The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
Transcription factors with Perturb-seq knockdown data for RSPH3. 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 = RSPH3 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 RSPH3, 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 |
|---|---|---|---|---|
| chr6:158,704,230–158,704,856 | 295.8 kb | Distal (>10kb) Multiome HiCAR | 886 | |
| chr6:158,706,215–158,706,876 | 293.8 kb | Distal (>10kb) Multiome HiCAR | 190 | |
| chr6:158,707,164–158,707,736 | 292.7 kb | Distal (>10kb) Multiome HiCAR | 295 | |
| chr6:158,718,163–158,718,988 | 281.6 kb | Distal (>10kb) Multiome HiCAR | 244 | |
| chr6:158,773,639–158,774,564 | 226.0 kb | Distal (>10kb) Multiome HiCAR | 55 | |
| chr6:158,817,287–158,819,780 | 181.9 kb | Distal (>10kb) Multiome | 1077 | |
| chr6:158,835,350–158,835,822 | 164.5 kb | Distal (>10kb) Multiome | 212 | |
| chr6:158,853,179–158,854,186 | 146.7 kb | Distal (>10kb) Multiome | 879 | |
| chr6:158,869,125–158,870,412 | 130.4 kb | Distal (>10kb) Multiome | 808 | |
| chr6:158,878,392–158,879,559 | 121.4 kb | Distal (>10kb) Multiome | 84 | |
| chr6:158,910,515–158,910,986 | 89.5 kb | Distal (>10kb) Multiome | 244 | |
| chr6:158,994,524–158,994,660 | 5.1 kb | Proximal (<10kb) | 5 | |
| chr6:158,994,914–158,995,128 | 4.7 kb | Proximal (<10kb) | 11 | |
| chr6:158,999,160–159,000,539 | 274 bp | At TSS Multiome | 1122 | |
| chr6:159,103,945–159,104,600 | 104.1 kb | Distal (>10kb) Multiome HiCAR | 318 | |
| chr6:159,168,575–159,170,383 | 169.2 kb | Distal (>10kb) Multiome | 353 | |
| chr6:159,233,512–159,234,391 | 233.7 kb | Distal (>10kb) Multiome | 147 |
Genomic view of the RSPH3 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.