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Fusion gene ID: 32108 |
FusionGeneSummary for RPS3_C7orf31 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPS3_C7orf31 | Fusion gene ID: 32108 | Hgene | Tgene | Gene symbol | RPS3 | C7orf31 | Gene ID | 6188 | 136895 |
| Gene name | ribosomal protein S3 | chromosome 7 open reading frame 31 | |
| Synonyms | S3 | - | |
| Cytomap | 11q13.4 | 7p15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 40S ribosomal protein S3IMR-90 ribosomal protein S3small ribosomal subunit protein uS3 | uncharacterized protein C7orf31 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P23396 | Q8N865 | |
| Ensembl transtripts involved in fusion gene | ENST00000531188, ENST00000530164, ENST00000278572, ENST00000534440, ENST00000527446, ENST00000526608, ENST00000524851, ENST00000529285, | ENST00000409280, ENST00000283905, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: RPS3 [Title/Abstract] AND C7orf31 [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 | RPS3 | GO:0006979 | response to oxidative stress | 23911537 |
| Hgene | RPS3 | GO:0017148 | negative regulation of translation | 20217897 |
| Hgene | RPS3 | GO:0031397 | negative regulation of protein ubiquitination | 19656744 |
| Hgene | RPS3 | GO:0032079 | positive regulation of endodeoxyribonuclease activity | 18973764 |
| Hgene | RPS3 | GO:0042769 | DNA damage response, detection of DNA damage | 23911537 |
| Hgene | RPS3 | GO:0045739 | positive regulation of DNA repair | 23911537 |
| Hgene | RPS3 | GO:0061481 | response to TNF agonist | 20041225 |
| Hgene | RPS3 | GO:0070301 | cellular response to hydrogen peroxide | 23911537 |
| Hgene | RPS3 | GO:1901224 | positive regulation of NIK/NF-kappaB signaling | 20041225 |
| Hgene | RPS3 | GO:1902546 | positive regulation of DNA N-glycosylase activity | 15518571 |
| Hgene | RPS3 | GO:1905053 | positive regulation of base-excision repair | 18973764 |
| Hgene | RPS3 | GO:2001235 | positive regulation of apoptotic signaling pathway | 14988002 |
| 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 |
| ChiTaRS3.1 | BP262829 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| * 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 |
| 5CDS-5UTR | ENST00000531188 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000531188 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000530164 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000530164 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000278572 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000278572 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000534440 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000534440 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000527446 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000527446 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| intron-5UTR | ENST00000526608 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| intron-5UTR | ENST00000526608 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000524851 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 5CDS-5UTR | ENST00000524851 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 3UTR-5UTR | ENST00000529285 | ENST00000409280 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
| 3UTR-5UTR | ENST00000529285 | ENST00000283905 | RPS3 | chr11 | 75113427 | + | C7orf31 | chr7 | 25219874 | - |
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FusionProtFeatures for RPS3_C7orf31 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPS3 | C7orf31 |
| Involved in translation as a component of the 40S smallribosomal subunit (PubMed:8706699). Has endonuclease activity andplays a role in repair of damaged DNA (PubMed:7775413). Cleavesphosphodiester bonds of DNAs containing altered bases with broadspecificity and cleaves supercoiled DNA more efficiently thanrelaxed DNA (PubMed:15707971). Displays high binding affinity for7,8-dihydro-8-oxoguanine (8-oxoG), a common DNA lesion caused byreactive oxygen species (ROS) (PubMed:14706345). Has also beenshown to bind with similar affinity to intact and damaged DNA(PubMed:18610840). Stimulates the N-glycosylase activity of thebase excision protein OGG1 (PubMed:15518571). Enhances the uracilexcision activity of UNG1 (PubMed:18973764). Also stimulates thecleavage of the phosphodiester backbone by APEX1(PubMed:18973764). When located in the mitochondrion, reducescellular ROS levels and mitochondrial DNA damage(PubMed:23911537). Has also been shown to negatively regulate DNArepair in cells exposed to hydrogen peroxide (PubMed:17049931).Plays a role in regulating transcription as part of the NF-kappa-Bp65-p50 complex where it binds to the RELA/p65 subunit, enhancesbinding of the complex to DNA and promotes transcription of targetgenes (PubMed:18045535). Represses its own translation by bindingto its cognate mRNA (PubMed:20217897). Binds to and protectsTP53/p53 from MDM2-mediated ubiquitination (PubMed:19656744).Involved in spindle formation and chromosome movement duringmitosis by regulating microtubule polymerization(PubMed:23131551). Involved in induction of apoptosis through itsrole in activation of CASP8 (PubMed:14988002). Induces neuronalapoptosis by interacting with the E2F1 transcription factor andacting synergistically with it to up-regulate pro-apoptoticproteins BCL2L11/BIM and HRK/Dp5 (PubMed:20605787). Interacts withTRADD following exposure to UV radiation and induces apoptosis bycaspase-dependent JNK activation (PubMed:22510408).{ECO:0000269|PubMed:14706345, ECO:0000269|PubMed:14988002,ECO:0000269|PubMed:15518571, ECO:0000269|PubMed:15707971,ECO:0000269|PubMed:17049931, ECO:0000269|PubMed:18045535,ECO:0000269|PubMed:18610840, ECO:0000269|PubMed:18973764,ECO:0000269|PubMed:19656744, ECO:0000269|PubMed:20217897,ECO:0000269|PubMed:20605787, ECO:0000269|PubMed:22510408,ECO:0000269|PubMed:23131551, ECO:0000269|PubMed:23911537,ECO:0000269|PubMed:7775413, ECO:0000269|PubMed:8706699}. |
| 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 RPS3_C7orf31 |
| 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 RPS3_C7orf31 |
| 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 |
| - 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 RPS3_C7orf31 |
| 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 RPS3_C7orf31 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RPS3 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | RPS3 | C1257806 | Chromosomal Instability | 1 | CTD_human |
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