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Kinase Fusion Gene:RPS6KA5_TMEM231 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: RPS6KA5_TMEM231 | KinaseFusionDB ID: KFG5582 | FusionGDB2.0 ID: KFG5582 | Hgene | Tgene | Gene symbol | RPS6KA5 | TMEM231 | Gene ID | 9252 | 79583 | |
| Gene name | ribosomal protein S6 kinase A5 | transmembrane protein 231 | ||||||||||
| Synonyms | MSK1|MSPK1|RLPK | ALYE870|JBTS20|MKS11|PRO1886 | ||||||||||
| Cytomap | 14q32.11 | 16q23.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | ribosomal protein S6 kinase alpha-590 kDa ribosomal protein S6 kinase 5RSK-like protein kinaseRSKLS6K-alpha-5nuclear mitogen- and stress-activated protein kinase 1ribosomal protein S6 kinase, 90kDa, polypeptide 5 | transmembrane protein 231 | ||||||||||
| Modification date | 20240310 | 20240305 | ||||||||||
| UniProtAcc | O75582 | Q9H6L2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000261991, ENST00000418736, ENST00000536315, ENST00000556304, | ENST00000258173, ENST00000568377, ENST00000565067, ENST00000569294, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: RPS6KA5 [Title/Abstract] AND TMEM231 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RPS6KA5(91352590)-TMEM231(75572203), # samples:1 | |||||||||||
| 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 | RPS6KA5 | GO:0006355 | regulation of DNA-templated transcription | 9687510 |
| Hgene | RPS6KA5 | GO:0006468 | protein phosphorylation | 9687510 |
| Hgene | RPS6KA5 | GO:0035556 | intracellular signal transduction | 9687510 |
| Hgene | RPS6KA5 | GO:0043687 | post-translational protein modification | 15010469 |
| Hgene | RPS6KA5 | GO:0045892 | negative regulation of DNA-templated transcription | 15010469 |
| Kinase Fusion gene breakpoints across RPS6KA5 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across TMEM231 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChiTaRS5.0 | N22225 | RPS6KA5 | chr14 | 91352590 | TMEM231 | chr16 | 75572203 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:91352590/:75572203) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPS6KA5 | TMEM231 |
| FUNCTION: Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factors RELA, STAT3 and ETV1/ER81, and that contributes to gene activation by histone phosphorylation and functions in the regulation of inflammatory genes (PubMed:11909979, PubMed:12569367, PubMed:12763138, PubMed:9687510, PubMed:18511904, PubMed:9873047). Phosphorylates CREB1 and ATF1 in response to mitogenic or stress stimuli such as UV-C irradiation, epidermal growth factor (EGF) and anisomycin (PubMed:11909979, PubMed:9873047). Plays an essential role in the control of RELA transcriptional activity in response to TNF and upon glucocorticoid, associates in the cytoplasm with the glucocorticoid receptor NR3C1 and contributes to RELA inhibition and repression of inflammatory gene expression (PubMed:12628924, PubMed:18511904). In skeletal myoblasts is required for phosphorylation of RELA at 'Ser-276' during oxidative stress (PubMed:12628924). In erythropoietin-stimulated cells, is necessary for the 'Ser-727' phosphorylation of STAT3 and regulation of its transcriptional potential (PubMed:12763138). Phosphorylates ETV1/ER81 at 'Ser-191' and 'Ser-216', and thereby regulates its ability to stimulate transcription, which may be important during development and breast tumor formation (PubMed:12569367). Directly represses transcription via phosphorylation of 'Ser-1' of histone H2A (PubMed:15010469). Phosphorylates 'Ser-10' of histone H3 in response to mitogenics, stress stimuli and EGF, which results in the transcriptional activation of several immediate early genes, including proto-oncogenes c-fos/FOS and c-jun/JUN (PubMed:12773393). May also phosphorylate 'Ser-28' of histone H3 (PubMed:12773393). Mediates the mitogen- and stress-induced phosphorylation of high mobility group protein 1 (HMGN1/HMG14) (PubMed:12773393). In lipopolysaccharide-stimulated primary macrophages, acts downstream of the Toll-like receptor TLR4 to limit the production of pro-inflammatory cytokines (By similarity). Functions probably by inducing transcription of the MAP kinase phosphatase DUSP1 and the anti-inflammatory cytokine interleukin 10 (IL10), via CREB1 and ATF1 transcription factors (By similarity). Plays a role in neuronal cell death by mediating the downstream effects of excitotoxic injury (By similarity). Phosphorylates TRIM7 at 'Ser-107' in response to growth factor signaling via the MEK/ERK pathway, thereby stimulating its ubiquitin ligase activity (PubMed:25851810). {ECO:0000250|UniProtKB:Q8C050, ECO:0000269|PubMed:11909979, ECO:0000269|PubMed:12569367, ECO:0000269|PubMed:12628924, ECO:0000269|PubMed:12763138, ECO:0000269|PubMed:12773393, ECO:0000269|PubMed:15010469, ECO:0000269|PubMed:18511904, ECO:0000269|PubMed:25851810, ECO:0000269|PubMed:9687510, ECO:0000269|PubMed:9873047}. | FUNCTION: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity). {ECO:0000250}. |
| 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. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of RPS6KA5_TMEM231 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| RPS6KA5 | O75582 | human | RPS6KA5 | O75582 | S376 | EKLFQGysFVAPsIL | Pkinase_C |
| RPS6KA5 | O75582 | human | RPS6KA5 | O75582 | S381 | GysFVAPsILFkRNA | |
| RPS6KA5 | O75582 | human | LRRC8A | Q8IWT6 | S217 | PMLQRtKsRIEQGIV | Pannexin_like |
| RPS6KA5 | O75582 | human | RPS6KA5 | O75582 | S212 | DETERAYsFCGTIEY | Pkinase |
| RPS6KA5 | O75582 | human | RARA | P10276 | S369 | YVRKRRPsRPHMFPK | Hormone_recep |
| RPS6KA5 | O75582 | human | H3C1 | P68431 | S10 | tkQtArkstGGkAPr | Histone |
| RPS6KA5 | O75582 | human | SRF | P11831 | S103 | RGLKRsLsEMEIGMV | |
| RPS6KA5 | O75582 | human | H2AC17 | P0C0S8 | S1 | _______sGrGkQGG | Histone |
| RPS6KA5 | O75582 | human | H3C1 | P68431 | S28 | ATkAArksAPATGGV | Histone |
| RPS6KA5 | O75582 | human | RPS6KA5 | O75582 | S752 | KMKKTstsTETRsss | |
| RPS6KA5 | O75582 | human | CBX3 | Q13185 | S93 | kDGtKRksLsDsEsD | |
| RPS6KA5 | O75582 | human | CREB1 | P16220 | S119 | EILsRRPsyRkILND | pKID |
| RPS6KA5 | O75582 | human | KDM3A | Q9Y4C1 | S264 | IGAVKRKssENNGTL | |
| RPS6KA5 | O75582 | human | RPS6KA5 | O75582 | S750 | RRKMKKTstsTETRs | |
| RPS6KA5 | O75582 | human | ATXN1 | P54253 | S775 | AtRKRRWsAPESRKL | |
| RPS6KA5 | O75582 | human | ATF1 | P18846 | S63 | GILARRPsyRKILkD | pKID |
| RPS6KA5 | O75582 | human | RELA | Q04206 | S276 | sMQLRRPsDRELsEP | RHD_dimer |
| RPS6KA5 | O75582 | human | WNK1 | Q9H4A3 | T60 | EYRRRRHtMDKDSrG | |
| RPS6KA5 | O75582 | human | ELK1 | P19419 | S383 | IHFWSTLsPIAPRsP | |
| RPS6KA5 | O75582 | human | TH | P07101-3 | S40 | RFIGRRQsLIEDARK | TOH_N |
| RPS6KA5 | O75582 | human | RPS6KA5 | O75582 | S758 | tsTETRssssESSHS |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| RPS6KA5 | ID | Description | 0.00e+00 |
| RPS6KA5 | GO:1902894 | negative regulation of miRNA transcription | 5.09e-04 |
| RPS6KA5 | GO:2000629 | negative regulation of miRNA metabolic process | 5.09e-04 |
| RPS6KA5 | GO:0007613 | memory | 7.21e-04 |
| RPS6KA5 | GO:0008361 | regulation of cell size | 2.44e-03 |
| RPS6KA5 | GO:0048732 | gland development | 2.44e-03 |
| RPS6KA5 | GO:1901654 | response to ketone | 2.44e-03 |
| RPS6KA5 | GO:0060541 | respiratory system development | 2.44e-03 |
| RPS6KA5 | GO:1902893 | regulation of miRNA transcription | 2.44e-03 |
| RPS6KA5 | GO:0061614 | miRNA transcription | 2.44e-03 |
| RPS6KA5 | GO:0006970 | response to osmotic stress | 3.26e-03 |
| RPS6KA5 | GO:2000628 | regulation of miRNA metabolic process | 3.54e-03 |
| RPS6KA5 | GO:0140747 | regulation of ncRNA transcription | 3.92e-03 |
| RPS6KA5 | GO:0007611 | learning or memory | 3.92e-03 |
| RPS6KA5 | GO:0035729 | cellular response to hepatocyte growth factor stimulus | 4.72e-03 |
| RPS6KA5 | GO:0010586 | miRNA metabolic process | 4.72e-03 |
| RPS6KA5 | GO:0035728 | response to hepatocyte growth factor | 5.29e-03 |
| RPS6KA5 | GO:0050890 | cognition | 5.29e-03 |
| RPS6KA5 | GO:0060438 | trachea development | 5.42e-03 |
| RPS6KA5 | GO:0098781 | ncRNA transcription | 8.01e-03 |
| RPS6KA5 | GO:0032535 | regulation of cellular component size | 8.01e-03 |
| RPS6KA5 | GO:0001889 | liver development | 8.01e-03 |
| RPS6KA5 | GO:0014074 | response to purine-containing compound | 8.01e-03 |
| RPS6KA5 | GO:0061008 | hepaticobiliary system development | 8.01e-03 |
| RPS6KA5 | GO:0007612 | learning | 8.48e-03 |
| RPS6KA5 | GO:0007584 | response to nutrient | 8.70e-03 |
| RPS6KA5 | GO:0001678 | intracellular glucose homeostasis | 8.70e-03 |
| RPS6KA5 | GO:0030900 | forebrain development | 8.70e-03 |
| RPS6KA5 | GO:0070498 | interleukin-1-mediated signaling pathway | 1.00e-02 |
| RPS6KA5 | GO:0010720 | positive regulation of cell development | 1.12e-02 |
| RPS6KA5 | GO:0006884 | cell volume homeostasis | 1.12e-02 |
| RPS6KA5 | GO:0031076 | embryonic camera-type eye development | 1.22e-02 |
| RPS6KA5 | GO:0030324 | lung development | 1.24e-02 |
| RPS6KA5 | GO:0021543 | pallium development | 1.24e-02 |
| RPS6KA5 | GO:0030323 | respiratory tube development | 1.24e-02 |
| RPS6KA5 | GO:0031667 | response to nutrient levels | 1.41e-02 |
| RPS6KA5 | GO:0042789 | mRNA transcription by RNA polymerase II | 1.62e-02 |
| RPS6KA5 | GO:0009299 | mRNA transcription | 1.77e-02 |
| RPS6KA5 | GO:0010043 | response to zinc ion | 1.77e-02 |
| RPS6KA5 | GO:0035094 | response to nicotine | 1.77e-02 |
| RPS6KA5 | GO:0035176 | social behavior | 1.77e-02 |
| RPS6KA5 | GO:0060324 | face development | 1.77e-02 |
| RPS6KA5 | GO:1902895 | positive regulation of miRNA transcription | 1.77e-02 |
| RPS6KA5 | GO:0019933 | cAMP-mediated signaling | 1.80e-02 |
| RPS6KA5 | GO:0051703 | biological process involved in intraspecies interaction between organisms | 1.83e-02 |
| RPS6KA5 | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 1.88e-02 |
| RPS6KA5 | GO:0048738 | cardiac muscle tissue development | 1.90e-02 |
| RPS6KA5 | GO:0042593 | glucose homeostasis | 1.93e-02 |
| RPS6KA5 | GO:0033500 | carbohydrate homeostasis | 1.93e-02 |
| RPS6KA5 | GO:0097305 | response to alcohol | 1.94e-02 |
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Related Drugs to RPS6KA5_TMEM231 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning RPS6KA5-TMEM231 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to RPS6KA5_TMEM231 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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