This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for IQCB1. 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 = IQCB1 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 IQCB1, 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 |
|---|---|---|---|---|
| chr3:121,545,326–121,546,305 | 289.1 kb | Distal (>10kb) Multiome | 673 | |
| chr3:121,593,261–121,593,964 | 241.5 kb | Distal (>10kb) Multiome | 230 | |
| chr3:121,749,162–121,750,214 | 85.2 kb | Distal (>10kb) Multiome | 874 | |
| chr3:121,834,395–121,835,766 | 121 bp | At TSS Multiome | 839 | |
| chr3:121,894,283–121,894,849 | 59.5 kb | Distal (>10kb) Multiome | 105 | |
| chr3:122,021,702–122,022,458 | 187.1 kb | Distal (>10kb) Multiome | 376 |
Genomic view of the IQCB1 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.