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Fusion gene ID: 31428 |
FusionGeneSummary for RNF138_VWC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RNF138_VWC2 | Fusion gene ID: 31428 | Hgene | Tgene | Gene symbol | RNF138 | VWC2 | Gene ID | 51444 | 375567 |
| Gene name | ring finger protein 138 | von Willebrand factor C domain containing 2 | |
| Synonyms | HSD-4|NARF|STRIN|hNARF | PSST739|UNQ739 | |
| Cytomap | 18q12.1 | 7p12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF138NLK-associated RING finger proteinNemo-like kinase-associated RING finger proteinRING-type E3 ubiquitin transferase RNF138nemo-like kinase associated ring finger proteinring finger protein 138, E3 ubiquitin protein l | brorinbrain-specific chordin-like proteinvon Willebrand factor C domain-containing protein 2 | |
| Modification date | 20180522 | 20180329 | |
| UniProtAcc | Q8WVD3 | Q2TAL6 | |
| Ensembl transtripts involved in fusion gene | ENST00000261593, ENST00000585103, ENST00000257190, | ENST00000340652, | |
| Fusion gene scores | * DoF score | 2 X 2 X 3=12 | 5 X 2 X 4=40 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RNF138 [Title/Abstract] AND VWC2 [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-09-0369-01A | RNF138 | chr18 | 29672198 | + | VWC2 | chr7 | 49842307 | + |
| * 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 | ENST00000261593 | ENST00000340652 | RNF138 | chr18 | 29672198 | + | VWC2 | chr7 | 49842307 | + |
| 3UTR-3CDS | ENST00000585103 | ENST00000340652 | RNF138 | chr18 | 29672198 | + | VWC2 | chr7 | 49842307 | + |
| intron-3CDS | ENST00000257190 | ENST00000340652 | RNF138 | chr18 | 29672198 | + | VWC2 | chr7 | 49842307 | + |
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FusionProtFeatures for RNF138_VWC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RNF138 | VWC2 |
| E3 ubiquitin-protein ligase involved in DNA damageresponse by promoting DNA resection and homologous recombination(PubMed:26502055, PubMed:26502057). Recruited to sites of double-strand breaks following DNA damage and specifically promotesdouble-strand break repair via homologous recombination(PubMed:26502055, PubMed:26502057). Two different, non-exclusive,mechanisms have been proposed. According to a report, regulatesthe choice of double-strand break repair by favoring homologousrecombination over non-homologous end joining (NHEJ): acts bymediating ubiquitination of XRCC5/Ku80, leading to remove the Kucomplex from DNA breaks, thereby promoting homologousrecombination (PubMed:26502055). According to another report,cooperates with UBE2Ds E2 ubiquitin ligases (UBE2D1, UBE2D2,UBE2D3 or UBE2D4) to promote homologous recombination by mediatingubiquitination of RBBP8/CtIP (PubMed:26502057). Together with NLK,involved in the ubiquitination and degradation of TCF/LEF(PubMed:16714285). Also exhibits auto-ubiquitination activity incombination with UBE2K (PubMed:16714285). May act as a negativeregulator in the Wnt/beta-catenin-mediated signaling pathway(PubMed:16714285). {ECO:0000269|PubMed:16714285,ECO:0000269|PubMed:26502055, ECO:0000269|PubMed:26502057}. | BMP antagonist which may play a role in neuraldevelopment. Promotes cell adhesion (By similarity).{ECO:0000250}. |
| 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 RNF138_VWC2 |
| 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 RNF138_VWC2 |
| 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 |
| RNF138 | C6orf165, UBE2D4, UBE2K, UBE2D2, UBE2W, ELAVL1, COPS5, COPS6, PCBP4, QKI, TAF9, APP, TRIM8, LNX2, LEF1, MAPK14, TRPV5, BZW1, NAP1L5, TCF7L2, XPO1, UBXN7, RAD51D, LYAR, EEF1A1, HDAC1, RBBP4, NECAB1, C16orf71, TULP3, JMJD6, FAM136A, COPS8, FRYL, WDR4, PRICKLE3, ARIH1, CPNE2, GPR156, CCDC120, TNFRSF1A | VWC2 |
| - 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 RNF138_VWC2 |
| 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 RNF138_VWC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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