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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:STAU2-MAVS (FusionGDB2 ID:87332)

Fusion Gene Summary for STAU2-MAVS

check button Fusion gene summary
Fusion gene informationFusion gene name: STAU2-MAVS
Fusion gene ID: 87332
HgeneTgene
Gene symbol

STAU2

MAVS

Gene ID

27067

57506

Gene namestaufen double-stranded RNA binding protein 2mitochondrial antiviral signaling protein
Synonyms39K2|39K3CARDIF|IPS-1|IPS1|VISA
Cytomap

8q21.11

20p13

Type of geneprotein-codingprotein-coding
Descriptiondouble-stranded RNA-binding protein Staufen homolog 2staufen homolog 2staufen, RNA binding protein, homolog 2mitochondrial antiviral-signaling proteinCARD adapter inducing interferon betaCARD adaptor inducing IFN-betaIFN-B promoter stimulator 1interferon beta promoter stimulator protein 1putative NF-kappa-B-activating protein 031Nvirus-induced signaling ad
Modification date2020031320200313
UniProtAcc.

Q7Z434

Ensembl transtripts involved in fusion geneENST00000355780, ENST00000517542, 
ENST00000521210, ENST00000521419, 
ENST00000521451, ENST00000522962, 
ENST00000523558, ENST00000524104, 
ENST00000524300, ENST00000519961, 
ENST00000521727, ENST00000522509, 
ENST00000522695, 		ENST00000416600, 
ENST00000428216, ENST00000358134, 
Fusion gene scores* DoF score26 X 20 X 13=676010 X 13 X 5=650
# samples 3411
** MAII scorelog2(34/6760*10)=-4.31341659503185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/650*10)=-2.56293619439116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STAU2 [Title/Abstract] AND MAVS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSTAU2(74659017)-MAVS(3835204), # 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
TgeneMAVS

GO:0001934

positive regulation of protein phosphorylation

16127453

TgeneMAVS

GO:0002230

positive regulation of defense response to virus by host

16127453

TgeneMAVS

GO:0032727

positive regulation of interferon-alpha production

16127453

TgeneMAVS

GO:0032728

positive regulation of interferon-beta production

16127453

TgeneMAVS

GO:0032757

positive regulation of interleukin-8 production

16127453

TgeneMAVS

GO:0032760

positive regulation of tumor necrosis factor production

16127453

TgeneMAVS

GO:0042307

positive regulation of protein import into nucleus

18818105

TgeneMAVS

GO:0045071

negative regulation of viral genome replication

20451243

TgeneMAVS

GO:0045944

positive regulation of transcription by RNA polymerase II

16127453|18818105

TgeneMAVS

GO:0051091

positive regulation of DNA-binding transcription factor activity

16127453|18818105

TgeneMAVS

GO:0051607

defense response to virus

20451243

TgeneMAVS

GO:0060340

positive regulation of type I interferon-mediated signaling pathway

16127453|20451243

TgeneMAVS

GO:0071651

positive regulation of chemokine (C-C motif) ligand 5 production

16127453

TgeneMAVS

GO:0071660

positive regulation of IP-10 production

16127453


check buttonFusion gene breakpoints across STAU2 (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 MAVS (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
ChimerDB4OVTCGA-36-1568STAU2chr8

74659017

-MAVSchr20

3835204

+


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Fusion Gene ORF analysis for STAU2-MAVS

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
5UTR-5UTRENST00000355780ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000355780ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000517542ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000517542ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000521210ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000521210ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000521419ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000521419ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000521451ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000521451ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000522962ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000522962ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000523558ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000523558ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000524104ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000524104ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000524300ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-5UTRENST00000524300ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000355780ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000517542ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000521210ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000521419ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000521451ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000522962ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000523558ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000524104ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
5UTR-intronENST00000524300ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000519961ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000519961ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000521727ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000521727ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000522509ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000522509ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000522695ENST00000416600STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-5UTRENST00000522695ENST00000428216STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-intronENST00000519961ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-intronENST00000521727ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-intronENST00000522509ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+
intron-intronENST00000522695ENST00000358134STAU2chr8

74659017

-MAVSchr20

3835204

+

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 STAU2-MAVS


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)
STAU2chr874659017-MAVSchr203835204+4.54E-101
STAU2chr874659017-MAVSchr203835204+4.54E-101

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.
genomic feature of top 1%

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Fusion Protein Features for STAU2-MAVS


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/:74659017/:3835204)
- 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
.MAVS

Q7Z434

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}.FUNCTION: Required for innate immune defense against viruses (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20451243, PubMed:23087404, PubMed:20127681, PubMed:21170385). Acts downstream of DHX33, DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFNB and RANTES (CCL5) (PubMed:16125763, PubMed:16127453, PubMed:16153868, PubMed:16177806, PubMed:19631370, PubMed:20451243, PubMed:23087404, PubMed:25636800, PubMed:20127681, PubMed:21170385, PubMed:20628368). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state (PubMed:20451243). Upon viral infection, peroxisomal MAVS induces the rapid interferon-independent expression of defense factors that provide short-term protection, whereas mitochondrial MAVS activates an interferon-dependent signaling pathway with delayed kinetics, which amplifies and stabilizes the antiviral response (PubMed:20451243). May activate the same pathways following detection of extracellular dsRNA by TLR3 (PubMed:16153868). May protect cells from apoptosis (PubMed:16125763). {ECO:0000269|PubMed:16125763, ECO:0000269|PubMed:16127453, ECO:0000269|PubMed:16153868, ECO:0000269|PubMed:16177806, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:20127681, ECO:0000269|PubMed:20451243, ECO:0000269|PubMed:20628368, ECO:0000269|PubMed:21170385, ECO:0000269|PubMed:23087404, ECO:0000269|PubMed:25636800}.

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 STAU2-MAVS


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 STAU2-MAVS


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 STAU2-MAVS


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 STAU2-MAVS


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