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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:ACACA-UBAP2L (FusionGDB2 ID:HG31TG9898)

Fusion Gene Summary for ACACA-UBAP2L

check button Fusion gene summary
Fusion gene informationFusion gene name: ACACA-UBAP2L
Fusion gene ID: hg31tg9898
HgeneTgene
Gene symbol

ACACA

UBAP2L

Gene ID

31

9898

Gene nameacetyl-CoA carboxylase alphaubiquitin associated protein 2 like
SynonymsACAC|ACACAD|ACC|ACC1|ACCANICE-4|NICE4
Cytomap('ACACA')('UBAP2L')

17q12

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionacetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alphaubiquitin-associated protein 2-likeprotein NICE-4
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000394406, ENST00000335166, 
ENST00000353139, ENST00000360679, 
ENST00000361253, ENST00000416895, 
ENST00000588142, ENST00000589665, 
Fusion gene scores* DoF score44 X 35 X 17=2618017 X 15 X 7=1785
# samples 5118
** MAII scorelog2(51/26180*10)=-5.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1785*10)=-3.30985526258679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACACA [Title/Abstract] AND UBAP2L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACACA(35715942)-UBAP2L(154209042), # 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


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
ChimerDB4STADTCGA-CD-5803-01AACACAchr17

35715942

-UBAP2Lchr1

154209042

+


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Fusion Gene ORF analysis for ACACA-UBAP2L

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
5UTR-3CDSENST00000394406ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
5UTR-3CDSENST00000394406ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
5UTR-3CDSENST00000394406ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
5UTR-3CDSENST00000394406ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
5UTR-intronENST00000394406ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000335166ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000335166ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000335166ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000335166ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000353139ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000353139ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000353139ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000353139ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000360679ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000360679ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000360679ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000360679ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000361253ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000361253ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000361253ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000361253ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000416895ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000416895ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000416895ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000416895ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000588142ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000588142ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000588142ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000588142ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000589665ENST00000271877ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000589665ENST00000343815ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000589665ENST00000361546ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-3CDSENST00000589665ENST00000428931ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-intronENST00000335166ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-intronENST00000353139ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-intronENST00000360679ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-intronENST00000361253ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-intronENST00000416895ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-intronENST00000588142ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+
intron-intronENST00000589665ENST00000484819ACACAchr17

35715942

-UBAP2Lchr1

154209042

+

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 ACACA-UBAP2L


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)
ACACAchr1735715941-UBAP2Lchr1154209041+2.90E-081
ACACAchr1735715941-UBAP2Lchr1154209041+2.90E-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 ACACA-UBAP2L


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/:35715942/:154209042)
- 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 ACACA-UBAP2L


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 ACACA-UBAP2L


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 ACACA-UBAP2L


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 ACACA-UBAP2L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACACAC0018801Heart failure1CTD_human
HgeneACACAC0018802Congestive heart failure1CTD_human
HgeneACACAC0023212Left-Sided Heart Failure1CTD_human
HgeneACACAC0235527Heart Failure, Right-Sided1CTD_human
HgeneACACAC1959583Myocardial Failure1CTD_human
HgeneACACAC1961112Heart Decompensation1CTD_human
HgeneACACAC2239176Liver carcinoma1CTD_human