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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:IRS1-TXNL1 (FusionGDB2 ID:HG3667TG9352)

Fusion Gene Summary for IRS1-TXNL1

check button Fusion gene summary
Fusion gene informationFusion gene name: IRS1-TXNL1
Fusion gene ID: hg3667tg9352
HgeneTgene
Gene symbol

IRS1

TXNL1

Gene ID

3667

9352

Gene nameinsulin receptor substrate 1thioredoxin like 1
SynonymsHIRS-1HEL-S-114|TRP32|TXL-1|TXNL|Txl
Cytomap('IRS1')('TXNL1')

2q36.3

18q21.31

Type of geneprotein-codingprotein-coding
Descriptioninsulin receptor substrate 1IRS-1thioredoxin-like protein 132 kDa thioredoxin-related proteinepididymis secretory protein Li 114thioredoxin-related 32 kDa proteinthioredoxin-related protein 1
Modification date2020031320200313
UniProtAcc

P35568

.
Ensembl transtripts involved in fusion geneENST00000305123, ENST00000498335, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 8 X 4=288
# samples 110
** MAII scorelog2(1/1*10)=3.32192809488736log2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IRS1 [Title/Abstract] AND TXNL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIRS1(227600778)-TXNL1(54270057), # 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
HgeneIRS1

GO:0008286

insulin receptor signaling pathway

16516141|23401856

HgeneIRS1

GO:0014065

phosphatidylinositol 3-kinase signaling

7782332

HgeneIRS1

GO:0032868

response to insulin

16516141

HgeneIRS1

GO:0046326

positive regulation of glucose import

7493946

HgeneIRS1

GO:0046628

positive regulation of insulin receptor signaling pathway

7493946

HgeneIRS1

GO:0046676

negative regulation of insulin secretion

15572028



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/ABM146048IRS1chr2

227600778

+TXNL1chr18

54270057

+


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Fusion Gene ORF analysis for IRS1-TXNL1

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
intron-3UTRENST00000305123ENST00000217515IRS1chr2

227600778

+TXNL1chr18

54270057

+
intron-3UTRENST00000498335ENST00000217515IRS1chr2

227600778

+TXNL1chr18

54270057

+
intron-intronENST00000305123ENST00000540155IRS1chr2

227600778

+TXNL1chr18

54270057

+
intron-intronENST00000305123ENST00000585497IRS1chr2

227600778

+TXNL1chr18

54270057

+
intron-intronENST00000305123ENST00000590954IRS1chr2

227600778

+TXNL1chr18

54270057

+
intron-intronENST00000498335ENST00000540155IRS1chr2

227600778

+TXNL1chr18

54270057

+
intron-intronENST00000498335ENST00000585497IRS1chr2

227600778

+TXNL1chr18

54270057

+
intron-intronENST00000498335ENST00000590954IRS1chr2

227600778

+TXNL1chr18

54270057

+

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 IRS1-TXNL1


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 IRS1-TXNL1


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/:227600778/:54270057)
- 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
IRS1

P35568

.
FUNCTION: May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit (By similarity). {ECO:0000250, ECO:0000269|PubMed:16878150}.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 IRS1-TXNL1


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 IRS1-TXNL1


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 IRS1-TXNL1


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 IRS1-TXNL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIRS1C0011860Diabetes Mellitus, Non-Insulin-Dependent9CTD_human;UNIPROT
HgeneIRS1C2239176Liver carcinoma2CTD_human
HgeneIRS1C0002152Alloxan Diabetes1CTD_human
HgeneIRS1C0007621Neoplastic Cell Transformation1CTD_human
HgeneIRS1C0010054Coronary Arteriosclerosis1CTD_human
HgeneIRS1C0010068Coronary heart disease1CTD_human
HgeneIRS1C0011849Diabetes Mellitus1CTD_human
HgeneIRS1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneIRS1C0020459Hyperinsulinism1CTD_human
HgeneIRS1C0020473Hyperlipidemia1CTD_human
HgeneIRS1C0021655Insulin Resistance1CTD_human
HgeneIRS1C0028754Obesity1CTD_human
HgeneIRS1C0032927Precancerous Conditions1CTD_human
HgeneIRS1C0033578Prostatic Neoplasms1CTD_human
HgeneIRS1C0038433Streptozotocin Diabetes1CTD_human
HgeneIRS1C0282313Condition, Preneoplastic1CTD_human
HgeneIRS1C0376358Malignant neoplasm of prostate1CTD_human
HgeneIRS1C0920563Insulin Sensitivity1CTD_human
HgeneIRS1C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneIRS1C1257963Endogenous Hyperinsulinism1CTD_human
HgeneIRS1C1257964Exogenous Hyperinsulinism1CTD_human
HgeneIRS1C1257965Compensatory Hyperinsulinemia1CTD_human
HgeneIRS1C1706412Lipidemias1CTD_human
HgeneIRS1C1956346Coronary Artery Disease1CTD_human