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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:ACVR2A-MBD5 (FusionGDB2 ID:HG92TG55777)

Fusion Gene Summary for ACVR2A-MBD5

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVR2A-MBD5
Fusion gene ID: hg92tg55777
HgeneTgene
Gene symbol

ACVR2A

MBD5

Gene ID

92

55777

Gene nameactivin A receptor type 2Amethyl-CpG binding domain protein 5
SynonymsACTRII|ACVR2MRD1
Cytomap('ACVR2A')('MBD5')

2q22.3-q23.1

2q23.1

Type of geneprotein-codingprotein-coding
Descriptionactivin receptor type-2Aactivin A receptor, type IIAmethyl-CpG-binding domain protein 5methyl-CpG-binding protein MBD5
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000241416, ENST00000404590, 
ENST00000535787, ENST00000495775, 
ENST00000241416, ENST00000404590, 
ENST00000495775, ENST00000535787, 
Fusion gene scores* DoF score8 X 7 X 7=39210 X 11 X 6=660
# samples 1011
** MAII scorelog2(10/392*10)=-1.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/660*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointACVR2A(148602776)-MBD5(149240678), # samples:1
ACVR2A(148602776)-MBD5(149240679), # samples:1
ACVR2A(148657467)-MBD5(148936269), # samples:1
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 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.
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
HgeneACVR2A

GO:0030509

BMP signaling pathway

18436533

HgeneACVR2A

GO:0032927

positive regulation of activin receptor signaling pathway

12665502

HgeneACVR2A

GO:0045648

positive regulation of erythrocyte differentiation

9032295


check buttonFusion gene breakpoints across ACVR2A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across MBD5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-DK-AA76ACVR2Achr2

148602776

+MBD5chr2

149240678

+
ChimerDB4BLCATCGA-DK-AA76ACVR2Achr2

148602776

+MBD5chr2

149240679

+
ChimerDB4BRCATCGA-AQ-A04H-01BACVR2Achr2

148657467

+MBD5chr2

148936269

+


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Fusion Gene ORF analysis for ACVR2A-MBD5

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
5CDS-3UTRENST00000241416ENST00000478804ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-3UTRENST00000404590ENST00000478804ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-3UTRENST00000535787ENST00000478804ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-5UTRENST00000241416ENST00000407073ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-5UTRENST00000404590ENST00000407073ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-5UTRENST00000535787ENST00000407073ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-intronENST00000241416ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240678

+
5CDS-intronENST00000241416ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240679

+
5CDS-intronENST00000241416ENST00000404807ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-intronENST00000241416ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240678

+
5CDS-intronENST00000241416ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240679

+
5CDS-intronENST00000404590ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240678

+
5CDS-intronENST00000404590ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240679

+
5CDS-intronENST00000404590ENST00000404807ACVR2Achr2

148657467

+MBD5chr2

148936269

+
5CDS-intronENST00000404590ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240678

+
5CDS-intronENST00000404590ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240679

+
5CDS-intronENST00000535787ENST00000404807ACVR2Achr2

148657467

+MBD5chr2

148936269

+
In-frameENST00000241416ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240678

+
In-frameENST00000241416ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240679

+
In-frameENST00000404590ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240678

+
In-frameENST00000404590ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240679

+
intron-3CDSENST00000495775ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240678

+
intron-3CDSENST00000495775ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240679

+
intron-3CDSENST00000535787ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240678

+
intron-3CDSENST00000535787ENST00000407073ACVR2Achr2

148602776

+MBD5chr2

149240679

+
intron-3UTRENST00000495775ENST00000478804ACVR2Achr2

148657467

+MBD5chr2

148936269

+
intron-5UTRENST00000495775ENST00000407073ACVR2Achr2

148657467

+MBD5chr2

148936269

+
intron-intronENST00000495775ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240678

+
intron-intronENST00000495775ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240679

+
intron-intronENST00000495775ENST00000404807ACVR2Achr2

148657467

+MBD5chr2

148936269

+
intron-intronENST00000495775ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240678

+
intron-intronENST00000495775ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240679

+
intron-intronENST00000535787ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240678

+
intron-intronENST00000535787ENST00000404807ACVR2Achr2

148602776

+MBD5chr2

149240679

+
intron-intronENST00000535787ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240678

+
intron-intronENST00000535787ENST00000478804ACVR2Achr2

148602776

+MBD5chr2

149240679

+

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)
ENST00000241416ACVR2Achr2148602776+ENST00000407073MBD5chr2149240678+31686916362657673
ENST00000404590ACVR2Achr2148602776+ENST00000407073MBD5chr2149240678+27022251702191673
ENST00000241416ACVR2Achr2148602776+ENST00000407073MBD5chr2149240679+31686916362657673
ENST00000404590ACVR2Achr2148602776+ENST00000407073MBD5chr2149240679+27022251702191673

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
ENST00000241416ENST00000407073ACVR2Achr2148602776+MBD5chr2149240678+0.0006950750.9993049
ENST00000404590ENST00000407073ACVR2Achr2148602776+MBD5chr2149240678+0.0010655270.99893445
ENST00000241416ENST00000407073ACVR2Achr2148602776+MBD5chr2149240679+0.0006950750.9993049
ENST00000404590ENST00000407073ACVR2Achr2148602776+MBD5chr2149240679+0.0010655270.99893445

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Fusion Genomic Features for ACVR2A-MBD5


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)
ACVR2Achr2148602776+MBD5chr2149240678+0.000658940.9993411
ACVR2Achr2148657467+MBD5chr2148936268+6.01E-101
ACVR2Achr2148602776+MBD5chr2149240678+0.000658940.9993411
ACVR2Achr2148657467+MBD5chr2148936268+6.01E-101

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.
genomic feature

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 ACVR2A-MBD5


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/chr2:148602776/chr2:149240678)
- 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
TgeneMBD5chr2:148602776chr2:149240678ENST00000407073815980_9848391495.0Compositional biasNote=Poly-Gln
TgeneMBD5chr2:148602776chr2:149240679ENST00000407073815980_9848391495.0Compositional biasNote=Poly-Gln
TgeneMBD5chr2:148602776chr2:149240678ENST000004070738151385_14478391495.0DomainPWWP
TgeneMBD5chr2:148602776chr2:149240679ENST000004070738151385_14478391495.0DomainPWWP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACVR2Achr2:148602776chr2:149240678ENST00000241416+111192_48518514.0DomainProtein kinase
HgeneACVR2Achr2:148602776chr2:149240678ENST00000404590+212192_48518514.0DomainProtein kinase
HgeneACVR2Achr2:148602776chr2:149240679ENST00000241416+111192_48518514.0DomainProtein kinase
HgeneACVR2Achr2:148602776chr2:149240679ENST00000404590+212192_48518514.0DomainProtein kinase
HgeneACVR2Achr2:148602776chr2:149240678ENST00000241416+111198_20618514.0Nucleotide bindingATP
HgeneACVR2Achr2:148602776chr2:149240678ENST00000404590+212198_20618514.0Nucleotide bindingATP
HgeneACVR2Achr2:148602776chr2:149240679ENST00000241416+111198_20618514.0Nucleotide bindingATP
HgeneACVR2Achr2:148602776chr2:149240679ENST00000404590+212198_20618514.0Nucleotide bindingATP
HgeneACVR2Achr2:148602776chr2:149240678ENST00000241416+111162_51318514.0Topological domainCytoplasmic
HgeneACVR2Achr2:148602776chr2:149240678ENST00000241416+11120_13518514.0Topological domainExtracellular
HgeneACVR2Achr2:148602776chr2:149240678ENST00000404590+212162_51318514.0Topological domainCytoplasmic
HgeneACVR2Achr2:148602776chr2:149240678ENST00000404590+21220_13518514.0Topological domainExtracellular
HgeneACVR2Achr2:148602776chr2:149240679ENST00000241416+111162_51318514.0Topological domainCytoplasmic
HgeneACVR2Achr2:148602776chr2:149240679ENST00000241416+11120_13518514.0Topological domainExtracellular
HgeneACVR2Achr2:148602776chr2:149240679ENST00000404590+212162_51318514.0Topological domainCytoplasmic
HgeneACVR2Achr2:148602776chr2:149240679ENST00000404590+21220_13518514.0Topological domainExtracellular
HgeneACVR2Achr2:148602776chr2:149240678ENST00000241416+111136_16118514.0TransmembraneHelical
HgeneACVR2Achr2:148602776chr2:149240678ENST00000404590+212136_16118514.0TransmembraneHelical
HgeneACVR2Achr2:148602776chr2:149240679ENST00000241416+111136_16118514.0TransmembraneHelical
HgeneACVR2Achr2:148602776chr2:149240679ENST00000404590+212136_16118514.0TransmembraneHelical
TgeneMBD5chr2:148602776chr2:149240678ENST00000407073815332_4148391495.0Compositional biasNote=Pro-rich
TgeneMBD5chr2:148602776chr2:149240678ENST00000407073815599_6058391495.0Compositional biasNote=Poly-Ser
TgeneMBD5chr2:148602776chr2:149240679ENST00000407073815332_4148391495.0Compositional biasNote=Pro-rich
TgeneMBD5chr2:148602776chr2:149240679ENST00000407073815599_6058391495.0Compositional biasNote=Poly-Ser
TgeneMBD5chr2:148602776chr2:149240678ENST0000040707381511_818391495.0DomainMBD
TgeneMBD5chr2:148602776chr2:149240679ENST0000040707381511_818391495.0DomainMBD


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Fusion Gene Sequence for ACVR2A-MBD5


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.
>1909_1909_1_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000241416_MBD5_chr2_149240678_ENST00000407073_length(transcript)=3168nt_BP=691nt
AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG
CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC
TGGGTTGAAGGTCGGTCCGGACATCGGACCCAGTCAGTTCCCAGACTGTCCGGGCGGCAGCGGACGCCGCTGCCGCCGCCGCCTCTTCGT
CGCCTCAGCCTGGCGTTTTGTTCCGAGAGACGGGAGAGGCGAGCGGAGCTGACAGTGATTTTGACAGTGATTTAAACCCGCTTTTGTTGT
TGTTGGCTTTTCGTTGTTTGGTTTTGTGTGTTGTGCGTGTGTGTGGCGGTTTTTCCCCCGTGGTGCATTTTATTTTTTATCGTTGTGCTC
TTTTTTTTCTTTTTTTTTTTTAACCCAGTGAGCGTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGGGCTTCCGAATATGTTTTATGAC
GGTTGATTTTACACCAGGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTC
GGGAAAATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGCGGTTCAGGACCATCATCCTCCATAGCC
ATAGCGGGCACCAACCACCCTGCCATCACAAAGACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTG
CAGAGTCAGCTACCCATTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTTCCATCCAACAGCACTTCAAACAACCAT
CTTCCACACCCCTTGAACCCCAGCCTCCTCAGTTCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTA
AATATCCTCCAGCCTTCAGCAGGAGAAGGTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTG
TTAAACAACAATCAGATGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCC
ACAATTCCTTGCCCAGCTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAGGTGAGAATGCAGGAAGATGCAGCTCTCCTAAAC
AAAAGAATAAGCACTCAGCCTGGGCTCACAGCACTTCCTGAGAATCCAAACACTACACTTCCACCTTTTCAAGATACACCTTGTGAGTTG
CAACCGAGGATTGACCCATCTCTTGGTCAACAGGTGAAGGATGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATGCCATTTAC
AAAGCAGTTGTCGATGCAGCCAGCAAAGGAATGCAGGTTGTCATCACCACTGCAGTCAACAGTACAACTCAGATCAGCCCCATTCCAGCT
CTGAGTGCCATGAGTGCCTTCACTGCCTCAATTGGTGACCCATTAAATCTCTCCAGTGCTGTCAGTGCGGTCATTCATGGACGGAACATG
GGAGGTGTTGATCATGATGGTAGGCTGAGGAATTCAAGAGGGGCTCGGCTGCCCAAGAATCTAGACCATGGGAAAAATGTGAACGAAGGA
GATGGGTTTGAATATTTCAAGTCAGCAAGTTGCCACACATCCAAAAAACAGTGGGACGGGGAGCAAAGCCCCAGAGGGGAGCGAAACAGG
TGGAAGTACGAGGAATTTTTAGATCATCCAGGCCATATCCACAGTAGTCCTTGTCATGAAAGGCCCAACAATGTCTCTACACTGCCATTT
CTGCCTGGGGAACAGCACCCAATACTGTTACCACCAAGAAACTGTCCAGGGGATAAAATTCTAGAGGAAAATTTCAGGTATAATAACTAC
AAAAGAACTATGATGAGTTTTAAGGAGAGACTAGAGAACACTGTGGAAAGATGTGCACACATAAATGGGAATAGACCTCGACAGAGTCGG
GGATTTGGAGAGCTGCTAAGCACTGCAAAGCAAGACCTGGTCCTAGAGGAGCAGTCTCCAAGTTCCTCAAATAGTTTGGAAAATTCTCTG
GTCAAAGACTACATCCATTACAATGGAGACTTTAATGCCAAAAGCGTTAATGGGTGTGTGCCTAGCCCTTCAGATGCTAAAAGCATTAGT
AGTGAAGATGACCTAAGGAACCCAGACTCCCCCTCTTCAAATGAATTGATACATTATAGACCAAGGACGTTCAATGTTGGCGACTTGGTC
TGGGGCCAAATCAAAGGACTGACTTCCTGGCCTGGAAAATTAGTAAGAGAAGACGACGTTCACAATTCATGTCAACAAAGCCCCGAGGAA
GGGAAGGTGGAGCCCGAGAAGTTGAAGACACTAACAGAAGGTTTGGAAGCCTACAGCCGTGTCCGGAAAAGGAACAGAAAAAGTGGAAAG
CTAAATAACCATTTAGAAGCTGCTATTCATGAGGCCATGAGTGAACTGGACAAAATGTCTGGGACTGTACACCAAATCCCACAGGGTGAC
AGACAAATGAGACCCCCCAAACCCAAGAGGAGGAAGATCTCCAGATAACAGAGACTACTCCACTAATGCGCAGTGTTTATTAAAGGAACA
TGCACAGATGTATCTGTATATAGGTATTGATATAGCCACAGTTATATCAATATTTAGACTATGGCAGATAGCTACCACCACCACAGGGTG
CTAAAAGAAACAGTGATACAAAATTTTTTTGATCAGGAAGGATAATGAATGCTGGAAAAGCCAATCAAAGTCTCTGTGTGATGAGAGTGA
TCAATGGTCAAGAGATTACTGAGAAACTCTTTTTCTATAATACTAAATTGTGATTATAAGAAATAGTCCAAATGTTTCTGAAGAATTTTC
AATGTTGTATATAGAAAATACAGAATTTCATGGTGATATCAGAAATGTAAATATTGTACAGTATTGTCATGTACAAGCGTACCTAATGCA
CACTTTATCTTTTATTGTACAAAGAAATAGTGTACAAAATTCTTTGGTTTCTATGGAGTACACCTACCAGAGACTACCAGTGTAAAGTGA

>1909_1909_1_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000241416_MBD5_chr2_149240678_ENST00000407073_length(amino acids)=673AA_BP=18
MGAAAKLAFAVFLISCSSGGSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHFPSNSTSNNHLP
HPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSNHQLTHLQSLLNNNQMFPPNQQQQQLLQGYQNLQAFQGQSTI
PCPANNNPMACLFQNFQVRMQEDAALLNKRISTQPGLTALPENPNTTLPPFQDTPCELQPRIDPSLGQQVKDGLVVGGPGDASVDAIYKA
VVDAASKGMQVVITTAVNSTTQISPIPALSAMSAFTASIGDPLNLSSAVSAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDG
FEYFKSASCHTSKKQWDGEQSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKILEENFRYNNYKR
TMMSFKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPSSSNSLENSLVKDYIHYNGDFNAKSVNGCVPSPSDAKSISSE
DDLRNPDSPSSNELIHYRPRTFNVGDLVWGQIKGLTSWPGKLVREDDVHNSCQQSPEEGKVEPEKLKTLTEGLEAYSRVRKRNRKSGKLN

--------------------------------------------------------------
>1909_1909_2_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000241416_MBD5_chr2_149240679_ENST00000407073_length(transcript)=3168nt_BP=691nt
AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG
CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC
TGGGTTGAAGGTCGGTCCGGACATCGGACCCAGTCAGTTCCCAGACTGTCCGGGCGGCAGCGGACGCCGCTGCCGCCGCCGCCTCTTCGT
CGCCTCAGCCTGGCGTTTTGTTCCGAGAGACGGGAGAGGCGAGCGGAGCTGACAGTGATTTTGACAGTGATTTAAACCCGCTTTTGTTGT
TGTTGGCTTTTCGTTGTTTGGTTTTGTGTGTTGTGCGTGTGTGTGGCGGTTTTTCCCCCGTGGTGCATTTTATTTTTTATCGTTGTGCTC
TTTTTTTTCTTTTTTTTTTTTAACCCAGTGAGCGTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGGGCTTCCGAATATGTTTTATGAC
GGTTGATTTTACACCAGGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTC
GGGAAAATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGCGGTTCAGGACCATCATCCTCCATAGCC
ATAGCGGGCACCAACCACCCTGCCATCACAAAGACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTG
CAGAGTCAGCTACCCATTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTTCCATCCAACAGCACTTCAAACAACCAT
CTTCCACACCCCTTGAACCCCAGCCTCCTCAGTTCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTA
AATATCCTCCAGCCTTCAGCAGGAGAAGGTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTG
TTAAACAACAATCAGATGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCC
ACAATTCCTTGCCCAGCTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAGGTGAGAATGCAGGAAGATGCAGCTCTCCTAAAC
AAAAGAATAAGCACTCAGCCTGGGCTCACAGCACTTCCTGAGAATCCAAACACTACACTTCCACCTTTTCAAGATACACCTTGTGAGTTG
CAACCGAGGATTGACCCATCTCTTGGTCAACAGGTGAAGGATGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATGCCATTTAC
AAAGCAGTTGTCGATGCAGCCAGCAAAGGAATGCAGGTTGTCATCACCACTGCAGTCAACAGTACAACTCAGATCAGCCCCATTCCAGCT
CTGAGTGCCATGAGTGCCTTCACTGCCTCAATTGGTGACCCATTAAATCTCTCCAGTGCTGTCAGTGCGGTCATTCATGGACGGAACATG
GGAGGTGTTGATCATGATGGTAGGCTGAGGAATTCAAGAGGGGCTCGGCTGCCCAAGAATCTAGACCATGGGAAAAATGTGAACGAAGGA
GATGGGTTTGAATATTTCAAGTCAGCAAGTTGCCACACATCCAAAAAACAGTGGGACGGGGAGCAAAGCCCCAGAGGGGAGCGAAACAGG
TGGAAGTACGAGGAATTTTTAGATCATCCAGGCCATATCCACAGTAGTCCTTGTCATGAAAGGCCCAACAATGTCTCTACACTGCCATTT
CTGCCTGGGGAACAGCACCCAATACTGTTACCACCAAGAAACTGTCCAGGGGATAAAATTCTAGAGGAAAATTTCAGGTATAATAACTAC
AAAAGAACTATGATGAGTTTTAAGGAGAGACTAGAGAACACTGTGGAAAGATGTGCACACATAAATGGGAATAGACCTCGACAGAGTCGG
GGATTTGGAGAGCTGCTAAGCACTGCAAAGCAAGACCTGGTCCTAGAGGAGCAGTCTCCAAGTTCCTCAAATAGTTTGGAAAATTCTCTG
GTCAAAGACTACATCCATTACAATGGAGACTTTAATGCCAAAAGCGTTAATGGGTGTGTGCCTAGCCCTTCAGATGCTAAAAGCATTAGT
AGTGAAGATGACCTAAGGAACCCAGACTCCCCCTCTTCAAATGAATTGATACATTATAGACCAAGGACGTTCAATGTTGGCGACTTGGTC
TGGGGCCAAATCAAAGGACTGACTTCCTGGCCTGGAAAATTAGTAAGAGAAGACGACGTTCACAATTCATGTCAACAAAGCCCCGAGGAA
GGGAAGGTGGAGCCCGAGAAGTTGAAGACACTAACAGAAGGTTTGGAAGCCTACAGCCGTGTCCGGAAAAGGAACAGAAAAAGTGGAAAG
CTAAATAACCATTTAGAAGCTGCTATTCATGAGGCCATGAGTGAACTGGACAAAATGTCTGGGACTGTACACCAAATCCCACAGGGTGAC
AGACAAATGAGACCCCCCAAACCCAAGAGGAGGAAGATCTCCAGATAACAGAGACTACTCCACTAATGCGCAGTGTTTATTAAAGGAACA
TGCACAGATGTATCTGTATATAGGTATTGATATAGCCACAGTTATATCAATATTTAGACTATGGCAGATAGCTACCACCACCACAGGGTG
CTAAAAGAAACAGTGATACAAAATTTTTTTGATCAGGAAGGATAATGAATGCTGGAAAAGCCAATCAAAGTCTCTGTGTGATGAGAGTGA
TCAATGGTCAAGAGATTACTGAGAAACTCTTTTTCTATAATACTAAATTGTGATTATAAGAAATAGTCCAAATGTTTCTGAAGAATTTTC
AATGTTGTATATAGAAAATACAGAATTTCATGGTGATATCAGAAATGTAAATATTGTACAGTATTGTCATGTACAAGCGTACCTAATGCA
CACTTTATCTTTTATTGTACAAAGAAATAGTGTACAAAATTCTTTGGTTTCTATGGAGTACACCTACCAGAGACTACCAGTGTAAAGTGA

>1909_1909_2_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000241416_MBD5_chr2_149240679_ENST00000407073_length(amino acids)=673AA_BP=18
MGAAAKLAFAVFLISCSSGGSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHFPSNSTSNNHLP
HPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSNHQLTHLQSLLNNNQMFPPNQQQQQLLQGYQNLQAFQGQSTI
PCPANNNPMACLFQNFQVRMQEDAALLNKRISTQPGLTALPENPNTTLPPFQDTPCELQPRIDPSLGQQVKDGLVVGGPGDASVDAIYKA
VVDAASKGMQVVITTAVNSTTQISPIPALSAMSAFTASIGDPLNLSSAVSAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDG
FEYFKSASCHTSKKQWDGEQSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKILEENFRYNNYKR
TMMSFKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPSSSNSLENSLVKDYIHYNGDFNAKSVNGCVPSPSDAKSISSE
DDLRNPDSPSSNELIHYRPRTFNVGDLVWGQIKGLTSWPGKLVREDDVHNSCQQSPEEGKVEPEKLKTLTEGLEAYSRVRKRNRKSGKLN

--------------------------------------------------------------
>1909_1909_3_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000404590_MBD5_chr2_149240678_ENST00000407073_length(transcript)=2702nt_BP=225nt
GCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTCTGGGTTGAA
GGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTCGGGAAAATGGGAGCTG
CTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGCGGTTCAGGACCATCATCCTCCATAGCCATAGCGGGCACCAACC
ACCCTGCCATCACAAAGACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCA
TTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTTCCATCCAACAGCACTTCAAACAACCATCTTCCACACCCCTTGA
ACCCCAGCCTCCTCAGTTCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTAAATATCCTCCAGCCTT
CAGCAGGAGAAGGTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTGTTAAACAACAATCAGA
TGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCCACAATTCCTTGCCCAG
CTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAGGTGAGAATGCAGGAAGATGCAGCTCTCCTAAACAAAAGAATAAGCACTC
AGCCTGGGCTCACAGCACTTCCTGAGAATCCAAACACTACACTTCCACCTTTTCAAGATACACCTTGTGAGTTGCAACCGAGGATTGACC
CATCTCTTGGTCAACAGGTGAAGGATGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATGCCATTTACAAAGCAGTTGTCGATG
CAGCCAGCAAAGGAATGCAGGTTGTCATCACCACTGCAGTCAACAGTACAACTCAGATCAGCCCCATTCCAGCTCTGAGTGCCATGAGTG
CCTTCACTGCCTCAATTGGTGACCCATTAAATCTCTCCAGTGCTGTCAGTGCGGTCATTCATGGACGGAACATGGGAGGTGTTGATCATG
ATGGTAGGCTGAGGAATTCAAGAGGGGCTCGGCTGCCCAAGAATCTAGACCATGGGAAAAATGTGAACGAAGGAGATGGGTTTGAATATT
TCAAGTCAGCAAGTTGCCACACATCCAAAAAACAGTGGGACGGGGAGCAAAGCCCCAGAGGGGAGCGAAACAGGTGGAAGTACGAGGAAT
TTTTAGATCATCCAGGCCATATCCACAGTAGTCCTTGTCATGAAAGGCCCAACAATGTCTCTACACTGCCATTTCTGCCTGGGGAACAGC
ACCCAATACTGTTACCACCAAGAAACTGTCCAGGGGATAAAATTCTAGAGGAAAATTTCAGGTATAATAACTACAAAAGAACTATGATGA
GTTTTAAGGAGAGACTAGAGAACACTGTGGAAAGATGTGCACACATAAATGGGAATAGACCTCGACAGAGTCGGGGATTTGGAGAGCTGC
TAAGCACTGCAAAGCAAGACCTGGTCCTAGAGGAGCAGTCTCCAAGTTCCTCAAATAGTTTGGAAAATTCTCTGGTCAAAGACTACATCC
ATTACAATGGAGACTTTAATGCCAAAAGCGTTAATGGGTGTGTGCCTAGCCCTTCAGATGCTAAAAGCATTAGTAGTGAAGATGACCTAA
GGAACCCAGACTCCCCCTCTTCAAATGAATTGATACATTATAGACCAAGGACGTTCAATGTTGGCGACTTGGTCTGGGGCCAAATCAAAG
GACTGACTTCCTGGCCTGGAAAATTAGTAAGAGAAGACGACGTTCACAATTCATGTCAACAAAGCCCCGAGGAAGGGAAGGTGGAGCCCG
AGAAGTTGAAGACACTAACAGAAGGTTTGGAAGCCTACAGCCGTGTCCGGAAAAGGAACAGAAAAAGTGGAAAGCTAAATAACCATTTAG
AAGCTGCTATTCATGAGGCCATGAGTGAACTGGACAAAATGTCTGGGACTGTACACCAAATCCCACAGGGTGACAGACAAATGAGACCCC
CCAAACCCAAGAGGAGGAAGATCTCCAGATAACAGAGACTACTCCACTAATGCGCAGTGTTTATTAAAGGAACATGCACAGATGTATCTG
TATATAGGTATTGATATAGCCACAGTTATATCAATATTTAGACTATGGCAGATAGCTACCACCACCACAGGGTGCTAAAAGAAACAGTGA
TACAAAATTTTTTTGATCAGGAAGGATAATGAATGCTGGAAAAGCCAATCAAAGTCTCTGTGTGATGAGAGTGATCAATGGTCAAGAGAT
TACTGAGAAACTCTTTTTCTATAATACTAAATTGTGATTATAAGAAATAGTCCAAATGTTTCTGAAGAATTTTCAATGTTGTATATAGAA
AATACAGAATTTCATGGTGATATCAGAAATGTAAATATTGTACAGTATTGTCATGTACAAGCGTACCTAATGCACACTTTATCTTTTATT
GTACAAAGAAATAGTGTACAAAATTCTTTGGTTTCTATGGAGTACACCTACCAGAGACTACCAGTGTAAAGTGATAAATAAAAATACAAC

>1909_1909_3_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000404590_MBD5_chr2_149240678_ENST00000407073_length(amino acids)=673AA_BP=18
MGAAAKLAFAVFLISCSSGGSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHFPSNSTSNNHLP
HPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSNHQLTHLQSLLNNNQMFPPNQQQQQLLQGYQNLQAFQGQSTI
PCPANNNPMACLFQNFQVRMQEDAALLNKRISTQPGLTALPENPNTTLPPFQDTPCELQPRIDPSLGQQVKDGLVVGGPGDASVDAIYKA
VVDAASKGMQVVITTAVNSTTQISPIPALSAMSAFTASIGDPLNLSSAVSAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDG
FEYFKSASCHTSKKQWDGEQSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKILEENFRYNNYKR
TMMSFKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPSSSNSLENSLVKDYIHYNGDFNAKSVNGCVPSPSDAKSISSE
DDLRNPDSPSSNELIHYRPRTFNVGDLVWGQIKGLTSWPGKLVREDDVHNSCQQSPEEGKVEPEKLKTLTEGLEAYSRVRKRNRKSGKLN

--------------------------------------------------------------
>1909_1909_4_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000404590_MBD5_chr2_149240679_ENST00000407073_length(transcript)=2702nt_BP=225nt
GCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTCTGGGTTGAA
GGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTCGGGAAAATGGGAGCTG
CTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGCGGTTCAGGACCATCATCCTCCATAGCCATAGCGGGCACCAACC
ACCCTGCCATCACAAAGACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCA
TTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTTCCATCCAACAGCACTTCAAACAACCATCTTCCACACCCCTTGA
ACCCCAGCCTCCTCAGTTCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTAAATATCCTCCAGCCTT
CAGCAGGAGAAGGTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTGTTAAACAACAATCAGA
TGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCCACAATTCCTTGCCCAG
CTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAGGTGAGAATGCAGGAAGATGCAGCTCTCCTAAACAAAAGAATAAGCACTC
AGCCTGGGCTCACAGCACTTCCTGAGAATCCAAACACTACACTTCCACCTTTTCAAGATACACCTTGTGAGTTGCAACCGAGGATTGACC
CATCTCTTGGTCAACAGGTGAAGGATGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATGCCATTTACAAAGCAGTTGTCGATG
CAGCCAGCAAAGGAATGCAGGTTGTCATCACCACTGCAGTCAACAGTACAACTCAGATCAGCCCCATTCCAGCTCTGAGTGCCATGAGTG
CCTTCACTGCCTCAATTGGTGACCCATTAAATCTCTCCAGTGCTGTCAGTGCGGTCATTCATGGACGGAACATGGGAGGTGTTGATCATG
ATGGTAGGCTGAGGAATTCAAGAGGGGCTCGGCTGCCCAAGAATCTAGACCATGGGAAAAATGTGAACGAAGGAGATGGGTTTGAATATT
TCAAGTCAGCAAGTTGCCACACATCCAAAAAACAGTGGGACGGGGAGCAAAGCCCCAGAGGGGAGCGAAACAGGTGGAAGTACGAGGAAT
TTTTAGATCATCCAGGCCATATCCACAGTAGTCCTTGTCATGAAAGGCCCAACAATGTCTCTACACTGCCATTTCTGCCTGGGGAACAGC
ACCCAATACTGTTACCACCAAGAAACTGTCCAGGGGATAAAATTCTAGAGGAAAATTTCAGGTATAATAACTACAAAAGAACTATGATGA
GTTTTAAGGAGAGACTAGAGAACACTGTGGAAAGATGTGCACACATAAATGGGAATAGACCTCGACAGAGTCGGGGATTTGGAGAGCTGC
TAAGCACTGCAAAGCAAGACCTGGTCCTAGAGGAGCAGTCTCCAAGTTCCTCAAATAGTTTGGAAAATTCTCTGGTCAAAGACTACATCC
ATTACAATGGAGACTTTAATGCCAAAAGCGTTAATGGGTGTGTGCCTAGCCCTTCAGATGCTAAAAGCATTAGTAGTGAAGATGACCTAA
GGAACCCAGACTCCCCCTCTTCAAATGAATTGATACATTATAGACCAAGGACGTTCAATGTTGGCGACTTGGTCTGGGGCCAAATCAAAG
GACTGACTTCCTGGCCTGGAAAATTAGTAAGAGAAGACGACGTTCACAATTCATGTCAACAAAGCCCCGAGGAAGGGAAGGTGGAGCCCG
AGAAGTTGAAGACACTAACAGAAGGTTTGGAAGCCTACAGCCGTGTCCGGAAAAGGAACAGAAAAAGTGGAAAGCTAAATAACCATTTAG
AAGCTGCTATTCATGAGGCCATGAGTGAACTGGACAAAATGTCTGGGACTGTACACCAAATCCCACAGGGTGACAGACAAATGAGACCCC
CCAAACCCAAGAGGAGGAAGATCTCCAGATAACAGAGACTACTCCACTAATGCGCAGTGTTTATTAAAGGAACATGCACAGATGTATCTG
TATATAGGTATTGATATAGCCACAGTTATATCAATATTTAGACTATGGCAGATAGCTACCACCACCACAGGGTGCTAAAAGAAACAGTGA
TACAAAATTTTTTTGATCAGGAAGGATAATGAATGCTGGAAAAGCCAATCAAAGTCTCTGTGTGATGAGAGTGATCAATGGTCAAGAGAT
TACTGAGAAACTCTTTTTCTATAATACTAAATTGTGATTATAAGAAATAGTCCAAATGTTTCTGAAGAATTTTCAATGTTGTATATAGAA
AATACAGAATTTCATGGTGATATCAGAAATGTAAATATTGTACAGTATTGTCATGTACAAGCGTACCTAATGCACACTTTATCTTTTATT
GTACAAAGAAATAGTGTACAAAATTCTTTGGTTTCTATGGAGTACACCTACCAGAGACTACCAGTGTAAAGTGATAAATAAAAATACAAC

>1909_1909_4_ACVR2A-MBD5_ACVR2A_chr2_148602776_ENST00000404590_MBD5_chr2_149240679_ENST00000407073_length(amino acids)=673AA_BP=18
MGAAAKLAFAVFLISCSSGGSGPSSSIAIAGTNHPAITKTTSVLQDGVIVTTAAGNPLQSQLPIGSDFPFVGQEHALHFPSNSTSNNHLP
HPLNPSLLSSLPISLPVNQQHLLNQNLLNILQPSAGEGDMSSINNTLSNHQLTHLQSLLNNNQMFPPNQQQQQLLQGYQNLQAFQGQSTI
PCPANNNPMACLFQNFQVRMQEDAALLNKRISTQPGLTALPENPNTTLPPFQDTPCELQPRIDPSLGQQVKDGLVVGGPGDASVDAIYKA
VVDAASKGMQVVITTAVNSTTQISPIPALSAMSAFTASIGDPLNLSSAVSAVIHGRNMGGVDHDGRLRNSRGARLPKNLDHGKNVNEGDG
FEYFKSASCHTSKKQWDGEQSPRGERNRWKYEEFLDHPGHIHSSPCHERPNNVSTLPFLPGEQHPILLPPRNCPGDKILEENFRYNNYKR
TMMSFKERLENTVERCAHINGNRPRQSRGFGELLSTAKQDLVLEEQSPSSSNSLENSLVKDYIHYNGDFNAKSVNGCVPSPSDAKSISSE
DDLRNPDSPSSNELIHYRPRTFNVGDLVWGQIKGLTSWPGKLVREDDVHNSCQQSPEEGKVEPEKLKTLTEGLEAYSRVRKRNRKSGKLN

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ACVR2A-MBD5


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 ACVR2A-MBD5


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 ACVR2A-MBD5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACVR2AC0920269Microsatellite Instability1CTD_human
HgeneACVR2AC1721098Replication Error Phenotype1CTD_human
TgeneC1969562Mental Retardation, Autosomal Dominant 12CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human
TgeneC43045322q23.1 microdeletion syndrome1ORPHANET