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Fusion gene ID: 41169 |
FusionGeneSummary for USP53_SYNPO2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: USP53_SYNPO2 | Fusion gene ID: 41169 | Hgene | Tgene | Gene symbol | USP53 | SYNPO2 | Gene ID | 54532 | 171024 |
| Gene name | ubiquitin specific peptidase 53 | synaptopodin 2 | |
| Synonyms | - | - | |
| Cytomap | 4q26 | 4q26 | |
| Type of gene | protein-coding | protein-coding | |
| Description | inactive ubiquitin carboxyl-terminal hydrolase 53inactive ubiquitin-specific peptidase 53ubiquitin specific protease 53ubiquitin specific proteinase 53 | synaptopodin-2genethonin-2myopodin | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q70EK8 | Q9UMS6 | |
| Ensembl transtripts involved in fusion gene | ENST00000274030, ENST00000450251, ENST00000510737, | ENST00000307142, ENST00000448416, ENST00000429713, ENST00000434046, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 7 X 6 X 3=126 |
| # samples | 4 | 8 | |
| ** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: USP53 [Title/Abstract] AND SYNPO2 [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 |
| 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 | LD | OV | TCGA-24-2033-01A | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| * 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 |
| 5UTR-3CDS | ENST00000274030 | ENST00000307142 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| 5UTR-3CDS | ENST00000274030 | ENST00000448416 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| 5UTR-3CDS | ENST00000274030 | ENST00000429713 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| 5UTR-3CDS | ENST00000274030 | ENST00000434046 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| intron-3CDS | ENST00000450251 | ENST00000307142 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| intron-3CDS | ENST00000450251 | ENST00000448416 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| intron-3CDS | ENST00000450251 | ENST00000429713 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| intron-3CDS | ENST00000450251 | ENST00000434046 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| 3UTR-3CDS | ENST00000510737 | ENST00000307142 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| 3UTR-3CDS | ENST00000510737 | ENST00000448416 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| 3UTR-3CDS | ENST00000510737 | ENST00000429713 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
| 3UTR-3CDS | ENST00000510737 | ENST00000434046 | USP53 | chr4 | 120138828 | + | SYNPO2 | chr4 | 119944585 | + |
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FusionProtFeatures for USP53_SYNPO2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| USP53 | SYNPO2 |
| Tight junction-associated protein that is involved inthe survival of auditory hair cells and hearing. Maybe bymodulating the barrier properties and mechanical stability oftight junctions (By similarity). Has no peptidase activity(PubMed:14715245). {ECO:0000250|UniProtKB:P15975,ECO:0000269|PubMed:14715245}. | Has an actin-binding and actin-bundling activity. Caninduce the formation of F-actin networks in an isoform-specificmanner (PubMed:24005909, PubMed:23225103). At the sarcomeric Zlines is proposed to act as adapter protein that links nascentmyofibers to the sarcolemma via ZYX and may play a role in earlyassembly and stabilization of the Z lines. Involved inautophagosome formation. May play a role in chaperone-assistedselective autophagy (CASA) involved in Z lines maintenance instriated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering andfusion complex providing autophagosome membranes (By similarity).Involved in regulation of cell migration (PubMed:22915763,PubMed:25883213). May be a tumor suppressor (PubMed:16885336).{ECO:0000250|UniProtKB:D4A702, ECO:0000250|UniProtKB:Q91YE8,ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:23225103,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213,ECO:0000305|PubMed:16885336, ECO:0000305|PubMed:20554076}. Isoform 1: Involved in regulation of cell migration. Caninduce formation of thick, irregular actin bundles in the cellbody. {ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 2: Involved in regulation of cell migration. Caninduce long, well-organized actin bundles frequently orientated inparallel along the long axis of the cell showing characteristicsof contractile ventral stress fibers.{ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 3: Involved in regulation of cell migration. Caninduce an amorphous actin meshwork throughout the cell bodycontaining a mixture of long and short, randomly organized thickand thin actin bundles. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909}. Isoform 4: Can induce long, well-organized actin bundlesfrequently orientated in parallel along the long axis of the cellshowing characteristics of contractile ventral stress fibers.{ECO:0000269|PubMed:24005909}. Isoform 5: Involved in regulation of cell migration inpart dependent on the Rho-ROCK cascade; can promote formation ofnascent focal adhesions, actin bundles at the leading cell edgeand lamellipodia (PubMed:22915763, PubMed:25883213). Can induceformation of thick, irregular actin bundles in the cell body; theinduced actin network is associated with enhanced cell migrationin vitro. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213}. |
| 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 USP53_SYNPO2 |
| 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 USP53_SYNPO2 |
| 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 |
| USP53 | TRAF2, ANXA2P2, ARG1, AZGP1, BLMH, CAT, CSTA, DSG1, FLNC, HCFC1, PPP2R1B, PSMA6, RPL26, TGM3, RAD50, CASP14, CPNE7, YAE1D1, KRT77, GRB2, DDB2, IREB2, PVRL2, DAB1, ZEB1, TRIM25 | SYNPO2 | YWHAG, YWHAZ, IPO13, CDK6, BAG3, HSPA8, SQSTM1, FLNA, VPS18, ATG16L1, MAP1LC3A, STX7, FLNC, ACTN2, NTRK1, RHOA, PLK4, POLK |
| - 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 USP53_SYNPO2 |
| 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 |
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RelatedDiseases for USP53_SYNPO2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SYNPO2 | C0677886 | Epithelial ovarian cancer | 1 | CTD_human |
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