This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Transcription factors with Perturb-seq knockdown data for PIGV. 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 = PIGV 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 PIGV, 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 |
|---|---|---|---|---|
| chr1:26,500,060–26,501,704 | 286.7 kb | Distal (>10kb) Multiome | 1028 | |
| chr1:26,529,200–26,531,855 | 255.7 kb | Distal (>10kb) Multiome | 703 | |
| chr1:26,620,089–26,621,718 | 166.4 kb | Distal (>10kb) Multiome | 1174 | |
| chr1:26,692,203–26,693,499 | 94.6 kb | Distal (>10kb) Multiome | 974 | |
| chr1:26,695,271–26,696,473 | 91.3 kb | Distal (>10kb) Multiome | 1053 | |
| chr1:26,723,135–26,723,892 | 63.5 kb | Distal (>10kb) Multiome | 671 | |
| chr1:26,784,029–26,784,325 | 2.7 kb | Proximal (<10kb) | 409 | |
| chr1:26,786,686–26,788,664 | 949 bp | At TSS Multiome | 918 | |
| chr1:26,789,212–26,789,430 | 2.2 kb | Proximal (<10kb) | 472 | |
| chr1:26,826,166–26,827,148 | 39.6 kb | Distal (>10kb) Multiome | 510 | |
| chr1:26,862,775–26,863,565 | 75.9 kb | Distal (>10kb) Multiome | 486 | |
| chr1:26,864,355–26,865,945 | 78.1 kb | Distal (>10kb) Multiome | 892 | |
| chr1:26,889,797–26,890,628 | 103.2 kb | Distal (>10kb) Multiome | 906 | |
| chr1:26,899,986–26,900,610 | 113.3 kb | Distal (>10kb) Multiome | 792 | |
| chr1:26,913,478–26,914,582 | 127.2 kb | Distal (>10kb) Multiome | 877 | |
| chr1:26,921,268–26,922,160 | 134.6 kb | Distal (>10kb) Multiome | 838 | |
| chr1:26,959,908–26,960,855 | 173.4 kb | Distal (>10kb) Multiome | 607 | |
| chr1:26,992,986–26,995,593 | 206.6 kb | Distal (>10kb) Multiome | 854 | |
| chr1:26,997,489–26,998,161 | 210.8 kb | Distal (>10kb) Multiome | 550 | |
| chr1:27,010,686–27,011,820 | 224.1 kb | Distal (>10kb) Multiome | 379 | |
| chr1:27,012,151–27,013,639 | 226.0 kb | Distal (>10kb) Multiome | 712 | |
| chr1:27,031,351–27,031,956 | 244.7 kb | Distal (>10kb) Multiome | 260 |
Genomic view of the PIGV 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.