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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:AATF-ACACA (FusionGDB2 ID:122)

Fusion Gene Summary for AATF-ACACA

check button Fusion gene summary
Fusion gene informationFusion gene name: AATF-ACACA
Fusion gene ID: 122
HgeneTgene
Gene symbol

AATF

ACACA

Gene ID

26574

31

Gene nameapoptosis antagonizing transcription factoracetyl-CoA carboxylase alpha
SynonymsBFR2|CHE-1|CHE1|DEDACAC|ACACAD|ACC|ACC1|ACCA
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
Descriptionprotein AATFrb-binding protein Che-1acetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alpha
Modification date2020031320200313
UniProtAcc

Q9NY61

Q13085

Ensembl transtripts involved in fusion geneENST00000225402, ENST00000590321, 
ENST00000361253, ENST00000416895, 
ENST00000588142, ENST00000589665, 
ENST00000335166, ENST00000353139, 
ENST00000360679, ENST00000394406, 
Fusion gene scores* DoF score16 X 11 X 7=123220 X 22 X 7=3080
# samples 1721
** MAII scorelog2(17/1232*10)=-2.8573956045572
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/3080*10)=-3.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointAATF(35378313)-ACACA(35454919), # samples:1
AATF(35367503)-ACACA(35727339), # samples:1
ACACA(35627641)-AATF(35376303), # samples:1
Anticipated loss of major functional domain due to fusion event.AATF-ACACA seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AATF-ACACA seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACACA-AATF seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACACA-AATF 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
HgeneAATF

GO:0032929

negative regulation of superoxide anion generation

15207272

HgeneAATF

GO:0045944

positive regulation of transcription by RNA polymerase II

18049476

HgeneAATF

GO:2000378

negative regulation of reactive oxygen species metabolic process

15207272


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

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

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
ChimerDB4BRCATCGA-E2-A1B0-01AAATFchr17

35378313

+ACACAchr17

35454919

-
ChiTaRS5.0N/AM87900AATFchr17

35367503

+ACACAchr17

35727339

+


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Fusion Gene ORF analysis for AATF-ACACA

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
5CDS-intronENST00000225402ENST00000361253AATFchr17

35378313

+ACACAchr17

35454919

-
5CDS-intronENST00000225402ENST00000416895AATFchr17

35378313

+ACACAchr17

35454919

-
5CDS-intronENST00000225402ENST00000588142AATFchr17

35378313

+ACACAchr17

35454919

-
5CDS-intronENST00000225402ENST00000589665AATFchr17

35378313

+ACACAchr17

35454919

-
Frame-shiftENST00000225402ENST00000335166AATFchr17

35378313

+ACACAchr17

35454919

-
Frame-shiftENST00000225402ENST00000353139AATFchr17

35378313

+ACACAchr17

35454919

-
Frame-shiftENST00000225402ENST00000360679AATFchr17

35378313

+ACACAchr17

35454919

-
Frame-shiftENST00000225402ENST00000394406AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000335166AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000353139AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000360679AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000394406AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000225402ENST00000335166AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000225402ENST00000353139AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000225402ENST00000360679AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000225402ENST00000361253AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000225402ENST00000394406AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000225402ENST00000416895AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000225402ENST00000588142AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000225402ENST00000589665AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000335166AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000353139AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000360679AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000361253AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000361253AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000394406AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000416895AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000416895AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000588142AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000588142AATFchr17

35367503

+ACACAchr17

35727339

+
intron-intronENST00000590321ENST00000589665AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000589665AATFchr17

35367503

+ACACAchr17

35727339

+

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 AATF-ACACA


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)

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.

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.

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Fusion Protein Features for AATF-ACACA


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/:35378313/:35454919)
- 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
AATF

Q9NY61

ACACA

Q13085

FUNCTION: May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date. {ECO:0000269|PubMed:12450794, ECO:0000269|PubMed:12847090, ECO:0000269|PubMed:14627703, ECO:0000269|PubMed:15207272}.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}.

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 AATF-ACACA


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 AATF-ACACA


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 AATF-ACACA


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 AATF-ACACA


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