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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:PER1-AURKB (FusionGDB2 ID:HG5187TG9212)

Fusion Gene Summary for PER1-AURKB

check button Fusion gene summary
Fusion gene informationFusion gene name: PER1-AURKB
Fusion gene ID: hg5187tg9212
HgeneTgene
Gene symbol

PER1

AURKB

Gene ID

5187

9212

Gene nameperiod circadian regulator 1aurora kinase B
SynonymsPER|RIGUI|hPERAIK2|AIM-1|AIM1|ARK-2|ARK2|AurB|IPL1|PPP1R48|STK-1|STK12|STK5|aurkb-sv1|aurkb-sv2
Cytomap('PER1')('AURKB')

17p13.1

17p13.1

Type of geneprotein-codingprotein-coding
Descriptionperiod circadian protein homolog 1Period, drosophila, homolog ofcircadian clock protein PERIOD 1circadian pacemaker protein RIGUIhPER1period circadian clock 1period homolog 1aurora kinase Baurora kinase B-Sv1aurora kinase B-Sv2aurora- and Ipl1-like midbody-associated protein 1aurora-1aurora-Baurora-related kinase 2aurora/IPL1-related kinase 2protein phosphatase 1, regulatory subunit 48serine/threonine kinase 12serin
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000317276, ENST00000354903, 
ENST00000578089, ENST00000581082, 
Fusion gene scores* DoF score7 X 7 X 5=2451 X 1 X 1=1
# samples 71
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: PER1 [Title/Abstract] AND AURKB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPER1(8055654)-AURKB(8108708), # 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
HgenePER1

GO:0032922

circadian regulation of gene expression

18411297|24005054

HgenePER1

GO:0043966

histone H3 acetylation

14645221

HgenePER1

GO:0043967

histone H4 acetylation

14645221

TgeneAURKB

GO:0000122

negative regulation of transcription by RNA polymerase II

20959462

TgeneAURKB

GO:0002903

negative regulation of B cell apoptotic process

20959462

TgeneAURKB

GO:0006468

protein phosphorylation

21820309|22724069

TgeneAURKB

GO:0032091

negative regulation of protein binding

21820309

TgeneAURKB

GO:0034644

cellular response to UV

20959462

TgeneAURKB

GO:0036089

cleavage furrow formation

16103226

TgeneAURKB

GO:1905116

positive regulation of lateral attachment of mitotic spindle microtubules to kinetochore

28751710



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
ChimerDB4BLCATCGA-4Z-AA7QPER1chr17

8055654

-AURKBchr17

8108708

-


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Fusion Gene ORF analysis for PER1-AURKB

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
5UTR-3CDSENST00000317276ENST00000316199PER1chr17

8055654

-AURKBchr17

8108708

-
5UTR-3CDSENST00000317276ENST00000534871PER1chr17

8055654

-AURKBchr17

8108708

-
5UTR-3CDSENST00000317276ENST00000585124PER1chr17

8055654

-AURKBchr17

8108708

-
5UTR-3UTRENST00000317276ENST00000535053PER1chr17

8055654

-AURKBchr17

8108708

-
5UTR-3UTRENST00000317276ENST00000578549PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000354903ENST00000316199PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000354903ENST00000534871PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000354903ENST00000585124PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000578089ENST00000316199PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000578089ENST00000534871PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000578089ENST00000585124PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000581082ENST00000316199PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000581082ENST00000534871PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3CDSENST00000581082ENST00000585124PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3UTRENST00000354903ENST00000535053PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3UTRENST00000354903ENST00000578549PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3UTRENST00000578089ENST00000535053PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3UTRENST00000578089ENST00000578549PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3UTRENST00000581082ENST00000535053PER1chr17

8055654

-AURKBchr17

8108708

-
intron-3UTRENST00000581082ENST00000578549PER1chr17

8055654

-AURKBchr17

8108708

-

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 PER1-AURKB


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 PER1-AURKB


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/:8055654/:8108708)
- 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 PER1-AURKB


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 PER1-AURKB


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 PER1-AURKB


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 PER1-AURKB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePER1C0004352Autistic Disorder1CTD_human
HgenePER1C0023473Myeloid Leukemia, Chronic1CTD_human
HgenePER1C0038587Substance Withdrawal Syndrome1CTD_human
HgenePER1C0086189Drug Withdrawal Symptoms1CTD_human
HgenePER1C0087031Juvenile-Onset Still Disease1CTD_human
HgenePER1C0087169Withdrawal Symptoms1CTD_human
HgenePER1C3495559Juvenile arthritis1CTD_human
HgenePER1C3714758Juvenile psoriatic arthritis1CTD_human
HgenePER1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgenePER1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC0017661IGA Glomerulonephritis1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2239176Liver carcinoma1CTD_human