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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:BAZ1A-PARK2 (FusionGDB2 ID:HG11177TG5071)

Fusion Gene Summary for BAZ1A-PARK2

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ1A-PARK2
Fusion gene ID: hg11177tg5071
HgeneTgene
Gene symbol

BAZ1A

PARK2

Gene ID

11177

5071

Gene namebromodomain adjacent to zinc finger domain 1Aparkin RBR E3 ubiquitin protein ligase
SynonymsACF1|WALp1|WCRF180|hACF1AR-JP|LPRS2|PARK2|PDJ
Cytomap('BAZ1A')('PARK2')

14q13.1-q13.2

6q26

Type of geneprotein-codingprotein-coding
Descriptionbromodomain adjacent to zinc finger domain protein 1AATP-dependent chromatin remodeling proteinATP-utilizing chromatin assembly and remodeling factor 1CHRAC subunit ACF1hWALp1williams syndrome transcription factor-related chromatin-remodeling factor E3 ubiquitin-protein ligase parkinParkinson disease (autosomal recessive, juvenile) 2, parkinparkinson juvenile disease protein 2parkinson protein 2 E3 ubiquitin protein ligaseparkinson protein 2, E3 ubiquitin protein ligase (parkin)
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000358716, ENST00000360310, 
ENST00000382422, ENST00000553853, 
Fusion gene scores* DoF score12 X 9 X 5=54020 X 16 X 5=1600
# samples 1221
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/1600*10)=-2.9296106721086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAZ1A [Title/Abstract] AND PARK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAZ1A(35269532)-PARK2(163068980), # samples:1
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
HgeneBAZ1A

GO:0006261

DNA-dependent DNA replication

12434153

TgenePARK2

GO:0000209

protein polyubiquitination

12150907|16227987|18541373|19880420

TgenePARK2

GO:0000422

autophagy of mitochondrion

25621951

TgenePARK2

GO:0001933

negative regulation of protein phosphorylation

17512523

TgenePARK2

GO:0006511

ubiquitin-dependent protein catabolic process

12925569|17097639

TgenePARK2

GO:0006513

protein monoubiquitination

20889974

TgenePARK2

GO:0010506

regulation of autophagy

20889974

TgenePARK2

GO:0010821

regulation of mitochondrion organization

21113145

TgenePARK2

GO:0016567

protein ubiquitination

10973942|11439185|12628165|17314283

TgenePARK2

GO:0031648

protein destabilization

19591802|29311685

TgenePARK2

GO:0032232

negative regulation of actin filament bundle assembly

17512523

TgenePARK2

GO:0033132

negative regulation of glucokinase activity

24187134

TgenePARK2

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

17314283|19880420

TgenePARK2

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

11439185|21376232

TgenePARK2

GO:0043388

positive regulation of DNA binding

17314283

TgenePARK2

GO:0043524

negative regulation of neuron apoptotic process

12628165|22511790|23985028

TgenePARK2

GO:0044828

negative regulation by host of viral genome replication

25244949

TgenePARK2

GO:0045944

positive regulation of transcription by RNA polymerase II

23453807

TgenePARK2

GO:0046676

negative regulation of insulin secretion

24187134

TgenePARK2

GO:0051865

protein autoubiquitination

12628165|15728840|16352719|17512523

TgenePARK2

GO:0060548

negative regulation of cell death

15603737

TgenePARK2

GO:0061734

parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization

19029340

TgenePARK2

GO:0070534

protein K63-linked ubiquitination

15728840|17314283|19880420|25621951

TgenePARK2

GO:0070936

protein K48-linked ubiquitination

21376232|23858059

TgenePARK2

GO:0070979

protein K11-linked ubiquitination

25621951

TgenePARK2

GO:0085020

protein K6-linked ubiquitination

25621951

TgenePARK2

GO:0090090

negative regulation of canonical Wnt signaling pathway

19591802

TgenePARK2

GO:0090201

negative regulation of release of cytochrome c from mitochondria

19880420|23453807

TgenePARK2

GO:0098779

positive regulation of mitophagy in response to mitochondrial depolarization

20457763

TgenePARK2

GO:0099074

mitochondrion to lysosome transport

24446486

TgenePARK2

GO:1900407

regulation of cellular response to oxidative stress

24446486

TgenePARK2

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

11439185|12150907|23453807

TgenePARK2

GO:1903265

positive regulation of tumor necrosis factor-mediated signaling pathway

23453807

TgenePARK2

GO:1903377

negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

17314283

TgenePARK2

GO:1903599

positive regulation of autophagy of mitochondrion

26310625



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


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Fusion Gene ORF analysis for BAZ1A-PARK2

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

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 BAZ1A-PARK2


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 BAZ1A-PARK2


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/:35269532/:163068980)
- 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

- 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 BAZ1A-PARK2


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 BAZ1A-PARK2


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 BAZ1A-PARK2


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 BAZ1A-PARK2


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