The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Transcription factors with Perturb-seq knockdown data for PJVK. 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 = PJVK 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 PJVK, 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 |
|---|---|---|---|---|
| chr2:178,193,538–178,195,689 | 258.9 kb | Distal (>10kb) Multiome | 876 | |
| chr2:178,211,552–178,212,360 | 241.1 kb | Distal (>10kb) Multiome | 170 | |
| chr2:178,413,219–178,414,399 | 39.5 kb | Distal (>10kb) Multiome | 734 | |
| chr2:178,414,525–178,415,185 | 38.3 kb | Distal (>10kb) Multiome | 748 | |
| chr2:178,450,146–178,452,280 | 2.1 kb | Proximal (<10kb) Multiome | 1097 | |
| chr2:178,477,968–178,479,684 | 25.6 kb | Distal (>10kb) Multiome | 943 | |
| chr2:178,479,849–178,481,204 | 27.2 kb | Distal (>10kb) Multiome | 786 | |
| chr2:178,522,788–178,524,094 | 69.9 kb | Distal (>10kb) Multiome | 612 |
Genomic view of the PJVK 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.