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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:GAS5-IL4R (FusionGDB2 ID:32395)

Fusion Gene Summary for GAS5-IL4R

check button Fusion gene summary
Fusion gene informationFusion gene name: GAS5-IL4R
Fusion gene ID: 32395
HgeneTgene
Gene symbol

GAS5

IL4R

Gene ID

60674

3566

Gene namegrowth arrest specific 5interleukin 4 receptor
SynonymsNCRNA00030|SNHG2CD124|IL-4RA|IL4RA
Cytomap

1q25.1

16p12.1

Type of genencRNAprotein-coding
Descriptiongrowth arrest specific 5 (non-protein coding)growth arrest specific transcript 5small nucleolar RNA host gene (non-protein coding) 2interleukin-4 receptor subunit alphaIL-4 receptor subunit alphaIL4R nirs variant 1interleukin 13 receptorinterleukin-4 receptor alpha chain
Modification date2020032920200322
UniProtAcc.

P24394

Ensembl transtripts involved in fusion geneENST00000363840, ENST00000365524, 
ENST00000364822, ENST00000363859, 
ENST00000385578, ENST00000363146, 
ENST00000364084, 		ENST00000395762, 
ENST00000543915, ENST00000449195, 
ENST00000380922, ENST00000170630, 
ENST00000565915, 
Fusion gene scores* DoF score25 X 22 X 8=44007 X 8 X 5=280
# samples 277
** MAII scorelog2(27/4400*10)=-4.02647221136119
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/280*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GAS5 [Title/Abstract] AND IL4R [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGAS5(173833394)-IL4R(27357787), # 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

check buttonFusion gene breakpoints across GAS5 (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 IL4R (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
ChimerDB4Non-CancerTCGA-22-5481-11AGAS5chr1

173833394

-IL4Rchr16

27357787

+


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Fusion Gene ORF analysis for GAS5-IL4R

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-3CDSENST00000363840ENST00000395762GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363840ENST00000543915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363840ENST00000449195GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363840ENST00000380922GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363840ENST00000170630GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-intronENST00000363840ENST00000565915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000365524ENST00000395762GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000365524ENST00000543915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000365524ENST00000449195GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000365524ENST00000380922GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000365524ENST00000170630GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-intronENST00000365524ENST00000565915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364822ENST00000395762GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364822ENST00000543915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364822ENST00000449195GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364822ENST00000380922GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364822ENST00000170630GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-intronENST00000364822ENST00000565915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363859ENST00000395762GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363859ENST00000543915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363859ENST00000449195GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363859ENST00000380922GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363859ENST00000170630GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-intronENST00000363859ENST00000565915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000385578ENST00000395762GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000385578ENST00000543915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000385578ENST00000449195GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000385578ENST00000380922GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000385578ENST00000170630GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-intronENST00000385578ENST00000565915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363146ENST00000395762GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363146ENST00000543915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363146ENST00000449195GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363146ENST00000380922GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000363146ENST00000170630GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-intronENST00000363146ENST00000565915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364084ENST00000395762GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364084ENST00000543915GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364084ENST00000449195GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364084ENST00000380922GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-3CDSENST00000364084ENST00000170630GAS5chr1

173833394

-IL4Rchr16

27357787

+
intron-intronENST00000364084ENST00000565915GAS5chr1

173833394

-IL4Rchr16

27357787

+

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 GAS5-IL4R


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 GAS5-IL4R


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.IL4R

P24394

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2. {ECO:0000269|PubMed:8124718}.; FUNCTION: Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells. {ECO:0000269|PubMed:8124718}.

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 GAS5-IL4R


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 GAS5-IL4R


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 GAS5-IL4R


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIL4RP24394DB12159DupilumabAntagonistBiotechApproved|Investigational
TgeneIL4RP24394DB12159DupilumabAntagonistBiotechApproved|Investigational
TgeneIL4RP24394DB12159DupilumabAntagonistBiotechApproved|Investigational

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Related Diseases for GAS5-IL4R


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGAS5C0151744Myocardial Ischemia1CTD_human
TgeneIL4RC0007134Renal Cell Carcinoma2CTD_human
TgeneIL4RC0279702Conventional (Clear Cell) Renal Cell Carcinoma2CTD_human
TgeneIL4RC1266042Chromophobe Renal Cell Carcinoma2CTD_human
TgeneIL4RC1266043Sarcomatoid Renal Cell Carcinoma2CTD_human
TgeneIL4RC1266044Collecting Duct Carcinoma of the Kidney2CTD_human
TgeneIL4RC1306837Papillary Renal Cell Carcinoma2CTD_human