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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-SUMO1 (FusionGDB2 ID:HG92TG7341)

Fusion Gene Summary for ACVR2A-SUMO1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVR2A-SUMO1
Fusion gene ID: hg92tg7341
HgeneTgene
Gene symbol

ACVR2A

SUMO1

Gene ID

92

7341

Gene nameactivin A receptor type 2Asmall ubiquitin like modifier 1
SynonymsACTRII|ACVR2DAP1|GMP1|OFC10|PIC1|SENP2|SMT3|SMT3C|SMT3H3|UBL1
Cytomap('ACVR2A')('SUMO1')

2q22.3-q23.1

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionactivin receptor type-2Aactivin A receptor, type IIAsmall ubiquitin-related modifier 1GAP modifying protein 1SMT3 homolog 3SMT3 suppressor of mif two 3 homolog 1sentrinubiquitin-homology domain protein PIC1ubiquitin-like protein SMT3Cubiquitin-like protein UBL1
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000241416, ENST00000404590, 
ENST00000535787, ENST00000495775, 
Fusion gene scores* DoF score8 X 7 X 7=3924 X 3 X 2=24
# samples 104
** MAII scorelog2(10/392*10)=-1.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACVR2A [Title/Abstract] AND SUMO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACVR2A(148680680)-SUMO1(203072044), # samples:4
Anticipated loss of major functional domain due to fusion event.ACVR2A-SUMO1 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-SUMO1 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-SUMO1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ACVR2A-SUMO1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACVR2A-SUMO1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
ACVR2A-SUMO1 seems lost the major protein functional domain in Tgene 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
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

TgeneSUMO1

GO:0016925

protein sumoylation

11889051|14752048|15572661|15637059|15959518|17696781|19223394|21965678|24651376

TgeneSUMO1

GO:0031334

positive regulation of protein complex assembly

18579533

TgeneSUMO1

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

18408734

TgeneSUMO1

GO:0034605

cellular response to heat

11514557

TgeneSUMO1

GO:0043392

negative regulation of DNA binding

16626738

TgeneSUMO1

GO:0045759

negative regulation of action potential

19223394

TgeneSUMO1

GO:0045892

negative regulation of transcription, DNA-templated

15572661

TgeneSUMO1

GO:0050821

protein stabilization

21968017

TgeneSUMO1

GO:0071276

cellular response to cadmium ion

11514557

TgeneSUMO1

GO:1902260

negative regulation of delayed rectifier potassium channel activity

19223394


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 SUMO1 (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
ChimerDB4SARCTCGA-FX-A2QS-01AACVR2Achr2

148680680

-SUMO1chr2

203072044

-
ChimerDB4SARCTCGA-FX-A2QS-01AACVR2Achr2

148680680

+SUMO1chr2

203072044

-
ChimerDB4SARCTCGA-FX-A2QSACVR2Achr2

148680680

+SUMO1chr2

203072044

-


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Fusion Gene ORF analysis for ACVR2A-SUMO1

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-3UTRENST00000241416ENST00000409181ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000241416ENST00000409205ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000241416ENST00000409498ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000404590ENST00000409181ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000404590ENST00000409205ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000404590ENST00000409498ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000535787ENST00000409181ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000535787ENST00000409205ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-3UTRENST00000535787ENST00000409498ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-5UTRENST00000241416ENST00000469034ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-5UTRENST00000404590ENST00000469034ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
5CDS-5UTRENST00000535787ENST00000469034ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000241416ENST00000392244ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000241416ENST00000392246ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000241416ENST00000409368ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000241416ENST00000409712ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000404590ENST00000392244ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000404590ENST00000392246ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000404590ENST00000409368ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000404590ENST00000409712ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000535787ENST00000392244ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000535787ENST00000392246ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000535787ENST00000409368ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
Frame-shiftENST00000535787ENST00000409712ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
In-frameENST00000241416ENST00000392245ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
In-frameENST00000404590ENST00000392245ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
In-frameENST00000535787ENST00000392245ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3CDSENST00000495775ENST00000392244ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3CDSENST00000495775ENST00000392245ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3CDSENST00000495775ENST00000392246ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3CDSENST00000495775ENST00000409368ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3CDSENST00000495775ENST00000409712ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3UTRENST00000495775ENST00000409181ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3UTRENST00000495775ENST00000409205ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-3UTRENST00000495775ENST00000409498ACVR2Achr2

148680680

+SUMO1chr2

203072044

-
intron-5UTRENST00000495775ENST00000469034ACVR2Achr2

148680680

+SUMO1chr2

203072044

-

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)
ENST00000535787ACVR2Achr2148680680+ENST00000392245SUMO1chr2203072044-19741288901316408
ENST00000241416ACVR2Achr2148680680+ENST00000392245SUMO1chr2203072044-253818526361880414
ENST00000404590ACVR2Achr2148680680+ENST00000392245SUMO1chr2203072044-207213861701414414

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
ENST00000535787ENST00000392245ACVR2Achr2148680680+SUMO1chr2203072044-0.0002595330.9997404
ENST00000241416ENST00000392245ACVR2Achr2148680680+SUMO1chr2203072044-8.03E-050.9999198
ENST00000404590ENST00000392245ACVR2Achr2148680680+SUMO1chr2203072044-0.0001191310.9998809

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Fusion Genomic Features for ACVR2A-SUMO1


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.
genomic feature

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Fusion Protein Features for ACVR2A-SUMO1


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/chr2:148680680/chr2:203072044)
- 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
HgeneACVR2Achr2:148680680chr2:203072044ENST00000241416+911198_206405514.0Nucleotide bindingATP
HgeneACVR2Achr2:148680680chr2:203072044ENST00000404590+1012198_206405514.0Nucleotide bindingATP
HgeneACVR2Achr2:148680680chr2:203072044ENST00000241416+91120_135405514.0Topological domainExtracellular
HgeneACVR2Achr2:148680680chr2:203072044ENST00000404590+101220_135405514.0Topological domainExtracellular
HgeneACVR2Achr2:148680680chr2:203072044ENST00000241416+911136_161405514.0TransmembraneHelical
HgeneACVR2Achr2:148680680chr2:203072044ENST00000404590+1012136_161405514.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACVR2Achr2:148680680chr2:203072044ENST00000241416+911192_485405514.0DomainProtein kinase
HgeneACVR2Achr2:148680680chr2:203072044ENST00000404590+1012192_485405514.0DomainProtein kinase
HgeneACVR2Achr2:148680680chr2:203072044ENST00000241416+911162_513405514.0Topological domainCytoplasmic
HgeneACVR2Achr2:148680680chr2:203072044ENST00000404590+1012162_513405514.0Topological domainCytoplasmic
TgeneSUMO1chr2:148680680chr2:203072044ENST000003922442420_975477.0DomainUbiquitin-like
TgeneSUMO1chr2:148680680chr2:203072044ENST000003922453620_9779252.33333333333334DomainUbiquitin-like
TgeneSUMO1chr2:148680680chr2:203072044ENST000003922463520_9779102.0DomainUbiquitin-like


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Fusion Gene Sequence for ACVR2A-SUMO1


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.
>1911_1911_1_ACVR2A-SUMO1_ACVR2A_chr2_148680680_ENST00000241416_SUMO1_chr2_203072044_ENST00000392245_length(transcript)=2538nt_BP=1852nt
AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG
CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC
TGGGTTGAAGGTCGGTCCGGACATCGGACCCAGTCAGTTCCCAGACTGTCCGGGCGGCAGCGGACGCCGCTGCCGCCGCCGCCTCTTCGT
CGCCTCAGCCTGGCGTTTTGTTCCGAGAGACGGGAGAGGCGAGCGGAGCTGACAGTGATTTTGACAGTGATTTAAACCCGCTTTTGTTGT
TGTTGGCTTTTCGTTGTTTGGTTTTGTGTGTTGTGCGTGTGTGTGGCGGTTTTTCCCCCGTGGTGCATTTTATTTTTTATCGTTGTGCTC
TTTTTTTTCTTTTTTTTTTTTAACCCAGTGAGCGTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGGGCTTCCGAATATGTTTTATGAC
GGTTGATTTTACACCAGGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTC
GGGAAAATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAG
GAGTGTCTTTTCTTTAATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGG
CATTGTTTTGCTACCTGGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGG
ACTGATTGTGTAGAAAAAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCG
GAGATGGAAGTCACACAGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATG
TTAATTGCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCA
GGACCACCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAA
GCCCAGTTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTG
CCTGGAATGAAGCATGAGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCA
TTTCATGAAAAGGGTTCACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGA
GGATTGGCATATTTACATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTG
CTGTTGAAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGA
CAGGTTGGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTAT
GCCATGGGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCA
GGAACAAACGGGGGGTCATTCAACAGTTTAGTTTTAAAATTTGAGGGTCTGGACCAAAAGAAGAGGAATATCAGGTTGAAGTCAAGATGA
CAGATAAGGTGAGAGTAATGACTAACTCCAAAGATGGCTTCACTGAAGAAAAGGCATTTTAAGATTTTTTAAAAATCTTGTCAGAAGATC
CCAGAAAAGTTCTAATTTTCATTAGCAATTAATAAAGCTATACATGCAGAAATGAATACAACAGAACACTGCTCTTTTTGATTTTATTTG
TACTTTTTGGCCTGGGATATGGGTTTTAAATGGACATTGTCTGTACCAGCTTCATTAAAATAAACAATATTTGTAAAAATCATACTAATG
CTTATTTTATTTTAATTGTATAGAAAGAAAAAAATGCCTAAAATAAGGTTTTCTTGCATAAATACTGGAAATTGCACATGGTACAAATTT
TTTCTTCATTACTGTACAGTGATGATGTTAATGACTTTGAAGCACTGAAAGTTACTGAAGTGCCTTCTGAATCAAGGATTTAATTAAGGC
CACAATACCTTTTTAATACTCAGTGTTCTGTTTTTTTAAAAACTTGATATTCCTGTATGGTGCATATATGATACAGTTACCTAATCATGT

>1911_1911_1_ACVR2A-SUMO1_ACVR2A_chr2_148680680_ENST00000241416_SUMO1_chr2_203072044_ENST00000392245_length(amino acids)=414AA_BP=
MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTD
CVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGP
PPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFH
EKGSLSDFLKANVVSWNELCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQV

--------------------------------------------------------------
>1911_1911_2_ACVR2A-SUMO1_ACVR2A_chr2_148680680_ENST00000404590_SUMO1_chr2_203072044_ENST00000392245_length(transcript)=2072nt_BP=1386nt
GCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTCTGGGTTGAA
GGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTCGGGAAAATGGGAGCTG
CTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAGGAGTGTCTTTTCTTTA
ATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCT
GGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGATTGTGTAGAAA
AAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACAC
AGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTG
TCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCACCCCCACCTT
CTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACG
AATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATG
AGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAGGGTT
CACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTGGCATATTTAC
ATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACC
TGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAGGTTGGTACCCGGA
GGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCC
TATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCAGGAACAAACGGGGGGT
CATTCAACAGTTTAGTTTTAAAATTTGAGGGTCTGGACCAAAAGAAGAGGAATATCAGGTTGAAGTCAAGATGACAGATAAGGTGAGAGT
AATGACTAACTCCAAAGATGGCTTCACTGAAGAAAAGGCATTTTAAGATTTTTTAAAAATCTTGTCAGAAGATCCCAGAAAAGTTCTAAT
TTTCATTAGCAATTAATAAAGCTATACATGCAGAAATGAATACAACAGAACACTGCTCTTTTTGATTTTATTTGTACTTTTTGGCCTGGG
ATATGGGTTTTAAATGGACATTGTCTGTACCAGCTTCATTAAAATAAACAATATTTGTAAAAATCATACTAATGCTTATTTTATTTTAAT
TGTATAGAAAGAAAAAAATGCCTAAAATAAGGTTTTCTTGCATAAATACTGGAAATTGCACATGGTACAAATTTTTTCTTCATTACTGTA
CAGTGATGATGTTAATGACTTTGAAGCACTGAAAGTTACTGAAGTGCCTTCTGAATCAAGGATTTAATTAAGGCCACAATACCTTTTTAA
TACTCAGTGTTCTGTTTTTTTAAAAACTTGATATTCCTGTATGGTGCATATATGATACAGTTACCTAATCATGTTGAATAAATGGGCATG

>1911_1911_2_ACVR2A-SUMO1_ACVR2A_chr2_148680680_ENST00000404590_SUMO1_chr2_203072044_ENST00000392245_length(amino acids)=414AA_BP=
MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTD
CVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGP
PPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFH
EKGSLSDFLKANVVSWNELCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQV

--------------------------------------------------------------
>1911_1911_3_ACVR2A-SUMO1_ACVR2A_chr2_148680680_ENST00000535787_SUMO1_chr2_203072044_ENST00000392245_length(transcript)=1974nt_BP=1288nt
AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG
CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC
TGGGTTGAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCTGGAAGAAT
ATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGATTGTGTAGAAAAAAAAGAC
AGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACACAGCCCACT
TCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTGTCATTTGT
GCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCACCCCCACCTTCTCCATTA
CTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACGAATATGTG
GCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATGAGAACATA
TTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAGGGTTCACTATCA
GACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTGGCATATTTACATGAGGAT
ATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACCTGACAGCT
TGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAGGTTGGTACCCGGAGGTACATG
GCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCCTATGGGAA
CTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCAGGAACAAACGGGGGGTCATTCAAC
AGTTTAGTTTTAAAATTTGAGGGTCTGGACCAAAAGAAGAGGAATATCAGGTTGAAGTCAAGATGACAGATAAGGTGAGAGTAATGACTA
ACTCCAAAGATGGCTTCACTGAAGAAAAGGCATTTTAAGATTTTTTAAAAATCTTGTCAGAAGATCCCAGAAAAGTTCTAATTTTCATTA
GCAATTAATAAAGCTATACATGCAGAAATGAATACAACAGAACACTGCTCTTTTTGATTTTATTTGTACTTTTTGGCCTGGGATATGGGT
TTTAAATGGACATTGTCTGTACCAGCTTCATTAAAATAAACAATATTTGTAAAAATCATACTAATGCTTATTTTATTTTAATTGTATAGA
AAGAAAAAAATGCCTAAAATAAGGTTTTCTTGCATAAATACTGGAAATTGCACATGGTACAAATTTTTTCTTCATTACTGTACAGTGATG
ATGTTAATGACTTTGAAGCACTGAAAGTTACTGAAGTGCCTTCTGAATCAAGGATTTAATTAAGGCCACAATACCTTTTTAATACTCAGT

>1911_1911_3_ACVR2A-SUMO1_ACVR2A_chr2_148680680_ENST00000535787_SUMO1_chr2_203072044_ENST00000392245_length(amino acids)=408AA_BP=
MPPAAPSPRRSRLAATAASSAASGPRTLGVWVEDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTDCVEKKD
SPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGPPPPSPL
LGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFHEKGSLS
DFLKANVVSWNELCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQVGTRRYM

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Fusion Gene PPI Analysis for ACVR2A-SUMO1


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-SUMO1


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-SUMO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACVR2AC0920269Microsatellite Instability1CTD_human
HgeneACVR2AC1721098Replication Error Phenotype1CTD_human
TgeneC0008924Cleft upper lip1CTD_human
TgeneC0008925Cleft Palate1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0810364Cleft Lip with or without Cleft Palate1GENOMICS_ENGLAND
TgeneC1837210OROFACIAL CLEFT 51GENOMICS_ENGLAND
TgeneC1837218Cleft palate, isolated1CTD_human
TgeneC1866070OROFACIAL CLEFT 101CTD_human;GENOMICS_ENGLAND