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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-GGNBP2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACACA-GGNBP2
FusionPDB ID: 1152
FusionGDB2.0 ID: 1152
HgeneTgene
Gene symbol

ACACA

GGNBP2

Gene ID

31

79893

Gene nameacetyl-CoA carboxylase alphagametogenetin binding protein 2
SynonymsACAC|ACACAD|ACC|ACC1|ACCADIF-3|DIF3|LCRG1|LZK1|ZFP403|ZNF403
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
Descriptionacetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alphagametogenetin-binding protein 2C3HC4-type zinc finger proteinlaryngeal carcinoma related gene 1laryngeal carcinoma-related protein 1zinc finger protein 403
Modification date2020031320200313
UniProtAcc

Q13085

Q9H3C7

Ensembl transtripts involved in fusion geneENST idsENST00000335166, ENST00000353139, 
ENST00000360679, ENST00000394406, 
ENST00000361253, ENST00000416895, 
ENST00000588142, ENST00000589665, 
ENST00000485685, ENST00000304718, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score44 X 35 X 17=261809 X 6 X 8=432
# samples 519
** MAII scorelog2(51/26180*10)=-5.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/432*10)=-2.26303440583379
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 GGNBP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ACACA(35578645)-GGNBP2(34937774), # samples:1
Anticipated loss of major functional domain due to fusion event.ACACA-GGNBP2 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-GGNBP2 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-GGNBP2 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-GGNBP2 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-GGNBP2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACACA-GGNBP2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACACA-GGNBP2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ACACA-GGNBP2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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

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 GGNBP2 (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
ChimerDB4COADTCGA-AA-3956-01AACACAchr17

35578645

-GGNBP2chr17

34937774

+


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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)
ENST00000394406ACACAchr1735578645-ENST00000304718GGNBP2chr1734937774+5274376311337661217
ENST00000335166ACACAchr1735578645-ENST00000304718GGNBP2chr1734937774+5455394460639471113

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
ENST00000394406ENST00000304718ACACAchr1735578645-GGNBP2chr1734937774+0.0006293120.99937075
ENST00000335166ENST00000304718ACACAchr1735578645-GGNBP2chr1734937774+0.0008042710.99919575

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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

>1152_1152_1_ACACA-GGNBP2_ACACA_chr17_35578645_ENST00000335166_GGNBP2_chr17_34937774_ENST00000304718_length(amino acids)=1113AA_BP=
MSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFVVMVTPEDLKANAEY
IKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKIASSIVAQTAGIPTL
PWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLFRQVQAEVPGSPIFV
MRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVEYLYSQDGSFYFLEL
NPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSENPDEGFKPSSGTVQE
LNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLETESFQMNRIDTGWLDRLIA
EKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQVLPAHTLLNTVDVELIYEGVKYVLKVTRQSPNSYVVIMNGSCVEVDVHR
LSDGGLLLSYDGSSYTTYMKEEVDRYRITIGNKTCVFEKENDPSVMRSPSAGKLIQYIVEDGGHVFAGQCYAEIEVMKMVMTLTAVESGC
IHYVKRPGAALDPGCVLAKMQLDNPSKVQQAELHTGSLPRIQSTALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFFSSKVKDWVERLMKT
LRDPSLPLLELQDIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREVFFMNTQSIVQLVQRYRSG
IRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSDMNTVLNYIFSHAQVTKKNLLVTMLIDQLCGRDPTLTDELLNILTELTQ
LSKTTNAKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLILSETSIFDVLPNFFYHSNQVVRMAALEVYVRRAY

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>1152_1152_2_ACACA-GGNBP2_ACACA_chr17_35578645_ENST00000394406_GGNBP2_chr17_34937774_ENST00000304718_length(amino acids)=1217AA_BP=
MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI
SSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFV
VMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKI
ASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLF
RQVQAEVPGSPIFVMRLAKQSRHLEVQILADQYGNAISLFGRDCSVQRRHQKIIEEAPATIATPAVFEHMEQCAVKLAKMVGYVSAGTVE
YLYSQDGSFYFLELNPRLQVEHPCTEMVADVNLPAAQLQIAMGIPLYRIKDIRMMYGVSPWGDSPIDFEDSAHVPCPRGHVIAARITSEN
PDEGFKPSSGTVQELNFRSNKNVWGYFSVAAAGGLHEFADSQFGHCFSWGENREEAISNMVVALKELSIRGDFRTTVEYLIKLLETESFQ
MNRIDTGWLDRLIAEKVQAERPDTMLGVVCGALHVADVSLRNSVSNFLHSLERGQVLPAHTLLNTVDVELIYEGVKYVLKVTRQSPNSYV
VIMNGSCVEVDVHRLSDGGLLLSYDGSSYTTYMKEEVDRYRITIGNKTCVFEKENDPSVMRSPSAGKLIQYIVEDGGHVFAGQCYAEIEV
MKMVMTLTAVESGCIHYVKRPGAALDPGCVLAKMQLDNPSKVQQAELHTGSLPRIQSTALRGEKLHRVFHYVLDNLVNVMNGYCLPDPFF
SSKVKDWVERLMKTLRDPSLPLLELQDIMTSVSGRIPPNVEKSIKKEMAQYASNITSVLCQFPSQQIANILDSHAATLNRKSEREVFFMN
TQSIVQLVQRYRSGIRGHMKAVVMDLLRQYLRVETQFQNGHYDKCVFALREENKSDMNTVLNYIFSHAQVTKKNLLVTMLIDQLCGRDPT
LTDELLNILTELTQLSKTTNAKVALRARQVLIASHLPSYELRHNQVESIFLSAIDMYGHQFCIENLQKLILSETSIFDVLPNFFYHSNQV

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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/chr17:35578645/chr17:34937774)
- 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

GGNBP2

Q9H3C7

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: May be involved in spermatogenesis.

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
HgeneACACAchr17:35578645chr17:34937774ENST00000335166-2855117_6181112.66666666666672269.0DomainBiotin carboxylation
HgeneACACAchr17:35578645chr17:34937774ENST00000335166-2855275_4661112.66666666666672269.0DomainATP-grasp
HgeneACACAchr17:35578645chr17:34937774ENST00000335166-2855745_8191112.66666666666672269.0DomainBiotinyl-binding
HgeneACACAchr17:35578645chr17:34937774ENST00000353139-2956117_6181227.66666666666672384.0DomainBiotin carboxylation
HgeneACACAchr17:35578645chr17:34937774ENST00000353139-2956275_4661227.66666666666672384.0DomainATP-grasp
HgeneACACAchr17:35578645chr17:34937774ENST00000353139-2956745_8191227.66666666666672384.0DomainBiotinyl-binding
HgeneACACAchr17:35578645chr17:34937774ENST00000360679-2754117_6181132.66666666666672289.0DomainBiotin carboxylation
HgeneACACAchr17:35578645chr17:34937774ENST00000360679-2754275_4661132.66666666666672289.0DomainATP-grasp
HgeneACACAchr17:35578645chr17:34937774ENST00000360679-2754745_8191132.66666666666672289.0DomainBiotinyl-binding
HgeneACACAchr17:35578645chr17:34937774ENST00000394406-2956117_6181190.66666666666672347.0DomainBiotin carboxylation
HgeneACACAchr17:35578645chr17:34937774ENST00000394406-2956275_4661190.66666666666672347.0DomainATP-grasp
HgeneACACAchr17:35578645chr17:34937774ENST00000394406-2956745_8191190.66666666666672347.0DomainBiotinyl-binding
HgeneACACAchr17:35578645chr17:34937774ENST00000335166-2855315_3201112.66666666666672269.0Nucleotide bindingATP
HgeneACACAchr17:35578645chr17:34937774ENST00000353139-2956315_3201227.66666666666672384.0Nucleotide bindingATP
HgeneACACAchr17:35578645chr17:34937774ENST00000360679-2754315_3201132.66666666666672289.0Nucleotide bindingATP
HgeneACACAchr17:35578645chr17:34937774ENST00000394406-2956315_3201190.66666666666672347.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACACAchr17:35578645chr17:34937774ENST00000335166-28551576_19141112.66666666666672269.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000335166-28551918_22341112.66666666666672269.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000353139-29561576_19141227.66666666666672384.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000353139-29561918_22341227.66666666666672384.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000360679-27541576_19141132.66666666666672289.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000360679-27541918_22341132.66666666666672289.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000394406-29561576_19141190.66666666666672347.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000394406-29561918_22341190.66666666666672347.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35578645chr17:34937774ENST00000335166-28551576_22341112.66666666666672269.0RegionCarboxyltransferase
HgeneACACAchr17:35578645chr17:34937774ENST00000353139-29561576_22341227.66666666666672384.0RegionCarboxyltransferase
HgeneACACAchr17:35578645chr17:34937774ENST00000360679-27541576_22341132.66666666666672289.0RegionCarboxyltransferase
HgeneACACAchr17:35578645chr17:34937774ENST00000394406-29561576_22341190.66666666666672347.0RegionCarboxyltransferase


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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
GGNBP2


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-GGNBP2


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-GGNBP2


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