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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:AP1G1-PMFBP1 (FusionGDB2 ID:HG164TG83449)

Fusion Gene Summary for AP1G1-PMFBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: AP1G1-PMFBP1
Fusion gene ID: hg164tg83449
HgeneTgene
Gene symbol

AP1G1

PMFBP1

Gene ID

164

83449

Gene nameadaptor related protein complex 1 subunit gamma 1polyamine modulated factor 1 binding protein 1
SynonymsADTG|CLAPG1SPGF31|STAP
Cytomap('AP1G1')('PMFBP1')

16q22.2

16q22.2

Type of geneprotein-codingprotein-coding
DescriptionAP-1 complex subunit gamma-1adapter-related protein complex 1 subunit gamma-1adaptor protein complex AP-1 subunit gamma-1adaptor related protein complex 1 gamma 1 subunitclathrin assembly protein complex 1 gamma large chainclathrin assembly protein cpolyamine-modulated factor 1-binding protein 1PMF-1 binding protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000299980, ENST00000393512, 
ENST00000423132, ENST00000433195, 
ENST00000569748, ENST00000564155, 
ENST00000570297, 
Fusion gene scores* DoF score10 X 8 X 6=4804 X 4 X 6=96
# samples 107
** MAII scorelog2(10/480*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/96*10)=-0.45567948377619
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP1G1 [Title/Abstract] AND PMFBP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP1G1(71803526)-PMFBP1(72188358), # samples:3
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


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
ChimerDB4LIHCTCGA-DD-A73C-01AAP1G1chr16

71803526

-PMFBP1chr16

72188358

-


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Fusion Gene ORF analysis for AP1G1-PMFBP1

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-5UTRENST00000299980ENST00000355636AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000299980ENST00000543746AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000393512ENST00000355636AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000393512ENST00000543746AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000423132ENST00000355636AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000423132ENST00000543746AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000433195ENST00000355636AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000433195ENST00000543746AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000569748ENST00000355636AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-5UTRENST00000569748ENST00000543746AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000299980ENST00000237353AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000299980ENST00000537465AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000299980ENST00000537792AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000393512ENST00000237353AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000393512ENST00000537465AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000393512ENST00000537792AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000423132ENST00000237353AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000423132ENST00000537465AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000423132ENST00000537792AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000433195ENST00000237353AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000433195ENST00000537465AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000433195ENST00000537792AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000569748ENST00000237353AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000569748ENST00000537465AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
5CDS-intronENST00000569748ENST00000537792AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-5UTRENST00000564155ENST00000355636AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-5UTRENST00000564155ENST00000543746AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-5UTRENST00000570297ENST00000355636AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-5UTRENST00000570297ENST00000543746AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-intronENST00000564155ENST00000237353AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-intronENST00000564155ENST00000537465AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-intronENST00000564155ENST00000537792AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-intronENST00000570297ENST00000237353AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-intronENST00000570297ENST00000537465AP1G1chr16

71803526

-PMFBP1chr16

72188358

-
intron-intronENST00000570297ENST00000537792AP1G1chr16

71803526

-PMFBP1chr16

72188358

-

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 AP1G1-PMFBP1


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 AP1G1-PMFBP1


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/:71803526/:72188358)
- 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 AP1G1-PMFBP1


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 AP1G1-PMFBP1


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 AP1G1-PMFBP1


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 AP1G1-PMFBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4310674SPERMATOGENIC FAILURE 161ORPHANET
TgeneC4748234SPERMATOGENIC FAILURE 311ORPHANET