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Fusion gene ID: 40962 |
FusionGeneSummary for USP11_SAV1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: USP11_SAV1 | Fusion gene ID: 40962 | Hgene | Tgene | Gene symbol | USP11 | SAV1 | Gene ID | 8237 | 60485 |
| Gene name | ubiquitin specific peptidase 11 | salvador family WW domain containing protein 1 | |
| Synonyms | UHX1 | SAV|WW45|WWP4 | |
| Cytomap | Xp11.3 | 14q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquitin carboxyl-terminal hydrolase 11deubiquitinating enzyme 11ubiquitin carboxyl-terminal hydrolase, X-linkedubiquitin thioesterase 11ubiquitin thiolesterase 11ubiquitin-specific processing protease 11 | protein salvador homolog 11700040G09Rik45 kDa WW domain proteinWW domain-containing adaptor 45hWW45salvador homolog 1 | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | P51784 | Q9H4B6 | |
| Ensembl transtripts involved in fusion gene | ENST00000377107, ENST00000218348, | ENST00000324679, | |
| Fusion gene scores | * DoF score | 5 X 7 X 1=35 | 4 X 3 X 4=48 |
| # samples | 8 | 4 | |
| ** MAII score | log2(8/35*10)=1.1926450779424 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: USP11 [Title/Abstract] AND SAV1 [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 | USP11 | GO:0016579 | protein deubiquitination | 15314155 |
| 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 |
| ChiTaRS3.1 | N29021 | USP11 | chrX | 47107501 | + | SAV1 | chr14 | 51111547 | - |
| * 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 |
| 3UTR-3CDS | ENST00000377107 | ENST00000324679 | USP11 | chrX | 47107501 | + | SAV1 | chr14 | 51111547 | - |
| 3UTR-3CDS | ENST00000218348 | ENST00000324679 | USP11 | chrX | 47107501 | + | SAV1 | chr14 | 51111547 | - |
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FusionProtFeatures for USP11_SAV1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| USP11 | SAV1 |
| Protease that can remove conjugated ubiquitin fromtarget proteins and polyubiquitin chains (PubMed:12084015,PubMed:15314155, PubMed:17897950, PubMed:19874889,PubMed:20233726, PubMed:24724799). Inhibits the degradation oftarget proteins by the proteasome (PubMed:12084015). Cleavespreferentially 'Lys-6' and 'Lys-63'-linked ubiquitin chains. Haslower activity with 'Lys-11' and 'Lys-33'-linked ubiquitin chains,and extremely low activity with 'Lys-27', 'Lys-29' and 'Lys-48'-linked ubiquitin chains (in vitro) (PubMed:24724799). Plays a rolein the regulation of pathways leading to NF-kappa-B activation(PubMed:17897950, PubMed:19874889). Plays a role in the regulationof DNA repair after double-stranded DNA breaks (PubMed:15314155,PubMed:20233726). Acts as a chromatin regulator via itsassociation with the Polycomb group (PcG) multiprotein PRC1-likecomplex; may act by deubiquitinating components of the PRC1-likecomplex (PubMed:20601937). {ECO:0000269|PubMed:15314155,ECO:0000269|PubMed:17897950, ECO:0000269|PubMed:18408009,ECO:0000269|PubMed:19874889, ECO:0000269|PubMed:20233726,ECO:0000269|PubMed:24724799}. | Regulator of STK3/MST2 and STK4/MST1 in the Hipposignaling pathway which plays a pivotal role in organ size controland tumor suppression by restricting proliferation and promotingapoptosis. The core of this pathway is composed of a kinasecascade wherein STK3/MST2 and STK4/MST1, in complex with itsregulatory protein SAV1, phosphorylates and activates LATS1/2 incomplex with its regulatory protein MOB1, which in turnphosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ.Phosphorylation of YAP1 by LATS1/2 inhibits its translocation intothe nucleus to regulate cellular genes important for cellproliferation, cell death, and cell migration. SAV1 is requiredfor STK3/MST2 and STK4/MST1 activation and promotes cell-cycleexit and terminal differentiation in developing epithelialtissues. Plays a role in centrosome disjunction by regulating thelocalization of NEK2 to centrosomes, and its ability tophosphorylate CROCC and CEP250. In conjunction with STK3/MST2,activates the transcriptional activity of ESR1 through themodulation of its phosphorylation. {ECO:0000269|PubMed:16930133,ECO:0000269|PubMed:19212654, ECO:0000269|PubMed:21076410,ECO:0000269|PubMed:21104395}. |
| 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 USP11_SAV1 |
| 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 USP11_SAV1 |
| 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 |
| - 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 USP11_SAV1 |
| 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 USP11_SAV1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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