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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:IRX2-C5orf38 (FusionGDB2 ID:40286)

Fusion Gene Summary for IRX2-C5orf38

check button Fusion gene summary
Fusion gene informationFusion gene name: IRX2-C5orf38
Fusion gene ID: 40286
HgeneTgene
Gene symbol

IRX2

C5orf38

Gene ID

153572

153571

Gene nameiroquois homeobox 2chromosome 5 open reading frame 38
SynonymsIRXA2CEI|IRX2NB
Cytomap

5p15.33

5p15.33

Type of geneprotein-codingprotein-coding
Descriptioniroquois-class homeodomain protein IRX-2homeodomain protein IRXA2iroquois homeobox protein 2protein CEIIRX2 neighborcoordinated expression to IRX2coordinated expression to IRXA2 homeoboxcoordinated expression to IRXA2 protein
Modification date2020031320200320
UniProtAcc

Q9BZI1

.
Ensembl transtripts involved in fusion geneENST00000302057, ENST00000382611, 
ENST00000502957, 		ENST00000505778, 
ENST00000397835, ENST00000515640, 
ENST00000457752, ENST00000334000, 
Fusion gene scores* DoF score2 X 3 X 2=123 X 3 X 3=27
# samples 35
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/27*10)=0.888968687611256
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IRX2 [Title/Abstract] AND C5orf38 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIRX2(2748459)-C5orf38(2755143), # samples:2
Anticipated loss of major functional domain due to fusion event.IRX2-C5orf38 seems lost the major protein functional domain in Hgene partner, which is a transcription factor 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
HgeneIRX2

GO:0000122

negative regulation of transcription by RNA polymerase II

26560478


check buttonFusion gene breakpoints across IRX2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across C5orf38 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-A7EI-01AIRX2chr5

2748459

-C5orf38chr5

2755143

+
ChimerDB4SARCTCGA-DX-A7EIIRX2chr5

2748458

-C5orf38chr5

2755142

+


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Fusion Gene ORF analysis for IRX2-C5orf38

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-3UTRENST00000302057ENST00000505778IRX2chr5

2748459

-C5orf38chr5

2755143

+
5CDS-3UTRENST00000302057ENST00000505778IRX2chr5

2748458

-C5orf38chr5

2755142

+
5CDS-3UTRENST00000382611ENST00000505778IRX2chr5

2748459

-C5orf38chr5

2755143

+
5CDS-3UTRENST00000382611ENST00000505778IRX2chr5

2748458

-C5orf38chr5

2755142

+
5CDS-intronENST00000302057ENST00000397835IRX2chr5

2748459

-C5orf38chr5

2755143

+
5CDS-intronENST00000302057ENST00000397835IRX2chr5

2748458

-C5orf38chr5

2755142

+
5CDS-intronENST00000302057ENST00000515640IRX2chr5

2748459

-C5orf38chr5

2755143

+
5CDS-intronENST00000302057ENST00000515640IRX2chr5

2748458

-C5orf38chr5

2755142

+
5CDS-intronENST00000382611ENST00000397835IRX2chr5

2748459

-C5orf38chr5

2755143

+
5CDS-intronENST00000382611ENST00000397835IRX2chr5

2748458

-C5orf38chr5

2755142

+
5CDS-intronENST00000382611ENST00000515640IRX2chr5

2748459

-C5orf38chr5

2755143

+
5CDS-intronENST00000382611ENST00000515640IRX2chr5

2748458

-C5orf38chr5

2755142

+
Frame-shiftENST00000302057ENST00000457752IRX2chr5

2748459

-C5orf38chr5

2755143

+
Frame-shiftENST00000302057ENST00000457752IRX2chr5

2748458

-C5orf38chr5

2755142

+
Frame-shiftENST00000382611ENST00000457752IRX2chr5

2748459

-C5orf38chr5

2755143

+
Frame-shiftENST00000382611ENST00000457752IRX2chr5

2748458

-C5orf38chr5

2755142

+
In-frameENST00000302057ENST00000334000IRX2chr5

2748459

-C5orf38chr5

2755143

+
In-frameENST00000302057ENST00000334000IRX2chr5

2748458

-C5orf38chr5

2755142

+
In-frameENST00000382611ENST00000334000IRX2chr5

2748459

-C5orf38chr5

2755143

+
In-frameENST00000382611ENST00000334000IRX2chr5

2748458

-C5orf38chr5

2755142

+
intron-3CDSENST00000502957ENST00000334000IRX2chr5

2748459

-C5orf38chr5

2755143

+
intron-3CDSENST00000502957ENST00000334000IRX2chr5

2748458

-C5orf38chr5

2755142

+
intron-3CDSENST00000502957ENST00000457752IRX2chr5

2748459

-C5orf38chr5

2755143

+
intron-3CDSENST00000502957ENST00000457752IRX2chr5

2748458

-C5orf38chr5

2755142

+
intron-3UTRENST00000502957ENST00000505778IRX2chr5

2748459

-C5orf38chr5

2755143

+
intron-3UTRENST00000502957ENST00000505778IRX2chr5

2748458

-C5orf38chr5

2755142

+
intron-intronENST00000502957ENST00000397835IRX2chr5

2748459

-C5orf38chr5

2755143

+
intron-intronENST00000502957ENST00000397835IRX2chr5

2748458

-C5orf38chr5

2755142

+
intron-intronENST00000502957ENST00000515640IRX2chr5

2748459

-C5orf38chr5

2755143

+
intron-intronENST00000502957ENST00000515640IRX2chr5

2748458

-C5orf38chr5

2755142

+

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 IRX2-C5orf38


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)
IRX2chr52748458-C5orf38chr52755142+3.20E-081
IRX2chr52748458-C5orf38chr52755142+3.20E-081
IRX2chr52748458-C5orf38chr52755142+3.20E-081
IRX2chr52748458-C5orf38chr52755142+3.20E-081

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.
genomic feature

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 IRX2-C5orf38


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/chr5:2748459/chr5:2755143)
- 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
IRX2

Q9BZI1

.
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
HgeneIRX2chr5:2748458chr5:2755142ENST00000302057-34112_175454472.0DNA bindingHomeobox%3B TALE-type
HgeneIRX2chr5:2748458chr5:2755142ENST00000382611-35112_175454510.0DNA bindingHomeobox%3B TALE-type
HgeneIRX2chr5:2748459chr5:2755143ENST00000302057-34112_175454472.0DNA bindingHomeobox%3B TALE-type
HgeneIRX2chr5:2748459chr5:2755143ENST00000382611-35112_175454510.0DNA bindingHomeobox%3B TALE-type

- 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 IRX2-C5orf38


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 IRX2-C5orf38


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 IRX2-C5orf38


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 IRX2-C5orf38


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