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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:IL4R-ACMSD (FusionGDB2 ID:39388)

Fusion Gene Summary for IL4R-ACMSD

check button Fusion gene summary
Fusion gene informationFusion gene name: IL4R-ACMSD
Fusion gene ID: 39388
HgeneTgene
Gene symbol

IL4R

ACMSD

Gene ID

3566

130013

Gene nameinterleukin 4 receptoraminocarboxymuconate semialdehyde decarboxylase
SynonymsCD124|IL-4RA|IL4RA-
Cytomap

16p12.1

2q21.3

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-4 receptor subunit alphaIL-4 receptor subunit alphaIL4R nirs variant 1interleukin 13 receptorinterleukin-4 receptor alpha chain2-amino-3-carboxymuconate-6-semialdehyde decarboxylasepicolinate carboxylase
Modification date2020032220200313
UniProtAcc

P24394

.
Ensembl transtripts involved in fusion geneENST00000395762, ENST00000543915, 
ENST00000449195, ENST00000380922, 
ENST00000170630, ENST00000565915, 
ENST00000356140, ENST00000283054, 
ENST00000392928, 
Fusion gene scores* DoF score9 X 8 X 5=3604 X 5 X 4=80
# samples 108
** MAII scorelog2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/80*10)=0
Context

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

Most frequent breakpointIL4R(27325341)-ACMSD(135655911), # samples:1
IL4R(27341519)-ACMSD(135655911), # 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
TgeneACMSD

GO:1904985

negative regulation of quinolinate biosynthetic process

12140278


check buttonFusion gene breakpoints across IL4R (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 ACMSD (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
ChimerDB4SARCTCGA-DX-A8BN-01AIL4Rchr16

27325341

+ACMSDchr2

135655911

+
ChimerDB4SARCTCGA-DX-A8BN-01AIL4Rchr16

27341519

-ACMSDchr2

135655911

+


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Fusion Gene ORF analysis for IL4R-ACMSD

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-3CDSENST00000395762ENST00000356140IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000395762ENST00000283054IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000395762ENST00000392928IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000543915ENST00000356140IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000543915ENST00000283054IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000543915ENST00000392928IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000449195ENST00000356140IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000449195ENST00000283054IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000449195ENST00000392928IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000380922ENST00000356140IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000380922ENST00000283054IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000380922ENST00000392928IL4Rchr16

27325341

+ACMSDchr2

135655911

+
intron-3CDSENST00000170630ENST00000356140IL4Rchr16

27325341

+ACMSDchr2

135655911

+
intron-3CDSENST00000170630ENST00000283054IL4Rchr16

27325341

+ACMSDchr2

135655911

+
intron-3CDSENST00000170630ENST00000392928IL4Rchr16

27325341

+ACMSDchr2

135655911

+
intron-3CDSENST00000565915ENST00000356140IL4Rchr16

27325341

+ACMSDchr2

135655911

+
intron-3CDSENST00000565915ENST00000283054IL4Rchr16

27325341

+ACMSDchr2

135655911

+
intron-3CDSENST00000565915ENST00000392928IL4Rchr16

27325341

+ACMSDchr2

135655911

+
5UTR-3CDSENST00000395762ENST00000356140IL4Rchr16

27341519

-ACMSDchr2

135655911

+
5UTR-3CDSENST00000395762ENST00000283054IL4Rchr16

27341519

-ACMSDchr2

135655911

+
5UTR-3CDSENST00000395762ENST00000392928IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000543915ENST00000356140IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000543915ENST00000283054IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000543915ENST00000392928IL4Rchr16

27341519

-ACMSDchr2

135655911

+
5UTR-3CDSENST00000449195ENST00000356140IL4Rchr16

27341519

-ACMSDchr2

135655911

+
5UTR-3CDSENST00000449195ENST00000283054IL4Rchr16

27341519

-ACMSDchr2

135655911

+
5UTR-3CDSENST00000449195ENST00000392928IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000380922ENST00000356140IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000380922ENST00000283054IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000380922ENST00000392928IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000170630ENST00000356140IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000170630ENST00000283054IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000170630ENST00000392928IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000565915ENST00000356140IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000565915ENST00000283054IL4Rchr16

27341519

-ACMSDchr2

135655911

+
intron-3CDSENST00000565915ENST00000392928IL4Rchr16

27341519

-ACMSDchr2

135655911

+

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 IL4R-ACMSD


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)
IL4Rchr1627325341+ACMSDchr2135655910+0.0028894190.9971106
IL4Rchr1627325341+ACMSDchr2135655910+0.0028894190.9971106

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 IL4R-ACMSD


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: 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}.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.

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 IL4R-ACMSD


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 IL4R-ACMSD


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 IL4R-ACMSD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneIL4RP24394DB12159DupilumabAntagonistBiotechApproved|Investigational
HgeneIL4RP24394DB12159DupilumabAntagonistBiotechApproved|Investigational
HgeneIL4RP24394DB12159DupilumabAntagonistBiotechApproved|Investigational

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Related Diseases for IL4R-ACMSD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIL4RC0007134Renal Cell Carcinoma2CTD_human
HgeneIL4RC0279702Conventional (Clear Cell) Renal Cell Carcinoma2CTD_human
HgeneIL4RC1266042Chromophobe Renal Cell Carcinoma2CTD_human
HgeneIL4RC1266043Sarcomatoid Renal Cell Carcinoma2CTD_human
HgeneIL4RC1266044Collecting Duct Carcinoma of the Kidney2CTD_human
HgeneIL4RC1306837Papillary Renal Cell Carcinoma2CTD_human