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Fusion gene ID: 40514 |
FusionGeneSummary for UBE3A_CYP19A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UBE3A_CYP19A1 | Fusion gene ID: 40514 | Hgene | Tgene | Gene symbol | UBE3A | CYP19A1 | Gene ID | 7337 | 1588 |
| Gene name | ubiquitin protein ligase E3A | cytochrome P450 family 19 subfamily A member 1 | |
| Synonyms | ANCR|AS|E6-AP|EPVE6AP|HPVE6A | ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM | |
| Cytomap | 15q11.2 | 15q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquitin-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-APrena | aromatasecytochrome P-450AROMcytochrome P450 19A1cytochrome P450, family 19, subfamily A, polypeptide 1cytochrome P450, subfamily XIX (aromatization of androgens)estrogen synthaseestrogen synthetaseflavoprotein-linked monooxygenasemicrosomal monoo | |
| Modification date | 20180523 | 20180520 | |
| UniProtAcc | Q05086 | P11511 | |
| Ensembl transtripts involved in fusion gene | ENST00000232165, ENST00000438097, ENST00000566215, ENST00000428984, ENST00000397954, | ENST00000396402, ENST00000260433, ENST00000396404, ENST00000559878, ENST00000405913, ENST00000557858, ENST00000492852, | |
| Fusion gene scores | * DoF score | 4 X 5 X 4=80 | 9 X 9 X 3=243 |
| # samples | 4 | 11 | |
| ** MAII score | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | UBE3A | GO:0031398 | positive regulation of protein ubiquitination | 17108031 |
| Hgene | UBE3A | GO:0032570 | response to progesterone | 16772533 |
| Hgene | UBE3A | GO:0050847 | progesterone receptor signaling pathway | 16772533 |
| Hgene | UBE3A | GO:0051865 | protein autoubiquitination | 24105792 |
| Hgene | UBE3A | GO:0070936 | protein K48-linked ubiquitination | 12890688 |
| Tgene | CYP19A1 | GO:0006710 | androgen catabolic process | 26482249 |
| Tgene | CYP19A1 | GO:2000866 | positive regulation of estradiol secretion | 26482249 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-A8-A07G-01A | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000232165 | ENST00000396402 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000232165 | ENST00000260433 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000232165 | ENST00000396404 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000232165 | ENST00000559878 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000232165 | ENST00000405913 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000232165 | ENST00000557858 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-intron | ENST00000232165 | ENST00000492852 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000438097 | ENST00000396402 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000438097 | ENST00000260433 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000438097 | ENST00000396404 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000438097 | ENST00000559878 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000438097 | ENST00000405913 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000438097 | ENST00000557858 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-intron | ENST00000438097 | ENST00000492852 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000566215 | ENST00000396402 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000566215 | ENST00000260433 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000566215 | ENST00000396404 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000566215 | ENST00000559878 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000566215 | ENST00000405913 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000566215 | ENST00000557858 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-intron | ENST00000566215 | ENST00000492852 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000428984 | ENST00000396402 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000428984 | ENST00000260433 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000428984 | ENST00000396404 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000428984 | ENST00000559878 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000428984 | ENST00000405913 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000428984 | ENST00000557858 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-intron | ENST00000428984 | ENST00000492852 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000397954 | ENST00000396402 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000397954 | ENST00000260433 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000397954 | ENST00000396404 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000397954 | ENST00000559878 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000397954 | ENST00000405913 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-5UTR | ENST00000397954 | ENST00000557858 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
| 5CDS-intron | ENST00000397954 | ENST00000492852 | UBE3A | chr15 | 25650608 | - | CYP19A1 | chr15 | 51535147 | - |
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FusionProtFeatures for UBE3A_CYP19A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UBE3A | CYP19A1 |
| Catalyzes the formation of aromatic C18 estrogens fromC19 androgens. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for UBE3A_CYP19A1 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| UBE3A | UBQLN2, 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, WBP2 | CYP19A1 | RC3H2, CD109, H2AFX, CACNA2D1, NPLOC4 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for UBE3A_CYP19A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | CYP19A1 | P11511 | DB00184 | Nicotine | Aromatase | small molecule | approved |
| Tgene | CYP19A1 | P11511 | DB00655 | Estrone | Aromatase | small molecule | approved |
| Tgene | CYP19A1 | P11511 | DB00357 | Aminoglutethimide | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB00990 | Exemestane | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB01006 | Letrozole | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB01026 | Ketoconazole | Aromatase | small molecule | approved|investigational |
| Tgene | CYP19A1 | P11511 | DB01217 | Anastrozole | Aromatase | small molecule | approved|investigational |
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RelatedDiseases for UBE3A_CYP19A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | UBE3A | C0004352 | Autistic Disorder | 3 | CTD_human;HPO |
| Hgene | UBE3A | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| Hgene | UBE3A | C0162635 | Angelman Syndrome | 1 | CTD_human |
| Hgene | UBE3A | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | CYP19A1 | C1960539 | Aromatase deficiency | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CYP19A1 | C0032460 | Polycystic Ovary Syndrome | 4 | CTD_human |
| Tgene | CYP19A1 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| Tgene | CYP19A1 | C0014175 | Endometriosis | 2 | CTD_human |
| Tgene | CYP19A1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Tgene | CYP19A1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | CYP19A1 | C0002453 | Amenorrhea | 1 | CTD_human |
| Tgene | CYP19A1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | CYP19A1 | C0005974 | Bone Resorption | 1 | CTD_human |
| Tgene | CYP19A1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | CYP19A1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | CYP19A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | CYP19A1 | C0020619 | Hypogonadism | 1 | CTD_human |
| Tgene | CYP19A1 | C0020635 | Hypopituitarism | 1 | CTD_human |
| Tgene | CYP19A1 | C0021361 | Female infertility | 1 | CTD_human;HPO |
| Tgene | CYP19A1 | C0029456 | Osteoporosis | 1 | CTD_human;HPO |
| Tgene | CYP19A1 | C0029928 | Ovarian Diseases | 1 | CTD_human |
| Tgene | CYP19A1 | C0085207 | Gestational Diabetes | 1 | CTD_human |
| Tgene | CYP19A1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| Tgene | CYP19A1 | C0236663 | Alcohol withdrawal syndrome | 1 | PSYGENET |
| Tgene | CYP19A1 | C0242341 | Sexual Infantilism | 1 | CTD_human |
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