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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: 41631

FusionGeneSummary for VPS53_STAT2

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS53_STAT2
Fusion gene ID: 41631
HgeneTgene
Gene symbol

VPS53

STAT2

Gene ID

55275

6773

Gene nameVPS53, GARP complex subunitsignal transducer and activator of transcription 2
SynonymsHCCS1|PCH2E|hVps53L|pp13624IMD44|ISGF-3|P113|STAT113
Cytomap

17p13.3

12q13.3

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 53 homologsignal transducer and activator of transcription 2interferon alpha induced transcriptional activatorsignal transducer and activator of transcription 2, 113kDa
Modification date2018052320180523
UniProtAcc

Q5VIR6

P52630

Ensembl transtripts involved in fusion geneENST00000437048, ENST00000574029, 
ENST00000576149, ENST00000446250, 
ENST00000291074, ENST00000571805, 
ENST00000401468, 
ENST00000556539, 
ENST00000314128, ENST00000557235, 
ENST00000418572, 
Fusion gene scores* DoF score10 X 5 X 10=5002 X 2 X 1=4
# samples 132
** MAII scorelog2(13/500*10)=-1.94341647163363
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: VPS53 [Title/Abstract] AND STAT2 [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

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
ChiTaRS3.1BE349542VPS53chr17

418558

+STAT2chr12

56743265

+
* 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-5UTRENST00000437048ENST00000556539VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000437048ENST00000314128VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000437048ENST00000557235VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000437048ENST00000418572VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000574029ENST00000556539VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000574029ENST00000314128VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000574029ENST00000557235VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000574029ENST00000418572VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000576149ENST00000556539VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000576149ENST00000314128VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000576149ENST00000557235VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000576149ENST00000418572VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000446250ENST00000556539VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000446250ENST00000314128VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000446250ENST00000557235VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000446250ENST00000418572VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000291074ENST00000556539VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000291074ENST00000314128VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000291074ENST00000557235VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000291074ENST00000418572VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000571805ENST00000556539VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000571805ENST00000314128VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000571805ENST00000557235VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000571805ENST00000418572VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000401468ENST00000556539VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000401468ENST00000314128VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000401468ENST00000557235VPS53chr17

418558

+STAT2chr12

56743265

+
intron-5UTRENST00000401468ENST00000418572VPS53chr17

418558

+STAT2chr12

56743265

+

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FusionProtFeatures for VPS53_STAT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS53

Q5VIR6

STAT2

P52630

Acts as component of the GARP complex that is involvedin retrograde transport from early and late endosomes to thetrans-Golgi network (TGN). The GARP complex is required for themaintenance of the cycling of mannose 6-phosphate receptorsbetween the TGN and endosomes, this cycling is necessary forproper lysosomal sorting of acid hydrolases such as CTSD(PubMed:15878329, PubMed:18367545). Acts as component of the EARPcomplex that is involved in endocytic recycling. The EARP complexassociates with Rab4-positive endosomes and promotes recycling ofinternalized transferrin receptor (TFRC) to the plasma membrane(PubMed:25799061). {ECO:0000269|PubMed:15878329,ECO:0000269|PubMed:18367545, ECO:0000269|PubMed:25799061}. Signal transducer and activator of transcription thatmediates signaling by type I IFNs (IFN-alpha and IFN-beta).Following type I IFN binding to cell surface receptors, Jakkinases (TYK2 and JAK1) are activated, leading to tyrosinephosphorylation of STAT1 and STAT2. The phosphorylated STATsdimerize, associate with IRF9/ISGF3G to form a complex termedISGF3 transcription factor, that enters the nucleus. ISGF3 bindsto the IFN stimulated response element (ISRE) to activate thetranscription of interferon stimulated genes, which drive the cellin an antiviral state (PubMed:9020188, PubMed:23391734). Acts as aregulator of mitochondrial fission by modulating thephosphorylation of DNM1L at 'Ser-616' and 'Ser-637' which activateand inactivate the GTPase activity of DNM1L respectively(PubMed:26122121). {ECO:0000269|PubMed:23391734,ECO:0000269|PubMed:26122121, ECO:0000269|PubMed:9020188}.

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 VPS53_STAT2


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 VPS53_STAT2


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 VPS53_STAT2


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 VPS53_STAT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS53C4014488PONTOCEREBELLAR HYPOPLASIA, TYPE 2E1UNIPROT