Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ATP5G1-KPNB1 (FusionGDB2 ID:HG516TG3837)

Fusion Gene Summary for ATP5G1-KPNB1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP5G1-KPNB1
Fusion gene ID: hg516tg3837
HgeneTgene
Gene symbol

ATP5G1

KPNB1

Gene ID

516

3837

Gene nameATP synthase membrane subunit c locus 1karyopherin subunit beta 1
SynonymsATP5A|ATP5G|ATP5G1IMB1|IPO1|IPOB|Impnb|NTF97
Cytomap('ATP5G1')('KPNB1')

17q21.32

17q21.32

Type of geneprotein-codingprotein-coding
DescriptionATP synthase F(0) complex subunit C1, mitochondrialATP synthase lipid-binding protein, mitochondrialATP synthase proteolipid P1ATP synthase proton-transporting mitochondrial F(0) complex subunit C1ATP synthase subunit 9ATP synthase, H+ transporting, importin subunit beta-1PTAC97importin 1importin 90importin beta-1 subunitkaryopherin (importin) beta 1nuclear factor p97pore targeting complex 97 kDa subunit
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000513781, ENST00000355938, 
ENST00000393366, ENST00000503641, 
ENST00000506855, ENST00000514808, 
Fusion gene scores* DoF score11 X 8 X 5=44014 X 17 X 8=1904
# samples 1117
** MAII scorelog2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1904*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP5G1 [Title/Abstract] AND KPNB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP5G1(46972696)-KPNB1(45753775), # samples:2
Anticipated loss of major functional domain due to fusion event.ATP5G1-KPNB1 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
TgeneKPNB1

GO:0006606

protein import into nucleus

7615630|15964792

TgeneKPNB1

GO:0006610

ribosomal protein import into nucleus

9687515



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
ChimerDB4UCSTCGA-N5-A4RA-01AATP5G1chr17

46972696

+KPNB1chr17

45753775

+
ChimerDB4UCSTCGA-N5-A4RAATP5G1chr17

46972696

+KPNB1chr17

45753775

+


Top

Fusion Gene ORF analysis for ATP5G1-KPNB1

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
3UTR-3CDSENST00000513781ENST00000290158ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
3UTR-3CDSENST00000513781ENST00000535458ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
3UTR-3CDSENST00000513781ENST00000537679ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
3UTR-3CDSENST00000513781ENST00000540627ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
3UTR-intronENST00000513781ENST00000577918ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
5CDS-intronENST00000355938ENST00000577918ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
5CDS-intronENST00000393366ENST00000577918ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
5CDS-intronENST00000503641ENST00000577918ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
5CDS-intronENST00000506855ENST00000577918ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
5CDS-intronENST00000514808ENST00000577918ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000355938ENST00000290158ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000355938ENST00000535458ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000355938ENST00000537679ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000355938ENST00000540627ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000393366ENST00000290158ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000393366ENST00000535458ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000393366ENST00000537679ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000393366ENST00000540627ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000503641ENST00000290158ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000503641ENST00000535458ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000503641ENST00000537679ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000503641ENST00000540627ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000506855ENST00000290158ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000506855ENST00000535458ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000506855ENST00000537679ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000506855ENST00000540627ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000514808ENST00000290158ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000514808ENST00000535458ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000514808ENST00000537679ATP5G1chr17

46972696

+KPNB1chr17

45753775

+
Frame-shiftENST00000514808ENST00000540627ATP5G1chr17

46972696

+KPNB1chr17

45753775

+

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

Top

Fusion Genomic Features for ATP5G1-KPNB1


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)
ATP5G1chr1746972696+KPNB1chr1745753774+4.87E-050.99995136
ATP5G1chr1746972696+KPNB1chr1745753774+4.87E-050.99995136
ATP5G1chr1746972696+KPNB1chr1745753774+4.87E-050.99995136
ATP5G1chr1746972696+KPNB1chr1745753774+4.87E-050.99995136


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%

Top

Fusion Protein Features for ATP5G1-KPNB1


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/:46972696/:45753775)
- 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


Top

Fusion Gene Sequence for ATP5G1-KPNB1


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.

Top

Fusion Gene PPI Analysis for ATP5G1-KPNB1


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


Top

Related Drugs for ATP5G1-KPNB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ATP5G1-KPNB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0019693HIV Infections1CTD_human
TgeneC4505456HIV Coinfection1CTD_human
TgeneC4721610Carcinoma, Ovarian Epithelial1CTD_human