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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: 40516

FusionGeneSummary for UBE3A_DTWD1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE3A_DTWD1
Fusion gene ID: 40516
HgeneTgene
Gene symbol

UBE3A

DTWD1

Gene ID

7337

56986

Gene nameubiquitin protein ligase E3ADTW domain containing 1
SynonymsANCR|AS|E6-AP|EPVE6AP|HPVE6AMDS009
Cytomap

15q11.2

15q21.2

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-protein ligase E3ACTCL tumor antigen se37-2E6AP ubiquitin-protein ligaseHECT-type ubiquitin transferase E3Ahuman papilloma virus E6-associated proteinhuman papillomavirus E6-associated proteinoncogenic protein-associated protein E6-APrenaDTW domain-containing protein 1x 009 protein
Modification date2018052320180519
UniProtAcc

Q05086

Q8N5C7

Ensembl transtripts involved in fusion geneENST00000232165, ENST00000438097, 
ENST00000566215, ENST00000428984, 
ENST00000397954, 		ENST00000403028, 
ENST00000329873, ENST00000559223, 
ENST00000558653, ENST00000251250, 
ENST00000415425, 
Fusion gene scores* DoF score4 X 5 X 4=802 X 2 X 2=8
# samples 42
** MAII scorelog2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: UBE3A [Title/Abstract] AND DTWD1 [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
HgeneUBE3A

GO:0031398

positive regulation of protein ubiquitination

17108031

HgeneUBE3A

GO:0032570

response to progesterone

16772533

HgeneUBE3A

GO:0050847

progesterone receptor signaling pathway

16772533

HgeneUBE3A

GO:0051865

protein autoubiquitination

24105792

HgeneUBE3A

GO:0070936

protein K48-linked ubiquitination

12890688


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
TCGARVCESCTCGA-IR-A3LB-01AUBE3Achr15

25620612

-DTWD1chr15

49917310

+
* 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
5CDS-5UTRENST00000232165ENST00000403028UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000232165ENST00000329873UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-3UTRENST00000232165ENST00000559223UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000232165ENST00000558653UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000232165ENST00000251250UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-intronENST00000232165ENST00000415425UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000438097ENST00000403028UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000438097ENST00000329873UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-3UTRENST00000438097ENST00000559223UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000438097ENST00000558653UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000438097ENST00000251250UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-intronENST00000438097ENST00000415425UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000566215ENST00000403028UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000566215ENST00000329873UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-3UTRENST00000566215ENST00000559223UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000566215ENST00000558653UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000566215ENST00000251250UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-intronENST00000566215ENST00000415425UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000428984ENST00000403028UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000428984ENST00000329873UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-3UTRENST00000428984ENST00000559223UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000428984ENST00000558653UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000428984ENST00000251250UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-intronENST00000428984ENST00000415425UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000397954ENST00000403028UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000397954ENST00000329873UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-3UTRENST00000397954ENST00000559223UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000397954ENST00000558653UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-5UTRENST00000397954ENST00000251250UBE3Achr15

25620612

-DTWD1chr15

49917310

+
5CDS-intronENST00000397954ENST00000415425UBE3Achr15

25620612

-DTWD1chr15

49917310

+

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FusionProtFeatures for UBE3A_DTWD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBE3A

Q05086

DTWD1

Q8N5C7


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 UBE3A_DTWD1


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 UBE3A_DTWD1


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
UBE3AUBQLN2, BPY2, PGR, BRCA1, BARD1, UBE2D2, UBE2D3, UBE2L3, LCK, BLK, TSC2, MCM7, UBE2D1, UBQLN1, ESR2, ESR1, RNF2, RAD23A, RAD23B, UBE3A, TP53, DLG1, SCRIB, CDKN1B, NELFCD, NDUFA13, ANXA1, MYH9, XRCC6, ACTA1, ANXA2, MYCBP2, GOLGA3, PHKA2, PHKB, C2orf44, PSMD3, PHKG2, CALM2, CALM1, PHKG1, PSMD4, FAF2, UBXN1, HSPA4, HSPA8, CFTR, PRDX1, PML, ARHGEF15, NOMO2, PDE1B, EID1, SUMO3, C11orf49, PARVA, YWHAE, SGK223, TCF19, HPCAL4, RMI1, TRIM65, POLE4, JADE1, HBA1, EIF4G1, AFTPH, TBC1D14, CEBPZ, YWHAZ, TTC3, PSAP, NCOA3, MAPK6, HIF1AN, NEURL4, HERC2, UBE2L6, UBC, SHBG, ASPM, EAPP, RARA, SCAMP1, SOD1, MDM2, APP, TXNL1, SF3B3, USP14, UNC45A, UFD1L, SRSF9, LSM5, DDX39B, TNPO3, AR, CEBPA, SACS, ARC, PTPN3, DR1, HSF1, IPO11, LSM1, ARPC1B, BTF3L4, DBNL, P3H1, LPP, LRSAM1, METTL1, NPLOC4, ARNTL, SHFM1, PSMD14, YOD1, MAGEA8, MEOX2, TAT, AFG3L1P, UBB, AHSP, ASAP3, ATG9A, KLHL38, UBE2E1, ADRM1, UCHL5, PSMC3, ARNTL2, SRPRB, CELA2B, MAGEA1, PLAUR, TRPV5, NTRK1, PSMC1, KRT1, KRT6B, PDIA3, ACTR3, GFAP, MNT, PDIA6, KRT7, CALR, KRT9, GTF3C1, KRT5, HSPA5, MDM1, ACTB, ACTBL2, TALDO1, ACTA2, HSP90AB1, RPS15A, SPINK1, ARHGDIB, SENP3, CTNNB1, GSK3B, ZNF746, E2F1, NSUN2, KDELR1, SMARCC2, COPS7B, MAP7D2, FUZ, RPH3A, FAM167A, SERHL2, COPS6, WBP2DTWD1APP, SPACA1


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 UBE3A_DTWD1


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 UBE3A_DTWD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBE3AC0004352Autistic Disorder3CTD_human;HPO
HgeneUBE3AC0014544Epilepsy1CTD_human;HPO
HgeneUBE3AC0162635Angelman Syndrome1CTD_human
HgeneUBE3AC0376634Craniofacial Abnormalities1CTD_human