This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for PIP5K1C. 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 = PIP5K1C 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 PIP5K1C, 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 |
|---|---|---|---|---|
| chr19:3,434,837–3,435,636 | 265.3 kb | Distal (>10kb) Multiome | 777 | |
| chr19:3,441,686–3,442,206 | 258.5 kb | Distal (>10kb) Multiome | 86 | |
| chr19:3,444,085–3,444,710 | 256.0 kb | Distal (>10kb) Multiome | 150 | |
| chr19:3,500,403–3,501,074 | 199.7 kb | Distal (>10kb) Multiome | 886 | |
| chr19:3,505,575–3,507,061 | 194.4 kb | Distal (>10kb) Multiome | 838 | |
| chr19:3,557,019–3,558,238 | 142.8 kb | Distal (>10kb) Multiome | 811 | |
| chr19:3,572,147–3,574,664 | 127.8 kb | Distal (>10kb) Multiome | 737 | |
| chr19:3,576,363–3,578,543 | 122.2 kb | Distal (>10kb) Multiome | 346 | |
| chr19:3,606,342–3,607,177 | 93.6 kb | Distal (>10kb) Multiome | 377 | |
| chr19:3,626,518–3,627,304 | 73.4 kb | Distal (>10kb) Multiome | 833 | |
| chr19:3,699,968–3,700,899 | 52 bp | At TSS Multiome | 489 | |
| chr19:3,721,462–3,721,997 | 21.2 kb | Distal (>10kb) Multiome | 760 | |
| chr19:3,722,652–3,723,093 | 22.5 kb | Distal (>10kb) Multiome | 106 | |
| chr19:3,761,103–3,762,150 | 61.1 kb | Distal (>10kb) Multiome | 839 | |
| chr19:3,762,300–3,763,344 | 62.4 kb | Distal (>10kb) Multiome | 817 | |
| chr19:3,786,012–3,786,456 | 85.7 kb | Distal (>10kb) Multiome | 237 | |
| chr19:3,868,451–3,869,181 | 168.5 kb | Distal (>10kb) Multiome | 233 | |
| chr19:3,932,937–3,933,664 | 232.8 kb | Distal (>10kb) Multiome | 198 | |
| chr19:3,968,623–3,969,280 | 268.4 kb | Distal (>10kb) Multiome | 547 | |
| chr19:3,970,535–3,971,713 | 270.8 kb | Distal (>10kb) Multiome | 728 | |
| chr19:3,985,032–3,985,862 | 285.0 kb | Distal (>10kb) Multiome | 932 | |
| chr19:3,987,682–3,988,217 | 287.5 kb | Distal (>10kb) Multiome | 346 |
Genomic view of the PIP5K1C 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.