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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: 40514

FusionGeneSummary for UBE3A_CYP19A1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE3A_CYP19A1
Fusion gene ID: 40514
HgeneTgene
Gene symbol

UBE3A

CYP19A1

Gene ID

7337

1588

Gene nameubiquitin protein ligase E3Acytochrome P450 family 19 subfamily A member 1
SynonymsANCR|AS|E6-AP|EPVE6AP|HPVE6AARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM
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-APrenaaromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, family 19, subfamily A, polypeptide 1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monoo
Modification date2018052320180520
UniProtAcc

Q05086

P11511

Ensembl transtripts involved in fusion geneENST00000232165, ENST00000438097, 
ENST00000566215, ENST00000428984, 
ENST00000397954, 
ENST00000396402, 
ENST00000260433, ENST00000396404, 
ENST00000559878, ENST00000405913, 
ENST00000557858, ENST00000492852, 
Fusion gene scores* DoF score4 X 5 X 4=809 X 9 X 3=243
# samples 411
** MAII scorelog2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/243*10)=-1.14345279008112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBE3A [Title/Abstract] AND CYP19A1 [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

TgeneCYP19A1

GO:0006710

androgen catabolic process

26482249

TgeneCYP19A1

GO:2000866

positive regulation of estradiol secretion

26482249


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
TCGARVBRCATCGA-A8-A07G-01AUBE3Achr15

25650608

-CYP19A1chr15

51535147

-
* 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-5UTRENST00000232165ENST00000396402UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000232165ENST00000260433UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000232165ENST00000396404UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000232165ENST00000559878UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000232165ENST00000405913UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000232165ENST00000557858UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-intronENST00000232165ENST00000492852UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000438097ENST00000396402UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000438097ENST00000260433UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000438097ENST00000396404UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000438097ENST00000559878UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000438097ENST00000405913UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000438097ENST00000557858UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-intronENST00000438097ENST00000492852UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000566215ENST00000396402UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000566215ENST00000260433UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000566215ENST00000396404UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000566215ENST00000559878UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000566215ENST00000405913UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000566215ENST00000557858UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-intronENST00000566215ENST00000492852UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000428984ENST00000396402UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000428984ENST00000260433UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000428984ENST00000396404UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000428984ENST00000559878UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000428984ENST00000405913UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000428984ENST00000557858UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-intronENST00000428984ENST00000492852UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000397954ENST00000396402UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000397954ENST00000260433UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000397954ENST00000396404UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000397954ENST00000559878UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000397954ENST00000405913UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-5UTRENST00000397954ENST00000557858UBE3Achr15

25650608

-CYP19A1chr15

51535147

-
5CDS-intronENST00000397954ENST00000492852UBE3Achr15

25650608

-CYP19A1chr15

51535147

-

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FusionProtFeatures for UBE3A_CYP19A1


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

Q05086

CYP19A1

P11511

Catalyzes the formation of aromatic C18 estrogens fromC19 androgens.

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_CYP19A1


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_CYP19A1


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, WBP2CYP19A1RC3H2, CD109, H2AFX, CACNA2D1, NPLOC4


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_CYP19A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCYP19A1P11511DB00184NicotineAromatasesmall moleculeapproved
TgeneCYP19A1P11511DB00655EstroneAromatasesmall moleculeapproved
TgeneCYP19A1P11511DB00357AminoglutethimideAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB00990ExemestaneAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB01006LetrozoleAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB01026KetoconazoleAromatasesmall moleculeapproved|investigational
TgeneCYP19A1P11511DB01217AnastrozoleAromatasesmall moleculeapproved|investigational

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RelatedDiseases for UBE3A_CYP19A1


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
TgeneCYP19A1C1960539Aromatase deficiency6CTD_human;ORPHANET;UNIPROT
TgeneCYP19A1C0032460Polycystic Ovary Syndrome4CTD_human
TgeneCYP19A1C1458155Mammary Neoplasms3CTD_human
TgeneCYP19A1C0014175Endometriosis2CTD_human
TgeneCYP19A1C0033578Prostatic Neoplasms2CTD_human
TgeneCYP19A1C0001418Adenocarcinoma1CTD_human
TgeneCYP19A1C0002453Amenorrhea1CTD_human
TgeneCYP19A1C0004352Autistic Disorder1CTD_human
TgeneCYP19A1C0005974Bone Resorption1CTD_human
TgeneCYP19A1C0014859Esophageal Neoplasms1CTD_human
TgeneCYP19A1C0015695Fatty Liver1CTD_human
TgeneCYP19A1C0016059Fibrosis1CTD_human
TgeneCYP19A1C0020619Hypogonadism1CTD_human
TgeneCYP19A1C0020635Hypopituitarism1CTD_human
TgeneCYP19A1C0021361Female infertility1CTD_human;HPO
TgeneCYP19A1C0029456Osteoporosis1CTD_human;HPO
TgeneCYP19A1C0029928Ovarian Diseases1CTD_human
TgeneCYP19A1C0085207Gestational Diabetes1CTD_human
TgeneCYP19A1C0086132Depressive Symptoms1PSYGENET
TgeneCYP19A1C0236663Alcohol withdrawal syndrome1PSYGENET
TgeneCYP19A1C0242341Sexual Infantilism1CTD_human