This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for CSPP1. 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 = CSPP1 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 CSPP1, 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 |
|---|---|---|---|---|
| chr8:66,774,026–66,775,860 | 287.3 kb | Distal (>10kb) Multiome | 957 | |
| chr8:66,870,495–66,871,236 | 191.6 kb | Distal (>10kb) Multiome | 352 | |
| chr8:66,924,535–66,926,136 | 136.8 kb | Distal (>10kb) Multiome | 998 | |
| chr8:66,961,090–66,963,532 | 99.8 kb | Distal (>10kb) Multiome | 438 | |
| chr8:67,028,419–67,029,071 | 33.8 kb | Distal (>10kb) Multiome | 488 | |
| chr8:67,061,734–67,062,754 | 113 bp | At TSS Multiome | 733 | |
| chr8:67,063,914–67,065,235 | 2.0 kb | Proximal (<10kb) Multiome | 891 | |
| chr8:67,109,497–67,110,469 | 47.6 kb | Distal (>10kb) Multiome | 396 | |
| chr8:67,342,811–67,344,446 | 281.3 kb | Distal (>10kb) Multiome | 722 | |
| chr8:67,368,913–67,370,235 | 306.7 kb | Distal (>10kb) Multiome | 179 |
Genomic view of the CSPP1 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.