distal (>10kb) Multiome | 655 | |
| chr16:70,800,702–70,801,519 | 22 bp | At TSS Multiome | 768 | |
| chr16:71,358,510–71,359,053 | 557.5 kb | Distal (>10kb) Multiome HiCAR | 387 | |
| chr16:71,412,167–71,413,209 | 611.5 kb | Distal (>10kb) Multiome HiCAR | 349 |
Genomic view of the VAC14 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.