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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ACACA-PPM1E

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACACA-PPM1E
FusionPDB ID: 1167
FusionGDB2.0 ID: 1167
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

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

Q13085

.
Ensembl transtripts involved in fusion geneENST idsENST00000335166, ENST00000394406, 
ENST00000353139, ENST00000360679, 
ENST00000361253, ENST00000416895, 
ENST00000588142, ENST00000589665, 
ENST00000308249, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* 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 (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ACACA(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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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 ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
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 Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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

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

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Fusion Protein Functional Features


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
ACACA

Q13085

.
FUNCTION: Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:20952656, PubMed:20457939, PubMed:29899443). {ECO:0000269|PubMed:20457939, ECO:0000269|PubMed:20952656, ECO:0000269|PubMed:29899443}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355275_466493.66666666666672269.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456275_466608.66666666666662384.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254275_466513.66666666666662289.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456275_466571.66666666666662347.0DomainATP-grasp
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355315_320493.66666666666672269.0Nucleotide bindingATP
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456315_320608.66666666666662384.0Nucleotide bindingATP
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254315_320513.66666666666662289.0Nucleotide bindingATP
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456315_320571.66666666666662347.0Nucleotide bindingATP
TgenePPM1Echr17:35614625chr17:57033010ENST0000030824907231_488154.66666666666666756.0DomainPPM-type phosphatase

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355117_618493.66666666666672269.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-13551576_1914493.66666666666672269.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-13551918_2234493.66666666666672269.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-1355745_819493.66666666666672269.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456117_618608.66666666666662384.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-14561576_1914608.66666666666662384.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-14561918_2234608.66666666666662384.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-1456745_819608.66666666666662384.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254117_618513.66666666666662289.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-12541576_1914513.66666666666662289.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-12541918_2234513.66666666666662289.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-1254745_819513.66666666666662289.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456117_618571.66666666666662347.0DomainBiotin carboxylation
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-14561576_1914571.66666666666662347.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-14561918_2234571.66666666666662347.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-1456745_819571.66666666666662347.0DomainBiotinyl-binding
HgeneACACAchr17:35614625chr17:57033010ENST00000335166-13551576_2234493.66666666666672269.0RegionCarboxyltransferase
HgeneACACAchr17:35614625chr17:57033010ENST00000353139-14561576_2234608.66666666666662384.0RegionCarboxyltransferase
HgeneACACAchr17:35614625chr17:57033010ENST00000360679-12541576_2234513.66666666666662289.0RegionCarboxyltransferase
HgeneACACAchr17:35614625chr17:57033010ENST00000394406-14561576_2234571.66666666666662347.0RegionCarboxyltransferase
TgenePPM1Echr17:35614625chr17:57033010ENST00000308249077_100154.66666666666666756.0Compositional biasNote=Glu-rich
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490731_52154.66666666666666756.0RegionNote=11 X 2 AA tandem repeats of P-E
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490731_32154.66666666666666756.0RepeatNote=1
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490733_34154.66666666666666756.0RepeatNote=2
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490735_36154.66666666666666756.0RepeatNote=3
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490737_38154.66666666666666756.0RepeatNote=4
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490739_40154.66666666666666756.0RepeatNote=5
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490741_42154.66666666666666756.0RepeatNote=6
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490743_44154.66666666666666756.0RepeatNote=7
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490745_46154.66666666666666756.0RepeatNote=8%3B approximate
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490747_48154.66666666666666756.0RepeatNote=9
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490749_50154.66666666666666756.0RepeatNote=10
TgenePPM1Echr17:35614625chr17:57033010ENST000003082490751_52154.66666666666666756.0RepeatNote=11


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ACACA
PPM1E


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ACACA-PPM1E


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ACACA-PPM1E


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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