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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: 38837

FusionGeneSummary for TNFAIP1_AATF

check button Fusion gene summary
Fusion gene informationFusion gene name: TNFAIP1_AATF
Fusion gene ID: 38837
HgeneTgene
Gene symbol

TNFAIP1

AATF

Gene ID

7126

26574

Gene nameTNF alpha induced protein 1apoptosis antagonizing transcription factor
SynonymsB12|B61|BTBD34|EDP1|hBACURD2BFR2|CHE-1|CHE1|DED
Cytomap

17q11.2

17q12

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2BTB/POZ domain-containing protein TNFAIP1tumor necrosis factor, alpha induced protein 1tumor necrosis factor, alpha-induced protein 1 (endothelial)protein AATFrb-binding protein Che-1
Modification date2018052220180523
UniProtAcc

Q13829

Q9NY61

Ensembl transtripts involved in fusion geneENST00000544907, ENST00000226225, 
ENST00000583213, 
ENST00000225402, 
ENST00000590321, 
Fusion gene scores* DoF score3 X 3 X 2=1814 X 10 X 7=980
# samples 313
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/980*10)=-2.91427012597412
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TNFAIP1 [Title/Abstract] AND AATF [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
HgeneTNFAIP1

GO:0016567

protein ubiquitination

19782033

HgeneTNFAIP1

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

19782033

TgeneAATF

GO:0032929

negative regulation of superoxide anion generation

15207272

TgeneAATF

GO:0045944

positive regulation of transcription by RNA polymerase II

18049476

TgeneAATF

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-AC-A3QQ-01ATNFAIP1chr17

26662882

+AATFchr17

35343916

+
* 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
5UTR-3CDSENST00000544907ENST00000225402TNFAIP1chr17

26662882

+AATFchr17

35343916

+
5UTR-intronENST00000544907ENST00000590321TNFAIP1chr17

26662882

+AATFchr17

35343916

+
5UTR-3CDSENST00000226225ENST00000225402TNFAIP1chr17

26662882

+AATFchr17

35343916

+
5UTR-intronENST00000226225ENST00000590321TNFAIP1chr17

26662882

+AATFchr17

35343916

+
3UTR-3CDSENST00000583213ENST00000225402TNFAIP1chr17

26662882

+AATFchr17

35343916

+
3UTR-intronENST00000583213ENST00000590321TNFAIP1chr17

26662882

+AATFchr17

35343916

+

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FusionProtFeatures for TNFAIP1_AATF


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TNFAIP1

Q13829

AATF

Q9NY61

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex involved in regulation ofcytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligasecomplex mediates the ubiquitination of RHOA, leading to itsdegradation by the proteasome, thereby regulating the actincytoskeleton and cell migration. Its interaction with RHOB mayregulate apoptosis. May enhance the PCNA-dependent DNA polymerasedelta activity. {ECO:0000269|PubMed:19637314,ECO:0000269|PubMed:19782033}. 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 TNFAIP1_AATF


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 TNFAIP1_AATF


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
TNFAIP1KCTD13, SVIL, KCTD10, RIN3, CUL3, DCUN1D1, CSNK2B, PCNA, RHOB, POLR1C, ARNT, KDM1A, SUV39H1, RHOA, PSMA1, TNFAIP1, HAT1, STK16, EPM2AIP1, CAPN7, EXOSC5, CARD9, ARMC7, NXF1, TUBB4A, ZDHHC17, UBXN1, HSPA1L, FLNC, BAG3, CLPSL1, DAPP1, ZMYND19, XPO1, CAPZA2, DVL2, MYH9, PPP1CB, EMC2, SYNPO, LIMA1, ANLN, ENTHD2, MYO18A, UBXN7, FAF1, ARIH1, USP25, NRP1, SMARCB1AATFRB1, 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


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 TNFAIP1_AATF


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 TNFAIP1_AATF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTNFAIP1C0011881Diabetic Nephropathy1CTD_human