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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:MBNL2-RUNX1T1 (FusionGDB2 ID:52026)

Fusion Gene Summary for MBNL2-RUNX1T1

check button Fusion gene summary
Fusion gene informationFusion gene name: MBNL2-RUNX1T1
Fusion gene ID: 52026
HgeneTgene
Gene symbol

MBNL2

RUNX1T1

Gene ID

10150

862

Gene namemuscleblind like splicing regulator 2RUNX1 partner transcriptional co-repressor 1
SynonymsMBLL|MBLL39|PRO2032AML1-MTG8|AML1T1|CBFA2T1|CDR|ETO|MTG8|ZMYND2
Cytomap

13q32.1

8q21.3

Type of geneprotein-codingprotein-coding
Descriptionmuscleblind-like protein 2muscleblind-like 2muscleblind-like protein 1muscleblind-like protein-like 39protein CBFA2T1RUNX1 translocation partner 1acute myelogenous leukemia 1 translocation 1, cyclin-D relatedcore-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-relatedeight twenty one proteinmyeloid translocation gene on 8q2
Modification date2020031320200315
UniProtAcc

Q5VZF2

Q06455

Ensembl transtripts involved in fusion geneENST00000343600, ENST00000345429, 
ENST00000376673, ENST00000397601, 
ENST00000445661, 		ENST00000523629, 
ENST00000265814, ENST00000360348, 
ENST00000396218, ENST00000422361, 
ENST00000436581, ENST00000518844, 
ENST00000520724, ENST00000521553, 
ENST00000522163, 
Fusion gene scores* DoF score10 X 9 X 6=5407 X 47 X 4=1316
# samples 1150
** MAII scorelog2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(50/1316*10)=-1.39615948907315
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBNL2 [Title/Abstract] AND RUNX1T1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMBNL2(98046358)-RUNX1T1(92970843), # 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
HgeneMBNL2

GO:0043484

regulation of RNA splicing

15257297|16946708

TgeneRUNX1T1

GO:0045892

negative regulation of transcription, DNA-templated

23251453


check buttonFusion gene breakpoints across MBNL2 (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 RUNX1T1 (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
ChiTaRS5.0N/ABF216108MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+


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Fusion Gene ORF analysis for MBNL2-RUNX1T1

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-3UTRENST00000343600ENST00000523629MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-3UTRENST00000345429ENST00000523629MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-3UTRENST00000376673ENST00000523629MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-3UTRENST00000397601ENST00000523629MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000265814MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000360348MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000396218MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000422361MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000436581MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000518844MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000520724MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000521553MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000343600ENST00000522163MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000265814MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000360348MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000396218MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000422361MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000436581MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000518844MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000520724MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000521553MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000345429ENST00000522163MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000265814MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000360348MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000396218MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000422361MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000436581MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000518844MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000520724MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000521553MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000376673ENST00000522163MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000265814MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000360348MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000396218MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000422361MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000436581MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000518844MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000520724MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000521553MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
3UTR-intronENST00000397601ENST00000522163MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-3UTRENST00000445661ENST00000523629MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000265814MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000360348MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000396218MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000422361MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000436581MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000518844MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000520724MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000521553MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+
intron-intronENST00000445661ENST00000522163MBNL2chr13

98046358

+RUNX1T1chr8

92970843

+

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 MBNL2-RUNX1T1


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 MBNL2-RUNX1T1


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/:98046358/:92970843)
- 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
MBNL2

Q5VZF2

RUNX1T1

Q06455

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. RNA-binding protein that binds to 5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM). {ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16273094, ECO:0000269|PubMed:16946708}.FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199, PubMed:10688654). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588). {ECO:0000250|UniProtKB:Q61909, ECO:0000269|PubMed:10688654, ECO:0000269|PubMed:10973986, ECO:0000269|PubMed:16803958, ECO:0000269|PubMed:23251453, ECO:0000269|PubMed:23812588, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}.

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 MBNL2-RUNX1T1


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 MBNL2-RUNX1T1


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 MBNL2-RUNX1T1


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 MBNL2-RUNX1T1


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