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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:DOPEY2-PIBF1 (FusionGDB2 ID:HG9980TG10464)

Fusion Gene Summary for DOPEY2-PIBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: DOPEY2-PIBF1
Fusion gene ID: hg9980tg10464
HgeneTgene
Gene symbol

DOPEY2

PIBF1

Gene ID

9980

10464

Gene nameDOP1 leucine zipper like protein Bprogesterone immunomodulatory binding factor 1
Synonyms21orf5|C21orf5|DOPEY2C13orf24|CEP90|JBTS33|PIBF
Cytomap('DOPEY2')('PIBF1')

21q22.12

13q21.33-q22.1

Type of geneprotein-codingprotein-coding
Descriptionprotein dopey-2dopey family member 2homolog of yeast DOP1progesterone-induced-blocking factor 1centrosomal protein of 90 kDa
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000399151, ENST00000492760, 
Fusion gene scores* DoF score16 X 13 X 8=166416 X 13 X 13=2704
# samples 1923
** MAII scorelog2(19/1664*10)=-3.13058410981014
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/2704*10)=-3.55538938533781
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DOPEY2 [Title/Abstract] AND PIBF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDOPEY2(37571549)-PIBF1(73590007), # 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
TgenePIBF1

GO:0031393

negative regulation of prostaglandin biosynthetic process

3863495

TgenePIBF1

GO:0032695

negative regulation of interleukin-12 production

14634107

TgenePIBF1

GO:0032733

positive regulation of interleukin-10 production

14634107

TgenePIBF1

GO:0032815

negative regulation of natural killer cell activation

12516630

TgenePIBF1

GO:0042531

positive regulation of tyrosine phosphorylation of STAT protein

16393965

TgenePIBF1

GO:0042532

negative regulation of tyrosine phosphorylation of STAT protein

16393965

TgenePIBF1

GO:0042976

activation of Janus kinase activity

16393965



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
ChimerDB4LUSCTCGA-37-A5EN-01ADOPEY2chr21

37571549

-PIBF1chr13

73590007

+


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Fusion Gene ORF analysis for DOPEY2-PIBF1

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-3UTRENST00000399151ENST00000489922DOPEY2chr21

37571549

-PIBF1chr13

73590007

+
Frame-shiftENST00000399151ENST00000326291DOPEY2chr21

37571549

-PIBF1chr13

73590007

+
intron-3CDSENST00000492760ENST00000326291DOPEY2chr21

37571549

-PIBF1chr13

73590007

+
intron-3UTRENST00000492760ENST00000489922DOPEY2chr21

37571549

-PIBF1chr13

73590007

+

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 DOPEY2-PIBF1


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 DOPEY2-PIBF1


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/:37571549/:73590007)
- 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 DOPEY2-PIBF1


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 DOPEY2-PIBF1


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 DOPEY2-PIBF1


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 DOPEY2-PIBF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4540389JOUBERT SYNDROME 332GENOMICS_ENGLAND;UNIPROT
TgeneC0000821Threatened abortion1CTD_human
TgeneC0004134Ataxia1GENOMICS_ENGLAND
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0431399Familial aplasia of the vermis1GENOMICS_ENGLAND;ORPHANET
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC4313693Vermis hypoplasia1GENOMICS_ENGLAND
TgeneC4551568Joubert syndrome 11ORPHANET