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Fusion gene ID: 41199 |
FusionGeneSummary for USP6NL_RNF216 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: USP6NL_RNF216 | Fusion gene ID: 41199 | Hgene | Tgene | Gene symbol | USP6NL | RNF216 | Gene ID | 9712 | 54476 |
| Gene name | USP6 N-terminal like | ring finger protein 216 | |
| Synonyms | RNTRE|TRE2NL|USP6NL-IT1 | CAHH|TRIAD3|U7I1|UBCE7IP1|ZIN | |
| Cytomap | 10p14 | 7p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | USP6 N-terminal-like proteinrelated to the N-terminus of tre | E3 ubiquitin-protein ligase RNF216RING-type E3 ubiquitin transferase RNF216triad domain-containing protein 3ubiquitin-conjugating enzyme 7-interacting protein 1zinc finger protein inhibiting NF-kappa-B | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q92738 | Q9NWF9 | |
| Ensembl transtripts involved in fusion gene | ENST00000609104, ENST00000277575, ENST00000379237, ENST00000443016, ENST00000609853, | ENST00000425013, ENST00000389902, ENST00000469375, | |
| Fusion gene scores | * DoF score | 17 X 12 X 9=1836 | 12 X 13 X 9=1404 |
| # samples | 18 | 21 | |
| ** MAII score | log2(18/1836*10)=-3.35049724708413 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(21/1404*10)=-2.74108170263844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: USP6NL [Title/Abstract] AND RNF216 [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 | USP6NL | GO:0043547 | positive regulation of GTPase activity | 17562788 |
| Tgene | RNF216 | GO:0032648 | regulation of interferon-beta production | 19893624 |
| Tgene | RNF216 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 19893624 |
| Tgene | RNF216 | GO:0050691 | regulation of defense response to virus by host | 19893624 |
| Tgene | RNF216 | GO:0070936 | protein K48-linked ubiquitination | 19893624 |
| 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-25-1323-01A | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| * 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 |
| Frame-shift | ENST00000609104 | ENST00000425013 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| Frame-shift | ENST00000609104 | ENST00000389902 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| 5CDS-5UTR | ENST00000609104 | ENST00000469375 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000277575 | ENST00000425013 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000277575 | ENST00000389902 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-5UTR | ENST00000277575 | ENST00000469375 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000379237 | ENST00000425013 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000379237 | ENST00000389902 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-5UTR | ENST00000379237 | ENST00000469375 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000443016 | ENST00000425013 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000443016 | ENST00000389902 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-5UTR | ENST00000443016 | ENST00000469375 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000609853 | ENST00000425013 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-3CDS | ENST00000609853 | ENST00000389902 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
| intron-5UTR | ENST00000609853 | ENST00000469375 | USP6NL | chr10 | 11639630 | - | RNF216 | chr7 | 5663756 | - |
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FusionProtFeatures for USP6NL_RNF216 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| USP6NL | RNF216 |
| Acts as a GTPase-activating protein for RAB5A and RAB43.Involved in receptor trafficking. In complex with EPS8 inhibitsinternalization of EGFR. Involved in retrograde transport from theendocytic pathway to the Golgi apparatus. Involved in thetransport of Shiga toxin from early and recycling endosomes to thetrans-Golgi network. Required for structural integrity of theGolgi complex. {ECO:0000269|PubMed:11099046,ECO:0000269|PubMed:17562788, ECO:0000269|PubMed:17684057}. | Isoform 1 acts as an E3 ubiquitin ligase, which acceptsubiquitin from specific E2 ubiquitin-conjugating enzymes, and thentransfers it to substrates promoting their degradation by theproteasome. Promotes degradation of TRAF3, TLR4 and TLR9.Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNBproduction. Isoform 3 inhibits TNF and IL-1 mediated activation ofNF-kappa-B. Promotes TNF and RIP mediated apoptosis.{ECO:0000269|PubMed:15107846, ECO:0000269|PubMed:19893624}. |
| 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 USP6NL_RNF216 |
| 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 USP6NL_RNF216 |
| 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 |
| USP6NL | ACTN4, GRB2, APP, WWOX, SHMT2, NXF1, TMEM17, CCNA2, COMT, ANAPC15, UBE2S, CDH1 | RNF216 | TLR3, TLR4, TLR5, TLR9, UBE2H, UBE2L3, UBE2C, UBE2L6, RNF216, RIPK1, TIRAP, TICAM1, KIR2DL4, TRAF3, BRCA1, RNF11, MOV10, NXF1, XPO1, BECN1, ARC, UBE2D3, TRIM25 |
| - 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 USP6NL_RNF216 |
| 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 USP6NL_RNF216 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | USP6NL | C0025202 | melanoma | 1 | CTD_human |
| Tgene | RNF216 | C1859305 | Cerebellar Ataxia and Hypogonadotropic Hypogonadism | 1 | ORPHANET;UNIPROT |
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