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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:MBNL1-TERF2 (FusionGDB2 ID:52015)

Fusion Gene Summary for MBNL1-TERF2

check button Fusion gene summary
Fusion gene informationFusion gene name: MBNL1-TERF2
Fusion gene ID: 52015
HgeneTgene
Gene symbol

MBNL1

TERF2

Gene ID

4154

7014

Gene namemuscleblind like splicing regulator 1telomeric repeat binding factor 2
SynonymsEXP|MBNLTRBF2|TRF2
Cytomap

3q25.1-q25.2

16q22.1

Type of geneprotein-codingprotein-coding
Descriptionmuscleblind-like protein 1muscleblind-liketriplet-expansion RNA-binding proteintelomeric repeat-binding factor 2TTAGGG repeat-binding factor 2telomeric DNA-binding proteintelomeric repeat binding protein 2
Modification date2020032720200313
UniProtAcc

Q9NR56

.
Ensembl transtripts involved in fusion geneENST00000461436, ENST00000282486, 
ENST00000282488, ENST00000324210, 
ENST00000355460, ENST00000493459, 
ENST00000324196, ENST00000357472, 
ENST00000463374, ENST00000485509, 
ENST00000485910, ENST00000492948, 
ENST00000498502, ENST00000545754, 
ENST00000254942, ENST00000603068, 
ENST00000567296, ENST00000569611, 
Fusion gene scores* DoF score19 X 10 X 10=19008 X 7 X 5=280
# samples 2112
** MAII scorelog2(21/1900*10)=-3.17753818555219
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/280*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBNL1 [Title/Abstract] AND TERF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMBNL1(151986881)-TERF2(69395392), # 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
HgeneMBNL1

GO:0008380

RNA splicing

18335541

HgeneMBNL1

GO:0043484

regulation of RNA splicing

15257297|16946708

TgeneTERF2

GO:0031627

telomeric loop formation

10338214

TgeneTERF2

GO:0032205

negative regulation of telomere maintenance

17055345

TgeneTERF2

GO:0032210

regulation of telomere maintenance via telomerase

23685356

TgeneTERF2

GO:0032211

negative regulation of telomere maintenance via telomerase

17055345

TgeneTERF2

GO:1903770

negative regulation of beta-galactosidase activity

11927518

TgeneTERF2

GO:1905778

negative regulation of exonuclease activity

15200954

TgeneTERF2

GO:1905839

negative regulation of telomeric D-loop disassembly

15200954


check buttonFusion gene breakpoints across MBNL1 (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 TERF2 (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
ChimerDB4STADTCGA-CD-5813-01AMBNL1chr3

151986881

+TERF2chr16

69395392

-


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Fusion Gene ORF analysis for MBNL1-TERF2

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
3UTR-3CDSENST00000461436ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
3UTR-3CDSENST00000461436ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
3UTR-intronENST00000461436ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
3UTR-intronENST00000461436ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000282486ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000282486ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000282488ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000282488ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000324210ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000324210ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000355460ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000355460ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000493459ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-3CDSENST00000493459ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000282486ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000282486ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000282488ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000282488ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000324210ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000324210ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000355460ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000355460ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000493459ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
5UTR-intronENST00000493459ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000324196ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000324196ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000357472ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000357472ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000463374ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000463374ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000485509ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000485509ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000485910ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000485910ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000492948ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000492948ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000498502ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000498502ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000545754ENST00000254942MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-3CDSENST00000545754ENST00000603068MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000324196ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000324196ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000357472ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000357472ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000463374ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000463374ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000485509ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000485509ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000485910ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000485910ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000492948ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000492948ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000498502ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000498502ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000545754ENST00000567296MBNL1chr3

151986881

+TERF2chr16

69395392

-
intron-intronENST00000545754ENST00000569611MBNL1chr3

151986881

+TERF2chr16

69395392

-

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 MBNL1-TERF2


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 MBNL1-TERF2


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/:151986881/:69395392)
- 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
MBNL1

Q9NR56

.
FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:18335541, ECO:0000269|PubMed:19470458}.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 MBNL1-TERF2


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 MBNL1-TERF2


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 MBNL1-TERF2


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 MBNL1-TERF2


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