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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:AGTPBP1-JUN (FusionGDB2 ID:HG23287TG3725)

Fusion Gene Summary for AGTPBP1-JUN

check button Fusion gene summary
Fusion gene informationFusion gene name: AGTPBP1-JUN
Fusion gene ID: hg23287tg3725
HgeneTgene
Gene symbol

AGTPBP1

JUN

Gene ID

23287

3725

Gene nameATP/GTP binding protein 1Jun proto-oncogene, AP-1 transcription factor subunit
SynonymsCCP1|CONDCA|NNA1AP-1|AP1|c-Jun|cJUN|p39
Cytomap('AGTPBP1')('JUN')

9q21.33

1p32.1

Type of geneprotein-codingprotein-coding
Descriptioncytosolic carboxypeptidase 1carboxypeptidase-tubulinnervous system nuclear protein induced by axotomy protein 1 homologsoluble carboxypeptidasetubulinyl-Tyr carboxypeptidasetyrosine carboxypeptidasetranscription factor AP-1Jun activation domain binding proteinactivator protein 1enhancer-binding protein AP1jun oncogeneproto-oncogene c-Junproto-oncogene cJunv-jun avian sarcoma virus 17 oncogene homologv-jun sarcoma virus 17 oncogene homolog
Modification date2020031320200313
UniProtAcc.

P05412

Ensembl transtripts involved in fusion geneENST00000337006, ENST00000357081, 
ENST00000376080, ENST00000376081, 
ENST00000376083, ENST00000376109, 
ENST00000432218, ENST00000491784, 
Fusion gene scores* DoF score15 X 12 X 4=7206 X 6 X 2=72
# samples 156
** MAII scorelog2(15/720*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGTPBP1 [Title/Abstract] AND JUN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGTPBP1(88240840)-JUN(59246460), # 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
TgeneJUN

GO:0007179

transforming growth factor beta receptor signaling pathway

9732876

TgeneJUN

GO:0007265

Ras protein signal transduction

24623306

TgeneJUN

GO:0043392

negative regulation of DNA binding

14645924

TgeneJUN

GO:0043922

negative regulation by host of viral transcription

2833704

TgeneJUN

GO:0043923

positive regulation by host of viral transcription

2833704

TgeneJUN

GO:0045892

negative regulation of transcription, DNA-templated

2833704

TgeneJUN

GO:0045893

positive regulation of transcription, DNA-templated

2833704|9732876|22083952

TgeneJUN

GO:0045944

positive regulation of transcription by RNA polymerase II

2833704|10508860|12490281|19861239

TgeneJUN

GO:0060395

SMAD protein signal transduction

9732876

TgeneJUN

GO:2000144

positive regulation of DNA-templated transcription, initiation

23027619



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


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Fusion Gene ORF analysis for AGTPBP1-JUN

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

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 AGTPBP1-JUN


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 AGTPBP1-JUN


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/:88240840/:59246460)
- 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
.JUN

P05412

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: Transcription factor that recognizes and binds to the enhancer heptamer motif 5'-TGA[CG]TCA-3' (PubMed:10995748, PubMed:22083952). Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation (PubMed:17210646). Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the USP28 promoter in colorectal cancer (CRC) cells (PubMed:24623306). {ECO:0000269|PubMed:10995748, ECO:0000269|PubMed:17210646, ECO:0000269|PubMed:22083952, ECO:0000269|PubMed:24623306}.

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 AGTPBP1-JUN


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 AGTPBP1-JUN


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 AGTPBP1-JUN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneJUNP05412DB00210AdapaleneAntagonistSmall moleculeApproved
TgeneJUNP05412DB00570VinblastineOther/unknownSmall moleculeApproved
TgeneJUNP05412DB01029IrbesartanOther/unknownSmall moleculeApproved|Investigational
TgeneJUNP05412DB01169Arsenic trioxideInducerSmall moleculeApproved|Investigational

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Related Diseases for AGTPBP1-JUN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGTPBP1C0027746Nerve Degeneration1CTD_human
HgeneAGTPBP1C4748934NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY1GENOMICS_ENGLAND;UNIPROT
TgeneC0007102Malignant tumor of colon2CTD_human
TgeneC0007621Neoplastic Cell Transformation2CTD_human
TgeneC0009375Colonic Neoplasms2CTD_human
TgeneC0023903Liver neoplasms2CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0345904Malignant neoplasm of liver2CTD_human
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0018923Hemangiosarcoma1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0021846Intestinal Polyps1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0029463Osteosarcoma1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0037116Silicosis1CTD_human
TgeneC0038220Status Epilepticus1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0086626Minamata Disease1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0270823Petit mal status1CTD_human
TgeneC0274859Inorganic Mercury Poisoning1CTD_human
TgeneC0274860Mercury Poisoning, Organic1CTD_human
TgeneC0311335Grand Mal Status Epilepticus1CTD_human
TgeneC0393734Complex Partial Status Epilepticus1CTD_human
TgeneC0546127Mercury Poisoning, Nervous System1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0751522Status Epilepticus, Subclinical1CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneC0751524Simple Partial Status Epilepticus1CTD_human
TgeneC0751855Mercury Encephalopathy1CTD_human
TgeneC0751856Mad Hatter Disease1CTD_human
TgeneC0751857Mercurial Neuroanesthenia1CTD_human
TgeneC0751858Mercury Psychosis1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human