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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:IL1R1-MAP4K4 (FusionGDB2 ID:39462)

Fusion Gene Summary for IL1R1-MAP4K4

check button Fusion gene summary
Fusion gene informationFusion gene name: IL1R1-MAP4K4
Fusion gene ID: 39462
HgeneTgene
Gene symbol

IL1R1

MAP4K4

Gene ID

3554

9448

Gene nameinterleukin 1 receptor type 1mitogen-activated protein kinase kinase kinase kinase 4
SynonymsCD121A|D2S1473|IL-1R-alpha|IL1R|IL1RA|P80FLH21957|HEL-S-31|HGK|MEKKK4|NIK
Cytomap

2q11.2-q12.1

2q11.2

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-1 receptor type 1CD121 antigen-like family member AIL-1R-1IL-1RT-1IL-1RT1interleukin 1 receptor alpha, type Iinterleukin-1 receptor alphainterleukin-1 receptor type Imitogen-activated protein kinase kinase kinase kinase 4HPK/GCK-like kinase HGKMAPK/ERK kinase kinase kinase 4MEK kinase kinase 4Ste20 group protein kinase HGKepididymis secretory protein Li 31hepatocyte progenitor kinase-like/germinal center kinase-
Modification date2020031320200315
UniProtAcc

P14778

O95819

Ensembl transtripts involved in fusion geneENST00000409329, ENST00000409589, 
ENST00000233946, ENST00000409288, 
ENST00000409929, ENST00000410023, 
ENST00000424272, 
ENST00000302217, 
ENST00000324219, ENST00000347699, 
ENST00000350198, ENST00000350878, 
ENST00000413150, ENST00000425019, 
ENST00000456652, ENST00000498066, 
Fusion gene scores* DoF score4 X 6 X 6=14413 X 14 X 8=1456
# samples 714
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1456*10)=-3.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IL1R1 [Title/Abstract] AND MAP4K4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAP4K4(102493608)-IL1R1(102770401), # samples:2
IL1R1(102721332)-MAP4K4(102499013), # 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
HgeneIL1R1

GO:0032729

positive regulation of interferon-gamma production

10653850

HgeneIL1R1

GO:0070498

interleukin-1-mediated signaling pathway

10383454

HgeneIL1R1

GO:0070555

response to interleukin-1

10383454

HgeneIL1R1

GO:2000556

positive regulation of T-helper 1 cell cytokine production

10653850

TgeneMAP4K4

GO:0006468

protein phosphorylation

9890973

TgeneMAP4K4

GO:0035556

intracellular signal transduction

9890973

TgeneMAP4K4

GO:0046328

regulation of JNK cascade

14966141


check buttonFusion gene breakpoints across IL1R1 (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 MAP4K4 (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
ChimerDB4KIRCTCGA-CZ-4857-01AIL1R1chr2

102721332

-MAP4K4chr2

102499013

+


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Fusion Gene ORF analysis for IL1R1-MAP4K4

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-3CDSENST00000409329ENST00000302217IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409329ENST00000324219IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409329ENST00000347699IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409329ENST00000350198IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409329ENST00000350878IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409329ENST00000413150IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409329ENST00000425019IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409329ENST00000456652IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000302217IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000324219IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000347699IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000350198IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000350878IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000413150IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000425019IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-3CDSENST00000409589ENST00000456652IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-intronENST00000409329ENST00000498066IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
5UTR-intronENST00000409589ENST00000498066IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000302217IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000324219IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000347699IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000350198IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000350878IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000413150IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000425019IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000233946ENST00000456652IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000302217IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000324219IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000347699IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000350198IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000350878IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000413150IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000425019IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409288ENST00000456652IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000302217IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000324219IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000347699IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000350198IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000350878IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000413150IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000425019IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000409929ENST00000456652IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000302217IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000324219IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000347699IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000350198IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000350878IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000413150IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000425019IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000410023ENST00000456652IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000302217IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000324219IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000347699IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000350198IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000350878IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000413150IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000425019IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-3CDSENST00000424272ENST00000456652IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-intronENST00000233946ENST00000498066IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-intronENST00000409288ENST00000498066IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-intronENST00000409929ENST00000498066IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-intronENST00000410023ENST00000498066IL1R1chr2

102721332

-MAP4K4chr2

102499013

+
intron-intronENST00000424272ENST00000498066IL1R1chr2

102721332

-MAP4K4chr2

102499013

+

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 IL1R1-MAP4K4


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 IL1R1-MAP4K4


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/:102493608/:102770401)
- 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
IL1R1

P14778

MAP4K4

O95819

FUNCTION: Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850). {ECO:0000269|PubMed:10653850, ECO:0000269|PubMed:10671496}.FUNCTION: Serine/threonine kinase that may play a role in the response to environmental stress and cytokines such as TNF-alpha. Appears to act upstream of the JUN N-terminal pathway. Phosphorylates SMAD1 on Thr-322. {ECO:0000269|PubMed:21690388, ECO:0000269|PubMed:9890973}.

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 IL1R1-MAP4K4


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 IL1R1-MAP4K4


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 IL1R1-MAP4K4


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 IL1R1-MAP4K4


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