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Fusion gene ID: 32151 |
FusionGeneSummary for RPS6KB1_EFCAB3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPS6KB1_EFCAB3 | Fusion gene ID: 32151 | Hgene | Tgene | Gene symbol | RPS6KB1 | EFCAB3 | Gene ID | 6198 | 146779 |
| Gene name | ribosomal protein S6 kinase B1 | EF-hand calcium binding domain 3 | |
| Synonyms | PS6K|S6K|S6K-beta-1|S6K1|STK14A|p70 S6KA|p70(S6K)-alpha|p70-S6K|p70-alpha | - | |
| Cytomap | 17q23.1 | 17q23.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ribosomal protein S6 kinase beta-1p70 S6 kinase, alpharibosomal protein S6 kinase Iribosomal protein S6 kinase, 70kDa, polypeptide 1serine/threonine kinase 14 alphaserine/threonine-protein kinase 14A | EF-hand calcium-binding domain-containing protein 3 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P23443 | Q8N7B9 | |
| Ensembl transtripts involved in fusion gene | ENST00000443572, ENST00000406116, ENST00000225577, ENST00000393021, ENST00000587061, | ENST00000450662, ENST00000305286, | |
| Fusion gene scores | * DoF score | 8 X 5 X 4=160 | 7 X 7 X 2=98 |
| # samples | 8 | 8 | |
| ** MAII score | log2(8/160*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/98*10)=-0.292781749227846 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RPS6KB1 [Title/Abstract] AND EFCAB3 [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 | RPS6KB1 | GO:0031929 | TOR signaling | 12150926 |
| Hgene | RPS6KB1 | GO:0071363 | cellular response to growth factor stimulus | 17936702 |
| 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 | BRCA | TCGA-AN-A0FD-01A | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| * 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 | ENST00000443572 | ENST00000450662 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| 5CDS-5UTR | ENST00000443572 | ENST00000305286 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| Frame-shift | ENST00000406116 | ENST00000450662 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| 5CDS-5UTR | ENST00000406116 | ENST00000305286 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| Frame-shift | ENST00000225577 | ENST00000450662 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| 5CDS-5UTR | ENST00000225577 | ENST00000305286 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| 5UTR-3CDS | ENST00000393021 | ENST00000450662 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| 5UTR-5UTR | ENST00000393021 | ENST00000305286 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| intron-3CDS | ENST00000587061 | ENST00000450662 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
| intron-5UTR | ENST00000587061 | ENST00000305286 | RPS6KB1 | chr17 | 57970686 | + | EFCAB3 | chr17 | 60460324 | + |
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FusionProtFeatures for RPS6KB1_EFCAB3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPS6KB1 | EFCAB3 |
| Serine/threonine-protein kinase that acts downstream ofmTOR signaling in response to growth factors and nutrients topromote cell proliferation, cell growth and cell cycleprogression. Regulates protein synthesis through phosphorylationof EIF4B, RPS6 and EEF2K, and contributes to cell survival byrepressing the pro-apoptotic function of BAD. Under conditions ofnutrient depletion, the inactive form associates with the EIF3translation initiation complex. Upon mitogenic stimulation,phosphorylation by the mammalian target of rapamycin complex 1(mTORC1) leads to dissociation from the EIF3 complex andactivation. The active form then phosphorylates and activatesseveral substrates in the pre-initiation complex, including theEIF2B complex and the cap-binding complex component EIF4B. Alsocontrols translation initiation by phosphorylating a negativeregulator of EIF4A, PDCD4, targeting it for ubiquitination andsubsequent proteolysis. Promotes initiation of the pioneer roundof protein synthesis by phosphorylating POLDIP3/SKAR. In responseto IGF1, activates translation elongation by phosphorylating EEF2kinase (EEF2K), which leads to its inhibition and thus activationof EEF2. Also plays a role in feedback regulation of mTORC2 bymTORC1 by phosphorylating RICTOR, resulting in the inhibition ofmTORC2 and AKT1 signaling. Mediates cell survival byphosphorylating the pro-apoptotic protein BAD and suppressing itspro-apoptotic function. Phosphorylates mitochondrial URI1 leadingto dissociation of a URI1-PPP1CC complex. The free mitochondrialPPP1CC can then dephosphorylate RPS6KB1 at Thr-412, which isproposed to be a negative feedback mechanism for the RPS6KB1 anti-apoptotic function. Mediates TNF-alpha-induced insulin resistanceby phosphorylating IRS1 at multiple serine residues, resulting inaccelerated degradation of IRS1. In cells lacking functional TSC1-2 complex, constitutively phosphorylates and inhibits GSK3B. Maybe involved in cytoskeletal rearrangement through binding toneurabin. Phosphorylates and activates the pyrimidine biosynthesisenzyme CAD, downstream of MTOR (PubMed:11500364, PubMed:12801526,PubMed:14673156, PubMed:15071500, PubMed:15341740,PubMed:16286006, PubMed:17052453, PubMed:17053147,PubMed:17936702, PubMed:18952604, PubMed:19085255,PubMed:19720745, PubMed:19935711, PubMed:19995915,PubMed:23429703). Following activation by mTORC1, phosphorylatesEPRS and thereby plays a key role in fatty acid uptake byadipocytes and also most probably in interferon-gamma-inducedtranslation inhibition (PubMed:28178239).{ECO:0000269|PubMed:11500364, ECO:0000269|PubMed:12801526,ECO:0000269|PubMed:14673156, ECO:0000269|PubMed:15071500,ECO:0000269|PubMed:15341740, ECO:0000269|PubMed:16286006,ECO:0000269|PubMed:17052453, ECO:0000269|PubMed:17053147,ECO:0000269|PubMed:17936702, ECO:0000269|PubMed:18952604,ECO:0000269|PubMed:19085255, ECO:0000269|PubMed:19720745,ECO:0000269|PubMed:19935711, ECO:0000269|PubMed:19995915,ECO:0000269|PubMed:23429703, ECO:0000269|PubMed:28178239}. |
| 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 RPS6KB1_EFCAB3 |
| 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 RPS6KB1_EFCAB3 |
| 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 |
| RPS6KB1 | TRAF4, AKT1, CSNK2B, MTOR, GDI2P1, PPP2R2A, ACTA1, BTK, CSNK2A1, LYN, PDK1, PRKCZ, SRC, SYK, EIF3B, EIF3C, RPTOR, COASY, POLDIP3, RICTOR, TERT, XPO1, EIF3F, EEF2K, RBX1, MDM2, EP300, KAT2B, NEDD4, DPPA4, CLEC3B, MXD1, ELAVL1, NFATC1, EIF3H, SQSTM1, MAPKAP1, RPS6, PLD2, IRS1, APP, MAPT, HSP90AA1, URI1, STAT1, KIR3DL1, MAPK8, TRIB2, HTT, NCBP1, EIF4E, RHEB, NR1I2, RPS6KB1, PPP5C, STK11, DEPTOR, PIP4K2A, KIT, RRM2, VHL, ABL1, UBL4A, TRIM25 | EFCAB3 | EGFR |
| - 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 RPS6KB1_EFCAB3 |
| 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 RPS6KB1_EFCAB3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RPS6KB1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | RPS6KB1 | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Hgene | RPS6KB1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | RPS6KB1 | C0333641 | Atrophic | 1 | CTD_human |
| Hgene | RPS6KB1 | C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 1 | CTD_human |
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