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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-CASP8 (FusionGDB2 ID:1905)

Fusion Gene Summary for ACVR2A-CASP8

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVR2A-CASP8
Fusion gene ID: 1905
HgeneTgene
Gene symbol

ACVR2A

CASP8

Gene ID

92

841

Gene nameactivin A receptor type 2Acaspase 8
SynonymsACTRII|ACVR2ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5
Cytomap

2q22.3-q23.1

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionactivin receptor type-2Aactivin A receptor, type IIAcaspase-8FADD-homologous ICE/CED-3-like proteaseFADD-like ICEICE-like apoptotic protease 5MACH-alpha-1/2/3 proteinMACH-beta-1/2/3/4 proteinMORT1-associated ced-3 homologapoptotic cysteine proteaseapoptotic protease Mch-5caspase 8, apoptosis-relat
Modification date2020031320200322
UniProtAcc

P27037

Q9UKL3

Ensembl transtripts involved in fusion geneENST00000241416, ENST00000404590, 
ENST00000535787, ENST00000495775, 
ENST00000264274, ENST00000264275, 
ENST00000323492, ENST00000392258, 
ENST00000392259, ENST00000392266, 
ENST00000358485, ENST00000432109, 
ENST00000490682, 
Fusion gene scores* DoF score8 X 7 X 7=3924 X 4 X 3=48
# samples 105
** MAII scorelog2(10/392*10)=-1.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACVR2A [Title/Abstract] AND CASP8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACVR2A(148674995)-CASP8(202131184), # samples:3
Anticipated loss of major functional domain due to fusion event.ACVR2A-CASP8 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ACVR2A-CASP8 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACVR2A-CASP8 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
ACVR2A-CASP8 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
ACVR2A-CASP8 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACVR2A-CASP8 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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

TgeneCASP8

GO:0006508

proteolysis

12888622

TgeneCASP8

GO:0036462

TRAIL-activated apoptotic signaling pathway

21785459

TgeneCASP8

GO:0045862

positive regulation of proteolysis

18387192

TgeneCASP8

GO:0097191

extrinsic apoptotic signaling pathway

21785459

TgeneCASP8

GO:0097202

activation of cysteine-type endopeptidase activity

18387192


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 CASP8 (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
ChimerDB4LUSCTCGA-21-1082-01AACVR2Achr2

148674995

-CASP8chr2

202131184

+
ChimerDB4LUSCTCGA-21-1082-01AACVR2Achr2

148674995

+CASP8chr2

202131184

+
ChimerDB4LUSCTCGA-21-1082ACVR2Achr2

148674995

+CASP8chr2

202131184

+
ChimerDB4LUSCTCGA-21-1082ACVR2Achr2

148674995

+CASP8chr2

202131210

+


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Fusion Gene ORF analysis for ACVR2A-CASP8

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-5UTRENST00000241416ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000241416ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000241416ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000241416ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000241416ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000241416ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000404590ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000404590ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000404590ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000404590ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000404590ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000404590ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000535787ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000535787ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000535787ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000535787ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000535787ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-5UTRENST00000535787ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000241416ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000241416ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000241416ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000241416ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000241416ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000241416ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000404590ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000404590ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000404590ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000404590ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000404590ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000404590ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000535787ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000535787ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000535787ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131210

+
5CDS-intronENST00000535787ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000535787ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131184

+
5CDS-intronENST00000535787ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000241416ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000241416ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000241416ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000241416ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000241416ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000404590ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000404590ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000404590ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000404590ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000404590ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000535787ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000535787ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000535787ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000535787ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131210

+
Frame-shiftENST00000535787ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131210

+
In-frameENST00000241416ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131210

+
In-frameENST00000404590ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131210

+
In-frameENST00000535787ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-3CDSENST00000495775ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-3CDSENST00000495775ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-3CDSENST00000495775ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-3CDSENST00000495775ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-3CDSENST00000495775ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-3CDSENST00000495775ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-5UTRENST00000495775ENST00000264274ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-5UTRENST00000495775ENST00000264275ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-5UTRENST00000495775ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-5UTRENST00000495775ENST00000392258ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-5UTRENST00000495775ENST00000392259ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-5UTRENST00000495775ENST00000392266ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-intronENST00000495775ENST00000323492ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-intronENST00000495775ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-intronENST00000495775ENST00000358485ACVR2Achr2

148674995

+CASP8chr2

202131210

+
intron-intronENST00000495775ENST00000432109ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-intronENST00000495775ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131184

+
intron-intronENST00000495775ENST00000490682ACVR2Achr2

148674995

+CASP8chr2

202131210

+

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)
ENST00000535787ACVR2Achr2148674995+ENST00000432109CASP8chr2202131210+2328888902327745
ENST00000241416ACVR2Achr2148674995+ENST00000432109CASP8chr2202131210+289214526362891751
ENST00000404590ACVR2Achr2148674995+ENST00000432109CASP8chr2202131210+24269861702425752

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
ENST00000535787ENST00000432109ACVR2Achr2148674995+CASP8chr2202131210+0.0022762160.99772376
ENST00000241416ENST00000432109ACVR2Achr2148674995+CASP8chr2202131210+0.0006234580.9993766
ENST00000404590ENST00000432109ACVR2Achr2148674995+CASP8chr2202131210+0.0013430280.998657

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Fusion Genomic Features for ACVR2A-CASP8


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)
ACVR2Achr2148674995+CASP8chr2202131183+1.99E-060.999998
ACVR2Achr2148674995+CASP8chr2202131183+1.99E-060.999998
ACVR2Achr2148674995+CASP8chr2202131209+4.96E-070.9999995
ACVR2Achr2148674995+CASP8chr2202131183+1.99E-060.999998
ACVR2Achr2148674995+CASP8chr2202131183+1.99E-060.999998
ACVR2Achr2148674995+CASP8chr2202131209+4.96E-070.9999995

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-CASP8


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/chr2:148674995/chr2:202131184)
- 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
ACVR2A

P27037

CASP8

Q9UKL3

FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6 (By similarity). {ECO:0000250|UniProtKB:P27038, ECO:0000269|PubMed:1314589}.FUNCTION: Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF-kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase. {ECO:0000269|PubMed:12477726, ECO:0000269|PubMed:15698540, ECO:0000269|PubMed:17003125, ECO:0000269|PubMed:17245429}.

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
HgeneACVR2Achr2:148674995chr2:202131210ENST00000241416+611198_206272514.0Nucleotide bindingATP
HgeneACVR2Achr2:148674995chr2:202131210ENST00000404590+712198_206272514.0Nucleotide bindingATP
HgeneACVR2Achr2:148674995chr2:202131210ENST00000241416+61120_135272514.0Topological domainExtracellular
HgeneACVR2Achr2:148674995chr2:202131210ENST00000404590+71220_135272514.0Topological domainExtracellular
HgeneACVR2Achr2:148674995chr2:202131210ENST00000241416+611136_161272514.0TransmembraneHelical
HgeneACVR2Achr2:148674995chr2:202131210ENST00000404590+712136_161272514.0TransmembraneHelical
TgeneCASP8chr2:148674995chr2:202131210ENST0000026427407100_1770396.0DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST00000264274072_800396.0DomainDED 1
TgeneCASP8chr2:148674995chr2:202131210ENST00000264275010100_1770497.0DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST000002642750102_800497.0DomainDED 1
TgeneCASP8chr2:148674995chr2:202131210ENST0000032349208100_1770465.0DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST00000323492082_800465.0DomainDED 1
TgeneCASP8chr2:148674995chr2:202131210ENST0000035848509100_1770539.0DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST00000358485092_800539.0DomainDED 1
TgeneCASP8chr2:148674995chr2:202131210ENST0000039225808100_1770224.66666666666666DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST00000392258082_800224.66666666666666DomainDED 1
TgeneCASP8chr2:148674995chr2:202131210ENST0000039225909100_1770751.3333333333334DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST00000392259092_800751.3333333333334DomainDED 1
TgeneCASP8chr2:148674995chr2:202131210ENST0000039226608100_1770736.3333333333334DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST00000392266082_800736.3333333333334DomainDED 1
TgeneCASP8chr2:148674995chr2:202131210ENST00000432109110100_1770480.0DomainDED 2
TgeneCASP8chr2:148674995chr2:202131210ENST000004321091102_800480.0DomainDED 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACVR2Achr2:148674995chr2:202131210ENST00000241416+611192_485272514.0DomainProtein kinase
HgeneACVR2Achr2:148674995chr2:202131210ENST00000404590+712192_485272514.0DomainProtein kinase
HgeneACVR2Achr2:148674995chr2:202131210ENST00000241416+611162_513272514.0Topological domainCytoplasmic
HgeneACVR2Achr2:148674995chr2:202131210ENST00000404590+712162_513272514.0Topological domainCytoplasmic


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Fusion Gene Sequence for ACVR2A-CASP8


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.
>1905_1905_1_ACVR2A-CASP8_ACVR2A_chr2_148674995_ENST00000241416_CASP8_chr2_202131210_ENST00000432109_length(transcript)=2892nt_BP=1452nt
AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG
CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC
TGGGTTGAAGGTCGGTCCGGACATCGGACCCAGTCAGTTCCCAGACTGTCCGGGCGGCAGCGGACGCCGCTGCCGCCGCCGCCTCTTCGT
CGCCTCAGCCTGGCGTTTTGTTCCGAGAGACGGGAGAGGCGAGCGGAGCTGACAGTGATTTTGACAGTGATTTAAACCCGCTTTTGTTGT
TGTTGGCTTTTCGTTGTTTGGTTTTGTGTGTTGTGCGTGTGTGTGGCGGTTTTTCCCCCGTGGTGCATTTTATTTTTTATCGTTGTGCTC
TTTTTTTTCTTTTTTTTTTTTAACCCAGTGAGCGTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGGGCTTCCGAATATGTTTTATGAC
GGTTGATTTTACACCAGGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTC
GGGAAAATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAG
GAGTGTCTTTTCTTTAATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGG
CATTGTTTTGCTACCTGGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGG
ACTGATTGTGTAGAAAAAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCG
GAGATGGAAGTCACACAGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATG
TTAATTGCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCA
GGACCACCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAA
GCCCAGTTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTG
CCTGGAATGAAGCATGAGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCA
TTTCATGAAAAGATGGACTTCAGCAGAAATCTTTATGATATTGGGGAACAACTGGACAGTGAAGATCTGGCCTCCCTCAAGTTCCTGAGC
CTGGACTACATTCCGCAAAGGAAGCAAGAACCCATCAAGGATGCCTTGATGTTATTCCAGAGACTCCAGGAAAAGAGAATGTTGGAGGAA
AGCAATCTGTCCTTCCTGAAGGAGCTGCTCTTCCGAATTAATAGACTGGATTTGCTGATTACCTACCTAAACACTAGAAAGGAGGAGATG
GAAAGGGAACTTCAGACACCAGGCAGGGCTCAAATTTCTGCCTACAGGGTCATGCTCTATCAGATTTCAGAAGAAGTGAGCAGATCAGAA
TTGAGGTCTTTTAAGTTTCTTTTGCAAGAGGAAATCTCCAAATGCAAACTGGATGATGACATGAACCTGCTGGATATTTTCATAGAGATG
GAGAAGAGGGTCATCCTGGGAGAAGGAAAGTTGGACATCCTGAAAAGAGTCTGTGCCCAAATCAACAAGAGCCTGCTGAAGATAATCAAC
GACTATGAAGAATTCAGCAAAGAGAGAAGCAGCAGCCTTGAAGGAAGTCCTGATGAATTTTCAAATGGGGAGGAGTTGTGTGGGGTAATG
ACAATCTCGGACTCTCCAAGAGAACAGGATAGTGAATCACAGACTTTGGACAAAGTTTACCAAATGAAAAGCAAACCTCGGGGATACTGT
CTGATCATCAACAATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTTCACAGCATTAGGGACAGGAATGGAACACACTTGGAT
GCAGGGGCTTTGACCACGACCTTTGAAGAGCTTCATTTTGAGATCAAGCCCCACGATGACTGCACAGTAGAGCAAATCTATGAGATTTTG
AAAATCTACCAACTCATGGACCACAGTAACATGGACTGCTTCATCTGCTGTATCCTCTCCCATGGAGACAAGGGCATCATCTATGGCACT
GATGGACAGGAGGCCCCCATCTATGAGCTGACATCTCAGTTCACTGGTTTGAAGTGCCCTTCCCTTGCTGGAAAACCCAAAGTGTTTTTT
ATTCAGGCTTGTCAGGGGGATAACTACCAGAAAGGTATACCTGTTGAGACTGATTCAGAGGAGCAACCCTATTTAGAAATGGATTTATCA
TCACCTCAAACGAGATATATCCCGGATGAGGCTGACTTTCTGCTGGGGATGGCCACTGTGAATAACTGTGTTTCCTACCGAAACCCTGCA
GAGGGAACCTGGTACATCCAGTCACTTTGCCAGAGCCTGAGAGAGCGATGTCCTCGAGGCGATGATATTCTCACCATCCTGACTGAAGTG
AACTATGAAGTAAGCAACAAGGATGACAAGAAAAACATGGGGAAACAGATGCCTCAGCCTACTTTCACACTAAGAAAAAAACTTGTCTTC

>1905_1905_1_ACVR2A-CASP8_ACVR2A_chr2_148674995_ENST00000241416_CASP8_chr2_202131210_ENST00000432109_length(amino acids)=751AA_BP=271
MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTD
CVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGP
PPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFH
EKMDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMER
ELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDY
EEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAG
ALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQ
ACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNY

--------------------------------------------------------------
>1905_1905_2_ACVR2A-CASP8_ACVR2A_chr2_148674995_ENST00000404590_CASP8_chr2_202131210_ENST00000432109_length(transcript)=2426nt_BP=986nt
GCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTCTGGGTTGAA
GGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTCGGGAAAATGGGAGCTG
CTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAGGAGTGTCTTTTCTTTA
ATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCT
GGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGATTGTGTAGAAA
AAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACAC
AGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTG
TCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCACCCCCACCTT
CTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACG
AATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATG
AGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAGATGG
ACTTCAGCAGAAATCTTTATGATATTGGGGAACAACTGGACAGTGAAGATCTGGCCTCCCTCAAGTTCCTGAGCCTGGACTACATTCCGC
AAAGGAAGCAAGAACCCATCAAGGATGCCTTGATGTTATTCCAGAGACTCCAGGAAAAGAGAATGTTGGAGGAAAGCAATCTGTCCTTCC
TGAAGGAGCTGCTCTTCCGAATTAATAGACTGGATTTGCTGATTACCTACCTAAACACTAGAAAGGAGGAGATGGAAAGGGAACTTCAGA
CACCAGGCAGGGCTCAAATTTCTGCCTACAGGGTCATGCTCTATCAGATTTCAGAAGAAGTGAGCAGATCAGAATTGAGGTCTTTTAAGT
TTCTTTTGCAAGAGGAAATCTCCAAATGCAAACTGGATGATGACATGAACCTGCTGGATATTTTCATAGAGATGGAGAAGAGGGTCATCC
TGGGAGAAGGAAAGTTGGACATCCTGAAAAGAGTCTGTGCCCAAATCAACAAGAGCCTGCTGAAGATAATCAACGACTATGAAGAATTCA
GCAAAGAGAGAAGCAGCAGCCTTGAAGGAAGTCCTGATGAATTTTCAAATGGGGAGGAGTTGTGTGGGGTAATGACAATCTCGGACTCTC
CAAGAGAACAGGATAGTGAATCACAGACTTTGGACAAAGTTTACCAAATGAAAAGCAAACCTCGGGGATACTGTCTGATCATCAACAATC
ACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAACTTCACAGCATTAGGGACAGGAATGGAACACACTTGGATGCAGGGGCTTTGACCA
CGACCTTTGAAGAGCTTCATTTTGAGATCAAGCCCCACGATGACTGCACAGTAGAGCAAATCTATGAGATTTTGAAAATCTACCAACTCA
TGGACCACAGTAACATGGACTGCTTCATCTGCTGTATCCTCTCCCATGGAGACAAGGGCATCATCTATGGCACTGATGGACAGGAGGCCC
CCATCTATGAGCTGACATCTCAGTTCACTGGTTTGAAGTGCCCTTCCCTTGCTGGAAAACCCAAAGTGTTTTTTATTCAGGCTTGTCAGG
GGGATAACTACCAGAAAGGTATACCTGTTGAGACTGATTCAGAGGAGCAACCCTATTTAGAAATGGATTTATCATCACCTCAAACGAGAT
ATATCCCGGATGAGGCTGACTTTCTGCTGGGGATGGCCACTGTGAATAACTGTGTTTCCTACCGAAACCCTGCAGAGGGAACCTGGTACA
TCCAGTCACTTTGCCAGAGCCTGAGAGAGCGATGTCCTCGAGGCGATGATATTCTCACCATCCTGACTGAAGTGAACTATGAAGTAAGCA

>1905_1905_2_ACVR2A-CASP8_ACVR2A_chr2_148674995_ENST00000404590_CASP8_chr2_202131210_ENST00000432109_length(amino acids)=752AA_BP=271
MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTD
CVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGP
PPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFH
EKMDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMER
ELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDY
EEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAG
ALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQ
ACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNY

--------------------------------------------------------------
>1905_1905_3_ACVR2A-CASP8_ACVR2A_chr2_148674995_ENST00000535787_CASP8_chr2_202131210_ENST00000432109_length(transcript)=2328nt_BP=888nt
AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG
CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC
TGGGTTGAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCTGGAAGAAT
ATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGATTGTGTAGAAAAAAAAGAC
AGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACACAGCCCACT
TCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTGTCATTTGT
GCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCACCCCCACCTTCTCCATTA
CTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACGAATATGTG
GCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATGAGAACATA
TTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAGATGGACTTCAGC
AGAAATCTTTATGATATTGGGGAACAACTGGACAGTGAAGATCTGGCCTCCCTCAAGTTCCTGAGCCTGGACTACATTCCGCAAAGGAAG
CAAGAACCCATCAAGGATGCCTTGATGTTATTCCAGAGACTCCAGGAAAAGAGAATGTTGGAGGAAAGCAATCTGTCCTTCCTGAAGGAG
CTGCTCTTCCGAATTAATAGACTGGATTTGCTGATTACCTACCTAAACACTAGAAAGGAGGAGATGGAAAGGGAACTTCAGACACCAGGC
AGGGCTCAAATTTCTGCCTACAGGGTCATGCTCTATCAGATTTCAGAAGAAGTGAGCAGATCAGAATTGAGGTCTTTTAAGTTTCTTTTG
CAAGAGGAAATCTCCAAATGCAAACTGGATGATGACATGAACCTGCTGGATATTTTCATAGAGATGGAGAAGAGGGTCATCCTGGGAGAA
GGAAAGTTGGACATCCTGAAAAGAGTCTGTGCCCAAATCAACAAGAGCCTGCTGAAGATAATCAACGACTATGAAGAATTCAGCAAAGAG
AGAAGCAGCAGCCTTGAAGGAAGTCCTGATGAATTTTCAAATGGGGAGGAGTTGTGTGGGGTAATGACAATCTCGGACTCTCCAAGAGAA
CAGGATAGTGAATCACAGACTTTGGACAAAGTTTACCAAATGAAAAGCAAACCTCGGGGATACTGTCTGATCATCAACAATCACAATTTT
GCAAAAGCACGGGAGAAAGTGCCCAAACTTCACAGCATTAGGGACAGGAATGGAACACACTTGGATGCAGGGGCTTTGACCACGACCTTT
GAAGAGCTTCATTTTGAGATCAAGCCCCACGATGACTGCACAGTAGAGCAAATCTATGAGATTTTGAAAATCTACCAACTCATGGACCAC
AGTAACATGGACTGCTTCATCTGCTGTATCCTCTCCCATGGAGACAAGGGCATCATCTATGGCACTGATGGACAGGAGGCCCCCATCTAT
GAGCTGACATCTCAGTTCACTGGTTTGAAGTGCCCTTCCCTTGCTGGAAAACCCAAAGTGTTTTTTATTCAGGCTTGTCAGGGGGATAAC
TACCAGAAAGGTATACCTGTTGAGACTGATTCAGAGGAGCAACCCTATTTAGAAATGGATTTATCATCACCTCAAACGAGATATATCCCG
GATGAGGCTGACTTTCTGCTGGGGATGGCCACTGTGAATAACTGTGTTTCCTACCGAAACCCTGCAGAGGGAACCTGGTACATCCAGTCA
CTTTGCCAGAGCCTGAGAGAGCGATGTCCTCGAGGCGATGATATTCTCACCATCCTGACTGAAGTGAACTATGAAGTAAGCAACAAGGAT

>1905_1905_3_ACVR2A-CASP8_ACVR2A_chr2_148674995_ENST00000535787_CASP8_chr2_202131210_ENST00000432109_length(amino acids)=745AA_BP=265
MPPAAPSPRRSRLAATAASSAASGPRTLGVWVEDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTDCVEKKD
SPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGPPPPSPL
LGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFHEKMDFS
RNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPG
RAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEFSKE
RSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTF
EELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDN
YQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKD

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

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Fusion Gene PPI Analysis for ACVR2A-CASP8


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-CASP8


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-CASP8


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