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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:MBD5-ACVR2A (FusionGDB2 ID:HG55777TG92)

Fusion Gene Summary for MBD5-ACVR2A

check button Fusion gene summary
Fusion gene informationFusion gene name: MBD5-ACVR2A
Fusion gene ID: hg55777tg92
HgeneTgene
Gene symbol

MBD5

ACVR2A

Gene ID

55777

92

Gene namemethyl-CpG binding domain protein 5activin A receptor type 2A
SynonymsMRD1ACTRII|ACVR2
Cytomap('MBD5')('ACVR2A')

2q23.1

2q22.3-q23.1

Type of geneprotein-codingprotein-coding
Descriptionmethyl-CpG-binding domain protein 5methyl-CpG-binding protein MBD5activin receptor type-2Aactivin A receptor, type IIA
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000407073, ENST00000404807, 
ENST00000478804, 
ENST00000478804, 
ENST00000407073, ENST00000404807, 
Fusion gene scores* DoF score12 X 9 X 6=6485 X 6 X 5=150
# samples 126
** MAII scorelog2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBD5 [Title/Abstract] AND ACVR2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMBD5(148779253)-ACVR2A(148653870), # samples:2
Anticipated loss of major functional domain due to fusion event.ACVR2A-MBD5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ACVR2A-MBD5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
TgeneACVR2A

GO:0030509

BMP signaling pathway

18436533

TgeneACVR2A

GO:0032927

positive regulation of activin receptor signaling pathway

12665502

TgeneACVR2A

GO:0045648

positive regulation of erythrocyte differentiation

9032295



check button Fusion gene information
* 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
ChimerDB4HNSCTCGA-CV-6938-01AMBD5chr2

148779253

-ACVR2Achr2

148653870

+
ChimerDB4HNSCTCGA-CV-6938-01AMBD5chr2

148779253

+ACVR2Achr2

148653870

+


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Fusion Gene ORF analysis for MBD5-ACVR2A

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-intronENST00000407073ENST00000241416MBD5chr2

148779253

+ACVR2Achr2

148653870

+
5UTR-intronENST00000407073ENST00000404590MBD5chr2

148779253

+ACVR2Achr2

148653870

+
5UTR-intronENST00000407073ENST00000495775MBD5chr2

148779253

+ACVR2Achr2

148653870

+
5UTR-intronENST00000407073ENST00000535787MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000404807ENST00000241416MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000404807ENST00000404590MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000404807ENST00000495775MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000404807ENST00000535787MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000478804ENST00000241416MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000478804ENST00000404590MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000478804ENST00000495775MBD5chr2

148779253

+ACVR2Achr2

148653870

+
intron-intronENST00000478804ENST00000535787MBD5chr2

148779253

+ACVR2Achr2

148653870

+

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 MBD5-ACVR2A


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 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 MBD5-ACVR2A


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/:148779253/:148653870)
- 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
..
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: 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 MBD5-ACVR2A


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 MBD5-ACVR2A


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 MBD5-ACVR2A


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 MBD5-ACVR2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMBD5C1969562Mental Retardation, Autosomal Dominant 12CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMBD5C0004238Atrial Fibrillation1CTD_human
HgeneMBD5C0005586Bipolar Disorder1PSYGENET
HgeneMBD5C0235480Paroxysmal atrial fibrillation1CTD_human
HgeneMBD5C2585653Persistent atrial fibrillation1CTD_human
HgeneMBD5C3468561familial atrial fibrillation1CTD_human
HgeneMBD5C43045322q23.1 microdeletion syndrome1ORPHANET
TgeneC0920269Microsatellite Instability1CTD_human
TgeneC1721098Replication Error Phenotype1CTD_human