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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:TJP2-FXN (FusionGDB2 ID:91059)

Fusion Gene Summary for TJP2-FXN

check button Fusion gene summary
Fusion gene informationFusion gene name: TJP2-FXN
Fusion gene ID: 91059
HgeneTgene
Gene symbol

TJP2

FXN

Gene ID

9414

2395

Gene nametight junction protein 2frataxin
SynonymsC9DUPq21.11|DFNA51|DUP9q21.11|PFIC4|X104|ZO2CyaY|FA|FARR|FRDA|X25
Cytomap

9q21.11

9q21.11

Type of geneprotein-codingprotein-coding
Descriptiontight junction protein ZO-2Friedreich ataxia region gene X104 (tight junction protein ZO-2)zona occludens 2zonula occludens protein 2frataxin, mitochondrialFriedreich ataxia protein
Modification date2020032020200315
UniProtAcc.

Q16595

Ensembl transtripts involved in fusion geneENST00000377259, ENST00000453658, 
ENST00000265384, ENST00000348208, 
ENST00000377245, ENST00000498204, 
ENST00000535702, ENST00000539225, 
ENST00000377270, ENST00000396364, 
ENST00000396366, ENST00000498653, 
Fusion gene scores* DoF score13 X 14 X 8=14568 X 8 X 7=448
# samples 1510
** MAII scorelog2(15/1456*10)=-3.27897594970282
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/448*10)=-2.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TJP2 [Title/Abstract] AND FXN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTJP2(71766687)-FXN(71661301), # samples:4
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
HgeneTJP2

GO:0034109

homotypic cell-cell adhesion

21679692

TgeneFXN

GO:0010722

regulation of ferrochelatase activity

15123683

TgeneFXN

GO:0016226

iron-sulfur cluster assembly

29491838

TgeneFXN

GO:0016540

protein autoprocessing

12785837

TgeneFXN

GO:0018283

iron incorporation into metallo-sulfur cluster

12785837

TgeneFXN

GO:0051349

positive regulation of lyase activity

20053667

TgeneFXN

GO:0070301

cellular response to hydrogen peroxide

15641778


check buttonFusion gene breakpoints across TJP2 (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 FXN (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
ChimerDB4BLCATCGA-BL-A0C8-01ATJP2chr9

71766687

-FXNchr9

71661301

+
ChimerDB4BLCATCGA-BL-A0C8-01ATJP2chr9

71766687

+FXNchr9

71661301

+
ChimerDB4ESCATCGA-L5-A4OQ-01ATJP2chr9

71766687

-FXNchr9

71661301

+
ChimerDB4OVTCGA-29-1697-01ATJP2chr9

71766687

+FXNchr9

71714817

+
ChimerDB4TGCTTCGA-2G-AALW-01ATJP2chr9

71766687

-FXNchr9

71714817

+
ChimerDB4TGCTTCGA-2G-AALWTJP2chr9

71766687

+FXNchr9

71714817

+


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Fusion Gene ORF analysis for TJP2-FXN

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-3CDSENST00000377259ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-3CDSENST00000377259ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-3CDSENST00000377259ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
5UTR-3CDSENST00000377259ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-3CDSENST00000453658ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-3CDSENST00000453658ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-3CDSENST00000453658ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
5UTR-3CDSENST00000453658ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-5UTRENST00000377259ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-5UTRENST00000453658ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
5UTR-intronENST00000377259ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
5UTR-intronENST00000377259ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
5UTR-intronENST00000377259ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+
5UTR-intronENST00000453658ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
5UTR-intronENST00000453658ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
5UTR-intronENST00000453658ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+
intron-3CDSENST00000265384ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000265384ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000265384ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
intron-3CDSENST00000265384ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000348208ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000348208ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000348208ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
intron-3CDSENST00000348208ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000377245ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000377245ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000377245ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
intron-3CDSENST00000377245ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000498204ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000498204ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000498204ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
intron-3CDSENST00000498204ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000535702ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000535702ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000535702ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
intron-3CDSENST00000535702ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000539225ENST00000377270TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000539225ENST00000396364TJP2chr9

71766687

+FXNchr9

71661301

+
intron-3CDSENST00000539225ENST00000396364TJP2chr9

71766687

+FXNchr9

71714817

+
intron-3CDSENST00000539225ENST00000396366TJP2chr9

71766687

+FXNchr9

71661301

+
intron-5UTRENST00000265384ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
intron-5UTRENST00000348208ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
intron-5UTRENST00000377245ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
intron-5UTRENST00000498204ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
intron-5UTRENST00000535702ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
intron-5UTRENST00000539225ENST00000498653TJP2chr9

71766687

+FXNchr9

71661301

+
intron-intronENST00000265384ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000265384ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000265384ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000348208ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000348208ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000348208ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000377245ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000377245ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000377245ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000498204ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000498204ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000498204ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000535702ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000535702ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000535702ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000539225ENST00000377270TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000539225ENST00000396366TJP2chr9

71766687

+FXNchr9

71714817

+
intron-intronENST00000539225ENST00000498653TJP2chr9

71766687

+FXNchr9

71714817

+

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 TJP2-FXN


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)
TJP2chr971766687+FXNchr971714816+0.177476870.8225232
TJP2chr971766687+FXNchr971714816+0.177476870.8225232
TJP2chr971766687+FXNchr971661300+0.0003004270.9996996
TJP2chr971766687+FXNchr971714816+0.177476870.8225232
TJP2chr971766687+FXNchr971714816+0.177476870.8225232
TJP2chr971766687+FXNchr971661300+0.0003004270.9996996

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.
genomic feature of top 1%

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Fusion Protein Features for TJP2-FXN


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/:71766687/:71661301)
- 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
.FXN

Q16595

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}.FUNCTION: Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1. {ECO:0000269|PubMed:12785837, ECO:0000269|PubMed:15247478, ECO:0000269|PubMed:15641778, ECO:0000269|PubMed:16239244, ECO:0000269|PubMed:16608849, ECO:0000269|PubMed:20053667}.

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 TJP2-FXN


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 TJP2-FXN


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 TJP2-FXN


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 TJP2-FXN


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