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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:ACOT7-NSMCE2 (FusionGDB2 ID:HG11332TG286053)

Fusion Gene Summary for ACOT7-NSMCE2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACOT7-NSMCE2
Fusion gene ID: hg11332tg286053
HgeneTgene
Gene symbol

ACOT7

NSMCE2

Gene ID

11332

286053

Gene nameacyl-CoA thioesterase 7NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
SynonymsACH1|ACT|BACH|CTE-II|LACH|LACH1|hBACHC8orf36|MMS21|NSE2|ZMIZ7
Cytomap('ACOT7')('NSMCE2')

1p36.31

8q24.13

Type of geneprotein-codingprotein-coding
Descriptioncytosolic acyl coenzyme A thioester hydrolaseCTE-IIaacyl-CoA thioesterase 2acyl-CoA thioesterase, long chainbrain acyl-CoA hydrolaselong chain acyl-CoA thioester hydrolaseE3 SUMO-protein ligase NSE2E3 SUMO-protein transferase NSE2NSMCE2/PVT1 fusionPVT1/NSMCE2 fusionmethyl methanesulfonate sensitivity gene 21non-SMC element 2, MMS21 homolognon-structural maintenance of chromosomes element 2 homologzinc finger, MIZ-ty
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000361521, ENST00000608083, 
ENST00000545482, ENST00000377842, 
ENST00000377845, ENST00000377855, 
ENST00000541130, 
Fusion gene scores* DoF score15 X 10 X 10=150017 X 14 X 10=2380
# samples 2024
** MAII scorelog2(20/1500*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/2380*10)=-3.30985526258679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACOT7 [Title/Abstract] AND NSMCE2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACOT7(6453317)-NSMCE2(126379010), # samples:3
Anticipated loss of major functional domain due to fusion event.ACOT7-NSMCE2 seems lost the major protein functional domain in Tgene partner, which is a essential 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
HgeneACOT7

GO:0015937

coenzyme A biosynthetic process

10578051

HgeneACOT7

GO:0036114

medium-chain fatty-acyl-CoA catabolic process

10578051

HgeneACOT7

GO:0036116

long-chain fatty-acyl-CoA catabolic process

10578051

HgeneACOT7

GO:0051792

medium-chain fatty acid biosynthetic process

10578051

HgeneACOT7

GO:1900535

palmitic acid biosynthetic process

10578051



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
ChimerDB4BRCATCGA-A2-A0T1-01AACOT7chr1

6453317

-NSMCE2chr8

126379010

+
ChimerDB4BRCATCGA-A2-A0T1ACOT7chr1

6453316

-NSMCE2chr8

126379009

+


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Fusion Gene ORF analysis for ACOT7-NSMCE2

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-3UTRENST00000361521ENST00000521460ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
5CDS-3UTRENST00000361521ENST00000521460ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
5CDS-3UTRENST00000608083ENST00000521460ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
5CDS-3UTRENST00000608083ENST00000521460ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
5UTR-3CDSENST00000545482ENST00000287437ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
5UTR-3CDSENST00000545482ENST00000287437ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
5UTR-3CDSENST00000545482ENST00000517315ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
5UTR-3CDSENST00000545482ENST00000517315ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
5UTR-3CDSENST00000545482ENST00000522563ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
5UTR-3CDSENST00000545482ENST00000522563ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
5UTR-3UTRENST00000545482ENST00000521460ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
5UTR-3UTRENST00000545482ENST00000521460ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
Frame-shiftENST00000361521ENST00000287437ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
Frame-shiftENST00000361521ENST00000287437ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
Frame-shiftENST00000361521ENST00000517315ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
Frame-shiftENST00000361521ENST00000517315ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
Frame-shiftENST00000361521ENST00000522563ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
Frame-shiftENST00000361521ENST00000522563ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
Frame-shiftENST00000608083ENST00000287437ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
Frame-shiftENST00000608083ENST00000287437ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
Frame-shiftENST00000608083ENST00000517315ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
Frame-shiftENST00000608083ENST00000517315ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
Frame-shiftENST00000608083ENST00000522563ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
Frame-shiftENST00000608083ENST00000522563ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377842ENST00000287437ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377842ENST00000287437ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377842ENST00000517315ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377842ENST00000517315ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377842ENST00000522563ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377842ENST00000522563ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377845ENST00000287437ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377845ENST00000287437ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377845ENST00000517315ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377845ENST00000517315ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377845ENST00000522563ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377845ENST00000522563ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377855ENST00000287437ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377855ENST00000287437ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377855ENST00000517315ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377855ENST00000517315ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000377855ENST00000522563ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000377855ENST00000522563ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000541130ENST00000287437ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000541130ENST00000287437ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000541130ENST00000517315ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000541130ENST00000517315ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3CDSENST00000541130ENST00000522563ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3CDSENST00000541130ENST00000522563ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3UTRENST00000377842ENST00000521460ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3UTRENST00000377842ENST00000521460ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3UTRENST00000377845ENST00000521460ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3UTRENST00000377845ENST00000521460ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3UTRENST00000377855ENST00000521460ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3UTRENST00000377855ENST00000521460ACOT7chr1

6453316

-NSMCE2chr8

126379009

+
intron-3UTRENST00000541130ENST00000521460ACOT7chr1

6453317

-NSMCE2chr8

126379010

+
intron-3UTRENST00000541130ENST00000521460ACOT7chr1

6453316

-NSMCE2chr8

126379009

+

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 ACOT7-NSMCE2


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)
ACOT7chr16453320-NSMCE2chr8126379009+2.84E-060.99999714
ACOT7chr16453320-NSMCE2chr8126379009+2.84E-060.99999714
ACOT7chr16453320-NSMCE2chr8126379009+2.84E-060.99999714
ACOT7chr16453320-NSMCE2chr8126379009+2.84E-060.99999714


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 ACOT7-NSMCE2


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/:6453317/:126379010)
- 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 ACOT7-NSMCE2


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 ACOT7-NSMCE2


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 ACOT7-NSMCE2


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 ACOT7-NSMCE2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4310647SECKEL SYNDROME 101GENOMICS_ENGLAND