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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:ACADS-PRKAB1 (FusionGDB2 ID:HG35TG5564)

Fusion Gene Summary for ACADS-PRKAB1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACADS-PRKAB1
Fusion gene ID: hg35tg5564
HgeneTgene
Gene symbol

ACADS

PRKAB1

Gene ID

35

5564

Gene nameacyl-CoA dehydrogenase short chainprotein kinase AMP-activated non-catalytic subunit beta 1
SynonymsACAD3|SCADAMPK|HAMPKb
Cytomap('ACADS')('PRKAB1')

12q24.31

12q24.23

Type of geneprotein-codingprotein-coding
Descriptionshort-chain specific acyl-CoA dehydrogenase, mitochondrialacyl-CoA dehydrogenase, C-2 to C-3 short chainacyl-Coenzyme A dehydrogenase, C-2 to C-3 short chainbutyryl-CoA dehydrogenaseepididymis secretory sperm binding proteinmitochondrial short-chain 5'-AMP-activated protein kinase subunit beta-15'-AMP-activated protein kinase beta-1 subunitAMP-activated protein kinase beta subunitAMPK beta -1 chainAMPK beta 1AMPK subunit beta-1AMPKbprotein kinase, AMP-activated, beta 1 non-catalytic subunitpr
Modification date2020031320200313
UniProtAcc

P16219

.
Ensembl transtripts involved in fusion geneENST00000242592, ENST00000411593, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 3 X 2=12
# samples 43
** MAII scorelog2(4/4*10)=3.32192809488736log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACADS [Title/Abstract] AND PRKAB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACADS(121164992)-PRKAB1(120111769), # samples:2
Anticipated loss of major functional domain due to fusion event.ACADS-PRKAB1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACADS-PRKAB1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACADS-PRKAB1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ACADS-PRKAB1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ACADS-PRKAB1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneACADS

GO:0033539

fatty acid beta-oxidation using acyl-CoA dehydrogenase

3597357

TgenePRKAB1

GO:0006468

protein phosphorylation

17028174

TgenePRKAB1

GO:0010628

positive regulation of gene expression

17028174



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
ChimerDB4OVTCGA-24-0970-01BACADSchr12

121164992

+PRKAB1chr12

120111769

+
ChimerDB4OVTCGA-24-0970ACADSchr12

121164992

+PRKAB1chr12

120111768

+


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Fusion Gene ORF analysis for ACADS-PRKAB1

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-5UTRENST00000242592ENST00000540121ACADSchr12

121164992

+PRKAB1chr12

120111769

+
5CDS-5UTRENST00000242592ENST00000540121ACADSchr12

121164992

+PRKAB1chr12

120111768

+
5CDS-5UTRENST00000411593ENST00000540121ACADSchr12

121164992

+PRKAB1chr12

120111769

+
5CDS-5UTRENST00000411593ENST00000540121ACADSchr12

121164992

+PRKAB1chr12

120111768

+
5CDS-intronENST00000242592ENST00000537057ACADSchr12

121164992

+PRKAB1chr12

120111769

+
5CDS-intronENST00000242592ENST00000537057ACADSchr12

121164992

+PRKAB1chr12

120111768

+
5CDS-intronENST00000411593ENST00000537057ACADSchr12

121164992

+PRKAB1chr12

120111769

+
5CDS-intronENST00000411593ENST00000537057ACADSchr12

121164992

+PRKAB1chr12

120111768

+
Frame-shiftENST00000242592ENST00000229328ACADSchr12

121164992

+PRKAB1chr12

120111769

+
Frame-shiftENST00000242592ENST00000229328ACADSchr12

121164992

+PRKAB1chr12

120111768

+
Frame-shiftENST00000242592ENST00000541640ACADSchr12

121164992

+PRKAB1chr12

120111769

+
Frame-shiftENST00000242592ENST00000541640ACADSchr12

121164992

+PRKAB1chr12

120111768

+
Frame-shiftENST00000411593ENST00000229328ACADSchr12

121164992

+PRKAB1chr12

120111769

+
Frame-shiftENST00000411593ENST00000229328ACADSchr12

121164992

+PRKAB1chr12

120111768

+
Frame-shiftENST00000411593ENST00000541640ACADSchr12

121164992

+PRKAB1chr12

120111769

+
Frame-shiftENST00000411593ENST00000541640ACADSchr12

121164992

+PRKAB1chr12

120111768

+

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 ACADS-PRKAB1


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)
ACADSchr12121164992+PRKAB1chr12120111768+1.29E-081
ACADSchr12121164992+PRKAB1chr12120111768+1.29E-081
ACADSchr12121164992+PRKAB1chr12120111768+1.29E-081
ACADSchr12121164992+PRKAB1chr12120111768+1.29E-081


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%

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Fusion Protein Features for ACADS-PRKAB1


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/:121164992/:120111769)
- 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
ACADS

P16219

.
FUNCTION: Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among the different mitochondrial acyl-CoA dehydrogenases, short-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 4 to 6 carbons long primary chains (PubMed:21237683, PubMed:11134486). {ECO:0000250|UniProtKB:P15651, ECO:0000269|PubMed:11134486, ECO:0000269|PubMed:21237683}.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 ACADS-PRKAB1


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 ACADS-PRKAB1


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 ACADS-PRKAB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACADSP16219DB03147Flavin adenine dinucleotideSmall moleculeApproved
HgeneACADSP16219DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for ACADS-PRKAB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACADSC0342783Deficiency of butyryl-CoA dehydrogenase11CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACADSC0005586Bipolar Disorder1PSYGENET
HgeneACADSC0018801Heart failure1CTD_human
HgeneACADSC0018802Congestive heart failure1CTD_human
HgeneACADSC0023212Left-Sided Heart Failure1CTD_human
HgeneACADSC0235527Heart Failure, Right-Sided1CTD_human
HgeneACADSC1959583Myocardial Failure1CTD_human
HgeneACADSC1961112Heart Decompensation1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human