This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. In addition to oxygen-related gene expression, this protein plays a role in many other cellular processes including cilia formation, cytokine signaling, regulation of senescence, and formation of the extracellular matrix. Variants of this gene are associated with von Hippel-Lindau syndrome, pheochromocytoma, erythrocytosis, renal cell carcinoma, and cerebellar hemangioblastoma. [provided by RefSeq, Jun 2022]
Transcription factors with Perturb-seq knockdown data for VHL. 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 = VHL 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 VHL, 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 |
|---|---|---|---|---|
| chr3:9,843,116–9,844,397 | 297.8 kb | Distal (>10kb) Multiome | 787 | |
| chr3:9,862,465–9,863,231 | 279.0 kb | Distal (>10kb) Multiome | 581 | |
| chr3:9,890,247–9,891,058 | 251.2 kb | Distal (>10kb) Multiome | 969 | |
| chr3:9,902,504–9,903,128 | 239.0 kb | Distal (>10kb) Multiome | 396 | |
| chr3:9,914,983–9,916,160 | 226.6 kb | Distal (>10kb) Multiome | 668 | |
| chr3:9,916,644–9,917,412 | 224.7 kb | Distal (>10kb) Multiome | 519 | |
| chr3:9,932,470–9,934,327 | 209.0 kb | Distal (>10kb) Multiome | 1035 | |
| chr3:9,946,152–9,947,739 | 195.2 kb | Distal (>10kb) Multiome | 898 | |
| chr3:9,951,898–9,952,503 | 189.5 kb | Distal (>10kb) Multiome | 484 | |
| chr3:9,986,547–9,987,409 | 154.9 kb | Distal (>10kb) Multiome | 907 | |
| chr3:10,008,678–10,009,458 | 132.7 kb | Distal (>10kb) Multiome | 240 | |
| chr3:10,010,580–10,011,700 | 130.6 kb | Distal (>10kb) Multiome | 540 | |
| chr3:10,025,904–10,026,762 | 115.4 kb | Distal (>10kb) Multiome | 871 | |
| chr3:10,115,394–10,116,145 | 26.2 kb | Distal (>10kb) Multiome | 809 | |
| chr3:10,141,441–10,142,425 | 24 bp | At TSS Multiome | 894 | |
| chr3:10,164,557–10,165,625 | 23.1 kb | Distal (>10kb) Multiome | 718 | |
| chr3:10,226,242–10,226,711 | 84.7 kb | Distal (>10kb) Multiome HiCAR | 88 | |
| chr3:10,234,612–10,235,203 | 93.2 kb | Distal (>10kb) Multiome | 122 | |
| chr3:10,248,095–10,249,643 | 106.6 kb | Distal (>10kb) Multiome | 892 | |
| chr3:10,263,882–10,264,353 | 122.3 kb | Distal (>10kb) Multiome | 139 | |
| chr3:10,316,093–10,316,808 | 174.7 kb | Distal (>10kb) Multiome | 50 | |
| chr3:10,320,481–10,321,504 | 179.3 kb | Distal (>10kb) Multiome | 955 |
Genomic view of the VHL 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.