Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
Transcription factors with Perturb-seq knockdown data for MYOF. 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 = MYOF 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 MYOF, 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 |
|---|---|---|---|---|
| chr10:93,198,100–93,199,722 | 283.8 kb | Distal (>10kb) Multiome | 323 | |
| chr10:93,248,667–93,249,274 | 233.4 kb | Distal (>10kb) Multiome | 252 | |
| chr10:93,252,728–93,253,353 | 229.3 kb | Distal (>10kb) Multiome | 21 | |
| chr10:93,272,746–93,273,707 | 209.2 kb | Distal (>10kb) Multiome | 280 | |
| chr10:93,280,194–93,281,735 | 201.4 kb | Distal (>10kb) Multiome | 353 | |
| chr10:93,305,125–93,305,605 | 177.0 kb | Distal (>10kb) Multiome | 88 | |
| chr10:93,316,753–93,317,413 | 165.3 kb | Distal (>10kb) Multiome | 114 | |
| chr10:93,333,260–93,334,502 | 148.6 kb | Distal (>10kb) Multiome | 227 | |
| chr10:93,438,424–93,439,283 | 43.5 kb | Distal (>10kb) Multiome | 284 | |
| chr10:93,440,320–93,441,000 | 41.6 kb | Distal (>10kb) Multiome | 170 | |
| chr10:93,445,505–93,446,138 | 36.6 kb | Distal (>10kb) Multiome | 524 | |
| chr10:93,482,198–93,482,500 | at TSS | At TSS | 391 | |
| chr10:93,482,646–93,482,804 | 312 bp | At TSS | 254 | |
| chr10:93,494,134–93,494,978 | 12.2 kb | Distal (>10kb) Multiome | 27 | |
| chr10:93,495,692–93,496,987 | 14.1 kb | Distal (>10kb) Multiome | 785 | |
| chr10:93,702,336–93,703,002 | 220.3 kb | Distal (>10kb) Multiome | 1036 | |
| chr10:93,748,844–93,749,704 | 267.0 kb | Distal (>10kb) Multiome | 214 |
Genomic view of the MYOF 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.