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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:ADRB2-RAPGEF4 (FusionGDB2 ID:HG154TG11069)

Fusion Gene Summary for ADRB2-RAPGEF4

check button Fusion gene summary
Fusion gene informationFusion gene name: ADRB2-RAPGEF4
Fusion gene ID: hg154tg11069
HgeneTgene
Gene symbol

ADRB2

RAPGEF4

Gene ID

154

11069

Gene nameadrenoceptor beta 2Rap guanine nucleotide exchange factor 4
SynonymsADRB2R|ADRBR|B2AR|BAR|BETA2ARCAMP-GEFII|CGEF2|EPAC|EPAC 2|EPAC2|Nbla00496
Cytomap('ADRB2')('RAPGEF4')

5q32

2q31.1

Type of geneprotein-codingprotein-coding
Descriptionbeta-2 adrenergic receptoradrenergic, beta-2-, receptor, surfaceadrenoceptor beta 2 surfacebeta-2 adrenoceptorbeta-2 adrenoreceptorcatecholamine receptorrap guanine nucleotide exchange factor 4RAP guanine-nucleotide-exchange factor (GEF) 4Rap guanine nucleotide exchange factor (GEF) 4cAMP-regulated guanine nucleotide exchange factor IIexchange factor directly activated by cAMP 2exchange protein direc
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000305988, 
Fusion gene scores* DoF score1 X 1 X 1=117 X 18 X 9=2754
# samples 119
** MAII scorelog2(1/1*10)=3.32192809488736log2(19/2754*10)=-3.85745723580402
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADRB2 [Title/Abstract] AND RAPGEF4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADRB2(148208197)-RAPGEF4(173736379), # 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
HgeneADRB2

GO:0002032

desensitization of G protein-coupled receptor signaling pathway by arrestin

15123695

HgeneADRB2

GO:0006898

receptor-mediated endocytosis

15123695

HgeneADRB2

GO:0007190

activation of adenylate cyclase activity

15123695

HgeneADRB2

GO:0043410

positive regulation of MAPK cascade

15123695

HgeneADRB2

GO:0071875

adrenergic receptor signaling pathway

19710023

HgeneADRB2

GO:1901098

positive regulation of autophagosome maturation

23708524

HgeneADRB2

GO:1904504

positive regulation of lipophagy

23708524



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 ADRB2-RAPGEF4

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 ADRB2-RAPGEF4


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 ADRB2-RAPGEF4


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/:148208197/:173736379)
- 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 ADRB2-RAPGEF4


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 ADRB2-RAPGEF4


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 ADRB2-RAPGEF4


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 ADRB2-RAPGEF4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADRB2C0040822Tremor4CTD_human
HgeneADRB2C0040827Saturnine Tremor4CTD_human
HgeneADRB2C0149840Senile Tremor4CTD_human
HgeneADRB2C0234370Persistent Tremor4CTD_human
HgeneADRB2C0234371Continuous Tremor4CTD_human
HgeneADRB2C0234372Intermittent Tremor4CTD_human
HgeneADRB2C0234373Fine Tremor4CTD_human
HgeneADRB2C0234374Coarse Tremor4CTD_human
HgeneADRB2C0234375Massive Tremor4CTD_human
HgeneADRB2C0234376Action Tremor4CTD_human
HgeneADRB2C0234377Passive Tremor4CTD_human
HgeneADRB2C0234378Static Tremor4CTD_human
HgeneADRB2C0234379Resting Tremor4CTD_human
HgeneADRB2C0234381Darkness Tremor4CTD_human
HgeneADRB2C0235078Tremor, Perioral4CTD_human
HgeneADRB2C0235081Tremor, Limb4CTD_human
HgeneADRB2C0235082Tremor, Muscle4CTD_human
HgeneADRB2C0235083Nerve Tremors4CTD_human
HgeneADRB2C0235843Tremor, Neonatal4CTD_human
HgeneADRB2C0751564Pill Rolling Tremor4CTD_human
HgeneADRB2C0751565Tremor, Semirhythmic4CTD_human
HgeneADRB2C1527384Involuntary Quiver4CTD_human
HgeneADRB2C0020621Hypokalemia3CTD_human
HgeneADRB2C0001849AIDS Dementia Complex1CTD_human
HgeneADRB2C0004352Autistic Disorder1CTD_human
HgeneADRB2C0005586Bipolar Disorder1PSYGENET
HgeneADRB2C0007193Cardiomyopathy, Dilated1CTD_human
HgeneADRB2C0016059Fibrosis1CTD_human
HgeneADRB2C0019693HIV Infections1CTD_human
HgeneADRB2C0020473Hyperlipidemia1CTD_human
HgeneADRB2C0021655Insulin Resistance1CTD_human
HgeneADRB2C0024115Lung diseases1CTD_human
HgeneADRB2C0024623Malignant neoplasm of stomach1CTD_human
HgeneADRB2C0027765nervous system disorder1CTD_human
HgeneADRB2C0028754Obesity1CTD_human
HgeneADRB2C0033141Cardiomyopathies, Primary1CTD_human
HgeneADRB2C0033578Prostatic Neoplasms1CTD_human
HgeneADRB2C0036529Myocardial Diseases, Secondary1CTD_human
HgeneADRB2C0038356Stomach Neoplasms1CTD_human
HgeneADRB2C0151744Myocardial Ischemia1CTD_human
HgeneADRB2C0206019HIV Encephalopathy1CTD_human
HgeneADRB2C0242698Ventricular Dysfunction, Left1CTD_human
HgeneADRB2C0243010Viral Encephalitis1CTD_human
HgeneADRB2C0376358Malignant neoplasm of prostate1CTD_human
HgeneADRB2C0878544Cardiomyopathies1CTD_human
HgeneADRB2C0920563Insulin Sensitivity1CTD_human
HgeneADRB2C0936243HIV-1-Associated Cognitive Motor Complex1CTD_human
HgeneADRB2C1449563Cardiomyopathy, Familial Idiopathic1CTD_human
HgeneADRB2C1623038Cirrhosis1CTD_human
HgeneADRB2C1706412Lipidemias1CTD_human
HgeneADRB2C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneADRB2C4505456HIV Coinfection1CTD_human