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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:ACOX1-PPP2R3B (FusionGDB2 ID:HG51TG28227)

Fusion Gene Summary for ACOX1-PPP2R3B

check button Fusion gene summary
Fusion gene informationFusion gene name: ACOX1-PPP2R3B
Fusion gene ID: hg51tg28227
HgeneTgene
Gene symbol

ACOX1

PPP2R3B

Gene ID

51

28227

Gene nameacyl-CoA oxidase 1protein phosphatase 2 regulatory subunit B''beta
SynonymsACOX|PALMCOX|SCOXNYREN8|PPP2R3L|PPP2R3LY|PR48|PR70
Cytomap('ACOX1')('PPP2R3B')

17q25.1

Xp22.33 and Yp11.31

Type of geneprotein-codingprotein-coding
Descriptionperoxisomal acyl-coenzyme A oxidase 1AOXacyl-CoA oxidase 1, palmitoylacyl-CoA oxidase, straight-chainacyl-Coenzyme A oxidase 1, palmitoylpalmitoyl-CoA oxidaseperoxisomal fatty acyl-CoA oxidasestraight-chain acyl-CoA oxidaseserine/threonine-protein phosphatase 2A regulatory subunit B'' subunit betaNY-REN-8 antigenPP2A, subunit B, PR48 isoformprotein phosphatase 2 (formerly 2A), regulatory subunit B'', betaprotein phosphatase 2, regulatory subunit B'', betaserine/threoni
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000293217, ENST00000301608, 
ENST00000537812, ENST00000591857, 
Fusion gene scores* DoF score6 X 6 X 5=1804 X 5 X 4=80
# samples 107
** MAII scorelog2(10/180*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/80*10)=-0.192645077942396
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACOX1 [Title/Abstract] AND PPP2R3B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACOX1(73956296)-PPP2R3B(272325), # samples:1
ACOX1(73974615)-PPP2R3B(322325), # samples:1
Anticipated loss of major functional domain due to fusion event.ACOX1-PPP2R3B 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.
ACOX1-PPP2R3B 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.
ACOX1-PPP2R3B 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.
ACOX1-PPP2R3B 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.
ACOX1-PPP2R3B seems lost the major protein functional domain in Hgene partner, which is a cell metabolism 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
HgeneACOX1

GO:0006629

lipid metabolic process

8117268


check buttonFusion gene breakpoints across ACOX1 (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 PPP2R3B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-DK-AA6U-01AACOX1chr17

73956296

-PPP2R3BchrY

272325

-
ChimerDB4BLCATCGA-DK-AA6UACOX1chr17

73974615

-PPP2R3BchrX

322325

-


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Fusion Gene ORF analysis for ACOX1-PPP2R3B

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-intronENST00000293217ENST00000390665ACOX1chr17

73974615

-PPP2R3BchrX

322325

-
5CDS-intronENST00000301608ENST00000390665ACOX1chr17

73974615

-PPP2R3BchrX

322325

-
5CDS-intronENST00000537812ENST00000390665ACOX1chr17

73974615

-PPP2R3BchrX

322325

-
5UTR-3CDSENST00000591857ENST00000390665ACOX1chr17

73956296

-PPP2R3BchrY

272325

-
5UTR-intronENST00000591857ENST00000390665ACOX1chr17

73974615

-PPP2R3BchrX

322325

-
Frame-shiftENST00000293217ENST00000390665ACOX1chr17

73956296

-PPP2R3BchrY

272325

-
In-frameENST00000537812ENST00000390665ACOX1chr17

73956296

-PPP2R3BchrY

272325

-
intron-3CDSENST00000301608ENST00000390665ACOX1chr17

73956296

-PPP2R3BchrY

272325

-

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)
ENST00000537812ACOX1chr1773956296-ENST00000390665PPP2R3BchrY272325-27739657642368534

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
ENST00000537812ENST00000390665ACOX1chr1773956296-PPP2R3BchrY272325-0.0082733740.99172664

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Fusion Genomic Features for ACOX1-PPP2R3B


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 ACOX1-PPP2R3B


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/chr17:73956296/chrY:272325)
- 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
TgenePPP2R3Bchr17:73956296chrY:272325ENST00000390665013401_412108576.0Calcium bindingOntology_term=ECO:0000255
TgenePPP2R3Bchr17:73956296chrY:272325ENST00000390665013388_423108576.0DomainEF-hand

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACOX1chr17:73956296chrY:272325ENST00000293217-314658_660143661.0MotifNote=Microbody targeting signal
HgeneACOX1chr17:73956296chrY:272325ENST00000301608-114658_6600661.0MotifNote=Microbody targeting signal
HgeneACOX1chr17:73956296chrY:272325ENST00000537812-314658_660105623.0MotifNote=Microbody targeting signal


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Fusion Gene Sequence for ACOX1-PPP2R3B


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.
>1397_1397_1_ACOX1-PPP2R3B_ACOX1_chr17_73956296_ENST00000537812_PPP2R3B_chrY_272325_ENST00000390665_length(transcript)=2773nt_BP=965nt
AAAAAGTGCTTTATTTTCCCACTCCCCGGACGCCCAGCAGGGCAGTTTCTTGACCTTCGGAGCCCCTTTCCCGAGGATCCGCTCGGGAGC
CTCCCCTGGCCAGGAGCAGGGGATTAGTCTGCCCCGCGACCGGCCCCAGCCACGACGCGGACATCGCCCCCTCTGTCTGGGCCGCTGTCA
CTCACGCGCCAAAGGGCCACGGAGAAAGAAGGGGCGGGCCGGGGCGGGCCGGGCGAGCGGAGGCGGGGACTTGCGCCGTCCTGAGGCTGC
CTCCTAGGGTCCGGCCGGCGCTGGAGCTGCGGATTTAGATTGTCACTGCCACCTCGGTCGGTGCTTACTTCGCTGCCAGCTGGTCGTCGC
CATGAACCCGGACCTGCGCAGGGAGCGGGATTCCGCCAGCTTCAACCCGGAGCTGCTTACACACATCCTGGACGGCAGCCCCGAGAAAAC
CCGGCGCCGCCGAGAGATCGGTGAGGGCGGCGGGCGAGACCTCCCTCCTTTCCCGAGAAAAGCTGGAGACTCCCTCGATGCGGAGTCAGG
GGCGCTGTGGGGCCTAGGCCCTCTGGCCCAGCGTTAGGGGAGCCGGGACCCCCACTTCGAGGAACAGCCTGTGTCCCTGGTGGGGGGATA
TCGCCATTCCCCAGAGAACATGATCCTGAACGACCCAGACTTCCAGCATGAGGACTTGAACTTCCTCACTCGCAGCCAGCGTTATGAGGT
GGCTGTCAGGAAAAGTGCCATCATGGTGAAGAAGATGAGGGAGTTTGGCATCGCTGACCCTGATGAAATTATGTGGTTTAAAAATTTTGT
GCACCGAGGGCGGCCTGAGCCTCTGGATCTTCACTTGGGCATGTTCCTGCCCACCTTGCTTCACCAGGCAACTGCGGAGCAGCAGGAGCG
CTTCTTCATGCCCGCCTGGAACTTGGAGATCATTGGCACTTATGCCCAGACAGAGATGGGTCATGGTTCAGACACGGAAAGAAGAGCCTC
TGCCCCCGGCCACGAGCCAAAGCATTCCGACCTTCTACTTCCCCAGAGGACGCCCGCAGGACTCCGTCAACGTGGATGCCGTCATCAGCA
AGATCGAGAGCACCTTCGCCCGGTTCCCCCACGAGAGGGCCACCATGGATGACATGGGCCTGGTGGCCAAGGCCTGCGGCTGCCCCCTCT
ACTGGAAGGGGCCGCTCTTCTATGGCGCCGGCGGGGAGCGCACGGGCTCCGTGTCCGTCCACAAGTTCGTCGCCATGTGGAGAAAAATCC
TCCAGAACTGCCACGACGACGCGGCCAAGTTCGTCCATCTGCTCATGAGCCCCGGCTGCAACTACCTGGTGCAGGAGGACTTTGTCCCCT
TCTTGCAGGACGTGGTGAACACGCACCCGGGGCTGTCGTTCCTGAAGGAGGCGTCCGAGTTCCACTCGCGCTACATCACCACGGTCATCC
AGCGGATCTTCTACGCCGTGAACCGGTCCTGGTCCGGCAGGATCACCTGCGCCGAGCTGCGGAGGAGCTCCTTCCTGCAGAATGTGGCGC
TGCTGGAGGAGGAGGCGGACATCAACCAGCTGACCGAATTCTTCTCGTACGAGCATTTCTACGTCATCTACTGCAAGTTCTGGGAGCTGG
ACACGGACCACGACCTGCTCATCGACGCGGACGACCTGGCGCGGCACAATGACCACGCCCTTTCTACCAAGATGATAGACAGGATCTTCT
CAGGAGCAGTCACACGAGGCAGAAAAGTGCAGAAGGAAGGGAAGATCAGCTATGCCGACTTTGTCTGGTTTTTGATCTCTGAGGAAGACA
AAAAAACACCGACCAGCATCGAGTACTGGTTCCGCTGCATGGACCTGGACGGGGACGGCGCCCTGTCCATGTTCGAGCTCGAGTACTTCT
ACGAGGAGCAGTGCCGAAGGCTGGACAGCATGGCCATCGAGGCCCTGCCCTTCCAGGACTGCCTCTGCCAGATGCTGGACCTGGTCAAGC
CGAGGACTGAAGGGAAGATCACGCTGCAGGACCTGAAGCGCTGCAAGCTGGCTAACGTCTTCTTCGACACCTTCTTCAACATCGAGAAGT
ACCTCGACCACGAGCAGAAAGAGCAGATCTCCCTGCTCAGGGACGGTGACAGCGGCGGCCCCGAGCTCTCGGACTGGGAGAAGTACGCGG
CCGAGGAGTACGACATCCTGGTGGCCGAGGAGACTGCGGGAGAGCCCTGGGAGGACGGGTTCGAGGCCGAGCTCAGCCCTGTGGAGCAGA
AGCTGAGTGCGCTGCGCTCCCCGCTGGCCCAGAGGCCCTTCTTCGAGGCGCCCTCACCGCTGGGCGCCGTGGACCTGTACGAGTACGCAT
GCGGGGACGAGGACCTGGAGCCGCTGTGACGCCGCCCGCGAGAACGCCGCCGCGGGGCCGCTCCCCACGTGCCACCACCGGGCCACCGCG
GCTCGTGTAAAAACTGTTGTGGAAAATGAGTGCGTTTGTACGGAATGATAAACTTTTATTTATTCACAGAAGCGTGTTGATTGCCGCTGT
GGGTTCGTGGCTGGACCTGCCCAGAGCTCTGTGCCAGGGGGACACGTAGGGCCGCGCGTGAATGGGACGGGTTCCCACACGGACACCCTC
TGGCGCTTGCCGTTCCCGACCCAGCCTGGGTTCCGGGGCCTGCGTCTGTGGAAAGGGTCCGTGTGCGCACAACGGTGACCGGCGGCTCCC

>1397_1397_1_ACOX1-PPP2R3B_ACOX1_chr17_73956296_ENST00000537812_PPP2R3B_chrY_272325_ENST00000390665_length(amino acids)=534AA_BP=67
MASLTLMKLCGLKILCTEGGLSLWIFTWACSCPPCFTRQLRSSRSASSCPPGTWRSLALMPRQRWVMVQTRKEEPLPPATSQSIPTFYFP
RGRPQDSVNVDAVISKIESTFARFPHERATMDDMGLVAKACGCPLYWKGPLFYGAGGERTGSVSVHKFVAMWRKILQNCHDDAAKFVHLL
MSPGCNYLVQEDFVPFLQDVVNTHPGLSFLKEASEFHSRYITTVIQRIFYAVNRSWSGRITCAELRRSSFLQNVALLEEEADINQLTEFF
SYEHFYVIYCKFWELDTDHDLLIDADDLARHNDHALSTKMIDRIFSGAVTRGRKVQKEGKISYADFVWFLISEEDKKTPTSIEYWFRCMD
LDGDGALSMFELEYFYEEQCRRLDSMAIEALPFQDCLCQMLDLVKPRTEGKITLQDLKRCKLANVFFDTFFNIEKYLDHEQKEQISLLRD

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Fusion Gene PPI Analysis for ACOX1-PPP2R3B


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 ACOX1-PPP2R3B


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 ACOX1-PPP2R3B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACOX1C1849678Peroxisomal ACYL-COA oxidase deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACOX1C2239176Liver carcinoma2CTD_human
HgeneACOX1C0002152Alloxan Diabetes1CTD_human
HgeneACOX1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneACOX1C0038433Streptozotocin Diabetes1CTD_human