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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 41454

FusionGeneSummary for VHL_VHL

check button Fusion gene summary
Fusion gene informationFusion gene name: VHL_VHL
Fusion gene ID: 41454
HgeneTgene
Gene symbol

VHL

VHL

Gene ID

7428

7428

Gene namevon Hippel-Lindau tumor suppressorvon Hippel-Lindau tumor suppressor
SynonymsHRCA1|RCA1|VHL1|pVHLHRCA1|RCA1|VHL1|pVHL
Cytomap

3p25.3

3p25.3

Type of geneprotein-codingprotein-coding
Descriptionvon Hippel-Lindau disease tumor suppressorelongin binding proteinprotein G7von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligasevon Hippel-Lindau disease tumor suppressorelongin binding proteinprotein G7von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Modification date2018052320180523
UniProtAcc

P40337

P40337

Ensembl transtripts involved in fusion geneENST00000256474, ENST00000345392, 
ENST00000477538, 
ENST00000256474, 
ENST00000345392, ENST00000477538, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 2 X 3=18
# samples 43
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: VHL [Title/Abstract] AND VHL [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneVHL

GO:0016567

protein ubiquitination

24899725

HgeneVHL

GO:0061428

negative regulation of transcription from RNA polymerase II promoter in response to hypoxia

11641274

TgeneVHL

GO:0016567

protein ubiquitination

24899725

TgeneVHL

GO:0061428

negative regulation of transcription from RNA polymerase II promoter in response to hypoxia

11641274


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CA391692VHLchr3

10194592

+VHLchr3

10192792

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3UTRENST00000256474ENST00000256474VHLchr3

10194592

+VHLchr3

10192792

+
intron-3UTRENST00000256474ENST00000345392VHLchr3

10194592

+VHLchr3

10192792

+
intron-intronENST00000256474ENST00000477538VHLchr3

10194592

+VHLchr3

10192792

+
intron-3UTRENST00000345392ENST00000256474VHLchr3

10194592

+VHLchr3

10192792

+
intron-3UTRENST00000345392ENST00000345392VHLchr3

10194592

+VHLchr3

10192792

+
intron-intronENST00000345392ENST00000477538VHLchr3

10194592

+VHLchr3

10192792

+
intron-3UTRENST00000477538ENST00000256474VHLchr3

10194592

+VHLchr3

10192792

+
intron-3UTRENST00000477538ENST00000345392VHLchr3

10194592

+VHLchr3

10192792

+
intron-intronENST00000477538ENST00000477538VHLchr3

10194592

+VHLchr3

10192792

+

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FusionProtFeatures for VHL_VHL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VHL

P40337

VHL

P40337

Involved in the ubiquitination and subsequentproteasomal degradation via the von Hippel-Lindau ubiquitinationcomplex. Seems to act as a target recruitment subunit in the E3ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved intranscriptional repression through interaction with HIF1A, HIF1ANand histone deacetylases. Ubiquitinates, in an oxygen-responsivemanner, ADRB2. {ECO:0000269|PubMed:10944113,ECO:0000269|PubMed:17981124, ECO:0000269|PubMed:19584355}. Involved in the ubiquitination and subsequentproteasomal degradation via the von Hippel-Lindau ubiquitinationcomplex. Seems to act as a target recruitment subunit in the E3ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved intranscriptional repression through interaction with HIF1A, HIF1ANand histone deacetylases. Ubiquitinates, in an oxygen-responsivemanner, ADRB2. {ECO:0000269|PubMed:10944113,ECO:0000269|PubMed:17981124, ECO:0000269|PubMed:19584355}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for VHL_VHL


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for VHL_VHL


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for VHL_VHL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for VHL_VHL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVHLC0019562Von Hippel-Lindau Syndrome17CTD_human;ORPHANET;UNIPROT
HgeneVHLC0007134Renal Cell Carcinoma9CTD_human;HPO
HgeneVHLC0031511Pheochromocytoma9CTD_human;HPO;UNIPROT
HgeneVHLC1837915ERYTHROCYTOSIS, FAMILIAL, 25CTD_human;ORPHANET;UNIPROT
HgeneVHLC0001430Adenoma1CTD_human
HgeneVHLC0022665Kidney Neoplasm1CTD_human
HgeneVHLC0024121Lung Neoplasms1CTD_human
HgeneVHLC0027708Nephroblastoma1CTD_human
HgeneVHLC0279702Conventional (Clear Cell) Renal Cell Carcinoma1UNIPROT
TgeneVHLC0019562Von Hippel-Lindau Syndrome17CTD_human;ORPHANET;UNIPROT
TgeneVHLC0007134Renal Cell Carcinoma9CTD_human;HPO
TgeneVHLC0031511Pheochromocytoma9CTD_human;HPO;UNIPROT
TgeneVHLC1837915ERYTHROCYTOSIS, FAMILIAL, 25CTD_human;ORPHANET;UNIPROT
TgeneVHLC0001430Adenoma1CTD_human
TgeneVHLC0022665Kidney Neoplasm1CTD_human
TgeneVHLC0024121Lung Neoplasms1CTD_human
TgeneVHLC0027708Nephroblastoma1CTD_human
TgeneVHLC0279702Conventional (Clear Cell) Renal Cell Carcinoma1UNIPROT