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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:FN1-ACVR2A (FusionGDB2 ID:HG2335TG92)

Fusion Gene Summary for FN1-ACVR2A

check button Fusion gene summary
Fusion gene informationFusion gene name: FN1-ACVR2A
Fusion gene ID: hg2335tg92
HgeneTgene
Gene symbol

FN1

ACVR2A

Gene ID

2335

92

Gene namefibronectin 1activin A receptor type 2A
SynonymsCIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCFACTRII|ACVR2
Cytomap('FN1')('ACVR2A')

2q35

2q22.3-q23.1

Type of geneprotein-codingprotein-coding
Descriptionfibronectincold-insoluble globulinepididymis secretory sperm binding proteinmigration-stimulating factoractivin receptor type-2Aactivin A receptor, type IIA
Modification date2020032920200313
UniProtAcc

P02751

.
Ensembl transtripts involved in fusion geneENST00000323926, ENST00000336916, 
ENST00000345488, ENST00000346544, 
ENST00000354785, ENST00000356005, 
ENST00000357009, ENST00000357867, 
ENST00000359671, ENST00000421182, 
ENST00000426059, ENST00000432072, 
ENST00000443816, ENST00000446046, 
ENST00000490833, 
Fusion gene scores* DoF score47 X 49 X 13=299395 X 6 X 5=150
# samples 486
** MAII scorelog2(48/29939*10)=-5.96284781832542
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FN1 [Title/Abstract] AND ACVR2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFN1

GO:0001932

regulation of protein phosphorylation

11792823

HgeneFN1

GO:0008284

positive regulation of cell proliferation

25834989

HgeneFN1

GO:0010628

positive regulation of gene expression

25834989

HgeneFN1

GO:0018149

peptide cross-linking

3997886

HgeneFN1

GO:0034446

substrate adhesion-dependent cell spreading

16236823

HgeneFN1

GO:0035987

endodermal cell differentiation

23154389

HgeneFN1

GO:0048146

positive regulation of fibroblast proliferation

25834989

HgeneFN1

GO:0051702

interaction with symbiont

12167537|12421310|19429745

HgeneFN1

GO:0070372

regulation of ERK1 and ERK2 cascade

11792823

HgeneFN1

GO:1901166

neural crest cell migration involved in autonomic nervous system development

26571399

HgeneFN1

GO:1904237

positive regulation of substrate-dependent cell migration, cell attachment to substrate

25834989

HgeneFN1

GO:2001202

negative regulation of transforming growth factor-beta secretion

25834989

TgeneACVR2A

GO:0030509

BMP signaling pathway

18436533

TgeneACVR2A

GO:0032927

positive regulation of activin receptor signaling pathway

12665502

TgeneACVR2A

GO:0045648

positive regulation of erythrocyte differentiation

9032295



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerKB4..FN1chr2

216290008

-ACVR2Achr2

216290008

+


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Fusion Gene ORF analysis for FN1-ACVR2A

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000323926ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000323926ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000323926ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000323926ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000336916ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000336916ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000336916ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000336916ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000345488ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000345488ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000345488ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000345488ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000346544ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000346544ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000346544ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000346544ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000354785ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000354785ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000354785ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000354785ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000356005ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000356005ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000356005ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000356005ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357009ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357009ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357009ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357009ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357867ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357867ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357867ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000357867ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000359671ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000359671ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000359671ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000359671ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000421182ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000421182ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000421182ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000421182ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000426059ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000426059ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000426059ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000426059ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000432072ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000432072ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000432072ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000432072ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000443816ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000443816ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000443816ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000443816ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000446046ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000446046ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000446046ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000446046ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000490833ENST00000241416FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000490833ENST00000404590FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000490833ENST00000495775FN1chr2

216290008

-ACVR2Achr2

216290008

+
intron-intronENST00000490833ENST00000535787FN1chr2

216290008

-ACVR2Achr2

216290008

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FN1-ACVR2A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for FN1-ACVR2A


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:)
- 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
FN1

P02751

.
FUNCTION: Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin (PubMed:3024962, PubMed:3900070, PubMed:3593230, PubMed:7989369). Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape (PubMed:3024962, PubMed:3900070, PubMed:3593230, PubMed:7989369). Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization (By similarity). Participates in the regulation of type I collagen deposition by osteoblasts (By similarity). Acts as a ligand for the LILRB4 receptor, inhibiting FCGR1A/CD64-mediated monocyte activation (PubMed:34089617). {ECO:0000250|UniProtKB:P11276, ECO:0000269|PubMed:3024962, ECO:0000269|PubMed:34089617, ECO:0000269|PubMed:3593230, ECO:0000269|PubMed:3900070, ECO:0000269|PubMed:7989369}.; FUNCTION: [Anastellin]: Binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling. {ECO:0000269|PubMed:11209058, ECO:0000269|PubMed:15665290, ECO:0000269|PubMed:19379667, ECO:0000269|PubMed:8114919}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for FN1-ACVR2A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FN1-ACVR2A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FN1-ACVR2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFN1P02751DB08888OcriplasminCleavageBiotechApproved
HgeneFN1P02751DB08888OcriplasminCleavageBiotechApproved
HgeneFN1P02751DB14548Zinc sulfate, unspecified formLigand|ModulatorSmall moleculeApproved|Experimental
HgeneFN1P02751DB14548Zinc sulfate, unspecified formLigand|ModulatorSmall moleculeApproved|Experimental
HgeneFN1P02751DB01593ZincSmall moleculeApproved|Investigational
HgeneFN1P02751DB01593ZincSmall moleculeApproved|Investigational
HgeneFN1P02751DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneFN1P02751DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneFN1P02751DB14533Zinc chlorideLigand|ModulatorSmall moleculeApproved|Investigational
HgeneFN1P02751DB14533Zinc chlorideLigand|ModulatorSmall moleculeApproved|Investigational

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Related Diseases for FN1-ACVR2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFN1C0020538Hypertensive disease2CTD_human
HgeneFN1C0432221Spondylometaphyseal dysplasia, 'corner fracture' type2GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFN1C0000786Spontaneous abortion1CTD_human
HgeneFN1C0000822Abortion, Tubal1CTD_human
HgeneFN1C0003504Aortic Valve Insufficiency1CTD_human
HgeneFN1C0006142Malignant neoplasm of breast1CTD_human;UNIPROT
HgeneFN1C0007097Carcinoma1CTD_human
HgeneFN1C0007621Neoplastic Cell Transformation1CTD_human
HgeneFN1C0010346Crohn Disease1CTD_human
HgeneFN1C0011849Diabetes Mellitus1CTD_human
HgeneFN1C0011881Diabetic Nephropathy1CTD_human
HgeneFN1C0017636Glioblastoma1CTD_human
HgeneFN1C0017667Nodular glomerulosclerosis1CTD_human
HgeneFN1C0017668Focal glomerulosclerosis1CTD_human
HgeneFN1C0024667Animal Mammary Neoplasms1CTD_human
HgeneFN1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneFN1C0027626Neoplasm Invasiveness1CTD_human
HgeneFN1C0034069Pulmonary Fibrosis1CTD_human
HgeneFN1C0041956Ureteral obstruction1CTD_human
HgeneFN1C0085762Alcohol abuse1PSYGENET
HgeneFN1C0086432Hyalinosis, Segmental Glomerular1CTD_human
HgeneFN1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneFN1C0156147Crohn's disease of large bowel1CTD_human
HgeneFN1C0205696Anaplastic carcinoma1CTD_human
HgeneFN1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneFN1C0205698Undifferentiated carcinoma1CTD_human
HgeneFN1C0205699Carcinomatosis1CTD_human
HgeneFN1C0267380Crohn's disease of the ileum1CTD_human
HgeneFN1C0334588Giant Cell Glioblastoma1CTD_human
HgeneFN1C0345967Malignant mesothelioma1CTD_human
HgeneFN1C0678202Regional enteritis1CTD_human
HgeneFN1C0678222Breast Carcinoma1CTD_human
HgeneFN1C0949272IIeocolitis1CTD_human
HgeneFN1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneFN1C1257931Mammary Neoplasms, Human1CTD_human
HgeneFN1C1458155Mammary Neoplasms1CTD_human
HgeneFN1C1621958Glioblastoma Multiforme1CTD_human
HgeneFN1C1866075GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFN1C3830362Early Pregnancy Loss1CTD_human
HgeneFN1C3888104Glomerulopathy with fibronectin deposits1CTD_human;ORPHANET
HgeneFN1C4552766Miscarriage1CTD_human
HgeneFN1C4704874Mammary Carcinoma, Human1CTD_human
HgeneFN1C4721507Alveolitis, Fibrosing1CTD_human
TgeneC0920269Microsatellite Instability1CTD_human
TgeneC1721098Replication Error Phenotype1CTD_human