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Fusion gene ID: 32132 |
FusionGeneSummary for RPS6KA2_PYGB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPS6KA2_PYGB | Fusion gene ID: 32132 | Hgene | Tgene | Gene symbol | RPS6KA2 | PYGB | Gene ID | 6196 | 5834 |
| Gene name | ribosomal protein S6 kinase A2 | glycogen phosphorylase B | |
| Synonyms | HU-2|MAPKAPK1C|RSK|RSK3|S6K-alpha|S6K-alpha2|p90-RSK3|p90RSK2|pp90RSK3 | GPBB | |
| Cytomap | 6q27 | 20p11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ribosomal protein S6 kinase alpha-2MAP kinase-activated protein kinase 1cMAPK-activated protein kinase 1cMAPKAP kinase 1Cmitogen-activated protein kinase-activated protein kinase 1Cribosomal S6 kinase 3ribosomal protein S6 kinase, 90kDa, polypeptide | glycogen phosphorylase, brain formphosphorylase, glycogen; brain | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q15349 | P11216 | |
| Ensembl transtripts involved in fusion gene | ENST00000265678, ENST00000510118, ENST00000503859, ENST00000481261, ENST00000405189, ENST00000366863, ENST00000509742, | ENST00000216962, ENST00000471359, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 4 X 4 X 2=32 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RPS6KA2 [Title/Abstract] AND PYGB [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 | RPS6KA2 | GO:0008285 | negative regulation of cell proliferation | 16878154 |
| Hgene | RPS6KA2 | GO:0043065 | positive regulation of apoptotic process | 16878154 |
| Hgene | RPS6KA2 | GO:0045786 | negative regulation of cell cycle | 16878154 |
| 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 | Z18966 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| * 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 |
| intron-3UTR | ENST00000265678 | ENST00000216962 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-intron | ENST00000265678 | ENST00000471359 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-3UTR | ENST00000510118 | ENST00000216962 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-intron | ENST00000510118 | ENST00000471359 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-3UTR | ENST00000503859 | ENST00000216962 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-intron | ENST00000503859 | ENST00000471359 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-3UTR | ENST00000481261 | ENST00000216962 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-intron | ENST00000481261 | ENST00000471359 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-3UTR | ENST00000405189 | ENST00000216962 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-intron | ENST00000405189 | ENST00000471359 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-3UTR | ENST00000366863 | ENST00000216962 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-intron | ENST00000366863 | ENST00000471359 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-3UTR | ENST00000509742 | ENST00000216962 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
| intron-intron | ENST00000509742 | ENST00000471359 | RPS6KA2 | chr6 | 166945450 | + | PYGB | chr20 | 25277317 | + |
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FusionProtFeatures for RPS6KA2_PYGB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPS6KA2 | PYGB |
| Serine/threonine-protein kinase that acts downstream ofERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenicand stress-induced activation of transcription factors, regulatestranslation, and mediates cellular proliferation, survival, anddifferentiation. May function as tumor suppressor in epithelialovarian cancer cells. {ECO:0000269|PubMed:16878154,ECO:0000269|PubMed:7623830}. | Glycogen phosphorylase that regulates glycogenmobilization (PubMed:27402852). Phosphorylase is an importantallosteric enzyme in carbohydrate metabolism (PubMed:3346228).Enzymes from different sources differ in their regulatorymechanisms and in their natural substrates (PubMed:3346228).However, all known phosphorylases share catalytic and structuralproperties (PubMed:3346228). {ECO:0000269|PubMed:27402852,ECO:0000303|PubMed:3346228}. |
| 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 RPS6KA2_PYGB |
| 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 RPS6KA2_PYGB |
| 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 RPS6KA2_PYGB |
| 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 |
| Tgene | PYGB | P11216 | DB00114 | Pyridoxal Phosphate | Glycogen phosphorylase, brain form {ECO:0000303|PubMed:3346228} | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for RPS6KA2_PYGB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PYGB | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | PYGB | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Tgene | PYGB | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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