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Fusion gene ID: 31050 |
FusionGeneSummary for RFWD3_STK31 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RFWD3_STK31 |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RFWD3 | C1336708 | Testicular Germ Cell Tumor | 1 | CTD_human |