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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:TOX3-CNTN5 (FusionGDB2 ID:92524)

Fusion Gene Summary for TOX3-CNTN5

check button Fusion gene summary
Fusion gene informationFusion gene name: TOX3-CNTN5
Fusion gene ID: 92524
HgeneTgene
Gene symbol

TOX3

CNTN5

Gene ID

27324

53942

Gene nameTOX high mobility group box family member 3contactin 5
SynonymsCAGF9|TNRC9HNB-2s|NB-2
Cytomap

16q12.1

11q22.1

Type of geneprotein-codingprotein-coding
DescriptionTOX high mobility group box family member 3CAG trinucleotide repeat-containing gene F9 proteintrinucleotide repeat-containing gene 9 proteincontactin-5neural adhesion moleculeneural recognition molecule NB-2
Modification date2020031320200329
UniProtAcc.

O94779

Ensembl transtripts involved in fusion geneENST00000407228, ENST00000219746, 
ENST00000527185, ENST00000528682, 
ENST00000524871, ENST00000418526, 
ENST00000279463, ENST00000524560, 
Fusion gene scores* DoF score11 X 10 X 8=88018 X 15 X 12=3240
# samples 1619
** MAII scorelog2(16/880*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/3240*10)=-4.09192248944104
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TOX3 [Title/Abstract] AND CNTN5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTOX3(52580549)-CNTN5(100061858), # samples:1
Anticipated loss of major functional domain due to fusion event.TOX3-CNTN5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneTOX3

GO:0042981

regulation of apoptotic process

21172805

HgeneTOX3

GO:0043524

negative regulation of neuron apoptotic process

21172805

HgeneTOX3

GO:0045893

positive regulation of transcription, DNA-templated

21172805


check buttonFusion gene breakpoints across TOX3 (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 CNTN5 (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
ChimerDB4PRADTCGA-KK-A59V-01ATOX3chr16

52580549

-CNTN5chr11

100061858

+


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Fusion Gene ORF analysis for TOX3-CNTN5

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-3CDSENST00000407228ENST00000527185TOX3chr16

52580549

-CNTN5chr11

100061858

+
intron-3CDSENST00000407228ENST00000528682TOX3chr16

52580549

-CNTN5chr11

100061858

+
intron-3CDSENST00000407228ENST00000524871TOX3chr16

52580549

-CNTN5chr11

100061858

+
intron-3CDSENST00000407228ENST00000418526TOX3chr16

52580549

-CNTN5chr11

100061858

+
intron-3CDSENST00000407228ENST00000279463TOX3chr16

52580549

-CNTN5chr11

100061858

+
intron-intronENST00000407228ENST00000524560TOX3chr16

52580549

-CNTN5chr11

100061858

+
Frame-shiftENST00000219746ENST00000527185TOX3chr16

52580549

-CNTN5chr11

100061858

+
Frame-shiftENST00000219746ENST00000528682TOX3chr16

52580549

-CNTN5chr11

100061858

+
Frame-shiftENST00000219746ENST00000524871TOX3chr16

52580549

-CNTN5chr11

100061858

+
Frame-shiftENST00000219746ENST00000418526TOX3chr16

52580549

-CNTN5chr11

100061858

+
Frame-shiftENST00000219746ENST00000279463TOX3chr16

52580549

-CNTN5chr11

100061858

+
5CDS-intronENST00000219746ENST00000524560TOX3chr16

52580549

-CNTN5chr11

100061858

+

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 TOX3-CNTN5


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)
TOX3chr1652580548-CNTN5chr11100061857+2.98E-050.9999702
TOX3chr1652580548-CNTN5chr11100061857+2.98E-050.9999702

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 TOX3-CNTN5


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CNTN5

O94779

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (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 TOX3-CNTN5


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 TOX3-CNTN5


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 TOX3-CNTN5


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 TOX3-CNTN5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTOX3C0006142Malignant neoplasm of breast1CTD_human
HgeneTOX3C0023903Liver neoplasms1CTD_human
HgeneTOX3C0238033Carcinoma of Male Breast1CTD_human
HgeneTOX3C0242788Breast Neoplasms, Male1CTD_human
HgeneTOX3C0345904Malignant neoplasm of liver1CTD_human
HgeneTOX3C0678222Breast Carcinoma1CTD_human
HgeneTOX3C1257931Mammary Neoplasms, Human1CTD_human
HgeneTOX3C1458155Mammary Neoplasms1CTD_human
HgeneTOX3C4704874Mammary Carcinoma, Human1CTD_human