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Fusion gene ID: 67 |
FusionGeneSummary for AATF_ACACA |
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Fusion gene information | Fusion gene name: AATF_ACACA | Fusion gene ID: 67 | Hgene | Tgene | Gene symbol | AATF | ACACA | Gene ID | 26574 | 31 |
Gene name | apoptosis antagonizing transcription factor | acetyl-CoA carboxylase alpha | |
Synonyms | BFR2|CHE-1|CHE1|DED | ACAC|ACACAD|ACC|ACC1|ACCA | |
Cytomap | 17q12 | 17q12 | |
Type of gene | protein-coding | protein-coding | |
Description | protein AATFrb-binding protein Che-1 | acetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alpha | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q9NY61 | Q13085 | |
Ensembl transtripts involved in fusion gene | ENST00000225402, ENST00000590321, | ENST00000353139, ENST00000360679, ENST00000394406, ENST00000335166, ENST00000416895, ENST00000361253, ENST00000588142, ENST00000589665, | |
Fusion gene scores | * DoF score | 13 X 8 X 7=728 | 10 X 9 X 5=450 |
# samples | 13 | 9 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | AATF | GO:0032929 | negative regulation of superoxide anion generation | 15207272 |
Hgene | AATF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18049476 |
Hgene | AATF | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 15207272 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-E2-A1B0-01A | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000225402 | ENST00000353139 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
Frame-shift | ENST00000225402 | ENST00000360679 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
Frame-shift | ENST00000225402 | ENST00000394406 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
Frame-shift | ENST00000225402 | ENST00000335166 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
5CDS-intron | ENST00000225402 | ENST00000416895 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
5CDS-intron | ENST00000225402 | ENST00000361253 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
5CDS-intron | ENST00000225402 | ENST00000588142 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
5CDS-intron | ENST00000225402 | ENST00000589665 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-3CDS | ENST00000590321 | ENST00000353139 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-3CDS | ENST00000590321 | ENST00000360679 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-3CDS | ENST00000590321 | ENST00000394406 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-3CDS | ENST00000590321 | ENST00000335166 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-intron | ENST00000590321 | ENST00000416895 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-intron | ENST00000590321 | ENST00000361253 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-intron | ENST00000590321 | ENST00000588142 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
intron-intron | ENST00000590321 | ENST00000589665 | AATF | chr17 | 35378313 | + | ACACA | chr17 | 35454919 | - |
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FusionProtFeatures for AATF_ACACA |
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Hgene | Tgene |
AATF | ACACA |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for AATF_ACACA |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
AATF | RB1, 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, FOXA1 | ACACA | BRCA1, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AATF_ACACA |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ACACA | Q13085 | DB00121 | Biotin | Acetyl-CoA carboxylase 1 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for AATF_ACACA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ACACA | C0018801 | Heart failure | 1 | CTD_human |
Tgene | ACACA | C2239176 | Liver carcinoma | 1 | CTD_human |