The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for OBSCN. 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 = OBSCN 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 OBSCN, 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 |
|---|---|---|---|---|
| chr1:227,946,348–227,948,809 | 266.9 kb | Distal (>10kb) Multiome | 645 | |
| chr1:228,004,351–228,004,883 | 209.1 kb | Distal (>10kb) Multiome | 154 | |
| chr1:228,058,680–228,061,126 | 153.8 kb | Distal (>10kb) Multiome | 377 | |
| chr1:228,081,634–228,083,952 | 131.0 kb | Distal (>10kb) Multiome | 942 | |
| chr1:228,085,140–228,085,832 | 128.1 kb | Distal (>10kb) Multiome | 276 | |
| chr1:228,101,882–228,103,743 | 111.4 kb | Distal (>10kb) Multiome | 929 | |
| chr1:228,108,924–228,110,105 | 104.2 kb | Distal (>10kb) Multiome | 958 | |
| chr1:228,130,684–228,131,457 | 82.5 kb | Distal (>10kb) Multiome | 488 | |
| chr1:228,139,579–228,140,870 | 73.5 kb | Distal (>10kb) Multiome | 931 | |
| chr1:228,164,898–228,166,840 | 47.8 kb | Distal (>10kb) Multiome | 1011 | |
| chr1:228,174,477–228,174,893 | 39.0 kb | Distal (>10kb) Multiome | 254 | |
| chr1:228,212,247–228,214,390 | 70 bp | At TSS Multiome | 604 | |
| chr1:228,275,524–228,276,595 | 62.5 kb | Distal (>10kb) Multiome | 428 | |
| chr1:228,378,133–228,379,597 | 165.0 kb | Distal (>10kb) Multiome | 515 | |
| chr1:228,406,106–228,407,568 | 193.4 kb | Distal (>10kb) Multiome | 753 | |
| chr1:228,416,050–228,416,929 | 202.9 kb | Distal (>10kb) Multiome | 279 | |
| chr1:228,457,070–228,458,723 | 244.2 kb | Distal (>10kb) Multiome | 800 | |
| chr1:228,458,870–228,459,670 | 245.8 kb | Distal (>10kb) Multiome | 503 | |
| chr1:228,464,228–228,465,055 | 251.2 kb | Distal (>10kb) Multiome | 204 | |
| chr1:228,486,589–228,487,963 | 273.6 kb | Distal (>10kb) Multiome | 1041 |
Genomic view of the OBSCN 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.