Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]
Transcription factors with Perturb-seq knockdown data for PKHD1L1. 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 = PKHD1L1 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 PKHD1L1, 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 |
|---|---|---|---|---|
| chr8:109,189,362–109,190,475 | 172.7 kb | Distal (>10kb) Multiome | 169 | |
| chr8:109,333,269–109,335,026 | 28.2 kb | Distal (>10kb) Multiome | 1002 | |
| chr8:109,361,479–109,363,684 | 416 bp | At TSS Multiome | 529 | |
| chr8:109,538,966–109,540,699 | 177.3 kb | Distal (>10kb) Multiome HiCAR | 1183 | |
| chr8:109,643,972–109,645,811 | 282.4 kb | Distal (>10kb) Multiome | 815 |
Genomic view of the PKHD1L1 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.