This gene encodes a central pair protein present in the axonemes of cells with a "9 + 2" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
Transcription factors with Perturb-seq knockdown data for SPAG17. 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 = SPAG17 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 SPAG17, 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 |
|---|---|---|---|---|
| chr1:117,928,693–117,930,803 | 255.6 kb | Distal (>10kb) Multiome | 812 | |
| chr1:118,147,746–118,148,585 | 37.0 kb | Distal (>10kb) Multiome | 123 | |
| chr1:118,184,619–118,185,840 | 30 bp | At TSS Multiome | 480 | |
| chr1:118,984,102–118,984,918 | 799.3 kb | Distal (>10kb) Multiome HiCAR | 178 | |
| chr1:118,987,197–118,988,726 | 803.1 kb | Distal (>10kb) Multiome HiCAR | 267 | |
| chr1:119,326,868–119,328,207 | 1142.4 kb | Distal (>10kb) Multiome HiCAR | 644 |
Genomic view of the SPAG17 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.