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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:IRAK4-HN1 (FusionGDB2 ID:HG51135TG100462977)

Fusion Gene Summary for IRAK4-HN1

check button Fusion gene summary
Fusion gene informationFusion gene name: IRAK4-HN1
Fusion gene ID: hg51135tg100462977
HgeneTgene
Gene symbol

IRAK4

HN1

Gene ID

51135

100462977

Gene nameinterleukin 1 receptor associated kinase 4MT-RNR2 like 1
SynonymsIPD1|IRAK-4|NY-REN-64|REN64HN1
Cytomap('IRAK4')('HN1')

12q12

17p11.2

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-1 receptor-associated kinase 4renal carcinoma antigen NY-REN-64humanin-like 1MTRNR2-like 1humanin-like protein 1
Modification date2020031320200313
UniProtAcc

Q9NWZ3

.
Ensembl transtripts involved in fusion geneENST00000431837, ENST00000440781, 
ENST00000448290, ENST00000551736, 
Fusion gene scores* DoF score1 X 1 X 1=110 X 3 X 6=180
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/180*10)=-0.710493382805015
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IRAK4 [Title/Abstract] AND HN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIRAK4(44152819)-HN1(73132345), # 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 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
ChimerDB4STADTCGA-HU-A4GYIRAK4chr12

44152819

+HN1chr17

73132345

-


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Fusion Gene ORF analysis for IRAK4-HN1

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-3CDSENST00000431837ENST00000356033IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000431837ENST00000392566IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000431837ENST00000405458IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000431837ENST00000409753IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000431837ENST00000470924IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000431837ENST00000476258IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000431837ENST00000481647IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000431837ENST00000482348IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000356033IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000392566IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000405458IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000409753IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000470924IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000476258IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000481647IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000440781ENST00000482348IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000356033IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000392566IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000405458IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000409753IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000470924IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000476258IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000481647IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000448290ENST00000482348IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000356033IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000392566IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000405458IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000409753IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000470924IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000476258IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000481647IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3CDSENST00000551736ENST00000482348IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3UTRENST00000431837ENST00000581874IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3UTRENST00000440781ENST00000581874IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3UTRENST00000448290ENST00000581874IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-3UTRENST00000551736ENST00000581874IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-intronENST00000431837ENST00000465454IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-intronENST00000440781ENST00000465454IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-intronENST00000448290ENST00000465454IRAK4chr12

44152819

+HN1chr17

73132345

-
5UTR-intronENST00000551736ENST00000465454IRAK4chr12

44152819

+HN1chr17

73132345

-

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 IRAK4-HN1


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)


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Fusion Protein Features for IRAK4-HN1


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/:44152819/:73132345)
- 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
IRAK4

Q9NWZ3

.
FUNCTION: Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways (PubMed:17878374). Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation to form the Myddosome together with IRAK2. Phosphorylates initially IRAK1, thus stimulating the kinase activity and intensive autophosphorylation of IRAK1. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs (CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nuclear translocation and activation. Alternatively, phosphorylates TIRAP to promote its ubiquitination and subsequent degradation. Phosphorylates NCF1 and regulates NADPH oxidase activation after LPS stimulation suggesting a similar mechanism during microbial infections. {ECO:0000269|PubMed:11960013, ECO:0000269|PubMed:12538665, ECO:0000269|PubMed:15084582, ECO:0000269|PubMed:17217339, ECO:0000269|PubMed:17337443, ECO:0000269|PubMed:17878374, ECO:0000269|PubMed:17997719, ECO:0000269|PubMed:20400509, ECO:0000269|PubMed:24316379}.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 IRAK4-HN1


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 IRAK4-HN1


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 IRAK4-HN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneIRAK4Q9NWZ3DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for IRAK4-HN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIRAK4C1843256IRAK4 Deficiency6CTD_human;ORPHANET;UNIPROT
HgeneIRAK4C0024141Lupus Erythematosus, Systemic1CTD_human
HgeneIRAK4C0033578Prostatic Neoplasms1CTD_human
HgeneIRAK4C0178540Cerebral Hypoxia-Ischemia1CTD_human
HgeneIRAK4C0242380Libman-Sacks Disease1CTD_human
HgeneIRAK4C0376358Malignant neoplasm of prostate1CTD_human
HgeneIRAK4C0752304Hypoxic-Ischemic Encephalopathy1CTD_human
HgeneIRAK4C0752305Anoxic-Ischemic Encephalopathy1CTD_human
HgeneIRAK4C0752306Anoxia-Ischemia, Brain1CTD_human
HgeneIRAK4C0752307Anoxia-Ischemia, Cerebral1CTD_human
HgeneIRAK4C0752308Hypoxia-Ischemia, Brain1CTD_human
HgeneIRAK4C1835828Invasive Pneumococcal Disease, Recurrent Isolated, 11CTD_human;GENOMICS_ENGLAND