This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for FKRP. 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 = FKRP 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 FKRP, 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 |
|---|---|---|---|---|
| chr19:46,471,149–46,471,898 | 274.5 kb | Distal (>10kb) Multiome | 339 | |
| chr19:46,495,489–46,496,206 | 250.2 kb | Distal (>10kb) Multiome | 177 | |
| chr19:46,587,845–46,588,467 | 157.9 kb | Distal (>10kb) Multiome | 21 | |
| chr19:46,600,411–46,601,577 | 145.0 kb | Distal (>10kb) Multiome | 1006 | |
| chr19:46,633,826–46,635,061 | 111.7 kb | Distal (>10kb) Multiome | 365 | |
| chr19:46,638,437–46,639,929 | 107.0 kb | Distal (>10kb) Multiome | 741 | |
| chr19:46,659,987–46,662,280 | 84.7 kb | Distal (>10kb) Multiome | 691 | |
| chr19:46,696,773–46,698,048 | 48.5 kb | Distal (>10kb) Multiome | 408 | |
| chr19:46,713,710–46,714,718 | 31.9 kb | Distal (>10kb) Multiome | 566 | |
| chr19:46,716,676–46,717,696 | 28.9 kb | Distal (>10kb) Multiome | 487 | |
| chr19:46,745,601–46,746,962 | 362 bp | At TSS Multiome | 561 | |
| chr19:46,787,215–46,789,013 | 42.6 kb | Distal (>10kb) Multiome | 944 | |
| chr19:46,850,211–46,851,336 | 104.8 kb | Distal (>10kb) Multiome | 946 | |
| chr19:46,855,920–46,856,711 | 110.2 kb | Distal (>10kb) Multiome | 610 | |
| chr19:46,859,815–46,861,611 | 114.3 kb | Distal (>10kb) Multiome | 1061 | |
| chr19:47,019,502–47,020,076 | 273.7 kb | Distal (>10kb) Multiome | 188 | |
| chr19:47,035,599–47,036,293 | 289.9 kb | Distal (>10kb) Multiome | 627 |
Genomic view of the FKRP 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.