This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for RYR1. 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 = RYR1 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 RYR1, 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 |
|---|---|---|---|---|
| chr19:38,183,265–38,183,970 | 250.0 kb | Distal (>10kb) Multiome | 156 | |
| chr19:38,223,967–38,224,571 | 209.4 kb | Distal (>10kb) Multiome | 677 | |
| chr19:38,229,570–38,230,021 | 203.9 kb | Distal (>10kb) Multiome | 354 | |
| chr19:38,255,918–38,256,778 | 177.2 kb | Distal (>10kb) Multiome | 371 | |
| chr19:38,263,873–38,265,423 | 169.2 kb | Distal (>10kb) Multiome | 590 | |
| chr19:38,304,071–38,305,583 | 128.5 kb | Distal (>10kb) Multiome | 531 | |
| chr19:38,315,514–38,316,642 | 117.7 kb | Distal (>10kb) Multiome | 747 | |
| chr19:38,319,279–38,320,342 | 113.8 kb | Distal (>10kb) Multiome | 359 | |
| chr19:38,335,358–38,337,514 | 97.9 kb | Distal (>10kb) Multiome | 898 | |
| chr19:38,361,454–38,362,809 | 71.6 kb | Distal (>10kb) Multiome | 604 | |
| chr19:38,374,176–38,375,269 | 59.1 kb | Distal (>10kb) Multiome | 1041 | |
| chr19:38,385,485–38,386,937 | 47.7 kb | Distal (>10kb) Multiome | 156 | |
| chr19:38,387,065–38,389,471 | 45.6 kb | Distal (>10kb) Multiome | 591 | |
| chr19:38,394,369–38,395,035 | 39.0 kb | Distal (>10kb) Multiome | 191 | |
| chr19:38,402,504–38,403,738 | 30.6 kb | Distal (>10kb) Multiome | 940 | |
| chr19:38,417,766–38,418,568 | 15.6 kb | Distal (>10kb) Multiome | 407 | |
| chr19:38,433,479–38,433,876 | at TSS | At TSS | 192 | |
| chr19:38,434,539–38,435,128 | 1.2 kb | Proximal (<10kb) Multiome | 238 | |
| chr19:38,441,760–38,441,947 | 8.1 kb | Proximal (<10kb) | 117 | |
| chr19:38,452,620–38,453,510 | 19.5 kb | Distal (>10kb) Multiome | 355 | |
| chr19:38,506,710–38,507,745 | 73.6 kb | Distal (>10kb) Multiome | 369 | |
| chr19:38,514,956–38,515,568 | 81.6 kb | Distal (>10kb) Multiome | 404 | |
| chr19:38,565,090–38,565,701 | 131.7 kb | Distal (>10kb) Multiome | 164 | |
| chr19:38,595,857–38,597,322 | 162.7 kb | Distal (>10kb) Multiome | 478 | |
| chr19:38,617,752–38,619,569 | 185.3 kb | Distal (>10kb) Multiome | 835 | |
| chr19:38,647,137–38,648,653 | 213.9 kb | Distal (>10kb) Multiome | 856 | |
| chr19:38,666,103–38,666,668 | 232.6 kb | Distal (>10kb) Multiome | 317 | |
| chr19:38,683,677–38,684,144 | 250.0 kb | Distal (>10kb) Multiome | 678 |
Genomic view of the RYR1 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.