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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: 40966

FusionGeneSummary for USP12_E2F3

check button Fusion gene summary
Fusion gene informationFusion gene name: USP12_E2F3
Fusion gene ID: 40966
HgeneTgene
Gene symbol

USP12

E2F3

Gene ID

219333

1871

Gene nameubiquitin specific peptidase 12E2F transcription factor 3
SynonymsUBH1|USP12L1E2F-3
Cytomap

13q12.13

6p22.3

Type of geneprotein-codingprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 12deubiquitinating enzyme 12ubiquitin specific protease 12 like 1ubiquitin thioesterase 12ubiquitin thiolesterase 12ubiquitin-hydrolyzing enzyme 1ubiquitin-specific-processing protease 12transcription factor E2F3
Modification date2018051920180520
UniProtAcc

O75317

O00716

Ensembl transtripts involved in fusion geneENST00000282344, ENST00000346618, 
ENST00000535432, 
Fusion gene scores* DoF score5 X 3 X 5=751 X 1 X 1=1
# samples 51
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: USP12 [Title/Abstract] AND E2F3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneUSP12

GO:0016579

protein deubiquitination

19075014|24145035

TgeneE2F3

GO:0045944

positive regulation of transcription by RNA polymerase II

7739537


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
TCGARVBLCATCGA-GC-A3RB-01AUSP12chr13

27664020

-E2F3chr6

20480077

+
* 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-shitENST00000282344ENST00000346618USP12chr13

27664020

-E2F3chr6

20480077

+
Frame-shitENST00000282344ENST00000535432USP12chr13

27664020

-E2F3chr6

20480077

+

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FusionProtFeatures for USP12_E2F3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USP12

O75317

E2F3

O00716

Deubiquitinating enzyme. Has almost no deubiquitinatingactivity by itself and requires the interaction with WDR20 andWDR48 to have a high activity (PubMed:19075014, PubMed:27373336).Not involved in deubiquitination of monoubiquitinated FANCD2(PubMed:19075014). In complex with WDR48, acts as a potentialtumor suppressor by positively regulating PHLPP1 stability(PubMed:24145035). {ECO:0000269|PubMed:19075014,ECO:0000269|PubMed:24145035, ECO:0000269|PubMed:27373336}. Transcription activator that binds DNA cooperativelywith DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whoseproducts are involved in cell cycle regulation or in DNAreplication. The DRTF1/E2F complex functions in the control ofcell-cycle progression from G1 to S phase. E2F3 binds specificallyto RB1 in a cell-cycle dependent manner. Inhibits adipogenesis,probably through the repression of CEBPA binding to its targetgene promoters (By similarity). {ECO:0000250|UniProtKB:O35261}.

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 USP12_E2F3


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 USP12_E2F3


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
USP12DHX8, DMWD, MMP2, PAIP1, RAD51AP1, USP39, PHLPP2, PHLPP1, NUP160, SDF4, UCHL5, WDR48, WDR20, USP46, HIST2H2AC, WDR26, WDR77, HIST2H2BE, ITCH, APP, AR, UBC, NOTCH1, VSX2, CBLB, ZAP70, LAT, GRB2, TRAT1, TSPYL6, GORASP1, RNF19B, GPR161, VSX1, HSPB9E2F3TFE3, WNK1, PKIB, CREBBP, TEAD3, MYBL2, MGA, SPIB, RYBP, FHL2, RNF144A, KMT2D, USF1, HCFC1, ATAD2, BCL6, HELLS, CCNB1, RBL1, MCM4, PCNA, ELAVL1, FZR1, RB1, SRA1, TFDP1, TRIM28, HDAC1, TFDP3, TFDP2, MSH2, DNMT3L, UCHL5, 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 USP12_E2F3


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 USP12_E2F3


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