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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:ACAA2-MYO5B (FusionGDB2 ID:HG10449TG4645)

Fusion Gene Summary for ACAA2-MYO5B

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAA2-MYO5B
Fusion gene ID: hg10449tg4645
HgeneTgene
Gene symbol

ACAA2

MYO5B

Gene ID

10449

4645

Gene nameacetyl-CoA acyltransferase 2myosin VB
SynonymsDSAEC-
Cytomap('ACAA2')('MYO5B')

18q21.1

18q21.1

Type of geneprotein-codingprotein-coding
Description3-ketoacyl-CoA thiolase, mitochondrialT1acetyl-CoA acetyltransferaseacetyl-Coenzyme A acyltransferase 2acyl-CoA hydrolase, mitochondrialbeta ketothiolasemitochondrial 3-oxoacyl-CoA thiolasemitochondrial 3-oxoacyl-Coenzyme A thiolaseunconventional myosin-VbMYO5B variant proteinmyosin-Vb
Modification date2020031320200313
UniProtAcc

P42765

.
Ensembl transtripts involved in fusion geneENST00000285093, ENST00000587994, 
ENST00000589432, 
Fusion gene scores* DoF score3 X 4 X 3=3611 X 10 X 7=770
# samples 514
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(14/770*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACAA2 [Title/Abstract] AND MYO5B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACAA2(47339839)-MYO5B(47380017), # samples:3
Anticipated loss of major functional domain due to fusion event.ACAA2-MYO5B seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene 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
HgeneACAA2

GO:0071456

cellular response to hypoxia

18371312

HgeneACAA2

GO:1901029

negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway

18371312

HgeneACAA2

GO:1902109

negative regulation of mitochondrial membrane permeability involved in apoptotic process

18371312



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
ChimerDB4ESCATCGA-V5-A7RB-01AACAA2chr18

47310249

-MYO5Bchr18

47352993

-
ChimerDB4ESCATCGA-VR-AA4D-01AACAA2chr18

47339839

-MYO5Bchr18

47380017

-
ChimerDB4ESCATCGA-VR-AA4DACAA2chr18

47339838

-MYO5Bchr18

47380017

-
ChimerDB4ESCATCGA-VR-AA4DACAA2chr18

47339839

-MYO5Bchr18

47380017

-


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Fusion Gene ORF analysis for ACAA2-MYO5B

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-intronENST00000285093ENST00000587895ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
5CDS-intronENST00000285093ENST00000587895ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
5CDS-intronENST00000285093ENST00000592688ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
5CDS-intronENST00000285093ENST00000592688ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
Frame-shiftENST00000285093ENST00000285039ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
Frame-shiftENST00000285093ENST00000285039ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
Frame-shiftENST00000285093ENST00000324581ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
Frame-shiftENST00000285093ENST00000324581ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-3CDSENST00000285093ENST00000285039ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000285093ENST00000324581ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000285093ENST00000592688ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000587994ENST00000285039ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000587994ENST00000285039ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-3CDSENST00000587994ENST00000285039ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-3CDSENST00000587994ENST00000324581ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000587994ENST00000324581ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-3CDSENST00000587994ENST00000324581ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-3CDSENST00000587994ENST00000592688ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000589432ENST00000285039ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000589432ENST00000285039ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-3CDSENST00000589432ENST00000285039ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-3CDSENST00000589432ENST00000324581ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-3CDSENST00000589432ENST00000324581ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-3CDSENST00000589432ENST00000324581ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-3CDSENST00000589432ENST00000592688ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-intronENST00000285093ENST00000587895ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-intronENST00000587994ENST00000587895ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-intronENST00000587994ENST00000587895ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-intronENST00000587994ENST00000587895ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-intronENST00000587994ENST00000592688ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-intronENST00000587994ENST00000592688ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-intronENST00000589432ENST00000587895ACAA2chr18

47310249

-MYO5Bchr18

47352993

-
intron-intronENST00000589432ENST00000587895ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-intronENST00000589432ENST00000587895ACAA2chr18

47339838

-MYO5Bchr18

47380017

-
intron-intronENST00000589432ENST00000592688ACAA2chr18

47339839

-MYO5Bchr18

47380017

-
intron-intronENST00000589432ENST00000592688ACAA2chr18

47339838

-MYO5Bchr18

47380017

-

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 ACAA2-MYO5B


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 ACAA2-MYO5B


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/:47339839/:47380017)
- 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
ACAA2

P42765

.
FUNCTION: In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (Probable). Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies (Probable). Also displays hydrolase activity on various fatty acyl-CoAs (PubMed:25478839). Thereby, could be responsible for the production of acetate in a side reaction to beta-oxidation (Probable). Abolishes BNIP3-mediated apoptosis and mitochondrial damage (PubMed:18371312). {ECO:0000269|PubMed:18371312, ECO:0000269|PubMed:25478839, ECO:0000305|PubMed:25478839}.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 ACAA2-MYO5B


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 ACAA2-MYO5B


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 ACAA2-MYO5B


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 ACAA2-MYO5B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACAA2C0029408Degenerative polyarthritis1CTD_human
HgeneACAA2C0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneACAA2C0086743Osteoarthrosis Deformans1CTD_human
TgeneC0341306Microvillus inclusion disease7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0008370Cholestasis1GENOMICS_ENGLAND
TgeneC0011991Diarrhea1CTD_human
TgeneC0021831Intestinal Diseases1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0025521Inborn Errors of Metabolism1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC4551898Cholestasis, progressive familial intrahepatic 11ORPHANET