This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
Transcription factors with Perturb-seq knockdown data for SPEG. 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 = SPEG 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 SPEG, 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 |
|---|---|---|---|---|
| chr2:219,159,910–219,161,297 | 281.5 kb | Distal (>10kb) Multiome | 901 | |
| chr2:219,176,168–219,177,450 | 265.2 kb | Distal (>10kb) Multiome | 999 | |
| chr2:219,177,596–219,178,930 | 263.8 kb | Distal (>10kb) Multiome | 930 | |
| chr2:219,206,194–219,207,456 | 235.2 kb | Distal (>10kb) Multiome | 861 | |
| chr2:219,217,908–219,219,751 | 223.1 kb | Distal (>10kb) Multiome | 1058 | |
| chr2:219,228,940–219,230,470 | 212.4 kb | Distal (>10kb) Multiome | 914 | |
| chr2:219,245,074–219,245,804 | 196.6 kb | Distal (>10kb) Multiome | 891 | |
| chr2:219,252,908–219,254,656 | 188.0 kb | Distal (>10kb) Multiome | 808 | |
| chr2:219,277,516–219,280,537 | 162.7 kb | Distal (>10kb) Multiome | 1073 | |
| chr2:219,294,524–219,295,391 | 147.1 kb | Distal (>10kb) Multiome | 892 | |
| chr2:219,308,224–219,309,089 | 133.7 kb | Distal (>10kb) Multiome | 742 | |
| chr2:219,386,994–219,389,117 | 53.8 kb | Distal (>10kb) Multiome | 911 | |
| chr2:219,402,761–219,403,203 | 39.0 kb | Distal (>10kb) Multiome | 234 | |
| chr2:219,418,154–219,419,089 | 23.3 kb | Distal (>10kb) Multiome | 147 | |
| chr2:219,433,920–219,435,459 | 7.9 kb | Proximal (<10kb) Multiome | 315 | |
| chr2:219,441,439–219,442,557 | 95 bp | At TSS Multiome | 338 | |
| chr2:219,447,946–219,449,531 | 6.8 kb | Proximal (<10kb) Multiome | 244 | |
| chr2:219,459,470–219,459,871 | 893 bp | At TSS | 261 | |
| chr2:219,460,578–219,460,976 | at TSS | At TSS | 188 | |
| chr2:219,476,330–219,477,528 | 34.7 kb | Distal (>10kb) Multiome | 373 | |
| chr2:219,484,139–219,485,299 | 42.9 kb | Distal (>10kb) Multiome | 146 | |
| chr2:219,497,658–219,499,313 | 56.7 kb | Distal (>10kb) Multiome | 907 | |
| chr2:219,506,707–219,507,641 | 65.1 kb | Distal (>10kb) Multiome | 205 | |
| chr2:219,509,036–219,510,612 | 68.1 kb | Distal (>10kb) Multiome | 614 | |
| chr2:219,521,083–219,521,760 | 79.3 kb | Distal (>10kb) Multiome HiCAR | 325 | |
| chr2:219,522,621–219,523,337 | 81.0 kb | Distal (>10kb) Multiome HiCAR | 201 | |
| chr2:219,525,558–219,526,393 | 84.0 kb | Distal (>10kb) Multiome HiCAR | 321 | |
| chr2:219,530,046–219,530,655 | 88.3 kb | Distal (>10kb) Multiome HiCAR | 480 | |
| chr2:219,541,583–219,542,284 | 99.8 kb | Distal (>10kb) Multiome | 764 | |
| chr2:219,542,939–219,544,543 | 101.8 kb | Distal (>10kb) Multiome | 981 | |
| chr2:219,551,360–219,553,449 | 110.5 kb | Distal (>10kb) Multiome | 785 | |
| chr2:219,570,096–219,572,421 | 129.6 kb | Distal (>10kb) Multiome | 948 | |
| chr2:219,597,186–219,598,527 | 156.0 kb | Distal (>10kb) Multiome | 955 | |
| chr2:219,627,103–219,628,325 | 185.7 kb | Distal (>10kb) Multiome | 315 | |
| chr2:219,642,343–219,643,046 | 200.6 kb | Distal (>10kb) Multiome | 686 | |
| chr2:219,684,717–219,685,631 | 243.1 kb | Distal (>10kb) Multiome | 403 |
Genomic view of the SPEG 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.