This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Transcription factors with Perturb-seq knockdown data for KIAA0319. 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 = KIAA0319 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 KIAA0319, 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 |
|---|---|---|---|---|
| chr6:24,359,660–24,360,414 | 286.2 kb | Distal (>10kb) Multiome | 591 | |
| chr6:24,399,950–24,401,131 | 245.6 kb | Distal (>10kb) Multiome | 381 | |
| chr6:24,402,665–24,403,713 | 243.1 kb | Distal (>10kb) Multiome | 945 | |
| chr6:24,494,447–24,495,849 | 151.0 kb | Distal (>10kb) Multiome | 946 | |
| chr6:24,645,624–24,646,552 | 32 bp | At TSS Multiome | 641 | |
| chr6:24,666,308–24,667,466 | 20.8 kb | Distal (>10kb) Multiome | 1037 | |
| chr6:24,719,378–24,722,053 | 75.1 kb | Distal (>10kb) Multiome | 1238 | |
| chr6:24,774,256–24,775,895 | 129.0 kb | Distal (>10kb) Multiome | 1073 | |
| chr6:24,910,313–24,911,578 | 264.9 kb | Distal (>10kb) Multiome | 372 |
Genomic view of the KIAA0319 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.