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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: 41345

FusionGeneSummary for VAPB_DMD

check button Fusion gene summary
Fusion gene informationFusion gene name: VAPB_DMD
Fusion gene ID: 41345
HgeneTgene
Gene symbol

VAPB

DMD

Gene ID

9217

1756

Gene nameVAMP associated protein B and Cdystrophin
SynonymsALS8|VAMP-B|VAP-BBMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85
Cytomap

20q13.32

Xp21.2-p21.1

Type of geneprotein-codingprotein-coding
Descriptionvesicle-associated membrane protein-associated protein B/CVAMP (vesicle-associated membrane protein)-associated protein B and CVAMP-associated 33 kDa proteindystrophin
Modification date2018052220180522
UniProtAcc

O95292

P11532

Ensembl transtripts involved in fusion geneENST00000475243, ENST00000395802, 
ENST00000265619, 
ENST00000378707, 
ENST00000359836, ENST00000541735, 
ENST00000343523, ENST00000378677, 
ENST00000357033, ENST00000474231, 
ENST00000378723, ENST00000378702, 
ENST00000361471, ENST00000378680, 
ENST00000288447, ENST00000445312, 
Fusion gene scores* DoF score7 X 4 X 4=11216 X 18 X 7=2016
# samples 718
** MAII scorelog2(7/112*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/2016*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VAPB [Title/Abstract] AND DMD [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
HgeneVAPB

GO:0019048

modulation by virus of host morphology or physiology

16227268

TgeneDMD

GO:0043043

peptide biosynthetic process

16000376


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
ChiTaRS3.1AW993740VAPBchr20

56979533

+DMDchrX

31213863

-
* 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-intronENST00000475243ENST00000378707VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000359836VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000541735VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000343523VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000378677VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000357033VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000474231VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000378723VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000378702VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000361471VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000378680VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000288447VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000475243ENST00000445312VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000378707VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000359836VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000541735VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000343523VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000378677VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000357033VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000474231VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000378723VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000378702VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000361471VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000378680VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000288447VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000395802ENST00000445312VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000378707VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000359836VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000541735VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000343523VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000378677VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000357033VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000474231VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000378723VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000378702VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000361471VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000378680VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000288447VAPBchr20

56979533

+DMDchrX

31213863

-
intron-intronENST00000265619ENST00000445312VAPBchr20

56979533

+DMDchrX

31213863

-

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FusionProtFeatures for VAPB_DMD


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

O95292

DMD

P11532

Participates in the endoplasmic reticulum unfoldedprotein response (UPR) by inducing ERN1/IRE1 activity. Involved incellular calcium homeostasis regulation.{ECO:0000269|PubMed:16891305, ECO:0000269|PubMed:20940299,ECO:0000269|PubMed:22131369}.

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 VAPB_DMD


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 VAPB_DMD


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 VAPB_DMD


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 VAPB_DMD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVAPBC1837728AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)4CTD_human;UNIPROT
TgeneDMDC0013264Muscular Dystrophy, Duchenne16CTD_human;ORPHANET;UNIPROT
TgeneDMDC0026850Muscular Dystrophy4CTD_human;HPO
TgeneDMDC3668940Dmd-Associated Dilated Cardiomyopathy4CTD_human;UNIPROT
TgeneDMDC0878544Cardiomyopathies3CTD_human;HPO
TgeneDMDC0006663Calcinosis1CTD_human
TgeneDMDC0007193Cardiomyopathy, Dilated1CTD_human;HPO
TgeneDMDC0018800Cardiomegaly1CTD_human
TgeneDMDC0023269leiomyosarcoma1CTD_human
TgeneDMDC0026851Muscular Dystrophy, Animal1CTD_human
TgeneDMDC0027540Necrosis1CTD_human
TgeneDMDC0027626Neoplasm Invasiveness1CTD_human
TgeneDMDC0027627Neoplasm Metastasis1CTD_human
TgeneDMDC0032460Polycystic Ovary Syndrome1CTD_human
TgeneDMDC0038220Status Epilepticus1CTD_human
TgeneDMDC0151786Muscle Weakness1CTD_human;HPO
TgeneDMDC0206656Rhabdomyosarcoma, Embryonal1CTD_human
TgeneDMDC0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneDMDC0242973Ventricular Dysfunction1CTD_human
TgeneDMDC0917713Becker Muscular Dystrophy1ORPHANET;UNIPROT