This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Transcription factors with Perturb-seq knockdown data for ITPR1. 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 = ITPR1 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 ITPR1, 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 |
|---|---|---|---|---|
| chr3:4,302,729–4,304,211 | 190.0 kb | Distal (>10kb) Multiome | 854 | |
| chr3:4,466,545–4,467,641 | 26.2 kb | Distal (>10kb) Multiome | 998 | |
| chr3:4,492,176–4,494,554 | 194 bp | At TSS Multiome | 1013 | |
| chr3:4,512,911–4,513,573 | 19.7 kb | Distal (>10kb) Multiome | 356 | |
| chr3:4,628,901–4,629,960 | 136.1 kb | Distal (>10kb) Multiome | 233 |
Genomic view of the ITPR1 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.