This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
Transcription factors with Perturb-seq knockdown data for PRPF31. 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 = PRPF31 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 PRPF31, 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 |
|---|---|---|---|---|
| chr19:53,865,880–53,866,753 | 249.5 kb | Distal (>10kb) Multiome | 532 | |
| chr19:53,866,887–53,869,891 | 248.1 kb | Distal (>10kb) Multiome | 993 | |
| chr19:53,878,918–53,880,011 | 236.3 kb | Distal (>10kb) Multiome | 561 | |
| chr19:53,881,744–53,882,458 | 233.6 kb | Distal (>10kb) Multiome | 435 | |
| chr19:53,889,715–53,890,286 | 225.8 kb | Distal (>10kb) Multiome | 322 | |
| chr19:53,898,176–53,899,412 | 216.8 kb | Distal (>10kb) Multiome | 212 | |
| chr19:53,907,868–53,908,722 | 207.5 kb | Distal (>10kb) Multiome | 276 | |
| chr19:53,941,849–53,943,229 | 173.3 kb | Distal (>10kb) Multiome | 240 | |
| chr19:53,957,309–53,957,858 | 158.2 kb | Distal (>10kb) Multiome | 97 | |
| chr19:53,977,539–53,979,011 | 137.3 kb | Distal (>10kb) Multiome | 412 | |
| chr19:53,979,770–53,982,403 | 134.5 kb | Distal (>10kb) Multiome | 530 | |
| chr19:53,982,560–53,983,015 | 133.0 kb | Distal (>10kb) Multiome | 119 | |
| chr19:54,095,628–54,096,220 | 19.8 kb | Distal (>10kb) Multiome | 457 | |
| chr19:54,102,597–54,103,302 | 13.0 kb | Distal (>10kb) Multiome | 703 | |
| chr19:54,114,870–54,116,009 | 259 bp | At TSS Multiome | 911 | |
| chr19:54,136,562–54,138,683 | 21.6 kb | Distal (>10kb) Multiome | 751 | |
| chr19:54,159,030–54,160,865 | 44.1 kb | Distal (>10kb) Multiome | 793 | |
| chr19:54,161,897–54,162,738 | 46.6 kb | Distal (>10kb) Multiome | 233 | |
| chr19:54,164,508–54,165,013 | 49.1 kb | Distal (>10kb) Multiome | 183 | |
| chr19:54,172,536–54,173,532 | 57.4 kb | Distal (>10kb) Multiome | 397 | |
| chr19:54,188,192–54,192,172 | 74.2 kb | Distal (>10kb) Multiome | 979 | |
| chr19:54,200,383–54,201,351 | 85.1 kb | Distal (>10kb) Multiome | 891 | |
| chr19:54,208,780–54,209,556 | 93.6 kb | Distal (>10kb) Multiome | 358 | |
| chr19:54,231,547–54,232,136 | 116.1 kb | Distal (>10kb) Multiome | 471 |
Genomic view of the PRPF31 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.