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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:ACAD11-UBA5 (FusionGDB2 ID:HG84129TG79876)

Fusion Gene Summary for ACAD11-UBA5

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAD11-UBA5
Fusion gene ID: hg84129tg79876
HgeneTgene
Gene symbol

ACAD11

UBA5

Gene ID

84129

79876

Gene nameacyl-CoA dehydrogenase family member 11ubiquitin like modifier activating enzyme 5
SynonymsACAD-11EIEE44|SCAR24|THIFP1|UBE1DC1
Cytomap('ACAD11')('UBA5')

3q22.1

3q22.1

Type of geneprotein-codingprotein-coding
Descriptionacyl-CoA dehydrogenase family member 11acyl-Coenzyme A dehydrogenase family, member 11ubiquitin-like modifier-activating enzyme 5UBA5, ubiquitin-activating enzyme E1 homologUFM1-activating enzymeubiquitin-activating enzyme 5ubiquitin-activating enzyme E1 domain-containing protein 1ubiquitin-activating enzyme E1-domain containing 1
Modification date2020031320200313
UniProtAcc

Q709F0

.
Ensembl transtripts involved in fusion geneENST00000264990, ENST00000355458, 
ENST00000481970, ENST00000489991, 
ENST00000545291, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 4=64
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACAD11 [Title/Abstract] AND UBA5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACAD11(132378447)-UBA5(132389042), # 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
HgeneACAD11

GO:0033539

fatty acid beta-oxidation using acyl-CoA dehydrogenase

21237683

TgeneUBA5

GO:0034976

response to endoplasmic reticulum stress

23152784

TgeneUBA5

GO:0071569

protein ufmylation

15071506

TgeneUBA5

GO:1990592

protein K69-linked ufmylation

25219498



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
ChimerDB4KIRCTCGA-BP-5174-01AACAD11chr3

132378447

-UBA5chr3

132389042

+


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Fusion Gene ORF analysis for ACAD11-UBA5

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-intronENST00000264990ENST00000480955ACAD11chr3

132378447

-UBA5chr3

132389042

+
5CDS-intronENST00000355458ENST00000480955ACAD11chr3

132378447

-UBA5chr3

132389042

+
5CDS-intronENST00000481970ENST00000480955ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000489991ENST00000264991ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000489991ENST00000356232ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000489991ENST00000473651ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000489991ENST00000493720ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000489991ENST00000494238ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000545291ENST00000264991ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000545291ENST00000356232ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000545291ENST00000473651ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000545291ENST00000493720ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-3CDSENST00000545291ENST00000494238ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-intronENST00000489991ENST00000480955ACAD11chr3

132378447

-UBA5chr3

132389042

+
5UTR-intronENST00000545291ENST00000480955ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000264990ENST00000264991ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000264990ENST00000356232ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000264990ENST00000473651ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000264990ENST00000493720ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000264990ENST00000494238ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000355458ENST00000264991ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000355458ENST00000356232ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000355458ENST00000473651ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000355458ENST00000493720ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000355458ENST00000494238ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000481970ENST00000264991ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000481970ENST00000356232ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000481970ENST00000473651ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000481970ENST00000493720ACAD11chr3

132378447

-UBA5chr3

132389042

+
Frame-shiftENST00000481970ENST00000494238ACAD11chr3

132378447

-UBA5chr3

132389042

+

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 ACAD11-UBA5


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)
ACAD11chr3132378446-UBA5chr3132389041+0.0289997980.97100025
ACAD11chr3132378446-UBA5chr3132389041+0.0289997980.97100025


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 ACAD11-UBA5


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/:132378447/:132389042)
- 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
ACAD11

Q709F0

.
FUNCTION: Acyl-CoA dehydrogenase, that exhibits maximal activity towards saturated C22-CoA (PubMed:21237683). Probably participates in beta-oxydation and energy production but could also play a role in the metabolism of specific fatty acids to control fatty acids composition of cellular lipids in brain (Probable). {ECO:0000269|PubMed:21237683, ECO:0000305|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 ACAD11-UBA5


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 ACAD11-UBA5


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 ACAD11-UBA5


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 ACAD11-UBA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4310700EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 442CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0008370Cholestasis1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4310699SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 241GENOMICS_ENGLAND;UNIPROT