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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:FBXO7-PDPK1 (FusionGDB2 ID:HG25793TG5170)

Fusion Gene Summary for FBXO7-PDPK1

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXO7-PDPK1
Fusion gene ID: hg25793tg5170
HgeneTgene
Gene symbol

FBXO7

PDPK1

Gene ID

25793

5170

Gene nameF-box protein 73-phosphoinositide dependent protein kinase 1
SynonymsFBX|FBX07|FBX7|PARK15|PKPSPDK1|PDPK2|PDPK2P|PRO0461
Cytomap('FBXO7')('PDPK1')

22q12.3

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionF-box only protein 73-phosphoinositide-dependent protein kinase 13-phosphoinositide-dependent protein kinase 2 pseudogenePkB kinase like gene 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000266087, ENST00000382058, 
ENST00000397426, ENST00000465418, 
Fusion gene scores* DoF score6 X 7 X 2=843 X 3 X 2=18
# samples 73
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FBXO7 [Title/Abstract] AND PDPK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFBXO7(32883815)-PDPK1(2645794), # samples:1
Anticipated loss of major functional domain due to fusion event.FBXO7-PDPK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
FBXO7-PDPK1 seems lost the major protein functional domain in Tgene partner, which is a kinase 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
HgeneFBXO7

GO:0006511

ubiquitin-dependent protein catabolic process

25029497

HgeneFBXO7

GO:0016567

protein ubiquitination

16510124

HgeneFBXO7

GO:0031647

regulation of protein stability

15145941

HgeneFBXO7

GO:0040012

regulation of locomotion

26310625

HgeneFBXO7

GO:1903599

positive regulation of autophagy of mitochondrion

26310625

TgenePDPK1

GO:0006468

protein phosphorylation

14585963

TgenePDPK1

GO:0006469

negative regulation of protein kinase activity

9373175

TgenePDPK1

GO:0018107

peptidyl-threonine phosphorylation

9368760

TgenePDPK1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

17327236

TgenePDPK1

GO:0032148

activation of protein kinase B activity

9368760

TgenePDPK1

GO:0035556

intracellular signal transduction

14749367

TgenePDPK1

GO:0051281

positive regulation of release of sequestered calcium ion into cytosol

22454520



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
ChimerDB4KIRCTCGA-B0-5692-01AFBXO7chr22

32883815

+PDPK1chr16

2645794

+


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Fusion Gene ORF analysis for FBXO7-PDPK1

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-intronENST00000266087ENST00000268673FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000266087ENST00000354836FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000266087ENST00000389224FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000266087ENST00000441549FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000266087ENST00000471311FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000382058ENST00000268673FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000382058ENST00000354836FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000382058ENST00000389224FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000382058ENST00000441549FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000382058ENST00000471311FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000397426ENST00000268673FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000397426ENST00000354836FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000397426ENST00000389224FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000397426ENST00000441549FBXO7chr22

32883815

+PDPK1chr16

2645794

+
5CDS-intronENST00000397426ENST00000471311FBXO7chr22

32883815

+PDPK1chr16

2645794

+
Frame-shiftENST00000266087ENST00000342085FBXO7chr22

32883815

+PDPK1chr16

2645794

+
Frame-shiftENST00000382058ENST00000342085FBXO7chr22

32883815

+PDPK1chr16

2645794

+
Frame-shiftENST00000397426ENST00000342085FBXO7chr22

32883815

+PDPK1chr16

2645794

+
intron-3CDSENST00000465418ENST00000342085FBXO7chr22

32883815

+PDPK1chr16

2645794

+
intron-intronENST00000465418ENST00000268673FBXO7chr22

32883815

+PDPK1chr16

2645794

+
intron-intronENST00000465418ENST00000354836FBXO7chr22

32883815

+PDPK1chr16

2645794

+
intron-intronENST00000465418ENST00000389224FBXO7chr22

32883815

+PDPK1chr16

2645794

+
intron-intronENST00000465418ENST00000441549FBXO7chr22

32883815

+PDPK1chr16

2645794

+
intron-intronENST00000465418ENST00000471311FBXO7chr22

32883815

+PDPK1chr16

2645794

+

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 FBXO7-PDPK1


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)
FBXO7chr2232883815+PDPK1chr162645793+0.0003131180.99968696
FBXO7chr2232883815+PDPK1chr162645793+0.0003131180.99968696


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.
genomic feature of top 1%

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Fusion Protein Features for FBXO7-PDPK1


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/:32883815/:2645794)
- 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 FBXO7-PDPK1


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 FBXO7-PDPK1


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 FBXO7-PDPK1


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 FBXO7-PDPK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBXO7C1850100PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFBXO7C0013421Dystonia1GENOMICS_ENGLAND
HgeneFBXO7C0752105Parkinsonism, Juvenile1GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast1CGI;CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0678222Breast Carcinoma1CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human