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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 67

FusionGeneSummary for AATF_ACACA

check button Fusion gene summary
Fusion gene informationFusion gene name: AATF_ACACA
Fusion gene ID: 67
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 date2018052320180522
UniProtAcc

Q9NY61

Q13085

Ensembl transtripts involved in fusion geneENST00000225402, ENST00000590321, 
ENST00000353139, ENST00000360679, 
ENST00000394406, ENST00000335166, 
ENST00000416895, ENST00000361253, 
ENST00000588142, ENST00000589665, 
Fusion gene scores* DoF score13 X 8 X 7=72810 X 9 X 5=450
# samples 139
** MAII scorelog2(13/728*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/450*10)=-2.32192809488736
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-E2-A1B0-01AAATFchr17

35378313

+ACACAchr17

35454919

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shitENST00000225402ENST00000353139AATFchr17

35378313

+ACACAchr17

35454919

-
Frame-shitENST00000225402ENST00000360679AATFchr17

35378313

+ACACAchr17

35454919

-
Frame-shitENST00000225402ENST00000394406AATFchr17

35378313

+ACACAchr17

35454919

-
Frame-shitENST00000225402ENST00000335166AATFchr17

35378313

+ACACAchr17

35454919

-
5CDS-intronENST00000225402ENST00000416895AATFchr17

35378313

+ACACAchr17

35454919

-
5CDS-intronENST00000225402ENST00000361253AATFchr17

35378313

+ACACAchr17

35454919

-
5CDS-intronENST00000225402ENST00000588142AATFchr17

35378313

+ACACAchr17

35454919

-
5CDS-intronENST00000225402ENST00000589665AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000353139AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000360679AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000394406AATFchr17

35378313

+ACACAchr17

35454919

-
intron-3CDSENST00000590321ENST00000335166AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000416895AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000361253AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000588142AATFchr17

35378313

+ACACAchr17

35454919

-
intron-intronENST00000590321ENST00000589665AATFchr17

35378313

+ACACAchr17

35454919

-

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FusionProtFeatures for AATF_ACACA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AATF

Q9NY61

ACACA

Q13085

May function as a general inhibitor of the histonedeacetylase HDAC1. Binding to the pocket region of RB1 maydisplace HDAC1 from RB1/E2F complexes, leading to activation ofE2F target genes and cell cycle progression. Conversely,displacement of HDAC1 from SP1 bound to the CDKN1A promoter leadsto increased expression of this CDK inhibitor and blocks cellcycle progression. Also antagonizes PAWR mediated induction ofaberrant amyloid peptide production in Alzheimer disease(presenile and senile dementia), although the molecular basis forthis phenomenon has not been described to date.{ECO:0000269|PubMed:12450794, ECO:0000269|PubMed:12847090,ECO:0000269|PubMed:14627703, ECO:0000269|PubMed:15207272}.

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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FusionGeneSequence for AATF_ACACA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
AATFRB1, MPP6, DAZAP2, LDOC1, MAPT, PAWR, SP1, RBL2, RBL1, POLR2J, LZTR1, SS18L1, PCBD2, MAGED1, CHEK2, RELA, SIRT7, MDM2, PIN1, CAND1, MMS19, CPD, EFNB3, SMAD3, NEDD4L, ZNF468, LIN28A, HIPK2, AR, DAPK3, TSG101, NGDN, NXF1, OBSL1, BTRC, FBXW11, RPS2, RPS8, DDX56, EBNA1BP2, ESF1, KRR1, NOL10, TBL3, WDR36, BRIX1, DDX52, KIAA0020, KRI1, MPHOSPH10, NOC2L, NOL6, RPF2, SCARNA22, IFI16, CEP164, XPO1, HNRNPU, RPL10, RTEL1, AURKA, CDC14B, FGF8, ZNF324B, ZNF2, FOXA1ACACABRCA1, CHGB, PRKAA2, MLLT3, MLLT1, NPM1, AKR1B10, SIRT1, ARRB1, SIRT7, UBE2N, ATXN1, INPPL1, CBL, UBASH3B, PIK3R2, SHC1, AP2M1, ERCC6L, IKBKAP, CA9, VCP, FN1, IFIT1, FBXO6, CCT3, COPB1, DCAF6, EPB41L1, KIF5B, NUP50, PSMB7, SMEK1, EEF2K, STK25, PHKG2, ADRBK1, CSNK1A1, CSNK1E, PRKAA1, STK3, ILK, RPS6KA1, RIOK2, PRKAB1, PRKAG1, FUS, ENO1, MOV10, NXF1, MDM2, SUZ12, RNF2, BMI1, EGFR, SOCS6, SGCZ, C20orf195, PSG1, ARHGAP25, LIPH, IARS, PSMB2, PSMC6, PSMD2, NTRK1, PTEN, NDUFA4, C15orf48, COQ9, ZNF746, OAS2, LGALS3BP, C4orf26, TRIM25


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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RelatedDrugs for AATF_ACACA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneACACAQ13085DB00121BiotinAcetyl-CoA carboxylase 1small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for AATF_ACACA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACACAC0018801Heart failure1CTD_human
TgeneACACAC2239176Liver carcinoma1CTD_human