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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: 41534

FusionGeneSummary for VPS13B_SGCZ

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS13B_SGCZ
Fusion gene ID: 41534
HgeneTgene
Gene symbol

VPS13B

SGCZ

Gene ID

157680

137868

Gene namevacuolar protein sorting 13 homolog Bsarcoglycan zeta
SynonymsCHS1|COH1ZSG1
Cytomap

8q22.2

8p22

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 13Bzeta-sarcoglycanzeta-SG
Modification date2018051920180523
UniProtAcc

Q7Z7G8

Q96LD1

Ensembl transtripts involved in fusion geneENST00000395996, ENST00000358544, 
ENST00000357162, ENST00000355155, 
ENST00000441350, ENST00000521932, 
ENST00000382080, ENST00000421524, 
Fusion gene scores* DoF score27 X 20 X 12=64805 X 4 X 5=100
# samples 305
** MAII scorelog2(30/6480*10)=-4.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS13B [Title/Abstract] AND SGCZ [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
TCGARVLUADTCGA-97-8171-01AVPS13Bchr8

100205285

+SGCZchr8

14181713

-
* 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
Frame-shitENST00000395996ENST00000382080VPS13Bchr8

100205285

+SGCZchr8

14181713

-
5CDS-intronENST00000395996ENST00000421524VPS13Bchr8

100205285

+SGCZchr8

14181713

-
Frame-shitENST00000358544ENST00000382080VPS13Bchr8

100205285

+SGCZchr8

14181713

-
5CDS-intronENST00000358544ENST00000421524VPS13Bchr8

100205285

+SGCZchr8

14181713

-
Frame-shitENST00000357162ENST00000382080VPS13Bchr8

100205285

+SGCZchr8

14181713

-
5CDS-intronENST00000357162ENST00000421524VPS13Bchr8

100205285

+SGCZchr8

14181713

-
Frame-shitENST00000355155ENST00000382080VPS13Bchr8

100205285

+SGCZchr8

14181713

-
5CDS-intronENST00000355155ENST00000421524VPS13Bchr8

100205285

+SGCZchr8

14181713

-
intron-3CDSENST00000441350ENST00000382080VPS13Bchr8

100205285

+SGCZchr8

14181713

-
intron-intronENST00000441350ENST00000421524VPS13Bchr8

100205285

+SGCZchr8

14181713

-
3UTR-3CDSENST00000521932ENST00000382080VPS13Bchr8

100205285

+SGCZchr8

14181713

-
3UTR-intronENST00000521932ENST00000421524VPS13Bchr8

100205285

+SGCZchr8

14181713

-

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FusionProtFeatures for VPS13B_SGCZ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS13B

Q7Z7G8

SGCZ

Q96LD1

Component of the sarcoglycan complex, a subcomplex ofthe dystrophin-glycoprotein complex which forms a link between theF-actin cytoskeleton and the extracellular matrix. May play a rolein the maintenance of striated muscle membrane stability (Bysimilarity). {ECO:0000250}.

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 VPS13B_SGCZ


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 VPS13B_SGCZ


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
VPS13BCSNK1E, SPACA1, FAM177A1, DNAJC7, CSNK1D, SNX20, SNX21, LGALS7, DOCK5, LYPD4, FUZSGCZSGCB, HARS, REEP5, GK, ACACA, GNPTAB, RANGRF, ATP5F1, C4orf32, SP3, RTN4, DAGLB, ATP5B


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 VPS13B_SGCZ


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 VPS13B_SGCZ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS13BC0265223Cohen syndrome6CTD_human;ORPHANET;UNIPROT
TgeneSGCZC0236733Amphetamine-Related Disorders1CTD_human