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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:APEX1-GBF1 (FusionGDB2 ID:HG328TG8729)

Fusion Gene Summary for APEX1-GBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: APEX1-GBF1
Fusion gene ID: hg328tg8729
HgeneTgene
Gene symbol

APEX1

GBF1

Gene ID

328

8729

Gene nameapurinic/apyrimidinic endodeoxyribonuclease 1golgi brefeldin A resistant guanine nucleotide exchange factor 1
SynonymsAPE|APE1|APEN|APEX|APX|HAP1|REF1ARF1GEF
Cytomap('APEX1')('GBF1')

14q11.2

10q24.32

Type of geneprotein-codingprotein-coding
DescriptionDNA-(apurinic or apyrimidinic site) lyaseAP endonuclease class IAP lyaseAPEX nuclease (multifunctional DNA repair enzyme) 1apurinic-apyrimidinic endonuclease 1apurinic/apyrimidinic (abasic) endonucleasedeoxyribonuclease (apurinic or apyrimidinic)prGolgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1BFA-resistant GEF 1
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000557365, ENST00000216714, 
ENST00000398030, ENST00000555414, 
ENST00000557054, 
Fusion gene scores* DoF score3 X 4 X 2=2412 X 12 X 4=576
# samples 412
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APEX1 [Title/Abstract] AND GBF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPEX1(20924123)-GBF1(104136765), # samples:1
Anticipated loss of major functional domain due to fusion event.APEX1-GBF1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
APEX1-GBF1 seems lost the major protein functional domain in Tgene partner, which is a essential 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
HgeneAPEX1

GO:0000723

telomere maintenance

24703901

HgeneAPEX1

GO:0006281

DNA repair

9560228

HgeneAPEX1

GO:0006284

base-excision repair

8932386

HgeneAPEX1

GO:0042981

regulation of apoptotic process

19934257

HgeneAPEX1

GO:0080111

DNA demethylation

21496894

HgeneAPEX1

GO:0097698

telomere maintenance via base-excision repair

24703901



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABF806154APEX1chr14

20924123

+GBF1chr10

104136765

+


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Fusion Gene ORF analysis for APEX1-GBF1

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-3CDSENST00000557365ENST00000369983APEX1chr14

20924123

+GBF1chr10

104136765

+
3UTR-intronENST00000557365ENST00000476019APEX1chr14

20924123

+GBF1chr10

104136765

+
5CDS-intronENST00000216714ENST00000476019APEX1chr14

20924123

+GBF1chr10

104136765

+
5CDS-intronENST00000398030ENST00000476019APEX1chr14

20924123

+GBF1chr10

104136765

+
5CDS-intronENST00000555414ENST00000476019APEX1chr14

20924123

+GBF1chr10

104136765

+
Frame-shiftENST00000216714ENST00000369983APEX1chr14

20924123

+GBF1chr10

104136765

+
Frame-shiftENST00000398030ENST00000369983APEX1chr14

20924123

+GBF1chr10

104136765

+
Frame-shiftENST00000555414ENST00000369983APEX1chr14

20924123

+GBF1chr10

104136765

+
intron-3CDSENST00000557054ENST00000369983APEX1chr14

20924123

+GBF1chr10

104136765

+
intron-intronENST00000557054ENST00000476019APEX1chr14

20924123

+GBF1chr10

104136765

+

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 APEX1-GBF1


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 APEX1-GBF1


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/:20924123/:104136765)
- 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 APEX1-GBF1


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 APEX1-GBF1


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 APEX1-GBF1


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 APEX1-GBF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPEX1C0033578Prostatic Neoplasms2CTD_human
HgeneAPEX1C0376358Malignant neoplasm of prostate2CTD_human
HgeneAPEX1C0018799Heart Diseases1CTD_human
HgeneAPEX1C0022333Jacksonian Seizure1CTD_human
HgeneAPEX1C0024623Malignant neoplasm of stomach1CTD_human
HgeneAPEX1C0025202melanoma1CTD_human
HgeneAPEX1C0036572Seizures1CTD_human
HgeneAPEX1C0038356Stomach Neoplasms1CTD_human
HgeneAPEX1C0149958Complex partial seizures1CTD_human
HgeneAPEX1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneAPEX1C0234533Generalized seizures1CTD_human
HgeneAPEX1C0234535Clonic Seizures1CTD_human
HgeneAPEX1C0235874Disease Exacerbation1CTD_human
HgeneAPEX1C0270824Visual seizure1CTD_human
HgeneAPEX1C0270844Tonic Seizures1CTD_human
HgeneAPEX1C0270846Epileptic drop attack1CTD_human
HgeneAPEX1C0422850Seizures, Somatosensory1CTD_human
HgeneAPEX1C0422852Seizures, Auditory1CTD_human
HgeneAPEX1C0422853Olfactory seizure1CTD_human
HgeneAPEX1C0422854Gustatory seizure1CTD_human
HgeneAPEX1C0422855Vertiginous seizure1CTD_human
HgeneAPEX1C0494475Tonic - clonic seizures1CTD_human
HgeneAPEX1C0751056Non-epileptic convulsion1CTD_human
HgeneAPEX1C0751110Single Seizure1CTD_human
HgeneAPEX1C0751123Atonic Absence Seizures1CTD_human
HgeneAPEX1C0751494Convulsive Seizures1CTD_human
HgeneAPEX1C0751495Seizures, Focal1CTD_human
HgeneAPEX1C0751496Seizures, Sensory1CTD_human
HgeneAPEX1C1449861Micronuclei, Chromosome-Defective1CTD_human
HgeneAPEX1C1449862Micronuclei, Genotoxicant-Induced1CTD_human
HgeneAPEX1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneAPEX1C2239176Liver carcinoma1CTD_human
HgeneAPEX1C3495874Nonepileptic Seizures1CTD_human
HgeneAPEX1C4048158Convulsions1CTD_human
HgeneAPEX1C4316903Absence Seizures1CTD_human
HgeneAPEX1C4317109Epileptic Seizures1CTD_human
HgeneAPEX1C4317123Myoclonic Seizures1CTD_human
HgeneAPEX1C4505436Generalized Absence Seizures1CTD_human