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Fusion gene ID: 31050 |
FusionGeneSummary for RFWD3_STK31 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RFWD3_STK31 | Fusion gene ID: 31050 | Hgene | Tgene | Gene symbol | RFWD3 | STK31 | Gene ID | 55159 | 56164 |
| Gene name | ring finger and WD repeat domain 3 | serine/threonine kinase 31 | |
| Synonyms | FANCW|RNF201 | SGK396|TDRD8 | |
| Cytomap | 16q23.1 | 7p15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RFWD3RING finger and WD repeat domain-containing protein 3RING finger protein 201RING-type E3 ubiquitin transferase RFWD3 | serine/threonine-protein kinase 31serine/threonine-protein kinase NYD-SPKsugen kinase 396testis tissue sperm-binding protein Li 78mtudor domain containing 8 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6PCD5 | Q9BXU1 | |
| Ensembl transtripts involved in fusion gene | ENST00000361070, ENST00000571750, | ENST00000355870, ENST00000433467, ENST00000354639, ENST00000428484, ENST00000405627, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RFWD3 [Title/Abstract] AND STK31 [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 | RFWD3 | GO:0000724 | double-strand break repair via homologous recombination | 26474068|28575657|28575658 |
| Hgene | RFWD3 | GO:0006974 | cellular response to DNA damage stimulus | 26474068|28575657|28575658 |
| Hgene | RFWD3 | GO:0010212 | response to ionizing radiation | 20173098 |
| Hgene | RFWD3 | GO:0016567 | protein ubiquitination | 20173098|26474068|28575657|28575658 |
| Hgene | RFWD3 | GO:0031297 | replication fork processing | 26474068 |
| 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 | LUAD | TCGA-44-5645-01A | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| * 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 | ENST00000361070 | ENST00000355870 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| Frame-shift | ENST00000361070 | ENST00000433467 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| Frame-shift | ENST00000361070 | ENST00000354639 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| Frame-shift | ENST00000361070 | ENST00000428484 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| 5CDS-intron | ENST00000361070 | ENST00000405627 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| Frame-shift | ENST00000571750 | ENST00000355870 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| Frame-shift | ENST00000571750 | ENST00000433467 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| Frame-shift | ENST00000571750 | ENST00000354639 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| Frame-shift | ENST00000571750 | ENST00000428484 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
| 5CDS-intron | ENST00000571750 | ENST00000405627 | RFWD3 | chr16 | 74694830 | - | STK31 | chr7 | 23757100 | + |
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FusionProtFeatures for RFWD3_STK31 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RFWD3 | STK31 |
| E3 ubiquitin-protein ligase required for the repair ofDNA interstrand cross-links (ICL) in response to DNA damage(PubMed:21504906, PubMed:21558276, PubMed:26474068,PubMed:28575657, PubMed:28575658). Plays a key role in RPA-mediated DNA damage signaling and repair (PubMed:21504906,PubMed:21558276, PubMed:26474068, PubMed:28575657,PubMed:28575658). Acts by mediating ubiquitination of the RPAcomplex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalledreplication forks, leading to remove them from DNA damage sitesand promote homologous recombination (PubMed:26474068,PubMed:28575657, PubMed:28575658). Also mediates theubiquitination of p53/TP53 in the late response to DNA damage, andacts as a positive regulator of p53/TP53 stability, therebyregulating the G1/S DNA damage checkpoint (PubMed:20173098). Mayact by catalyzing the formation of short polyubiquitin chains onp53/TP53 that are not targeted to the proteasome(PubMed:20173098). In response to ionizing radiation, interactswith MDM2 and enhances p53/TP53 ubiquitination, possibly byrestricting MDM2 from extending polyubiquitin chains onubiquitinated p53/TP53 (PubMed:20173098).{ECO:0000269|PubMed:20173098, ECO:0000269|PubMed:21504906,ECO:0000269|PubMed:21558276, ECO:0000269|PubMed:26474068,ECO:0000269|PubMed:28575657, ECO:0000269|PubMed:28575658}. |
| 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 RFWD3_STK31 |
| 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 RFWD3_STK31 |
| 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 |
| RFWD3 | UBE2D1, UBE2D2, UBE2D3, UBE2D4, UBE2E1, UBE2E3, UBE2N, UBE2W, RPA2, RPA1, RPA3, TP53, MDM2, ELAVL1, COA1, APP, HSP90AA1, LGR4, MOV10, NXF1, CEP170, DNAJB2, MBIP, FBXW7, XPO1, CANX, CCT6A, GLG1, HSPD1, MBNL1, PFDN1, PFDN2, TCP1, HSP90B1, CCT3, ATP6V0D1, HYOU1, CCT7, CCT4, CCT2, CCT8, CCT5, RNF41, LYAR, PIP4K2A, BBS7, CAMK1G, TPH1, RAD51 | STK31 | NEDD4, CLK1, FBXL17, SMURF1 |
| - 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 RFWD3_STK31 |
| 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 RFWD3_STK31 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RFWD3 | C1336708 | Testicular Germ Cell Tumor | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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