Gene Information
|
Gene Name
|
VHL |
|
Gene ID
|
7428
|
|
Gene Full Name
|
von Hippel-Lindau tumor suppressor |
|
Gene Alias
|
HRCA1|RCA1|VHL1|pVHL |
|
Transcripts
|
ENSG00000134086
|
|
Virus
|
HBV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm, Primary cilium;Primary cilium tip, Cytosol; 
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
P40337
|
|
HGNC ID
|
HGNC:12687
|
|
OMIM ID
|
608537 |
|
Summary
|
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] |
Target gene [VHL] related to virus gene/protein/region 
Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section
Target gene [VHL] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE236281
|
RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
|
C GSE35465
|
Chip-seq;RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
|
C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_LIHC_HBV
|
DNA methylation sequencing;RNA-seq |
97 |
TCGA |
|
C GSE270130
|
Chip-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE262515
|
RNA-seq |
21 |
Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus) |
|
GSE110345
|
RNA-seq |
4 |
Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
E GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.
> Dataset: GSE94660 - VHL expression across samples
|
Volcano Plot
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Bar Plot
|
|
|
HBV Target gene Detail Information
