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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:DDX58-RBMS1 (FusionGDB2 ID:HG23586TG5937)

Fusion Gene Summary for DDX58-RBMS1

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX58-RBMS1
Fusion gene ID: hg23586tg5937
HgeneTgene
Gene symbol

DDX58

RBMS1

Gene ID

23586

5937

Gene nameDExD/H-box helicase 58RNA binding motif single stranded interacting protein 1
SynonymsRIG-I|RIG1|RIGI|RLR-1|SGMRT2C2orf12|HCC-4|MSSP|MSSP-1|MSSP-2|MSSP-3|SCR2|YC1
Cytomap('DDX58')('RBMS1')

9p21.1

2q24.2

Type of geneprotein-codingprotein-coding
Descriptionprobable ATP-dependent RNA helicase DDX58DEAD (Asp-Glu-Ala-Asp) box polypeptide 58DEAD box protein 58DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptideRNA helicase RIG-Iretinoic acid-inducible gene 1 proteinretinoic acid-inducible gene I proteinRNA-binding motif, single-stranded-interacting protein 1c-myc gene single strand binding protein 2cervical cancer oncogene 4single-stranded DNA-binding protein MSSP-1suppressor of CDC2 with RNA-binding motif 2suppressor of cdc 2 (cdc13) with RNA bind
Modification date2020032920200320
UniProtAcc

O95786

.
Ensembl transtripts involved in fusion geneENST00000379868, ENST00000379882, 
ENST00000379883, ENST00000542096, 
ENST00000545044, 
Fusion gene scores* DoF score7 X 7 X 6=29410 X 15 X 6=900
# samples 916
** MAII scorelog2(9/294*10)=-1.70781924850669
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/900*10)=-2.49185309632967
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX58 [Title/Abstract] AND RBMS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDX58(32466288)-RBMS1(161135169), # 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
HgeneDDX58

GO:0009597

detection of virus

17079289

HgeneDDX58

GO:0010628

positive regulation of gene expression

24409285

HgeneDDX58

GO:0030334

regulation of cell migration

19122199

HgeneDDX58

GO:0032725

positive regulation of granulocyte macrophage colony-stimulating factor production

24409285

HgeneDDX58

GO:0032727

positive regulation of interferon-alpha production

19576794

HgeneDDX58

GO:0032728

positive regulation of interferon-beta production

17079289

HgeneDDX58

GO:0032755

positive regulation of interleukin-6 production

24409285

HgeneDDX58

GO:0032757

positive regulation of interleukin-8 production

24409285

HgeneDDX58

GO:0039529

RIG-I signaling pathway

28469175

HgeneDDX58

GO:0045944

positive regulation of transcription by RNA polymerase II

17079289

HgeneDDX58

GO:0051091

positive regulation of DNA-binding transcription factor activity

17079289

HgeneDDX58

GO:0051607

defense response to virus

21478870



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
ChimerDB4BLCATCGA-UY-A9PB-01ADDX58chr9

32466288

-RBMS1chr2

161135169

-


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Fusion Gene ORF analysis for DDX58-RBMS1

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-5UTRENST00000379868ENST00000348849DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379868ENST00000392753DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379868ENST00000409075DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379868ENST00000409289DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379868ENST00000409972DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379868ENST00000474820DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379882ENST00000348849DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379882ENST00000392753DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379882ENST00000409075DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379882ENST00000409289DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379882ENST00000409972DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379882ENST00000474820DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379883ENST00000348849DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379883ENST00000392753DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379883ENST00000409075DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379883ENST00000409289DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379883ENST00000409972DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000379883ENST00000474820DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000542096ENST00000348849DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000542096ENST00000392753DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000542096ENST00000409075DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000542096ENST00000409289DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000542096ENST00000409972DDX58chr9

32466288

-RBMS1chr2

161135169

-
5CDS-5UTRENST00000542096ENST00000474820DDX58chr9

32466288

-RBMS1chr2

161135169

-
intron-5UTRENST00000545044ENST00000348849DDX58chr9

32466288

-RBMS1chr2

161135169

-
intron-5UTRENST00000545044ENST00000392753DDX58chr9

32466288

-RBMS1chr2

161135169

-
intron-5UTRENST00000545044ENST00000409075DDX58chr9

32466288

-RBMS1chr2

161135169

-
intron-5UTRENST00000545044ENST00000409289DDX58chr9

32466288

-RBMS1chr2

161135169

-
intron-5UTRENST00000545044ENST00000409972DDX58chr9

32466288

-RBMS1chr2

161135169

-
intron-5UTRENST00000545044ENST00000474820DDX58chr9

32466288

-RBMS1chr2

161135169

-

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 DDX58-RBMS1


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)


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Fusion Protein Features for DDX58-RBMS1


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/:32466288/:161135169)
- 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
DDX58

O95786

.
FUNCTION: Innate immune receptor that senses cytoplasmic viral nucleic acids and activates a downstream signaling cascade leading to the production of type I interferons and proinflammatory cytokines. Forms a ribonucleoprotein complex with viral RNAs on which it homooligomerizes to form filaments. The homooligomerization allows the recruitment of RNF135 an E3 ubiquitin-protein ligase that activates and amplifies the RIG-I-mediated antiviral signaling in an RNA length-dependent manner through ubiquitination-dependent and -independent mechanisms (PubMed:28469175, PubMed:31006531). Upon activation, associates with mitochondria antiviral signaling protein (MAVS/IPS1) that activates the IKK-related kinases TBK1 and IKBKE which in turn phosphorylate the interferon regulatory factors IRF3 and IRF7, activating transcription of antiviral immunological genes including the IFN-alpha and IFN-beta interferons (PubMed:28469175, PubMed:31006531). Ligands include 5'-triphosphorylated ssRNAs and dsRNAs but also short dsRNAs (<1 kb in length). In addition to the 5'-triphosphate moiety, blunt-end base pairing at the 5'-end of the RNA is very essential. Overhangs at the non-triphosphorylated end of the dsRNA RNA have no major impact on its activity. A 3'overhang at the 5'triphosphate end decreases and any 5'overhang at the 5' triphosphate end abolishes its activity. Detects both positive and negative strand RNA viruses including members of the families Paramyxoviridae: Human respiratory syncytial virus and measles virus (MeV), Rhabdoviridae: vesicular stomatitis virus (VSV), Orthomyxoviridae: influenza A and B virus, Flaviviridae: Japanese encephalitis virus (JEV), hepatitis C virus (HCV), dengue virus (DENV) and west Nile virus (WNV). It also detects rotaviruses and reoviruses. Also involved in antiviral signaling in response to viruses containing a dsDNA genome such as Epstein-Barr virus (EBV). Detects dsRNA produced from non-self dsDNA by RNA polymerase III, such as Epstein-Barr virus-encoded RNAs (EBERs). May play important roles in granulocyte production and differentiation, bacterial phagocytosis and in the regulation of cell migration. {ECO:0000269|PubMed:15208624, ECO:0000269|PubMed:15708988, ECO:0000269|PubMed:16125763, ECO:0000269|PubMed:16127453, ECO:0000269|PubMed:16153868, ECO:0000269|PubMed:17190814, ECO:0000269|PubMed:18636086, ECO:0000269|PubMed:19122199, ECO:0000269|PubMed:19211564, ECO:0000269|PubMed:19576794, ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:21742966, ECO:0000269|PubMed:28469175, ECO:0000269|PubMed:29117565, ECO:0000269|PubMed:31006531}.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 DDX58-RBMS1


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 DDX58-RBMS1


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 DDX58-RBMS1


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 DDX58-RBMS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX58C0019196Hepatitis C1CTD_human
HgeneDDX58C0021400Influenza1CTD_human
HgeneDDX58C0030246Pustulosis of Palms and Soles1CTD_human
HgeneDDX58C0033860Psoriasis1CTD_human
HgeneDDX58C0235874Disease Exacerbation1CTD_human
HgeneDDX58C0432254Singleton Merten syndrome1ORPHANET
HgeneDDX58C4225380SINGLETON-MERTEN SYNDROME 21UNIPROT
HgeneDDX58C4225427SINGLETON-MERTEN SYNDROME 11GENOMICS_ENGLAND