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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DAXX-VAPB (FusionGDB2 ID:21386)

Fusion Gene Summary for DAXX-VAPB

check button Fusion gene summary
Fusion gene informationFusion gene name: DAXX-VAPB
Fusion gene ID: 21386
HgeneTgene
Gene symbol

DAXX

VAPB

Gene ID

1616

9217

Gene namedeath domain associated proteinVAMP associated protein B and C
SynonymsBING2|DAP6|EAP1|SMIM40ALS8|VAMP-B|VAP-B
Cytomap

6p21.32

20q13.32

Type of geneprotein-codingprotein-coding
Descriptiondeath domain-associated protein 6CENP-C binding proteinETS1-associated protein 1Fas-binding proteindeath-associated protein 6fas death domain-associated proteinvesicle-associated membrane protein-associated protein B/CVAMP (vesicle-associated membrane protein)-associated protein B and CVAMP-associated 33 kDa protein
Modification date2020031320200313
UniProtAcc

Q9UER7

.
Ensembl transtripts involved in fusion geneENST00000266000, ENST00000374542, 
ENST00000383062, ENST00000383194, 
ENST00000399060, ENST00000399344, 
ENST00000414083, ENST00000414388, 
ENST00000433482, ENST00000436311, 
ENST00000445009, ENST00000455860, 
ENST00000461796, ENST00000469277, 
ENST00000472399, ENST00000477162, 
ENST00000494562, 		ENST00000265619, 
ENST00000395802, ENST00000475243, 
Fusion gene scores* DoF score2 X 2 X 1=411 X 11 X 6=726
# samples 212
** MAII scorelog2(2/4*10)=2.32192809488736log2(12/726*10)=-2.59693514238723
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAXX [Title/Abstract] AND VAPB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAXX(33286959)-VAPB(57020463), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneDAXX

GO:0006334

nucleosome assembly

20504901|20651253

HgeneDAXX

GO:0006338

chromatin remodeling

20651253

HgeneDAXX

GO:0006355

regulation of transcription, DNA-templated

15878163

HgeneDAXX

GO:0030521

androgen receptor signaling pathway

15572661

HgeneDAXX

GO:0031396

regulation of protein ubiquitination

18566590

HgeneDAXX

GO:0034605

cellular response to heat

15016915

HgeneDAXX

GO:0034620

cellular response to unfolded protein

15016915

HgeneDAXX

GO:0045892

negative regulation of transcription, DNA-templated

12140263|15572661

HgeneDAXX

GO:0071276

cellular response to cadmium ion

15016915

HgeneDAXX

GO:0071280

cellular response to copper ion

15016915

HgeneDAXX

GO:0072738

cellular response to diamide

15016915

HgeneDAXX

GO:1903936

cellular response to sodium arsenite

15016915

TgeneVAPB

GO:0019048

modulation by virus of host morphology or physiology

16227268

TgeneVAPB

GO:0036498

IRE1-mediated unfolded protein response

20940299


check buttonFusion gene breakpoints across DAXX (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across VAPB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAI093537DAXXchr6

33286959

+VAPBchr20

57020463

-


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Fusion Gene ORF analysis for DAXX-VAPB

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-3UTRENST00000266000ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000266000ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000266000ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000374542ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000374542ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000374542ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000383062ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000383062ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000383062ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000383194ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000383194ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000383194ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000399060ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000399060ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000399060ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000399344ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000399344ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000399344ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000414083ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000414083ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000414083ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000414388ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000414388ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000414388ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000433482ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000433482ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000433482ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000436311ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000436311ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000436311ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000445009ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000445009ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000445009ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000455860ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000455860ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000455860ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000461796ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000461796ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000461796ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000469277ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000469277ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000469277ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000472399ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000472399ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000472399ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000477162ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000477162ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000477162ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000494562ENST00000265619DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000494562ENST00000395802DAXXchr6

33286959

+VAPBchr20

57020463

-
intron-3UTRENST00000494562ENST00000475243DAXXchr6

33286959

+VAPBchr20

57020463

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DAXX-VAPB


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for DAXX-VAPB


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:33286959/:57020463)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9UER7

.
FUNCTION: Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. Acts as an adapter protein in a MDM2-DAXX-USP7 complex by regulating the RING-finger E3 ligase MDM2 ubiquitination activity. Under non-stress condition, in association with the deubiquitinating USP7, prevents MDM2 self-ubiquitination and enhances the intrinsic E3 ligase activity of MDM2 towards TP53, thereby promoting TP53 ubiquitination and subsequent proteasomal degradation. Upon DNA damage, its association with MDM2 and USP7 is disrupted, resulting in increased MDM2 autoubiquitination and consequently, MDM2 degradation, which leads to TP53 stabilization. Acts as histone chaperone that facilitates deposition of histone H3.3. Acts as targeting component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Does not affect the ATPase activity of ATRX but alleviates its transcription repression activity. Upon neuronal activation associates with regulatory elements of selected immediate early genes where it promotes deposition of histone H3.3 which may be linked to transcriptional induction of these genes. Required for the recruitment of histone H3.3:H4 dimers to PML-nuclear bodies (PML-NBs); the process is independent of ATRX and facilitated by ASF1A; PML-NBs are suggested to function as regulatory sites for the incorporation of newly synthesized histone H3.3 into chromatin. In case of overexpression of centromeric histone variant CENPA (as found in various tumors) is involved in its mislocalization to chromosomes; the ectopic localization involves a heterotypic tetramer containing CENPA, and histones H3.3 and H4 and decreases binding of CTCF to chromatin. Proposed to mediate activation of the JNK pathway and apoptosis via MAP3K5 in response to signaling from TNFRSF6 and TGFBR2. Interaction with HSPB1/HSP27 may prevent interaction with TNFRSF6 and MAP3K5 and block DAXX-mediated apoptosis. In contrast, in lymphoid cells JNC activation and TNFRSF6-mediated apoptosis may not involve DAXX. Shows restriction activity towards human cytomegalovirus (HCMV). Plays a role as a positive regulator of the heat shock transcription factor HSF1 activity during the stress protein response (PubMed:15016915). {ECO:0000269|PubMed:12140263, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:15016915, ECO:0000269|PubMed:15364927, ECO:0000269|PubMed:16845383, ECO:0000269|PubMed:17081986, ECO:0000269|PubMed:17942542, ECO:0000269|PubMed:20504901, ECO:0000269|PubMed:20651253, ECO:0000269|PubMed:23222847, ECO:0000269|PubMed:24200965, ECO:0000269|PubMed:24530302}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for DAXX-VAPB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DAXX-VAPB


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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Related Drugs for DAXX-VAPB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DAXX-VAPB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource