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Fusion gene ID: 31534 |
FusionGeneSummary for RNF213_UVSSA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RNF213_UVSSA | Fusion gene ID: 31534 | Hgene | Tgene | Gene symbol | RNF213 | UVSSA | Gene ID | 57674 | 57654 |
| Gene name | ring finger protein 213 | UV stimulated scaffold protein A | |
| Synonyms | ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57 | KIAA1530|UVSS3 | |
| Cytomap | 17q25.3 | 4p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin | UV-stimulated scaffold protein A | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q63HN8 | Q2YD98 | |
| Ensembl transtripts involved in fusion gene | ENST00000508628, ENST00000456466, ENST00000582970, ENST00000319921, ENST00000336301, ENST00000427003, | ENST00000511216, ENST00000389851, ENST00000507531, ENST00000511563, ENST00000512728, ENST00000507422, | |
| Fusion gene scores | * DoF score | 22 X 22 X 12=5808 | 1 X 1 X 1=1 |
| # samples | 30 | 1 | |
| ** MAII score | log2(30/5808*10)=-4.27500704749987 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: RNF213 [Title/Abstract] AND UVSSA [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | RNF213 | GO:0016567 | protein ubiquitination | 21799892 |
| Hgene | RNF213 | GO:0051260 | protein homooligomerization | 24658080|26126547 |
| Hgene | RNF213 | GO:0051865 | protein autoubiquitination | 21799892 |
| 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 | UCS | TCGA-NA-A5I1-01A | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| * 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 | ENST00000508628 | ENST00000511216 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000508628 | ENST00000389851 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000508628 | ENST00000507531 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000508628 | ENST00000511563 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000508628 | ENST00000512728 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000508628 | ENST00000507422 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000456466 | ENST00000511216 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000456466 | ENST00000389851 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000456466 | ENST00000507531 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000456466 | ENST00000511563 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000456466 | ENST00000512728 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000456466 | ENST00000507422 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000582970 | ENST00000511216 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000582970 | ENST00000389851 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| Frame-shift | ENST00000582970 | ENST00000507531 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000582970 | ENST00000511563 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000582970 | ENST00000512728 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| 5CDS-intron | ENST00000582970 | ENST00000507422 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000319921 | ENST00000511216 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000319921 | ENST00000389851 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000319921 | ENST00000507531 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000319921 | ENST00000511563 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000319921 | ENST00000512728 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000319921 | ENST00000507422 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000336301 | ENST00000511216 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000336301 | ENST00000389851 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000336301 | ENST00000507531 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000336301 | ENST00000511563 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000336301 | ENST00000512728 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000336301 | ENST00000507422 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000427003 | ENST00000511216 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000427003 | ENST00000389851 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-3CDS | ENST00000427003 | ENST00000507531 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000427003 | ENST00000511563 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000427003 | ENST00000512728 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
| intron-intron | ENST00000427003 | ENST00000507422 | RNF213 | chr17 | 78308070 | + | UVSSA | chr4 | 1345503 | + |
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FusionProtFeatures for RNF213_UVSSA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RNF213 | UVSSA |
| Factor involved in transcription-coupled nucleotideexcision repair (TC-NER) in response to UV damage. TC-NER allowsRNA polymerase II-blocking lesions to be rapidly removed from thetranscribed strand of active genes. Acts by promotingstabilization of ERCC6 by recruiting deubiquitinating enzyme USP7to TC-NER complexes, preventing UV-induced degradation of ERCC6 bythe proteasome. Interacts with the elongating form of RNApolymerase II (RNA pol IIo) and facilitates its ubiquitination atUV damage sites, leading to promote RNA pol IIo backtracking toallow access to the nucleotide excision repair machinery. Notinvolved in processing oxidative damage.{ECO:0000269|PubMed:22466610, ECO:0000269|PubMed:22466611,ECO:0000269|PubMed:22466612}. |
| 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 RNF213_UVSSA |
| 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 RNF213_UVSSA |
| 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 |
| RNF213 | UBC, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLD | UVSSA | USP7, ERCC8, DDB1, GTF2H1, ERCC3, ERCC2, SETD1A, SIRT1, CDK7, SYNCRIP, BAG6 |
| - 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 RNF213_UVSSA |
| 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 RNF213_UVSSA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RNF213 | C1846689 | MOYAMOYA DISEASE 2 | 3 | UNIPROT |
| Tgene | UVSSA | C3551173 | UV-SENSITIVE SYNDROME 1 | 2 | CTD_human |
| Tgene | UVSSA | C3553328 | UV-SENSITIVE SYNDROME 3 | 1 | UNIPROT |
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