This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
Transcription factors with Perturb-seq knockdown data for TWNK. 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 = TWNK 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 TWNK, 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 |
|---|---|---|---|---|
| chr10:100,715,555–100,715,963 | 271.7 kb | Distal (>10kb) Multiome | 117 | |
| chr10:100,729,074–100,730,178 | 258.1 kb | Distal (>10kb) Multiome | 304 | |
| chr10:100,744,447–100,746,357 | 241.9 kb | Distal (>10kb) Multiome | 379 | |
| chr10:100,912,455–100,913,519 | 74.7 kb | Distal (>10kb) Multiome | 906 | |
| chr10:100,968,950–100,970,567 | 18.2 kb | Distal (>10kb) Multiome | 681 | |
| chr10:100,987,003–100,987,794 | 94 bp | At TSS Multiome | 786 | |
| chr10:100,994,403–100,994,731 | 6.9 kb | Proximal (<10kb) | 101 | |
| chr10:100,996,424–100,998,696 | 9.4 kb | Proximal (<10kb) Multiome | 945 | |
| chr10:100,998,810–101,000,165 | 12.0 kb | Distal (>10kb) Multiome | 845 | |
| chr10:101,018,377–101,019,461 | 31.5 kb | Distal (>10kb) Multiome | 654 | |
| chr10:101,030,588–101,032,521 | 43.6 kb | Distal (>10kb) Multiome | 613 | |
| chr10:101,042,527–101,043,387 | 55.4 kb | Distal (>10kb) Multiome | 655 | |
| chr10:101,048,051–101,048,547 | 60.7 kb | Distal (>10kb) Multiome | 87 | |
| chr10:101,049,966–101,050,753 | 62.8 kb | Distal (>10kb) Multiome | 412 | |
| chr10:101,060,073–101,063,211 | 75.2 kb | Distal (>10kb) Multiome | 1124 | |
| chr10:101,066,181–101,066,983 | 79.0 kb | Distal (>10kb) Multiome | 734 | |
| chr10:101,067,105–101,068,123 | 80.3 kb | Distal (>10kb) Multiome | 643 | |
| chr10:101,095,368–101,096,269 | 108.2 kb | Distal (>10kb) Multiome | 326 | |
| chr10:101,131,094–101,132,387 | 143.8 kb | Distal (>10kb) Multiome | 289 | |
| chr10:101,139,407–101,140,520 | 152.3 kb | Distal (>10kb) Multiome | 158 | |
| chr10:101,161,678–101,162,270 | 174.4 kb | Distal (>10kb) Multiome | 336 | |
| chr10:101,214,601–101,215,378 | 227.4 kb | Distal (>10kb) Multiome | 302 | |
| chr10:101,217,392–101,218,117 | 230.2 kb | Distal (>10kb) Multiome | 203 | |
| chr10:101,236,527–101,237,332 | 249.5 kb | Distal (>10kb) Multiome | 123 | |
| chr10:101,285,534–101,286,046 | 298.3 kb | Distal (>10kb) Multiome | 150 |
Genomic view of the TWNK 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.