Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
Transcription factors with Perturb-seq knockdown data for CFAP410. 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 = CFAP410 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 CFAP410, 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 |
|---|---|---|---|---|
| chr21:44,283,183–44,283,881 | 55.9 kb | Distal (>10kb) Multiome | 19 | |
| chr21:44,299,485–44,300,902 | 39.4 kb | Distal (>10kb) Multiome | 730 | |
| chr21:44,338,141–44,338,825 | at TSS | At TSS | 449 | |
| chr21:44,338,994–44,339,895 | 144 bp | At TSS Multiome | 904 | |
| chr21:44,341,372–44,342,456 | 2.6 kb | Proximal (<10kb) Multiome | 87 | |
| chr21:44,454,821–44,456,545 | 115.9 kb | Distal (>10kb) Multiome HiCAR | 481 | |
| chr21:44,510,378–44,510,951 | 171.3 kb | Distal (>10kb) Multiome | 473 | |
| chr21:44,801,527–44,802,290 | 462.5 kb | Distal (>10kb) Multiome HiCAR | 818 | |
| chr21:46,323,408–46,325,506 | 1985.1 kb | Distal (>10kb) Multiome HiCAR | 952 |
Genomic view of the CFAP410 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.