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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:CIRH1A-WWP2 (FusionGDB2 ID:HG84916TG11060)

Fusion Gene Summary for CIRH1A-WWP2

check button Fusion gene summary
Fusion gene informationFusion gene name: CIRH1A-WWP2
Fusion gene ID: hg84916tg11060
HgeneTgene
Gene symbol

CIRH1A

WWP2

Gene ID

84916

11060

Gene nameUTP4 small subunit processome componentWW domain containing E3 ubiquitin protein ligase 2
SynonymsCIRH1A|CIRHIN|NAIC|TEX292AIP2|WWp2-like
Cytomap('CIRH1A')('WWP2')

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
DescriptionU3 small nucleolar RNA-associated protein 4 homologUTP4 small subunit (SSU) processome componentUTP4, small subunit (SSU) processome component, homologcirrhosis, autosomal recessive 1A (cirhin)testis expressed gene 292NEDD4-like E3 ubiquitin-protein ligase WWP2HECT-type E3 ubiquitin transferase WWP2atrophin-1 interacting protein 2
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000314423, ENST00000352319, 
ENST00000563094, ENST00000569615, 
ENST00000314423, ENST00000352319, 
ENST00000563094, ENST00000569615, 
Fusion gene scores* DoF score4 X 5 X 3=6013 X 14 X 9=1638
# samples 516
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1638*10)=-3.35579154675365
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CIRH1A [Title/Abstract] AND WWP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCIRH1A(69184807)-WWP2(69963350), # samples:1
Anticipated loss of major functional domain due to fusion event.WWP2-CIRH1A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
WWP2-CIRH1A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CIRH1A-WWP2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
WWP2-CIRH1A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneCIRH1A

GO:0006355

regulation of transcription, DNA-templated

19732766

TgeneWWP2

GO:0016567

protein ubiquitination

18776082|26280536

TgeneWWP2

GO:0032410

negative regulation of transporter activity

18776082

TgeneWWP2

GO:0034765

regulation of ion transmembrane transport

17289006

TgeneWWP2

GO:0042391

regulation of membrane potential

17289006

TgeneWWP2

GO:0051865

protein autoubiquitination

24105792

TgeneWWP2

GO:1901016

regulation of potassium ion transmembrane transporter activity

17289006



check button Fusion gene information
* 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
ChimerDB4STADTCGA-VQ-A925CIRH1Achr16

69184807

+WWP2chr16

69963350

+


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Fusion Gene ORF analysis for CIRH1A-WWP2

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
5CDS-3UTRENST00000314423ENST00000542271CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-3UTRENST00000314423ENST00000544162CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-3UTRENST00000352319ENST00000542271CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-3UTRENST00000352319ENST00000544162CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-3UTRENST00000563094ENST00000542271CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-3UTRENST00000563094ENST00000544162CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-5UTRENST00000314423ENST00000568684CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-5UTRENST00000352319ENST00000568684CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-5UTRENST00000563094ENST00000568684CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-intronENST00000314423ENST00000356003CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-intronENST00000314423ENST00000569174CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-intronENST00000352319ENST00000356003CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-intronENST00000352319ENST00000569174CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-intronENST00000563094ENST00000356003CIRH1Achr16

69184807

+WWP2chr16

69963350

+
5CDS-intronENST00000563094ENST00000569174CIRH1Achr16

69184807

+WWP2chr16

69963350

+
Frame-shiftENST00000314423ENST00000359154CIRH1Achr16

69184807

+WWP2chr16

69963350

+
Frame-shiftENST00000314423ENST00000448661CIRH1Achr16

69184807

+WWP2chr16

69963350

+
Frame-shiftENST00000352319ENST00000359154CIRH1Achr16

69184807

+WWP2chr16

69963350

+
Frame-shiftENST00000352319ENST00000448661CIRH1Achr16

69184807

+WWP2chr16

69963350

+
Frame-shiftENST00000563094ENST00000359154CIRH1Achr16

69184807

+WWP2chr16

69963350

+
Frame-shiftENST00000563094ENST00000448661CIRH1Achr16

69184807

+WWP2chr16

69963350

+
intron-3CDSENST00000569615ENST00000359154CIRH1Achr16

69184807

+WWP2chr16

69963350

+
intron-3CDSENST00000569615ENST00000448661CIRH1Achr16

69184807

+WWP2chr16

69963350

+
intron-3UTRENST00000569615ENST00000542271CIRH1Achr16

69184807

+WWP2chr16

69963350

+
intron-3UTRENST00000569615ENST00000544162CIRH1Achr16

69184807

+WWP2chr16

69963350

+
intron-5UTRENST00000569615ENST00000568684CIRH1Achr16

69184807

+WWP2chr16

69963350

+
intron-intronENST00000569615ENST00000356003CIRH1Achr16

69184807

+WWP2chr16

69963350

+
intron-intronENST00000569615ENST00000569174CIRH1Achr16

69184807

+WWP2chr16

69963350

+

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 CIRH1A-WWP2


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)
CIRH1Achr1669184807+WWP2chr1669963350+5.33E-070.9999995
CIRH1Achr1669184807+WWP2chr1669963350+5.33E-070.9999995


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 CIRH1A-WWP2


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/:69184807/:69963350)
- 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
..
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: 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 CIRH1A-WWP2


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 CIRH1A-WWP2


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 CIRH1A-WWP2


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 CIRH1A-WWP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0409959Osteoarthritis, Knee1CTD_human