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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:IRF8-HOXB-AS3 (FusionGDB2 ID:40271)

Fusion Gene Summary for IRF8-HOXB-AS3

check button Fusion gene summary
Fusion gene informationFusion gene name: IRF8-HOXB-AS3
Fusion gene ID: 40271
HgeneTgene
Gene symbol

IRF8

HOXB-AS3

Gene ID

3394

404266

Gene nameinterferon regulatory factor 8HOXB cluster antisense RNA 3
SynonymsH-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8-
Cytomap

16q24.1

17q21.32

Type of geneprotein-codingncRNA
Descriptioninterferon regulatory factor 8interferon consensus sequence binding protein 1HOXB cluster antisense RNA 3 (non-protein coding)
Modification date2020031320200315
UniProtAcc

Q02556

.
Ensembl transtripts involved in fusion geneENST00000268638, ENST00000562492, 
ENST00000563180, 		ENST00000429755, 
ENST00000460041, ENST00000465846, 
ENST00000466037, ENST00000467155, 
ENST00000474040, ENST00000474324, 
ENST00000476204, ENST00000477144, 
ENST00000480872, ENST00000481995, 
ENST00000487849, ENST00000491264, 
ENST00000492897, ENST00000494420, 
Fusion gene scores* DoF score3 X 3 X 1=94 X 4 X 1=16
# samples 34
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IRF8 [Title/Abstract] AND HOXB-AS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIRF8(85955997)-HOXB-AS3(46678257), # 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
HgeneIRF8

GO:0000122

negative regulation of transcription by RNA polymerase II

1460054|25122610

HgeneIRF8

GO:0045944

positive regulation of transcription by RNA polymerase II

25122610

HgeneIRF8

GO:0071346

cellular response to interferon-gamma

25122610


check buttonFusion gene breakpoints across IRF8 (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 HOXB-AS3 (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
ChiTaRS5.0N/ABF062449IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+


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Fusion Gene ORF analysis for IRF8-HOXB-AS3

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
3UTR-intronENST00000268638ENST00000429755IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000460041IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000465846IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000466037IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000467155IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000474040IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000474324IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000476204IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000477144IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000480872IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000481995IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000487849IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000491264IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000492897IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
3UTR-intronENST00000268638ENST00000494420IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000429755IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000460041IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000465846IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000466037IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000467155IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000474040IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000474324IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000476204IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000477144IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000480872IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000481995IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000487849IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000491264IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000492897IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000562492ENST00000494420IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000429755IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000460041IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000465846IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000466037IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000467155IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000474040IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000474324IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000476204IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000477144IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000480872IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000481995IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000487849IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000491264IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000492897IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+
intron-intronENST00000563180ENST00000494420IRF8chr16

85955997

-HOXB-AS3chr17

46678257

+

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 IRF8-HOXB-AS3


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 IRF8-HOXB-AS3


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/:85955997/:46678257)
- 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
IRF8

Q02556

.
FUNCTION: Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) (PubMed:25122610). Can both act as a transcriptional activator or repressor (By similarity). Plays a negative regulatory role in cells of the immune system (By similarity). Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592). {ECO:0000250|UniProtKB:P23611, ECO:0000269|PubMed:25122610, ECO:0000269|PubMed:29434592}.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 IRF8-HOXB-AS3


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 IRF8-HOXB-AS3


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 IRF8-HOXB-AS3


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 IRF8-HOXB-AS3


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