This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
Transcription factors with Perturb-seq knockdown data for CHCHD10. 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 = CHCHD10 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 CHCHD10, 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 |
|---|---|---|---|---|
| chr22:23,521,254–23,522,503 | 246.1 kb | Distal (>10kb) Multiome | 794 | |
| chr22:23,537,973–23,538,579 | 229.8 kb | Distal (>10kb) Multiome | 90 | |
| chr22:23,716,825–23,717,722 | 50.6 kb | Distal (>10kb) Multiome | 846 | |
| chr22:23,750,563–23,751,795 | 16.9 kb | Distal (>10kb) Multiome | 687 | |
| chr22:23,766,697–23,767,161 | 810 bp | At TSS | 335 | |
| chr22:23,767,199–23,768,799 | 226 bp | At TSS Multiome | 812 | |
| chr22:23,771,024–23,771,248 | 3.1 kb | Proximal (<10kb) | 159 | |
| chr22:23,772,486–23,773,491 | 4.9 kb | Proximal (<10kb) Multiome | 415 | |
| chr22:23,786,359–23,787,793 | 19.3 kb | Distal (>10kb) Multiome | 723 | |
| chr22:23,789,208–23,789,944 | 21.5 kb | Distal (>10kb) Multiome | 146 | |
| chr22:23,804,750–23,805,326 | 37.0 kb | Distal (>10kb) Multiome | 44 | |
| chr22:23,838,611–23,839,672 | 71.2 kb | Distal (>10kb) Multiome | 472 | |
| chr22:23,849,291–23,849,993 | 81.7 kb | Distal (>10kb) Multiome HiCAR | 577 | |
| chr22:23,856,822–23,858,514 | 89.8 kb | Distal (>10kb) Multiome HiCAR | 735 | |
| chr22:23,893,788–23,895,770 | 127.6 kb | Distal (>10kb) Multiome | 932 | |
| chr22:23,913,645–23,914,284 | 146.1 kb | Distal (>10kb) Multiome | 787 | |
| chr22:23,956,273–23,956,867 | 188.6 kb | Distal (>10kb) Multiome | 182 | |
| chr22:24,010,924–24,011,936 | 243.3 kb | Distal (>10kb) Multiome | 796 |
Genomic view of the CHCHD10 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.