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in Kim Lab

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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-PPM1E (FusionGDB2 ID:HG31TG22843)

Fusion Gene Summary for ACACA-PPM1E

check button Fusion gene summary
Fusion gene informationFusion gene name: ACACA-PPM1E
Fusion gene ID: hg31tg22843
HgeneTgene
Gene symbol

ACACA

PPM1E

Gene ID

31

22843

Gene nameacetyl-CoA carboxylase alphaprotein phosphatase, Mg2+/Mn2+ dependent 1E
SynonymsACAC|ACACAD|ACC|ACC1|ACCACaMKP-N|POPX1|PP2CH|caMKN
Cytomap('ACACA')('PPM1E')

17q12

17q22

Type of geneprotein-codingprotein-coding
Descriptionacetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alphaprotein phosphatase 1Eca(2+)/calmodulin-dependent protein kinase phosphatase NcaMKP-nucleusnuclear calmodulin-dependent protein kinase phosphatasepartner of PIX 1partner of PIX-alphapartner of PIXAprotein phosphatase 1E (PP2C domain containing)
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000335166, ENST00000394406, 
ENST00000353139, ENST00000360679, 
ENST00000361253, ENST00000416895, 
ENST00000588142, ENST00000589665, 
Fusion gene scores* DoF score44 X 35 X 17=2618011 X 7 X 4=308
# samples 5110
** MAII scorelog2(51/26180*10)=-5.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/308*10)=-1.62293035092018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACACA [Title/Abstract] AND PPM1E [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACACA(35614625)-PPM1E(57033010), # samples:1
Anticipated loss of major functional domain due to fusion event.ACACA-PPM1E 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-PPM1E 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-PPM1E 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-PPM1E 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-PPM1E seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACACA-PPM1E seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACACA-PPM1E 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
TgenePPM1E

GO:0006469

negative regulation of protein kinase activity

11864573

TgenePPM1E

GO:0035690

cellular response to drug

20801214

TgenePPM1E

GO:0035970

peptidyl-threonine dephosphorylation

20801214

TgenePPM1E

GO:0051496

positive regulation of stress fiber assembly

11864573


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 PPM1E (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
ChimerDB4STADTCGA-BR-8080-01AACACAchr17

35614625

-PPM1Echr17

57033010

+


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Fusion Gene ORF analysis for ACACA-PPM1E

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-shiftENST00000335166ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+
Frame-shiftENST00000394406ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+
In-frameENST00000353139ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+
In-frameENST00000360679ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+
intron-3CDSENST00000361253ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+
intron-3CDSENST00000416895ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+
intron-3CDSENST00000588142ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+
intron-3CDSENST00000589665ENST00000308249ACACAchr17

35614625

-PPM1Echr17

57033010

+

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)
ENST00000353139ACACAchr1735614625-ENST00000308249PPM1Echr1757033010+4703230846141111216
ENST00000360679ACACAchr1735614625-ENST00000308249PPM1Echr1757033010+4371197629737791160

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
ENST00000353139ENST00000308249ACACAchr1735614625-PPM1Echr1757033010+0.0016990440.99830097
ENST00000360679ENST00000308249ACACAchr1735614625-PPM1Echr1757033010+0.0016431780.99835676

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Fusion Genomic Features for ACACA-PPM1E


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)
ACACAchr1735614624-PPM1Echr1757033009+7.88E-101
ACACAchr1735614624-PPM1Echr1757033009+7.88E-101

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-PPM1E


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/chr17:35614625/chr17:57033010)
- 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
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355275_4664932269.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456275_4666082384.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254275_4665132289.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456275_4665712347.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355315_3204932269.0Nucleotide bindingATP
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456315_3206082384.0Nucleotide bindingATP
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254315_3205132289.0Nucleotide bindingATP
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456315_3205712347.0Nucleotide bindingATP
TgenePPM1Echr17:35614625chr17:57033010ENST0000030824907231_488154756.0DomainPPM-type phosphatase

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355117_6184932269.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-13551576_19144932269.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-13551918_22344932269.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355745_8194932269.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456117_6186082384.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-14561576_19146082384.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-14561918_22346082384.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456745_8196082384.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254117_6185132289.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-12541576_19145132289.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-12541918_22345132289.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254745_8195132289.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456117_6185712347.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-14561576_19145712347.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-14561918_22345712347.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456745_8195712347.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-13551576_22344932269.0RegionCarboxyltransferase
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-14561576_22346082384.0RegionCarboxyltransferase
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-12541576_22345132289.0RegionCarboxyltransferase
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-14561576_22345712347.0RegionCarboxyltransferase
TgenePPM1Echr17:35614625chr17:57033010ENST00000308249077_100154756.0Compositional biasNote=Glu-rich
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490731_52154756.0RegionNote=11 X 2 AA tandem repeats of P-E
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490731_32154756.0RepeatNote=1
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490733_34154756.0RepeatNote=2
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490735_36154756.0RepeatNote=3
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490737_38154756.0RepeatNote=4
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490739_40154756.0RepeatNote=5
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490741_42154756.0RepeatNote=6
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490743_44154756.0RepeatNote=7
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490745_46154756.0RepeatNote=8%3B approximate
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490747_48154756.0RepeatNote=9
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490749_50154756.0RepeatNote=10
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490751_52154756.0RepeatNote=11


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Fusion Gene Sequence for ACACA-PPM1E


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.
>1167_1167_1_ACACA-PPM1E_ACACA_chr17_35614625_ENST00000353139_PPM1E_chr17_57033010_ENST00000308249_length(transcript)=4703nt_BP=2308nt
GCCCTCTTGGCCTTTTCCCGGTCCCCGCCGCGCGCCTGCTGCTGTCCCCGTGCCCGAGGACTGGGAGGATGGGGCTGAGCCGCTTGCCTG
ACTTTTGATCCGACCAGTAATCACTTTGCCCGTGTGGCGCGTGGCCCGTTGCCTGAGGCTTCCTGGCGCGTGGGGCTGTTTGGTCCCCTC
CGGAGTGCGGTGAGGCGGGCCGAGCCGGGACTGCCTGGGTTTGGGGATAACGTTCCCATCTCCACCCCTGTTGCAGCAAGGGAAATTGAG
GCTGAGGGAACTGGGCCCAGGGACGGCGAGCCGTGGCTGCCTCTCCAGTCCGGGCCCCGAAGGGCTGCTCGTGGATGAACCAGACTGATT
TTAAGGGGTGAAGAGGGTGCGTTTCAATCAGATGCTTCTGGAACGTCGAAATTGTCTTCTTTGGAAAGAACCATCCCCTCTTTGGGCTTC
AGAGGCCCAAATTGAGGCGCAATGATGAGAGGATGTGGTGGTCTACTCTGATGTCAATCTTGAGGGCTAGGTCTTTCTGGAAGTGGATAT
CTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATTTTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGC
TGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAGATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGG
AGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAGATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCT
TGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGG
CTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAAT
GCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTA
AAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGCCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAA
TTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGGCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCT
TGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTG
CAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTGTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCC
AGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCT
CAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTCTTCAGACAGGTTCAAGCTGAAGTTCCTG
GATCTCCCATATTTGTGATGAGACTAGCCAAACAATCTCGTCATCTGGAGGTGCAGATCTTAGCGGACCAATATGGCAATGCTATCTCTT
TGTTTGGTCGTGATTGCTCTGTACAACGCAGGCATCAGAAGATTATTGAAGAAGCACCTGCTACTATTGCTACTCCAGCAGTATTTGAAC
ACATGGAACAGTGTGCGGTGAAACTTGCCAAAATGGTGGGTTATGTGAGTGCTGGGACTGTGGAATACCTGTACAGCCAGGATGGCAGCT
TCTACTTTCTGGAATTGAATCCTCGGCTGCAGGTAGAGCACCCTTGTACAGAGATGGTGGCTGATGTCAATCTCCCTGCAGCACAGCTCC
AGATTGCCATGGGGATTCCTCTATATAGAATCAAGGATATCCGTATGATGTATGGGGTATCTCCCTGGGGTGATTCTCCCATTGATTTTG
AAGATTCTGCACACGTTCCTTGTCCAAGGGGCCATGTTATTGCTGCTCGGATCACTAGTGAAAATCCAGATGAGGGTTTTAAGCCCAGCT
CAGGAACAGTTCAGGAGCTAAATTTCCGCAGCAATAAGAATGTTTGGGGATATTTCAGTGTTGCTGCTGCAGGGGGACTTCATGAATTTG
CTGATTCTCAGTTTGGTCACTGCTTTTCTTGGGGAGAAAACAGAGAAGAGGCAATTTCTAATTGCCCTTCCTTTTTGGCTGCTGCTTTAG
CCAGAGCCACATCAGATGAAGTCCTTCAGAGTGATCTTTCTGCACATTATATCCCAAAGGAAACGGATGGCACAGAAGGGACTGTGGAGA
TTGAGACAGTGAAATTGGCCCGTTCTGTCTTCAGCAAACTACACGAGATTTGCTGCAGCTGGGTGAAAGACTTCCCCCTCCGCAGGAGAC
CCCAGCTTTATTATGAGACATCAATCCATGCCATCAAAAACATGCGCAGGAAAATGGAGGACAAACATGTCTGCATTCCTGACTTTAATA
TGCTCTTCAACCTAGAGGACCAGGAAGAACAAGCTTACTTTGCAGTGTTTGATGGCCATGGGGGAGTAGATGCTGCTATTTATGCCTCCA
TTCACCTCCACGTTAACTTAGTCCGCCAGGAGATGTTCCCCCATGATCCTGCTGAGGCCCTGTGCAGGGCCTTCCGGGTCACTGATGAGC
GGTTTGTGCAGAAAGCAGCCAGGGAGAGCTTAAGATGTGGGACCACAGGAGTGGTGACTTTCATCAGAGGCAACATGCTACATGTGGCCT
GGGTGGGTGATTCCCAGGTTATGCTTGTGAGAAAGGGCCAAGCTGTTGAACTAATGAAGCCACACAAACCAGACAGAGAGGATGAAAAGC
AGAGAATTGAGGCCCTTGGAGGTTGCGTAGTCTGGTTTGGTGCCTGGAGGGTGAATGGAAGTCTGTCGGTTTCCAGAGCTATTGGAGATG
CTGAACATAAGCCATATATCTGTGGGGATGCAGATTCTGCCTCCACTGTTCTGGATGGGACCGAAGACTACCTCATTCTGGCCTGTGATG
GCTTCTATGACACCGTGAACCCTGATGAGGCAGTGAAAGTTGTGTCCGACCACCTGAAAGAGAATAATGGAGACAGCAGCATGGTTGCCC
ACAAATTAGTGGCATCAGCTCGTGATGCTGGGTCAAGTGATAACATCACGGTTATTGTGGTATTCCTGAGGGACATGAACAAAGCTGTAA
ATGTTAGTGAGGAATCAGATTGGACAGAGAACTCTTTTCAAGGAGGGCAAGAAGATGGTGGGGATGATAAGGAGAATCATGGAGAGTGCA
AACGCCCTTGGCCTCAGCACCAGTGCTCAGCACCAGCCGACCTAGGCTATGATGGGCGTGTGGATTCATTCACTGATAGAACTAGCCTGA
GCCCAGGGTCCCAAATCAACGTGCTGGAAGACCCAGGCTACCTAGATCTCACACAAATAGAAGCAAGCAAACCTCACAGTGCCCAGTTTT
TGCTACCAGTTGAGATGTTTGGTCCTGGTGCACCAAAGAAAGCAAATCTTATTAATGAGTTAATGATGGAGAAAAAATCAGTTCAGTCAT
CATTGCCTGAATGGAGTGGTGCTGGAGAGTTTCCCACTGCTTTCAATTTGGGTTCAACAGGGGAGCAGATATACAGAATGCAGAGCTTGT
CTCCTGTCTGTTCAGGGTTGGAAAATGAACAGTTCAAATCCCCGGGAAACAGAGTTTCTAGATTGTCTCATTTACGCCACCACTACTCAA
AGAAGTGGCACAGATTCAGGTTTAATCCAAAGTTTTATTCATTTCTCTCTGCTCAAGAGCCTTCCCACAAAATAGGCACTAGCCTGTCCT
CACTTACTGGAAGTGGGAAGAGAAATAGGATAAGAAGTTCTCTGCCATGGAGGCAAAATAGTTGGAAAGGGTACAGTGAAAACATGAGGA
AGCTCAGAAAGACTCATGATATTCCATGCCCAGATCTTCCTTGGAGCTATAAAATAGAATAATTTTTCTTTCAAGTAGGTTAGCTAGCTC
TCCCCCAATAAAAATACCACTATCAGAGTAGAAACAAGGTAGACATTTCTAAAACATATGTGCTTCATTATGAATCCATGGATGGCTCAA
TTCTTAAATGTAAATAGATCTCTAGGAAACTCAAAGTACAGTGTTTTCAATCTAAAAAGAAGTATTGGCAGTTTCACTTGCAAAATTACA
CAGCTGGTCCCTGTGATGTGTCTCGACACCAATACACAACCCCCTTCCCACCATCCTTCATGTCACTAGATACACAACCCCCTTCCCACC
ATCCCTTCAGTCACTAGTGGAAGCTTTCAAGTTAGTTATTTCAGTCAGGATATACAGTGTTGAAATCTCAATGCAGTTGAAATCTGGTCT
GATGTGCCTAATTTATCTGTGGAAAATTTAATGCTGAATTACATTTGGTTGGGAAATGTCCCTCAAAATCCTGGGCACTATGAAGGAACC
CCCTGCCCCCTCACCTTTTTGGGTAGGTAAAAGACTAAAAGCCATATGGATTTTAACTGATAACAATGAAAGTGGTAAATCAGTGTAAAA

>1167_1167_1_ACACA-PPM1E_ACACA_chr17_35614625_ENST00000353139_PPM1E_chr17_57033010_ENST00000308249_length(amino acids)=1216AA_BP=615
MRRNDERMWWSTLMSILRARSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKE
GSLSPASVGSDTLSDLGISSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRS
IRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNG
IAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGG
GGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQ
CAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSA
HVPCPRGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNCPSFLAAALARAT
SDEVLQSDLSAHYIPKETDGTEGTVEIETVKLARSVFSKLHEICCSWVKDFPLRRRPQLYYETSIHAIKNMRRKMEDKHVCIPDFNMLFN
LEDQEEQAYFAVFDGHGGVDAAIYASIHLHVNLVRQEMFPHDPAEALCRAFRVTDERFVQKAARESLRCGTTGVVTFIRGNMLHVAWVGD
SQVMLVRKGQAVELMKPHKPDREDEKQRIEALGGCVVWFGAWRVNGSLSVSRAIGDAEHKPYICGDADSASTVLDGTEDYLILACDGFYD
TVNPDEAVKVVSDHLKENNGDSSMVAHKLVASARDAGSSDNITVIVVFLRDMNKAVNVSEESDWTENSFQGGQEDGGDDKENHGECKRPW
PQHQCSAPADLGYDGRVDSFTDRTSLSPGSQINVLEDPGYLDLTQIEASKPHSAQFLLPVEMFGPGAPKKANLINELMMEKKSVQSSLPE
WSGAGEFPTAFNLGSTGEQIYRMQSLSPVCSGLENEQFKSPGNRVSRLSHLRHHYSKKWHRFRFNPKFYSFLSAQEPSHKIGTSLSSLTG

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>1167_1167_2_ACACA-PPM1E_ACACA_chr17_35614625_ENST00000360679_PPM1E_chr17_57033010_ENST00000308249_length(transcript)=4371nt_BP=1976nt
GGCAGCCAGGAGAGGCAGTGGAGCTTTTCTCCGTTGACTGTCAGAAGAAAGTGACTGTTGTTGAAAATGTTTGCTGCAACTAAAGGAGAG
CTGCTAAGATCTACTTTCTAGTTAAACAAGCTTTTATATTTCTCCCCGGCTCCTCTCAGTTCCCTTGGGAAATCAACTAATTGTGTGTGT
AAGCTAAGTGTGTGGAGGAGAGAAGATGCAAAAAGGAAGAGAAAGGTGGGGAAAGAAGGAAATTGGGAACAATTAGACAAAAAGACTATA
GTTTGAGGCCATCAGGAGTATTCTAGTCTGACTGAAGCCAGGCAGAAGGCACAGTATCTCTTGTCCTCCTGGGTTTTAAGCAGCTGCAAC
AGGAGGAGGAACTGCGGCTTGTGTTTACAAGGCCGAAATCTGAAGAAAAAGCTTCCATTCTTTTCCCATCTTGATATGGAGGGTTCTCCA
GAGGAAAATAAGGAAATGAGATATTACATGCTTCAAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGCAGGGCCGAGACAGAAAGAAA
ATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAGTGATTGAGAAGGTTCTTATT
GCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAAATGAACGTGCAATTAGATTC
GTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGCCAGTGCCTGGAGGACCAAAC
AACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGGCTGGCTGGGGTCATGCTTCT
GAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCATGTGGGCTTTAGGGGATAAG
ATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTGTGGACTGGCAGGAAAATGAT
TTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATGGGCTACAGGCAGCTGAGGAA
GTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATGCAGATGACTTCCCTAATCTC
TTCAGACAGGTTCAAGCTGAAGTTCCTGGATCTCCCATATTTGTGATGAGACTAGCCAAACAATCTCGTCATCTGGAGGTGCAGATCTTA
GCGGACCAATATGGCAATGCTATCTCTTTGTTTGGTCGTGATTGCTCTGTACAACGCAGGCATCAGAAGATTATTGAAGAAGCACCTGCT
ACTATTGCTACTCCAGCAGTATTTGAACACATGGAACAGTGTGCGGTGAAACTTGCCAAAATGGTGGGTTATGTGAGTGCTGGGACTGTG
GAATACCTGTACAGCCAGGATGGCAGCTTCTACTTTCTGGAATTGAATCCTCGGCTGCAGGTAGAGCACCCTTGTACAGAGATGGTGGCT
GATGTCAATCTCCCTGCAGCACAGCTCCAGATTGCCATGGGGATTCCTCTATATAGAATCAAGGATATCCGTATGATGTATGGGGTATCT
CCCTGGGGTGATTCTCCCATTGATTTTGAAGATTCTGCACACGTTCCTTGTCCAAGGGGCCATGTTATTGCTGCTCGGATCACTAGTGAA
AATCCAGATGAGGGTTTTAAGCCCAGCTCAGGAACAGTTCAGGAGCTAAATTTCCGCAGCAATAAGAATGTTTGGGGATATTTCAGTGTT
GCTGCTGCAGGGGGACTTCATGAATTTGCTGATTCTCAGTTTGGTCACTGCTTTTCTTGGGGAGAAAACAGAGAAGAGGCAATTTCTAAT
TGCCCTTCCTTTTTGGCTGCTGCTTTAGCCAGAGCCACATCAGATGAAGTCCTTCAGAGTGATCTTTCTGCACATTATATCCCAAAGGAA
ACGGATGGCACAGAAGGGACTGTGGAGATTGAGACAGTGAAATTGGCCCGTTCTGTCTTCAGCAAACTACACGAGATTTGCTGCAGCTGG
GTGAAAGACTTCCCCCTCCGCAGGAGACCCCAGCTTTATTATGAGACATCAATCCATGCCATCAAAAACATGCGCAGGAAAATGGAGGAC
AAACATGTCTGCATTCCTGACTTTAATATGCTCTTCAACCTAGAGGACCAGGAAGAACAAGCTTACTTTGCAGTGTTTGATGGCCATGGG
GGAGTAGATGCTGCTATTTATGCCTCCATTCACCTCCACGTTAACTTAGTCCGCCAGGAGATGTTCCCCCATGATCCTGCTGAGGCCCTG
TGCAGGGCCTTCCGGGTCACTGATGAGCGGTTTGTGCAGAAAGCAGCCAGGGAGAGCTTAAGATGTGGGACCACAGGAGTGGTGACTTTC
ATCAGAGGCAACATGCTACATGTGGCCTGGGTGGGTGATTCCCAGGTTATGCTTGTGAGAAAGGGCCAAGCTGTTGAACTAATGAAGCCA
CACAAACCAGACAGAGAGGATGAAAAGCAGAGAATTGAGGCCCTTGGAGGTTGCGTAGTCTGGTTTGGTGCCTGGAGGGTGAATGGAAGT
CTGTCGGTTTCCAGAGCTATTGGAGATGCTGAACATAAGCCATATATCTGTGGGGATGCAGATTCTGCCTCCACTGTTCTGGATGGGACC
GAAGACTACCTCATTCTGGCCTGTGATGGCTTCTATGACACCGTGAACCCTGATGAGGCAGTGAAAGTTGTGTCCGACCACCTGAAAGAG
AATAATGGAGACAGCAGCATGGTTGCCCACAAATTAGTGGCATCAGCTCGTGATGCTGGGTCAAGTGATAACATCACGGTTATTGTGGTA
TTCCTGAGGGACATGAACAAAGCTGTAAATGTTAGTGAGGAATCAGATTGGACAGAGAACTCTTTTCAAGGAGGGCAAGAAGATGGTGGG
GATGATAAGGAGAATCATGGAGAGTGCAAACGCCCTTGGCCTCAGCACCAGTGCTCAGCACCAGCCGACCTAGGCTATGATGGGCGTGTG
GATTCATTCACTGATAGAACTAGCCTGAGCCCAGGGTCCCAAATCAACGTGCTGGAAGACCCAGGCTACCTAGATCTCACACAAATAGAA
GCAAGCAAACCTCACAGTGCCCAGTTTTTGCTACCAGTTGAGATGTTTGGTCCTGGTGCACCAAAGAAAGCAAATCTTATTAATGAGTTA
ATGATGGAGAAAAAATCAGTTCAGTCATCATTGCCTGAATGGAGTGGTGCTGGAGAGTTTCCCACTGCTTTCAATTTGGGTTCAACAGGG
GAGCAGATATACAGAATGCAGAGCTTGTCTCCTGTCTGTTCAGGGTTGGAAAATGAACAGTTCAAATCCCCGGGAAACAGAGTTTCTAGA
TTGTCTCATTTACGCCACCACTACTCAAAGAAGTGGCACAGATTCAGGTTTAATCCAAAGTTTTATTCATTTCTCTCTGCTCAAGAGCCT
TCCCACAAAATAGGCACTAGCCTGTCCTCACTTACTGGAAGTGGGAAGAGAAATAGGATAAGAAGTTCTCTGCCATGGAGGCAAAATAGT
TGGAAAGGGTACAGTGAAAACATGAGGAAGCTCAGAAAGACTCATGATATTCCATGCCCAGATCTTCCTTGGAGCTATAAAATAGAATAA
TTTTTCTTTCAAGTAGGTTAGCTAGCTCTCCCCCAATAAAAATACCACTATCAGAGTAGAAACAAGGTAGACATTTCTAAAACATATGTG
CTTCATTATGAATCCATGGATGGCTCAATTCTTAAATGTAAATAGATCTCTAGGAAACTCAAAGTACAGTGTTTTCAATCTAAAAAGAAG
TATTGGCAGTTTCACTTGCAAAATTACACAGCTGGTCCCTGTGATGTGTCTCGACACCAATACACAACCCCCTTCCCACCATCCTTCATG
TCACTAGATACACAACCCCCTTCCCACCATCCCTTCAGTCACTAGTGGAAGCTTTCAAGTTAGTTATTTCAGTCAGGATATACAGTGTTG
AAATCTCAATGCAGTTGAAATCTGGTCTGATGTGCCTAATTTATCTGTGGAAAATTTAATGCTGAATTACATTTGGTTGGGAAATGTCCC
TCAAAATCCTGGGCACTATGAAGGAACCCCCTGCCCCCTCACCTTTTTGGGTAGGTAAAAGACTAAAAGCCATATGGATTTTAACTGATA

>1167_1167_2_ACACA-PPM1E_ACACA_chr17_35614625_ENST00000360679_PPM1E_chr17_57033010_ENST00000308249_length(amino acids)=1160AA_BP=559
MTEARQKAQYLLSSWVLSSCNRRRNCGLCLQGRNLKKKLPFFSHLDMEGSPEENKEMRYYMLQRSSMSGLHLVKQGRDRKKIDSQRDFTV
ASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVEL
ILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKIASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVP
QELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAIS
LFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQL
QIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEF
ADSQFGHCFSWGENREEAISNCPSFLAAALARATSDEVLQSDLSAHYIPKETDGTEGTVEIETVKLARSVFSKLHEICCSWVKDFPLRRR
PQLYYETSIHAIKNMRRKMEDKHVCIPDFNMLFNLEDQEEQAYFAVFDGHGGVDAAIYASIHLHVNLVRQEMFPHDPAEALCRAFRVTDE
RFVQKAARESLRCGTTGVVTFIRGNMLHVAWVGDSQVMLVRKGQAVELMKPHKPDREDEKQRIEALGGCVVWFGAWRVNGSLSVSRAIGD
AEHKPYICGDADSASTVLDGTEDYLILACDGFYDTVNPDEAVKVVSDHLKENNGDSSMVAHKLVASARDAGSSDNITVIVVFLRDMNKAV
NVSEESDWTENSFQGGQEDGGDDKENHGECKRPWPQHQCSAPADLGYDGRVDSFTDRTSLSPGSQINVLEDPGYLDLTQIEASKPHSAQF
LLPVEMFGPGAPKKANLINELMMEKKSVQSSLPEWSGAGEFPTAFNLGSTGEQIYRMQSLSPVCSGLENEQFKSPGNRVSRLSHLRHHYS

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Fusion Gene PPI Analysis for ACACA-PPM1E


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-PPM1E


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-PPM1E


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
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human