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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for VHL |
 Gene summary |
| Gene information | Gene symbol | VHL | Gene ID | 7428 |
| Gene name | von Hippel-Lindau tumor suppressor | |
| Synonyms | HRCA1|RCA1|VHL1|pVHL | |
| Cytomap | 3p25.3 | |
| Type of gene | protein-coding | |
| Description | von Hippel-Lindau disease tumor suppressorelongin binding proteinprotein G7von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | |
| Modification date | 20180523 | |
| UniProtAcc | P40337 | |
| Context | PubMed: VHL [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| VHL | GO:0016567 | protein ubiquitination | 24899725 |
| VHL | GO:0061428 | negative regulation of transcription from RNA polymerase II promoter in response to hypoxia | 11641274 |
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Exon skipping events across known transcript of Ensembl for VHL from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for VHL |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for VHL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371648 | 3 | 10184446:10184705:10188197:10188320:10191470:10191829 | 10188197:10188320 | ENSG00000134086.7 | ENST00000477538.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VHL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371648 | 3 | 10184446:10184705:10188197:10188320:10191470:10191829 | 10188197:10188320 | ENSG00000134086.7 | ENST00000477538.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for VHL |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for VHL |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for VHL |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| KIRC | TCGA-BP-4989-01 | exon_skip_371648 | 10188198 | 10188320 | 10188202 | 10188202 | Frame_Shift_Del | C | - | p.H115fs |
| KIRC | TCGA-CZ-5989-01 | exon_skip_371648 | 10188198 | 10188320 | 10188202 | 10188212 | Frame_Shift_Del | CCTTTGGCTCT | - | p.115_118del |
| KIRC | TCGA-CZ-5989-01 | exon_skip_371648 | 10188198 | 10188320 | 10188202 | 10188212 | Frame_Shift_Del | CCTTTGGCTCT | - | p.HLWLF115fs |
| KIRC | TCGA-AK-3455-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188204 | Frame_Shift_Del | T | - | p.L116fs |
| KIRC | TCGA-B0-4823-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188205 | Frame_Shift_Del | TT | - | p.116_116del |
| KIRC | TCGA-B0-4823-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188205 | Frame_Shift_Del | TT | - | p.L116fs |
| KIRC | TCGA-BP-5174-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188219 | Frame_Shift_Del | TTTGGCTCTTCAGAGA | - | p.116_121del |
| KIRC | TCGA-BP-5174-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188219 | Frame_Shift_Del | TTTGGCTCTTCAGAGA | - | p.LWLFRD116fs |
| KIRC | TCGA-BP-5174-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188220 | Frame_Shift_Del | TTTGGCTCTTCAGAGAT | - | p.116_121del |
| KIRC | TCGA-CJ-4637-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188204 | Frame_Shift_Del | T | - | p.L116fs |
| KIRC | TCGA-CJ-4912-01 | exon_skip_371648 | 10188198 | 10188320 | 10188204 | 10188204 | Frame_Shift_Del | T | - | p.L116fs |
| KIRC | TCGA-B0-4810-01 | exon_skip_371648 | 10188198 | 10188320 | 10188224 | 10188224 | Frame_Shift_Del | G | - | p.A122fs |
| KIRC | TCGA-CW-6093-01 | exon_skip_371648 | 10188198 | 10188320 | 10188224 | 10188224 | Frame_Shift_Del | G | - | p.A122fs |
| KIRC | TCGA-CW-6093-01 | exon_skip_371648 | 10188198 | 10188320 | 10188224 | 10188224 | Frame_Shift_Del | G | - | p.G123fs |
| KIRC | TCGA-B0-5115-01 | exon_skip_371648 | 10188198 | 10188320 | 10188227 | 10188227 | Frame_Shift_Del | A | - | p.G123fs |
| KIRC | TCGA-B0-5115-01 | exon_skip_371648 | 10188198 | 10188320 | 10188227 | 10188227 | Frame_Shift_Del | A | - | p.T124fs |
| KIRC | TCGA-B8-4153-01 | exon_skip_371648 | 10188198 | 10188320 | 10188248 | 10188255 | Frame_Shift_Del | AACCAAAC | - | p.130_133del |
| KIRC | TCGA-B8-4153-01 | exon_skip_371648 | 10188198 | 10188320 | 10188248 | 10188255 | Frame_Shift_Del | AACCAAAC | - | p.NQT131fs |
| KIRC | TCGA-BP-5183-01 | exon_skip_371648 | 10188198 | 10188320 | 10188248 | 10188248 | Frame_Shift_Del | A | - | p.N131fs |
| KIRC | TCGA-BP-5183-01 | exon_skip_371648 | 10188198 | 10188320 | 10188248 | 10188248 | Frame_Shift_Del | A | - | p.V130fs |
| KIRC | TCGA-B8-5162-01 | exon_skip_371648 | 10188198 | 10188320 | 10188252 | 10188252 | Frame_Shift_Del | A | - | p.Q132fs |
| KIRC | TCGA-EU-5905-01 | exon_skip_371648 | 10188198 | 10188320 | 10188260 | 10188260 | Frame_Shift_Del | T | - | p.E134fs |
| KIRC | TCGA-EU-5905-01 | exon_skip_371648 | 10188198 | 10188320 | 10188260 | 10188260 | Frame_Shift_Del | T | - | p.L135fs |
| KIRC | TCGA-B0-5709-01 | exon_skip_371648 | 10188198 | 10188320 | 10188268 | 10188268 | Frame_Shift_Del | G | - | p.V137fs |
| KIRC | TCGA-BP-5184-01 | exon_skip_371648 | 10188198 | 10188320 | 10188284 | 10188287 | Frame_Shift_Del | GACG | - | p.142_143del |
| KIRC | TCGA-BP-5184-01 | exon_skip_371648 | 10188198 | 10188320 | 10188284 | 10188287 | Frame_Shift_Del | GACG | - | p.DG143fs |
| KIRC | TCGA-B2-5635-01 | exon_skip_371648 | 10188198 | 10188320 | 10188287 | 10188287 | Frame_Shift_Del | G | - | p.D143fs |
| KIRC | TCGA-A3-3316-01 | exon_skip_371648 | 10188198 | 10188320 | 10188296 | 10188296 | Frame_Shift_Del | A | - | p.I147fs |
| KIRC | TCGA-A3-3316-01 | exon_skip_371648 | 10188198 | 10188320 | 10188296 | 10188296 | Frame_Shift_Del | A | - | p.P146fs |
| KIRC | TCGA-CJ-4908-01 | exon_skip_371648 | 10188198 | 10188320 | 10188297 | 10188297 | Frame_Shift_Del | T | - | p.I147fs |
| KIRC | TCGA-BP-4976-01 | exon_skip_371648 | 10188198 | 10188320 | 10188299 | 10188306 | Frame_Shift_Del | TTTGCCAA | - | p.147_150del |
| KIRC | TCGA-BP-4976-01 | exon_skip_371648 | 10188198 | 10188320 | 10188299 | 10188306 | Frame_Shift_Del | TTTGCCAA | - | p.FAN148fs |
| KIRC | TCGA-BP-5186-01 | exon_skip_371648 | 10188198 | 10188320 | 10188320 | 10188324 | Frame_Shift_Del | GGTAC | - | p.154_155del |
| KIRP | TCGA-AL-3473-01 | exon_skip_371648 | 10188198 | 10188320 | 10188203 | 10188204 | Frame_Shift_Ins | - | T | p.L116fs |
| KIRC | TCGA-CZ-5459-01 | exon_skip_371648 | 10188198 | 10188320 | 10188234 | 10188235 | Frame_Shift_Ins | - | T | p.D126fs |
| KIRC | TCGA-BP-4962-01 | exon_skip_371648 | 10188198 | 10188320 | 10188259 | 10188260 | Frame_Shift_Ins | - | T | p.E134fs |
| KIRC | TCGA-BP-4962-01 | exon_skip_371648 | 10188198 | 10188320 | 10188259 | 10188260 | Frame_Shift_Ins | - | T | p.I135fs |
| KIRC | TCGA-BP-4986-01 | exon_skip_371648 | 10188198 | 10188320 | 10188259 | 10188260 | Frame_Shift_Ins | - | T | p.E134fs |
| KIRC | TCGA-BP-4986-01 | exon_skip_371648 | 10188198 | 10188320 | 10188259 | 10188260 | Frame_Shift_Ins | - | T | p.I135fs |
| KIRC | TCGA-A3-3367-01 | exon_skip_371648 | 10188198 | 10188320 | 10188262 | 10188263 | Frame_Shift_Ins | - | TTTT | p.C136fs |
| KIRC | TCGA-A3-3367-01 | exon_skip_371648 | 10188198 | 10188320 | 10188262 | 10188263 | Frame_Shift_Ins | - | TTTT | p.L135fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_371648 | 10188198 | 10188320 | 10188268 | 10188269 | Frame_Shift_Ins | - | C | p.I138fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_371648 | 10188198 | 10188320 | 10188268 | 10188269 | Frame_Shift_Ins | - | C | p.V137fs |
| KIRC | TCGA-CJ-4634-01 | exon_skip_371648 | 10188198 | 10188320 | 10188296 | 10188297 | Frame_Shift_Ins | - | TTTT | p.I147fs |
| KIRC | TCGA-CZ-4859-01 | exon_skip_371648 | 10188198 | 10188320 | 10188305 | 10188306 | Frame_Shift_Ins | - | AT | p.N150fs |
| KIRC | TCGA-CZ-4859-01 | exon_skip_371648 | 10188198 | 10188320 | 10188305 | 10188306 | Frame_Shift_Ins | - | AT | p.Y150fs |
| KIRC | TCGA-BP-5185-01 | exon_skip_371648 | 10188198 | 10188320 | 10188207 | 10188207 | Nonsense_Mutation | G | A | p.W117* |
| KIRC | TCGA-BP-5185-01 | exon_skip_371648 | 10188198 | 10188320 | 10188207 | 10188207 | Nonsense_Mutation | G | A | p.W117X |
| KIRC | TCGA-A3-A8OV-01 | exon_skip_371648 | 10188198 | 10188320 | 10188287 | 10188287 | Nonsense_Mutation | G | T | p.G144X |
| KIRC | TCGA-B0-5812-01 | exon_skip_371648 | 10188198 | 10188320 | 10188290 | 10188290 | Nonsense_Mutation | C | T | p.Q145* |
| KIRC | TCGA-B0-5812-01 | exon_skip_371648 | 10188198 | 10188320 | 10188290 | 10188290 | Nonsense_Mutation | C | T | p.Q145X |
| KIRC | TCGA-CJ-6033-01 | exon_skip_371648 | 10188198 | 10188320 | 10188290 | 10188290 | Nonsense_Mutation | C | T | p.Q145X |
| KIRC | TCGA-A3-A6NI-01 | exon_skip_371648 | 10188198 | 10188320 | 10188196 | 10188196 | Splice_Site | A | C | . |
| KIRC | TCGA-B2-4101-01 | exon_skip_371648 | 10188198 | 10188320 | 10188196 | 10188196 | Splice_Site | A | T | . |
| KIRC | TCGA-B0-4700-01 | exon_skip_371648 | 10188198 | 10188320 | 10188197 | 10188197 | Splice_Site | G | T | . |
| KIRC | TCGA-B0-5096-01 | exon_skip_371648 | 10188198 | 10188320 | 10188197 | 10188197 | Splice_Site | G | T | . |
| KIRC | TCGA-CZ-4856-01 | exon_skip_371648 | 10188198 | 10188320 | 10188322 | 10188322 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| A498_KIDNEY | 10188198 | 10188320 | 10188283 | 10188286 | Frame_Shift_Del | TGAC | - | p.VD142fs |
| RCCER_KIDNEY | 10188198 | 10188320 | 10188286 | 10188286 | Frame_Shift_Del | C | - | p.D143fs |
| RCCFG2_KIDNEY | 10188198 | 10188320 | 10188297 | 10188297 | Frame_Shift_Del | T | - | p.I147fs |
| SW156_KIDNEY | 10188198 | 10188320 | 10188315 | 10188315 | Frame_Shift_Del | T | - | p.L153fs |
| RCCJF_KIDNEY | 10188198 | 10188320 | 10188200 | 10188200 | Missense_Mutation | C | T | p.H115Y |
| SNU1272_KIDNEY | 10188198 | 10188320 | 10188202 | 10188202 | Missense_Mutation | C | A | p.H115Q |
| NCC010_KIDNEY | 10188198 | 10188320 | 10188245 | 10188245 | Missense_Mutation | G | T | p.V130F |
| SLR26_KIDNEY | 10188198 | 10188320 | 10188246 | 10188246 | Missense_Mutation | T | A | p.V130D |
| TUHR14TKB_KIDNEY | 10188198 | 10188320 | 10188315 | 10188315 | Missense_Mutation | T | C | p.L153P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VHL |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VHL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VHL |
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RelatedDrugs for VHL |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for VHL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| VHL | C0019562 | Von Hippel-Lindau Syndrome | 17 | CTD_human;ORPHANET;UNIPROT |
| VHL | C0007134 | Renal Cell Carcinoma | 9 | CTD_human;HPO |
| VHL | C0031511 | Pheochromocytoma | 9 | CTD_human;HPO;UNIPROT |
| VHL | C1837915 | ERYTHROCYTOSIS, FAMILIAL, 2 | 5 | CTD_human;ORPHANET;UNIPROT |
| VHL | C0001430 | Adenoma | 1 | CTD_human |
| VHL | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| VHL | C0024121 | Lung Neoplasms | 1 | CTD_human |
| VHL | C0027708 | Nephroblastoma | 1 | CTD_human |
| VHL | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | UNIPROT |
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