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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: 69

FusionGeneSummary for AATF_BCLAF1

check button Fusion gene summary
Fusion gene informationFusion gene name: AATF_BCLAF1
Fusion gene ID: 69
HgeneTgene
Gene symbol

AATF

BCLAF1

Gene ID

26574

9774

Gene nameapoptosis antagonizing transcription factorBCL2 associated transcription factor 1
SynonymsBFR2|CHE-1|CHE1|DEDBTF|bK211L9.1
Cytomap

17q12

6q23.3

Type of geneprotein-codingprotein-coding
Descriptionprotein AATFrb-binding protein Che-1bcl-2-associated transcription factor 1BCLAF1 and THRAP3 family member 1
Modification date2018052320180524
UniProtAcc

Q9NY61

Q9NYF8

Ensembl transtripts involved in fusion geneENST00000225402, ENST00000590321, 
ENST00000353331, ENST00000531224, 
ENST00000527536, ENST00000530767, 
ENST00000527759, ENST00000031135, 
ENST00000529917, ENST00000392348, 
Fusion gene scores* DoF score13 X 8 X 7=7283 X 3 X 1=9
# samples 133
** MAII scorelog2(13/728*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AATF [Title/Abstract] AND BCLAF1 [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

TgeneBCLAF1

GO:0043065

positive regulation of apoptotic process

10330179

TgeneBCLAF1

GO:0045892

negative regulation of transcription, DNA-templated

10330179


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
ChiTaRS3.1BE866034AATFchr17

35310426

+BCLAF1chr6

136599787

-
* 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-shiftENST00000225402ENST00000353331AATFchr17

35310426

+BCLAF1chr6

136599787

-
Frame-shiftENST00000225402ENST00000531224AATFchr17

35310426

+BCLAF1chr6

136599787

-
Frame-shiftENST00000225402ENST00000527536AATFchr17

35310426

+BCLAF1chr6

136599787

-
Frame-shiftENST00000225402ENST00000530767AATFchr17

35310426

+BCLAF1chr6

136599787

-
Frame-shiftENST00000225402ENST00000527759AATFchr17

35310426

+BCLAF1chr6

136599787

-
5CDS-intronENST00000225402ENST00000031135AATFchr17

35310426

+BCLAF1chr6

136599787

-
5CDS-intronENST00000225402ENST00000529917AATFchr17

35310426

+BCLAF1chr6

136599787

-
5CDS-intronENST00000225402ENST00000392348AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-3CDSENST00000590321ENST00000353331AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-3CDSENST00000590321ENST00000531224AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-3CDSENST00000590321ENST00000527536AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-3CDSENST00000590321ENST00000530767AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-3CDSENST00000590321ENST00000527759AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-intronENST00000590321ENST00000031135AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-intronENST00000590321ENST00000529917AATFchr17

35310426

+BCLAF1chr6

136599787

-
intron-intronENST00000590321ENST00000392348AATFchr17

35310426

+BCLAF1chr6

136599787

-

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FusionProtFeatures for AATF_BCLAF1


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

Q9NY61

BCLAF1

Q9NYF8

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}. Death-promoting transcriptional repressor. May beinvolved in cyclin-D1/CCND1 mRNA stability through the SNARPcomplex which associates with both the 3'end of the CCND1 gene andits mRNA. {ECO:0000269|PubMed:18794151}.

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_BCLAF1


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_BCLAF1


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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RelatedDrugs for AATF_BCLAF1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AATF_BCLAF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBCLAF1C0149925Small cell carcinoma of lung1CTD_human