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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:IL6ST-DDX4 (FusionGDB2 ID:HG3572TG54514)

Fusion Gene Summary for IL6ST-DDX4

check button Fusion gene summary
Fusion gene informationFusion gene name: IL6ST-DDX4
Fusion gene ID: hg3572tg54514
HgeneTgene
Gene symbol

IL6ST

DDX4

Gene ID

3572

54514

Gene nameinterleukin 6 signal transducerDEAD-box helicase 4
SynonymsCD130|CDW130|GP130|HIES4|IL-6RB|sGP130VASA
Cytomap('IL6ST')('DDX4')

5q11.2

5q11.2

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-6 receptor subunit betaCD130 antigenIL-6 receptor subunit betaIL-6R subunit betagp130 of the rheumatoid arthritis antigenic peptide-bearing soluble formgp130, oncostatin M receptorinterleukin receptor beta chainmembrane glycoprotein 130probable ATP-dependent RNA helicase DDX4DEAD (Asp-Glu-Ala-Asp) box polypeptide 4DEAD box protein 4DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4vasa homolog
Modification date2020032720200313
UniProtAcc

P40189

.
Ensembl transtripts involved in fusion geneENST00000336909, ENST00000381286, 
ENST00000381287, ENST00000381293, 
ENST00000381294, ENST00000381298, 
ENST00000396816, ENST00000502326, 
ENST00000522633, ENST00000536319, 
ENST00000577363, 
Fusion gene scores* DoF score16 X 11 X 5=8804 X 3 X 3=36
# samples 194
** MAII scorelog2(19/880*10)=-2.21150410519371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IL6ST [Title/Abstract] AND DDX4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIL6ST(55272043)-DDX4(55034778), # samples:3
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
HgeneIL6ST

GO:0008284

positive regulation of cell proliferation

2261637

HgeneIL6ST

GO:0019221

cytokine-mediated signaling pathway

2261637

HgeneIL6ST

GO:0034097

response to cytokine

2261637|8999038

HgeneIL6ST

GO:0048861

leukemia inhibitory factor signaling pathway

8999038|12643274

HgeneIL6ST

GO:0070120

ciliary neurotrophic factor-mediated signaling pathway

12643274



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
ChimerDB4PRADTCGA-ZG-A9L2-01AIL6STchr5

55272043

-DDX4chr5

55034778

+
ChimerDB4PRADTCGA-ZG-A9L2IL6STchr5

55272043

-DDX4chr5

55034778

+


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Fusion Gene ORF analysis for IL6ST-DDX4

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-3UTRENST00000336909ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000336909ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381286ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381286ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381287ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381287ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381293ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381293ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381294ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381294ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381298ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000381298ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000396816ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000396816ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000502326ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000502326ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000522633ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000522633ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000536319ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-3UTRENST00000536319ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000336909ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000336909ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000336909ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381286ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381286ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381286ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381287ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381287ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381287ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381293ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381293ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381293ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381294ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381294ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381294ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381298ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381298ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000381298ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000396816ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000396816ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000396816ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000502326ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000502326ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000502326ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000522633ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000522633ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000522633ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000536319ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000536319ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-5UTRENST00000536319ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000336909ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000381286ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000381287ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000381293ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000381294ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000381298ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000396816ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000502326ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000522633ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5CDS-intronENST00000536319ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+
5UTR-3UTRENST00000577363ENST00000354991IL6STchr5

55272043

-DDX4chr5

55034778

+
5UTR-3UTRENST00000577363ENST00000508580IL6STchr5

55272043

-DDX4chr5

55034778

+
5UTR-5UTRENST00000577363ENST00000353507IL6STchr5

55272043

-DDX4chr5

55034778

+
5UTR-5UTRENST00000577363ENST00000505374IL6STchr5

55272043

-DDX4chr5

55034778

+
5UTR-5UTRENST00000577363ENST00000514278IL6STchr5

55272043

-DDX4chr5

55034778

+
5UTR-intronENST00000577363ENST00000511853IL6STchr5

55272043

-DDX4chr5

55034778

+

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 IL6ST-DDX4


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)
IL6STchr555272042-DDX4chr555034777+5.54E-091
IL6STchr555272042-DDX4chr555034777+5.54E-091
IL6STchr555272042-DDX4chr555034777+5.54E-091
IL6STchr555272042-DDX4chr555034777+5.54E-091


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 IL6ST-DDX4


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/:55272043/:55034778)
- 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
IL6ST

P40189

.
FUNCTION: Signal-transducing molecule (PubMed:2261637). The receptor systems for IL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST for initiating signal transmission. Binding of IL6 to IL6R induces IL6ST homodimerization and formation of a high-affinity receptor complex, which activate the intracellular JAK-MAPK and JAK-STAT3 signaling pathways (PubMed:2261637, PubMed:19915009, PubMed:23294003). That causes phosphorylation of IL6ST tyrosine residues which in turn activates STAT3 (PubMed:19915009, PubMed:23294003, PubMed:25731159). In parallel, the IL6 signaling pathway induces the expression of two cytokine receptor signaling inhibitors, SOCS1 and SOCS3, which inhibit JAK and terminate the activity of the IL6 signaling pathway as a negative feedback loop (By similarity). Also activates the yes-associated protein 1 (YAP) and NOTCH pathways to control inflammation-induced epithelial regeneration, independently of STAT3 (By similarity). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity). {ECO:0000250|UniProtKB:Q00560, ECO:0000269|PubMed:19915009, ECO:0000269|PubMed:2261637, ECO:0000269|PubMed:23294003, ECO:0000269|PubMed:25731159, ECO:0000269|PubMed:28747427, ECO:0000269|PubMed:30309848}.; FUNCTION: [Isoform 2]: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response (PubMed:11121117, PubMed:21990364, PubMed:30279168). Also blocks IL11 cluster signaling through IL11R (PubMed:30279168). {ECO:0000269|PubMed:11121117, ECO:0000269|PubMed:21990364, ECO:0000269|PubMed:30279168}.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 IL6ST-DDX4


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 IL6ST-DDX4


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 IL6ST-DDX4


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 IL6ST-DDX4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIL6STC0033578Prostatic Neoplasms2CTD_human
HgeneIL6STC0376358Malignant neoplasm of prostate2CTD_human
HgeneIL6STC0003873Rheumatoid Arthritis1CTD_human
HgeneIL6STC0007097Carcinoma1CTD_human
HgeneIL6STC0009402Colorectal Carcinoma1CTD_human;UNIPROT
HgeneIL6STC0009404Colorectal Neoplasms1CTD_human
HgeneIL6STC0013595Eczema1GENOMICS_ENGLAND
HgeneIL6STC0014457Eosinophilia1GENOMICS_ENGLAND
HgeneIL6STC0020517Hypersensitivity1CTD_human
HgeneIL6STC0024667Animal Mammary Neoplasms1CTD_human
HgeneIL6STC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneIL6STC0032285Pneumonia1CTD_human
HgeneIL6STC0032300Lobar Pneumonia1CTD_human
HgeneIL6STC0035126Reperfusion Injury1CTD_human
HgeneIL6STC0151744Myocardial Ischemia1CTD_human
HgeneIL6STC0205696Anaplastic carcinoma1CTD_human
HgeneIL6STC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneIL6STC0205698Undifferentiated carcinoma1CTD_human
HgeneIL6STC0205699Carcinomatosis1CTD_human
HgeneIL6STC0236175Increased IgE level1GENOMICS_ENGLAND
HgeneIL6STC0238281Middle Cerebral Artery Syndrome1CTD_human
HgeneIL6STC0239998Recurrent infections1GENOMICS_ENGLAND
HgeneIL6STC0740376Middle Cerebral Artery Thrombosis1CTD_human
HgeneIL6STC0740391Middle Cerebral Artery Occlusion1CTD_human
HgeneIL6STC0740392Infarction, Middle Cerebral Artery1CTD_human
HgeneIL6STC0751845Middle Cerebral Artery Embolus1CTD_human
HgeneIL6STC0751846Left Middle Cerebral Artery Infarction1CTD_human
HgeneIL6STC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
HgeneIL6STC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
HgeneIL6STC0751849Right Middle Cerebral Artery Infarction1CTD_human
HgeneIL6STC0887898Experimental Lung Inflammation1CTD_human
HgeneIL6STC0919267ovarian neoplasm1CTD_human
HgeneIL6STC1140680Malignant neoplasm of ovary1CTD_human
HgeneIL6STC1257925Mammary Carcinoma, Animal1CTD_human
HgeneIL6STC1527304Allergic Reaction1CTD_human
HgeneIL6STC3714636Pneumonitis1CTD_human