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Fusion gene ID: 31416 |
FusionGeneSummary for RNF126_PRSS57 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RNF126_PRSS57 | Fusion gene ID: 31416 | Hgene | Tgene | Gene symbol | RNF126 | PRSS57 | Gene ID | 55658 | 400668 |
| Gene name | ring finger protein 126 | serine protease 57 | |
| Synonyms | - | NSP4|PRSSL1|UNQ782 | |
| Cytomap | 19p13.3 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF126 | serine protease 57neutrophil serine protease 4protease, serine 57serine protease 1-like protein 1 | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | Q9BV68 | Q6UWY2 | |
| Ensembl transtripts involved in fusion gene | ENST00000292363, | ENST00000329267, | |
| Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RNF126 [Title/Abstract] AND PRSS57 [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 | RNF126 | GO:0006511 | ubiquitin-dependent protein catabolic process | 24981174 |
| Hgene | RNF126 | GO:0006513 | protein monoubiquitination | 23277564 |
| Hgene | RNF126 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 24981174 |
| Tgene | PRSS57 | GO:0006508 | proteolysis | 22474388|25156428 |
| 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 | RV | HNSC | TCGA-CN-A6V6-01A | RNF126 | chr19 | 649679 | - | PRSS57 | chr19 | 687188 | - |
| * 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 |
| In-frame | ENST00000292363 | ENST00000329267 | RNF126 | chr19 | 649679 | - | PRSS57 | chr19 | 687188 | - |
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FusionProtFeatures for RNF126_PRSS57 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RNF126 | PRSS57 |
| E3 ubiquitin-protein ligase that mediates ubiquitinationoF target proteins (PubMed:23277564, PubMed:24275455,PubMed:24981174). Depending on the associated E2 ligase, mediates'Lys-48'- and 'Lys-63'-linked polyubiquitination of substrates (Bysimilarity). Part of a BAG6-dependent quality control processensuring that proteins of the secretory pathway that aremislocalized to the cytosol are degraded by the proteasome.Probably acts by providing the ubiquitin ligase activityassociated with the BAG6 complex and be responsible forubiquitination of the hydrophobic mislocalized proteins and theirtargeting to the proteasome (PubMed:24981174, PubMed:29042515).May also play a role in the endosomal recycling of IGF2R, thecation-independent mannose-6-phosphate receptor (PubMed:24275455).May play a role in the endosomal sorting and degradation ofseveral membrane receptors including EGFR, FLT3, MET and CXCR4, bymediating their ubiquitination (PubMed:23418353). Byubiquitinating CDKN1A/p21 and targeting it for degradation, mayalso promote cell proliferation (PubMed:23026136). Maymonoubiquitinate AICDA (PubMed:23277564).{ECO:0000250|UniProtKB:Q91YL2, ECO:0000269|PubMed:23277564,ECO:0000269|PubMed:23418353, ECO:0000269|PubMed:24275455,ECO:0000269|PubMed:24981174, ECO:0000269|PubMed:29042515,ECO:0000305|PubMed:23026136}. | Serine protease that cleaves preferentially after Argresidues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Canalso cleave after citrulline (deimidated arginine) andmethylarginine residues (PubMed:25156428).{ECO:0000269|PubMed:22474388, ECO:0000269|PubMed:23904161,ECO:0000269|PubMed:25156428}. |
| 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 |
| Hgene | RNF126 | chr19:649679 | chr19:687188 | ENST00000292363 | - | 6 | 9 | 13_32 | 192 | 312 | Zinc finger | C4-type |
| - 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 |
| Hgene | >RNF126 | chr19:649679 | chr19:687188 | ENST00000292363 | - | 6 | 9 | 289_303 | 192 | 312 | Compositional bias | Note=Ser-rich |
| Hgene | >RNF126 | chr19:649679 | chr19:687188 | ENST00000292363 | - | 6 | 9 | 229_270 | 192 | 312 | Zinc finger | RING-type |
| Tgene | PRSS57 | chr19:649679 | chr19:687188 | ENST00000329267 | - | 2 | 5 | 34_263 | 127 | 284 | Domain | Peptidase S1 |
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FusionGeneSequence for RNF126_PRSS57 |
| 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 RNF126_PRSS57 |
| 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 |
| RNF126 | UBE2D1, UBE2D4, PSMF1, UBE2D3, UBE2D2, TSG101, UBC, FAF2, SNUPN, NUDT3, CSNK2B, PLK1, HMGCL, CDKN1A, RNF126, USP2, USP15, OTUB1, OTUB2, VCP, UBE2N, EGFR, SCAMP3, METTL21B, UBL4A, AICDA, TRIM11, TRIM52, RBX1, TRIM26, TRIM23, MDM2, SHFM1, BAG6, MAP3K1, UBB, GET4, FAM63A, TAX1BP1, LRWD1, ABCB6, CRYM, ASNA1, SKP2, SLC25A16, PJA1, WRAP73, APOD, KIAA0100, KLHL42, CAPN15, E2F1, SMC3, RAD50, RNF20, SMC1A, PFKP, SKIV2L2, POLD1, RRM1, SLC25A5, XPOT, USP7, SART3, QARS, AGL, AP2A2, ATP2A2, COPA, COPB1, COPB2, COPG1, DIS3, EIF3A, EIF4G2, EPRS, GFPT1, IARS2, IMMT, IRS4, LARP4, MCM2, MYO6, NAA15, NUP93, MSH6, MSH2, MCM4, XRCC5, XRCC6, FXN, TSPYL6, BBS1 | PRSS57 |
| - 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 RNF126_PRSS57 |
| 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 RNF126_PRSS57 |
| 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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