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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:FNBP1-RAC2 (FusionGDB2 ID:30871)

Fusion Gene Summary for FNBP1-RAC2

check button Fusion gene summary
Fusion gene informationFusion gene name: FNBP1-RAC2
Fusion gene ID: 30871
HgeneTgene
Gene symbol

FNBP1

RAC2

Gene ID

23048

5880

Gene nameformin binding protein 1Rac family small GTPase 2
SynonymsFBP17EN-7|Gx|HSPC022|p21-Rac2
Cytomap

9q34.11

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionformin-binding protein 1formin-binding protein 17ras-related C3 botulinum toxin substrate 2Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)small G protein
Modification date2020031320200313
UniProtAcc

Q96RU3

.
Ensembl transtripts involved in fusion geneENST00000355681, ENST00000420781, 
ENST00000446176, ENST00000443566, 
ENST00000478129, 
ENST00000401529, 
ENST00000249071, ENST00000406508, 
ENST00000405484, 
Fusion gene scores* DoF score9 X 12 X 3=3247 X 5 X 6=210
# samples 128
** MAII scorelog2(12/324*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FNBP1 [Title/Abstract] AND RAC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFNBP1(132805231)-RAC2(37622843), # samples:1
Anticipated loss of major functional domain due to fusion event.FNBP1-RAC2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FNBP1-RAC2 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
TgeneRAC2

GO:0060263

regulation of respiratory burst

16636067


check buttonFusion gene breakpoints across FNBP1 (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 RAC2 (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
ChimerDB4STADTCGA-D7-8574-01AFNBP1chr9

132805231

-RAC2chr22

37622843

-


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Fusion Gene ORF analysis for FNBP1-RAC2

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-intronENST00000355681ENST00000401529FNBP1chr9

132805231

-RAC2chr22

37622843

-
5CDS-intronENST00000420781ENST00000401529FNBP1chr9

132805231

-RAC2chr22

37622843

-
5CDS-intronENST00000446176ENST00000401529FNBP1chr9

132805231

-RAC2chr22

37622843

-
Frame-shiftENST00000355681ENST00000249071FNBP1chr9

132805231

-RAC2chr22

37622843

-
Frame-shiftENST00000355681ENST00000406508FNBP1chr9

132805231

-RAC2chr22

37622843

-
Frame-shiftENST00000420781ENST00000249071FNBP1chr9

132805231

-RAC2chr22

37622843

-
Frame-shiftENST00000420781ENST00000406508FNBP1chr9

132805231

-RAC2chr22

37622843

-
Frame-shiftENST00000446176ENST00000249071FNBP1chr9

132805231

-RAC2chr22

37622843

-
Frame-shiftENST00000446176ENST00000406508FNBP1chr9

132805231

-RAC2chr22

37622843

-
In-frameENST00000355681ENST00000405484FNBP1chr9

132805231

-RAC2chr22

37622843

-
In-frameENST00000420781ENST00000405484FNBP1chr9

132805231

-RAC2chr22

37622843

-
In-frameENST00000446176ENST00000405484FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-3CDSENST00000443566ENST00000249071FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-3CDSENST00000443566ENST00000405484FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-3CDSENST00000443566ENST00000406508FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-3CDSENST00000478129ENST00000249071FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-3CDSENST00000478129ENST00000405484FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-3CDSENST00000478129ENST00000406508FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-intronENST00000443566ENST00000401529FNBP1chr9

132805231

-RAC2chr22

37622843

-
intron-intronENST00000478129ENST00000401529FNBP1chr9

132805231

-RAC2chr22

37622843

-

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)
ENST00000446176FNBP1chr9132805231-ENST00000405484RAC2chr2237622843-3422115134196
ENST00000420781FNBP1chr9132805231-ENST00000405484RAC2chr2237622843-3742433121104
ENST00000355681FNBP1chr9132805231-ENST00000405484RAC2chr2237622843-3472165634697

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
ENST00000446176ENST00000405484FNBP1chr9132805231-RAC2chr2237622843-0.80204620.1979538
ENST00000420781ENST00000405484FNBP1chr9132805231-RAC2chr2237622843-0.829903660.17009631
ENST00000355681ENST00000405484FNBP1chr9132805231-RAC2chr2237622843-0.776019750.22398026

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Fusion Genomic Features for FNBP1-RAC2


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

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.

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Fusion Protein Features for FNBP1-RAC2


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/chr9:132805231/chr22:37622843)
- 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
FNBP1

Q96RU3

.
FUNCTION: May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL. {ECO:0000250, ECO:0000269|PubMed:15252009, ECO:0000269|PubMed:16318909, ECO:0000269|PubMed:16326391, ECO:0000269|PubMed:16418535, ECO:0000269|PubMed:17512409}.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
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116398_4908593.0Coiled coilOntology_term=ECO:0000250
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-11667_2598593.0Coiled coilOntology_term=ECO:0000269
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117398_4908618.0Coiled coilOntology_term=ECO:0000250
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-11767_2598618.0Coiled coilOntology_term=ECO:0000269
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116340_3458593.0Compositional biasNote=Poly-Pro
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117340_3458618.0Compositional biasNote=Poly-Pro
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-1161_2648593.0DomainF-BAR
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116404_4818593.0DomainREM-1
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116550_6118593.0DomainSH3
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-1171_2648618.0DomainF-BAR
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117404_4818618.0DomainREM-1
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117550_6118618.0DomainSH3
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-1161_798593.0RegionNote=Required for self-association and induction of membrane tubulation
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116251_6178593.0RegionNote=Required for self-association and induction of membrane tubulation
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-1171_798618.0RegionNote=Required for self-association and induction of membrane tubulation
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117251_6178618.0RegionNote=Required for self-association and induction of membrane tubulation
TgeneRAC2chr9:132805231chr22:37622843ENST000002490714732_40149420.6666666666667MotifEffector region
TgeneRAC2chr9:132805231chr22:37622843ENST000002490714710_17149420.6666666666667Nucleotide bindingGTP
TgeneRAC2chr9:132805231chr22:37622843ENST0000024907147115_118149420.6666666666667Nucleotide bindingGTP
TgeneRAC2chr9:132805231chr22:37622843ENST000002490714757_61149420.6666666666667Nucleotide bindingGTP


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Fusion Gene Sequence for FNBP1-RAC2


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.
>30871_30871_1_FNBP1-RAC2_FNBP1_chr9_132805231_ENST00000355681_RAC2_chr22_37622843_ENST00000405484_length(transcript)=347nt_BP=216nt
ATTTTGCTGTGGAGCGGCGGGGAGGAGGAGCCGCCGAGGAGACCCCGGGCGAGGAGCTGCGAGCCGGAGGAGGCCGCGCGGACTCCGGGC
TTTCCGCCGTCGCGGGGATCTCGGGGGGCAAAGGGATCGCCGGGGAGGGGGACCAGAGAGCCGCGCCCGCCGCGCGGAGCGCCCCTTCGC
GTCCCCTGCACCATGAGCTGGGGCACCGAGCTCTGGACTCGGTGAAATACCTGGAGTGCTCAGCTCTCACCCAGAGAGGCCTGAAAACCG

>30871_30871_1_FNBP1-RAC2_FNBP1_chr9_132805231_ENST00000355681_RAC2_chr22_37622843_ENST00000405484_length(amino acids)=97AA_BP=53
MRAGGGRADSGLSAVAGISGGKGIAGEGDQRAAPAARSAPSRPLHHELGHRALDSVKYLECSALTQRGLKTVFDEAIRAVLCPQPTRQQK

--------------------------------------------------------------
>30871_30871_2_FNBP1-RAC2_FNBP1_chr9_132805231_ENST00000420781_RAC2_chr22_37622843_ENST00000405484_length(transcript)=374nt_BP=243nt
CGGCCGCGGCTGCTGCTTCCTCGGGCCATTTTGCTGTGGAGCGGCGGGGAGGAGGAGCCGCCGAGGAGACCCCGGGCGAGGAGCTGCGAG
CCGGAGGAGGCCGCGCGGACTCCGGGCTTTCCGCCGTCGCGGGGATCTCGGGGGGCAAAGGGATCGCCGGGGAGGGGGACCAGAGAGCCG
CGCCCGCCGCGCGGAGCGCCCCTTCGCGTCCCCTGCACCATGAGCTGGGGCACCGAGCTCTGGACTCGGTGAAATACCTGGAGTGCTCAG
CTCTCACCCAGAGAGGCCTGAAAACCGTGTTCGACGAGGCCATCCGGGCCGTGCTGTGCCCTCAGCCCACGCGGCAGCAGAAGCGCGCCT

>30871_30871_2_FNBP1-RAC2_FNBP1_chr9_132805231_ENST00000420781_RAC2_chr22_37622843_ENST00000405484_length(amino acids)=104AA_BP=0
MASSNTVFRPLWVRAEHSRYFTESRARCPSSWCRGREGALRAAGAALWSPSPAIPLPPEIPATAESPESARPPPARSSSPGVSSAAPPPR

--------------------------------------------------------------
>30871_30871_3_FNBP1-RAC2_FNBP1_chr9_132805231_ENST00000446176_RAC2_chr22_37622843_ENST00000405484_length(transcript)=342nt_BP=211nt
GCTGTGGAGCGGCGGGGAGGAGGAGCCGCCGAGGAGACCCCGGGCGAGGAGCTGCGAGCCGGAGGAGGCCGCGCGGACTCCGGGCTTTCC
GCCGTCGCGGGGATCTCGGGGGGCAAAGGGATCGCCGGGGAGGGGGACCAGAGAGCCGCGCCCGCCGCGCGGAGCGCCCCTTCGCGTCCC
CTGCACCATGAGCTGGGGCACCGAGCTCTGGACTCGGTGAAATACCTGGAGTGCTCAGCTCTCACCCAGAGAGGCCTGAAAACCGTGTTC

>30871_30871_3_FNBP1-RAC2_FNBP1_chr9_132805231_ENST00000446176_RAC2_chr22_37622843_ENST00000405484_length(amino acids)=96AA_BP=53
MRAGGGRADSGLSAVAGISGGKGIAGEGDQRAAPAARSAPSRPLHHELGHRALDSVKYLECSALTQRGLKTVFDEAIRAVLCPQPTRQQK

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

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Fusion Gene PPI Analysis for FNBP1-RAC2


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
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116550_6178.0593.0ARHGAP17%2C DAAM1%2C DIAPH1 and DIAPH2
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117550_6178.0618.0ARHGAP17%2C DAAM1%2C DIAPH1 and DIAPH2
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116535_6178.0593.0DNM1 and DNM3
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117535_6178.0618.0DNM1 and DNM3
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116553_6098.0593.0DNM2 and WASL
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117553_6098.0618.0DNM2 and WASL
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116553_6108.0593.0FASLG
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117553_6108.0618.0FASLG
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-1161_3358.0593.0microtubules
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-1171_3358.0618.0microtubules
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116495_6178.0593.0PDE6G
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117495_6178.0618.0PDE6G
HgeneFNBP1chr9:132805231chr22:37622843ENST00000355681-116400_5528.0593.0RND2
HgeneFNBP1chr9:132805231chr22:37622843ENST00000446176-117400_5528.0618.0RND2


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 FNBP1-RAC2


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 FNBP1-RAC2


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