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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: 43791

FusionGeneSummary for ZNF93_AP2A2

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF93_AP2A2
Fusion gene ID: 43791
HgeneTgene
Gene symbol

ZNF93

AP2A2

Gene ID

81931

161

Gene namezinc finger protein 93adaptor related protein complex 2 subunit alpha 2
SynonymsHPF34|HTF34|TF34|ZNF505ADTAB|CLAPA2|HIP-9|HIP9|HYPJ
Cytomap

19p12

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 93zinc finger protein 505zinc finger protein HTF34AP-2 complex subunit alpha-2100 kDa coated vesicle protein Cadapter-related protein complex 2 subunit alpha-2adaptin, alpha Badaptor related protein complex 2 alpha 2 subunitalpha-adaptin C; Huntingtin interacting protein Jalpha2-adaptinclathrin as
Modification date2018052220180522
UniProtAcc

P35789

O94973

Ensembl transtripts involved in fusion geneENST00000592613, ENST00000591366, 
ENST00000592160, ENST00000343769, 
ENST00000534328, ENST00000332231, 
ENST00000448903, ENST00000525891, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 3=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF93 [Title/Abstract] AND AP2A2 [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
HgeneZNF93

GO:0045892

negative regulation of transcription, DNA-templated

25274305

HgeneZNF93

GO:0070895

negative regulation of transposon integration

25274305


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
ChiTaRS3.1DB178459ZNF93chr19

20011902

+AP2A2chr11

1003721

+
* 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
3UTR-intronENST00000592613ENST00000534328ZNF93chr19

20011902

+AP2A2chr11

1003721

+
3UTR-intronENST00000592613ENST00000332231ZNF93chr19

20011902

+AP2A2chr11

1003721

+
3UTR-intronENST00000592613ENST00000448903ZNF93chr19

20011902

+AP2A2chr11

1003721

+
3UTR-3UTRENST00000592613ENST00000525891ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000591366ENST00000534328ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000591366ENST00000332231ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000591366ENST00000448903ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-3UTRENST00000591366ENST00000525891ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000592160ENST00000534328ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000592160ENST00000332231ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000592160ENST00000448903ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-3UTRENST00000592160ENST00000525891ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000343769ENST00000534328ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000343769ENST00000332231ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-intronENST00000343769ENST00000448903ZNF93chr19

20011902

+AP2A2chr11

1003721

+
5CDS-3UTRENST00000343769ENST00000525891ZNF93chr19

20011902

+AP2A2chr11

1003721

+

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FusionProtFeatures for ZNF93_AP2A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF93

P35789

AP2A2

O94973

Transcription factor specifically required to represslong interspersed nuclear element 1 (L1) retrotransposons:recognizes and binds L1 sequences and repress their expression byrecruiting a repressive complex containing TRIM28/KAP1(PubMed:25274305). Not able to repress expression of all subtypesof L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or oldersubtypes nor at the most recently evolved L1PA2 and L1Hs. 50% ofL1PA3 elements have lost the ZNF93-binding site, explaining whyZNF93 is not able to repress their expression (PubMed:25274305).{ECO:0000269|PubMed:25274305}. Component of the adaptor protein complex 2 (AP-2).Adaptor protein complexes function in protein transport viatransport vesicles in different membrane traffic pathways. Adaptorprotein complexes are vesicle coat components and appear to beinvolved in cargo selection and vesicle formation. AP-2 isinvolved in clathrin-dependent endocytosis in which cargo proteinsare incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with theearly endosome. The clathrin lattice serves as a mechanicalscaffold but is itself unable to bind directly to membranecomponents. Clathrin-associated adaptor protein (AP) complexeswhich can bind directly to both the clathrin lattice and to thelipid and protein components of membranes are considered to be themajor clathrin adaptors contributing the CCV formation. AP-2 alsoserves as a cargo receptor to selectively sort the membraneproteins involved in receptor-mediated endocytosis. AP-2 seems toplay a role in the recycling of synaptic vesicle membranes fromthe presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi)and [ED]-X-X-X-L-[LI] endocytosis signal motifs within thecytosolic tails of transmembrane cargo molecules. AP-2 may alsoplay a role in maintaining normal post-endocytic traffickingthrough the ARF6-regulated, non-clathrin pathway. The AP-2 alphasubunit binds polyphosphoinositide-containing lipids, positioningAP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocyticaccessory proteins. The AP-2 alpha and AP-2 sigma subunits arethought to contribute to the recognition of the [ED]-X-X-X-L-[LI]motif (By similarity). {ECO:0000250, ECO:0000269|PubMed:12960147,ECO:0000269|PubMed:14745134, ECO:0000269|PubMed:15473838,ECO:0000269|PubMed:19033387}.

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 ZNF93_AP2A2


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 ZNF93_AP2A2


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
ZNF93FBLAP2A2HTT, DAB2, EPS15, SHC1, AMPH, CLTC, EPN1, TERF2, ARRB2, BIN1, GRB2, GRK5, AP2M1, APP, AP2A1, VCP, FN1, SMAD1, PAN2, EGFR, PPP6R3, RPA3, RPA2, RPA1, PIP5K1C, ATP1A1, MOV10, NXF1, NECAP2, LRFN4, AAGAB, ZBTB46, NTRK1, AP1B1, AP2S1, NAPA, NUTF2, AP2B1, EIF2B1, CLTB, DBN1, GAK, KIF11, IQGAP1, FAN1, LIMA1, GTSE1, YBX1, MCM2, ESR1, MEX3C, RNF126, NLGN3, DIEXF, MYO6, MTMR4, RUNDC3A, ARFGAP1, SNX9, GPBP1L1, GPR156, CLINT1, FCHO1, REPS1, LSR, CPSF4L, INTS4, UBC, OCRL, SLC2A8


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 ZNF93_AP2A2


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 ZNF93_AP2A2


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