This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]
Transcription factors with Perturb-seq knockdown data for KIAA0753. 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 = KIAA0753 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 KIAA0753, 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 |
|---|---|---|---|---|
| chr17:5,419,157–5,420,471 | 1220.8 kb | Distal (>10kb) Multiome HiCAR | 891 | |
| chr17:5,468,372–5,469,379 | 1171.7 kb | Distal (>10kb) Multiome HiCAR | 890 | |
| chr17:6,443,586–6,444,814 | 196.4 kb | Distal (>10kb) Multiome | 802 | |
| chr17:6,495,892–6,496,452 | 144.4 kb | Distal (>10kb) Multiome | 104 | |
| chr17:6,556,250–6,556,832 | 84.1 kb | Distal (>10kb) Multiome | 166 | |
| chr17:6,640,233–6,641,593 | 261 bp | At TSS Multiome | 878 | |
| chr17:6,650,954–6,652,333 | 11.0 kb | Distal (>10kb) Multiome | 949 | |
| chr17:6,713,294–6,714,088 | 73.0 kb | Distal (>10kb) Multiome | 535 | |
| chr17:6,831,647–6,832,107 | 191.2 kb | Distal (>10kb) Multiome | 202 |
Genomic view of the KIAA0753 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.