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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-HTRA4 (FusionGDB2 ID:HG31TG203100)

Fusion Gene Summary for ACACA-HTRA4

check button Fusion gene summary
Fusion gene informationFusion gene name: ACACA-HTRA4
Fusion gene ID: hg31tg203100
HgeneTgene
Gene symbol

ACACA

HTRA4

Gene ID

31

203100

Gene nameacetyl-CoA carboxylase alphaHtrA serine peptidase 4
SynonymsACAC|ACACAD|ACC|ACC1|ACCA-
Cytomap('ACACA')('HTRA4')

17q12

8p11.22

Type of geneprotein-codingprotein-coding
Descriptionacetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alphaserine protease HTRA4high-temperature requirement factor A4probable serine protease HTRA4
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000353139, ENST00000416895, 
ENST00000394406, ENST00000588142, 
ENST00000335166, ENST00000360679, 
ENST00000361253, ENST00000589665, 
Fusion gene scores* DoF score44 X 35 X 17=261805 X 7 X 5=175
# samples 517
** MAII scorelog2(51/26180*10)=-5.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACACA [Title/Abstract] AND HTRA4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACACA(35687113)-HTRA4(38845455), # samples:3
Anticipated loss of major functional domain due to fusion event.ACACA-HTRA4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ACACA-HTRA4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ACACA-HTRA4 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACACA-HTRA4 seems lost the major protein functional domain in Hgene 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
TgeneHTRA4

GO:0006508

proteolysis

18387192


check buttonFusion gene breakpoints across ACACA (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across HTRA4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BLCATCGA-FJ-A3ZE-01AACACAchr17

35687113

-HTRA4chr8

38845455

+


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Fusion Gene ORF analysis for ACACA-HTRA4

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
Frame-shiftENST00000353139ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+
Frame-shiftENST00000416895ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+
In-frameENST00000394406ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+
In-frameENST00000588142ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+
intron-3CDSENST00000335166ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+
intron-3CDSENST00000360679ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+
intron-3CDSENST00000361253ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+
intron-3CDSENST00000589665ENST00000302495ACACAchr17

35687113

-HTRA4chr8

38845455

+

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)
ENST00000394406ACACAchr1735687113-ENST00000302495HTRA4chr838845455+1145418113580155
ENST00000588142ACACAchr1735687113-ENST00000302495HTRA4chr838845455+9542270389129

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
ENST00000394406ENST00000302495ACACAchr1735687113-HTRA4chr838845455+0.0097234750.9902766
ENST00000588142ENST00000302495ACACAchr1735687113-HTRA4chr838845455+0.0132287530.9867713

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Fusion Genomic Features for ACACA-HTRA4


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)
ACACAchr1735687112-HTRA4chr838845454+2.01E-081
ACACAchr1735687112-HTRA4chr838845454+2.01E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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-HTRA4


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/chr17:35687113/chr8:38845455)
- 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
HgeneACACAchr17:35687113chr8:38845455ENST00000335166-155117_61802269.0DomainBiotin carboxylation
HgeneACACAchr17:35687113chr8:38845455ENST00000335166-1551576_191402269.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000335166-1551918_223402269.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000335166-155275_46602269.0DomainATP-grasp
HgeneACACAchr17:35687113chr8:38845455ENST00000335166-155745_81902269.0DomainBiotinyl-binding
HgeneACACAchr17:35687113chr8:38845455ENST00000353139-356117_6181122384.0DomainBiotin carboxylation
HgeneACACAchr17:35687113chr8:38845455ENST00000353139-3561576_19141122384.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000353139-3561918_22341122384.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000353139-356275_4661122384.0DomainATP-grasp
HgeneACACAchr17:35687113chr8:38845455ENST00000353139-356745_8191122384.0DomainBiotinyl-binding
HgeneACACAchr17:35687113chr8:38845455ENST00000360679-154117_61802289.0DomainBiotin carboxylation
HgeneACACAchr17:35687113chr8:38845455ENST00000360679-1541576_191402289.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000360679-1541918_223402289.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000360679-154275_46602289.0DomainATP-grasp
HgeneACACAchr17:35687113chr8:38845455ENST00000360679-154745_81902289.0DomainBiotinyl-binding
HgeneACACAchr17:35687113chr8:38845455ENST00000394406-356117_618752347.0DomainBiotin carboxylation
HgeneACACAchr17:35687113chr8:38845455ENST00000394406-3561576_1914752347.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000394406-3561918_2234752347.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35687113chr8:38845455ENST00000394406-356275_466752347.0DomainATP-grasp
HgeneACACAchr17:35687113chr8:38845455ENST00000394406-356745_819752347.0DomainBiotinyl-binding
HgeneACACAchr17:35687113chr8:38845455ENST00000335166-155315_32002269.0Nucleotide bindingATP
HgeneACACAchr17:35687113chr8:38845455ENST00000353139-356315_3201122384.0Nucleotide bindingATP
HgeneACACAchr17:35687113chr8:38845455ENST00000360679-154315_32002289.0Nucleotide bindingATP
HgeneACACAchr17:35687113chr8:38845455ENST00000394406-356315_320752347.0Nucleotide bindingATP
HgeneACACAchr17:35687113chr8:38845455ENST00000335166-1551576_223402269.0RegionCarboxyltransferase
HgeneACACAchr17:35687113chr8:38845455ENST00000353139-3561576_22341122384.0RegionCarboxyltransferase
HgeneACACAchr17:35687113chr8:38845455ENST00000360679-1541576_223402289.0RegionCarboxyltransferase
HgeneACACAchr17:35687113chr8:38845455ENST00000394406-3561576_2234752347.0RegionCarboxyltransferase
TgeneHTRA4chr17:35687113chr8:38845455ENST000003024957936_99422477.0DomainIGFBP N-terminal
TgeneHTRA4chr17:35687113chr8:38845455ENST0000030249579383_474422477.0DomainPDZ
TgeneHTRA4chr17:35687113chr8:38845455ENST000003024957988_154422477.0DomainKazal-like
TgeneHTRA4chr17:35687113chr8:38845455ENST0000030249579202_362422477.0RegionNote=Serine protease


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Fusion Gene Sequence for ACACA-HTRA4


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.
>1155_1155_1_ACACA-HTRA4_ACACA_chr17_35687113_ENST00000394406_HTRA4_chr8_38845455_ENST00000302495_length(transcript)=1145nt_BP=418nt
CGGCCTGGTGCTGCACGCCTGTCAGCCATCGCCCGAGCCGCCGGCGTCTCCTCCCGCCCAGCAGTTCCTCCACGCAGGGGCTCCGGAATC
GCCCGACCGCACACGTTGCCACCCTGAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATT
TTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAG
ATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAG
ATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGCTCTGGATTGAGAGATCACGATGTAATTGTCA
ACATAAATGGGAAACCTATTACTACTACAACTGATGTTGTTAAAGCTCTTGACAGTGATTCCCTTTCCATGGCTGTTCTTCGGGGAAAAG
ATAATTTGCTCCTGACAGTCATACCTGAAACAATCAATTAAATATCTTGTTTTAAAGTGGGATTATCTAAAAAAAAAAAAACCAGTTATA
TCACGTGGTTTGTATTGGAGATGTGCCAAACATGGCAAGAAGTTTTTGGATCTTTTTCTTACAAAGAAAAATGGATGGTTATCAACCCAA
ATGCCCATCAATGACAGACTGGATAAAGCAAATGTGGTACATATACACCATGGAATACTATGCAGCCATAAAAAGCAACAGTCCTCTGCA
GGGACATGGATGGAGCTGGAAACCATTATCCTCAGCAAACTAACGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTATAAGTGGG
AGCTGAACAATGAGAACACATGAACATAGGGAGGGGAACAACACACACTGGGGCCTGGCAGTGGGTAGGGTAGAGGGAGGGAGAGCATTA
GCAAAAATAGCTAATGCATGCTGGGCTTAACACCCAGGTGATGGGTTGATTGATAGGTGCAGCAAACCATCATGGCACACATTTACCTAT

>1155_1155_1_ACACA-HTRA4_ACACA_chr17_35687113_ENST00000394406_HTRA4_chr8_38845455_ENST00000302495_length(amino acids)=155AA_BP=101
MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI

--------------------------------------------------------------
>1155_1155_2_ACACA-HTRA4_ACACA_chr17_35687113_ENST00000588142_HTRA4_chr8_38845455_ENST00000302495_length(transcript)=954nt_BP=227nt
ATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAGATAACTCAGAG
GATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCT
GATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGCTCTGGATTGAGAGATCACGATGTAATTGTCAACATAAATGGG
AAACCTATTACTACTACAACTGATGTTGTTAAAGCTCTTGACAGTGATTCCCTTTCCATGGCTGTTCTTCGGGGAAAAGATAATTTGCTC
CTGACAGTCATACCTGAAACAATCAATTAAATATCTTGTTTTAAAGTGGGATTATCTAAAAAAAAAAAAACCAGTTATATCACGTGGTTT
GTATTGGAGATGTGCCAAACATGGCAAGAAGTTTTTGGATCTTTTTCTTACAAAGAAAAATGGATGGTTATCAACCCAAATGCCCATCAA
TGACAGACTGGATAAAGCAAATGTGGTACATATACACCATGGAATACTATGCAGCCATAAAAAGCAACAGTCCTCTGCAGGGACATGGAT
GGAGCTGGAAACCATTATCCTCAGCAAACTAACGCAGGAACAGAAAACCAAATACTGCATGTTCTCACTTATAAGTGGGAGCTGAACAAT
GAGAACACATGAACATAGGGAGGGGAACAACACACACTGGGGCCTGGCAGTGGGTAGGGTAGAGGGAGGGAGAGCATTAGCAAAAATAGC
TAATGCATGCTGGGCTTAACACCCAGGTGATGGGTTGATTGATAGGTGCAGCAAACCATCATGGCACACATTTACCTATGAAACAAACCT

>1155_1155_2_ACACA-HTRA4_ACACA_chr17_35687113_ENST00000588142_HTRA4_chr8_38845455_ENST00000302495_length(amino acids)=129AA_BP=75
MDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGISSLQDGLALHISSGLRDHDVIVNING

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ACACA-HTRA4


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-HTRA4


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-HTRA4


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