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Kinase Fusion Gene:GSK3A_CNFN |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: GSK3A_CNFN | KinaseFusionDB ID: KFG2582 | FusionGDB2.0 ID: KFG2582 | Hgene | Tgene | Gene symbol | GSK3A | CNFN | Gene ID | 2931 | 84518 | |
Gene name | glycogen synthase kinase 3 alpha | cornifelin | ||||||||||
Synonyms | - | PLAC8L2 | ||||||||||
Cytomap | 19q13.2 | 19q13.2 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | glycogen synthase kinase-3 alphaGSK-3 alphaserine/threonine-protein kinase GSK3A | cornifelincornefied envelope protein cornefilin | ||||||||||
Modification date | 20240411 | 20240305 | ||||||||||
UniProtAcc | P49840 | Q9BYD5 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000222330, ENST00000398249, | ENST00000222032, ENST00000597255, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: GSK3A [Title/Abstract] AND CNFN [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | GSK3A(42736209)-CNFN(42893191), # samples:3 |
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 | GSK3A | GO:0006468 | protein phosphorylation | 11035810 |
Hgene | GSK3A | GO:0018107 | peptidyl-threonine phosphorylation | 25897075 |
Kinase Fusion gene breakpoints across GSK3A (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 CNFN (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 |
ChimerDB4 | TCGA-2V-A95S-01A | GSK3A | chr19 | 42736209 | CNFN | chr19 | 42893191 |
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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/:42736209/:42893191) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GSK3A | CNFN |
FUNCTION: Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1 (PubMed:11749387, PubMed:17478001, PubMed:19366350). Requires primed phosphorylation of the majority of its substrates (PubMed:11749387, PubMed:17478001, PubMed:19366350). Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis (PubMed:11749387, PubMed:17478001, PubMed:19366350). Regulates glycogen metabolism in liver, but not in muscle (By similarity). May also mediate the development of insulin resistance by regulating activation of transcription factors (PubMed:10868943, PubMed:17478001). In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin (PubMed:17229088). Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease (PubMed:12761548). May be involved in the regulation of replication in pancreatic beta-cells (By similarity). Is necessary for the establishment of neuronal polarity and axon outgrowth (By similarity). Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation (By similarity). Acts as a regulator of autophagy by mediating phosphorylation of KAT5/TIP60 under starvation conditions which activates KAT5/TIP60 acetyltransferase activity and promotes acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer (PubMed:30704899). Negatively regulates extrinsic apoptotic signaling pathway via death domain receptors. Promotes the formation of an anti-apoptotic complex, made of DDX3X, BRIC2 and GSK3B, at death receptors, including TNFRSF10B. The anti-apoptotic function is most effective with weak apoptotic signals and can be overcome by stronger stimulation (By similarity). Phosphorylates mTORC2 complex component RICTOR at 'Thr-1695' which facilitates FBXW7-mediated ubiquitination and subsequent degradation of RICTOR (PubMed:25897075). {ECO:0000250|UniProtKB:P18265, ECO:0000250|UniProtKB:P49841, ECO:0000250|UniProtKB:Q2NL51, ECO:0000269|PubMed:10868943, ECO:0000269|PubMed:12761548, ECO:0000269|PubMed:17229088, ECO:0000269|PubMed:25897075, ECO:0000269|PubMed:30704899, ECO:0000303|PubMed:11749387, ECO:0000303|PubMed:17478001, ECO:0000303|PubMed:19366350}. | FUNCTION: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. {ECO:0000269|PubMed:15147942}. |
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 GSK3A_CNFN |
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 |
GSK3A | P49840 | human | PPARA | Q07869 | S280 | FHCCQCTsVETVTEL | Hormone_recep |
GSK3A | P49840 | human | MAPT | P10636-8 | T231 | KKVAVVRtPPKsPss | |
GSK3A | P49840 | human | GRB14 | Q14449 | S362 | QGRsGCSsQSIsPMR | |
GSK3A | P49840 | human | MAPT | P10636-8 | S199 | GDRsGyssPGsPGtP | |
GSK3A | P49840 | human | LRP6 | O75581 | S1544 | CDSDyAPsRRMtSVA | |
GSK3A | P49840 | human | IRF3 | Q14653 | T180 | sPsLDNPtPFPNLGP | |
GSK3A | P49840 | human | MAFA | Q8NHW3 | S61 | PLStPCSsVPSsPSF | |
GSK3A | P49840 | human | NBR1 | Q14596 | T586 | HNtPVDVtPCMsPLP | |
GSK3A | P49840 | human | FBXL20 | Q96IG2 | T417 | HAYFAPVtPPPsVGG | |
GSK3A | P49840 | human | GSK3A | P49840 | Y279 | RGEPNVsyICsRyyR | Pkinase |
GSK3A | P49840 | human | STAT2 | P52630 | S393 | LtPEKGQsQGLIWDF | STAT_bind |
GSK3A | P49840 | human | DES | P17661 | S32 | PLGsPLssPVFPrAG | Filament_head |
GSK3A | P49840 | human | CTNNB1 | P35222 | S37 | yLDsGIHsGATtTAP | |
GSK3A | P49840 | human | FBXL20 | Q96IG2 | S251 | RGCHKLQsLCAsGCS | |
GSK3A | P49840 | human | MAPT | P10636-8 | S396 | GAEIVyKsPVVsGDt | |
GSK3A | P49840 | human | FBXL20 | Q96IG2 | S255 | KLQsLCAsGCSNITD | |
GSK3A | P49840 | human | NDRG1 | Q92597 | S362 | HtsEGtRsRsHtsEG | |
GSK3A | P49840 | human | MAPT | P10636-8 | S404 | PVVsGDtsPRHLsNV | |
GSK3A | P49840 | human | MITF | O75030-9 | S298 | QARAHGLsLIPSTGL | DUF3371 |
GSK3A | P49840 | human | MAFA | Q8NHW3 | T57 | LSStPLStPCSsVPS | |
GSK3A | P49840 | human | MAPT | P10636-8 | S262 | NVKskIGstENLkHQ | Tubulin-binding |
GSK3A | P49840 | human | LRP6 | O75581 | S1490 | AILNPPPsPAtERsH | |
GSK3A | P49840 | human | MAFA | Q8NHW3 | S49 | CHRLPPGsLSStPLS | |
GSK3A | P49840 | human | RICTOR | Q6R327 | T1695 | EAEAVLAtPPKQPIV | |
GSK3A | P49840 | human | FBXL20 | Q96IG2 | S139 | DATCTSLskFCsKLR | |
GSK3A | P49840 | human | MYC | P01106 | T73 | kkFELLPtPPLsPsR | Myc_N |
GSK3A | P49840 | human | NIFK | Q9BYG3 | S230 | tPEKtVDsQGPtPVC | hNIFK_binding |
GSK3A | P49840 | human | STAT3 | P40763 | S727 | NtIDLPMsPrTLDSL | |
GSK3A | P49840 | human | DES | P17661 | S28 | APGFPLGsPLssPVF | Filament_head |
GSK3A | P49840 | human | CD274 | Q9NZQ7 | S279 | CGIQDTNsKkQsDtH | |
GSK3A | P49840 | human | FBXL20 | Q96IG2 | S425 | PPPsVGGsRQRFCRC | |
GSK3A | P49840 | human | BCL2L1 | Q07817 | S62 | PSWHLADsPAVNGAT | |
GSK3A | P49840 | human | OSBP2 | Q969R2 | S762 | ECSKVMHssPssPsS | Oxysterol_BP |
GSK3A | P49840 | human | UNG | P13051 | S64 | EPGtPPssPLsAEQL | |
GSK3A | P49840 | human | GPSM3 | Q9Y4H4 | S35 | STTRPWRsAPPsPPP | |
GSK3A | P49840 | human | STMN3 | Q9NZ72 | S60 | sFEVILksPSDLsPE | Stathmin |
GSK3A | P49840 | human | OSBP2 | Q969R2 | S766 | VMHssPssPsSDGKQ | Oxysterol_BP |
GSK3A | P49840 | human | UNG | P13051 | T60 | AGQEEPGtPPssPLs | |
GSK3A | P49840 | human | FBXL20 | Q96IG2 | S143 | TSLskFCsKLRHLDL | LRR_6 |
GSK3A | P49840 | human | STAT3 | P40763 | T714 | ktKFICVtPTtCsNt | |
GSK3A | P49840 | human | STAT2 | P52630 | T385 | ILTsNQktLtPEKGQ | STAT_bind |
GSK3A | P49840 | human | DPYSL2 | Q16555 | S518 | ktVtPAssAktsPAk | |
GSK3A | P49840 | human | IRF3 | Q14653 | S123 | DFSQPDTsPDTNGGG | |
GSK3A | P49840 | human | MAFA | Q8NHW3 | T53 | PPGsLSStPLStPCS | |
GSK3A | P49840 | human | PRKAA1 | Q13131 | T490 | EAksGtAtPQRsGsV | AdenylateSensor |
GSK3A | P49840 | human | CD274 | Q9NZQ7 | S283 | DTNsKkQsDtHLEEt | |
GSK3A | P49840 | human | STAT2 | P52630 | S381 | RkFNILTsNQktLtP | STAT_bind |
GSK3A | P49840 | human | GRB14 | Q14449 | S358 | MHPYQGRsGCSsQSI | |
GSK3A | P49840 | human | BCL3 | P20749 | S402 | LSASPSSsPSQsPPR | |
GSK3A | P49840 | human | GRB14 | Q14449 | S423 | THGsPtAsSQSSATN | |
GSK3A | P49840 | human | IL17RA | Q96F46 | T780 | MVLTDPHtPYEEEQR | |
GSK3A | P49840 | human | NCOA3 | Q9Y6Q9 | S509 | GVHsPMAsSGNTGNH | NCOA_u2 |
GSK3A | P49840 | human | IKZF3 | Q9UKT9 | S378 | VPSERGLsPNNSGHD | |
GSK3A | P49840 | human | NDRG1 | Q92597 | S342 | tsLDGtRsRsHtsEG | |
GSK3A | P49840 | human | BCL3 | P20749 | S406 | PSSsPSQsPPRDPPG | |
GSK3A | P49840 | human | GRB14 | Q14449 | S419 | LRLGTHGsPtAsSQS | |
GSK3A | P49840 | human | CCNE1 | P24864 | T395 | PLPSGLLtPPQsGKK | |
GSK3A | P49840 | human | OSBP2 | Q969R2 | S768 | HssPssPsSDGKQKT | Oxysterol_BP |
GSK3A | P49840 | human | LRP6 | O75581 | S1607 | HLYPPPPsPCTDss_ | |
GSK3A | P49840 | human | CTNNB1 | P35222 | S33 | QQQsyLDsGIHsGAT | |
GSK3A | P49840 | human | LRP6 | O75581 | T1572 | EPVPPPPtPRsQyLs | |
GSK3A | P49840 | human | OSBP2 | Q969R2 | S763 | CSKVMHssPssPsSD | Oxysterol_BP |
GSK3A | P49840 | human | CTNNB1 | P35222 | T41 | GIHsGATtTAPsLsG | |
GSK3A | P49840 | human | NDRG1 | Q92597 | S352 | HtsEGtRsRsHtsEG | |
GSK3A | P49840 | human | PKD2 | Q13563 | S76 | AGAAAsPsPPLsSCS | |
GSK3A | P49840 | human | ANKRD28 | O15084 | S1007 | INRyTNTskTVsFEA | |
GSK3A | P49840 | human | NIFK | Q9BYG3 | T234 | tVDsQGPtPVCtPtF | hNIFK_binding |
GSK3A | P49840 | human | FBXL20 | Q96IG2 | S421 | APVtPPPsVGGsRQR | |
GSK3A | P49840 | human | GRB14 | Q14449 | S366 | GCSsQSIsPMRsIsE | |
GSK3A | P49840 | human | MAPT | P10636-8 | S235 | VVRtPPKsPssAKsR | |
GSK3A | P49840 | human | IRF3 | Q14653 | S173 | PCPQPLRsPsLDNPt | |
GSK3A | P49840 | human | CDKN1A | P38936 | T57 | NFDFVtEtPLEGDFA | CDI |
GSK3A | P49840 | human | AKT1 | P31749 | T312 | tMKtFCGtPEyLAPE | Pkinase |
GSK3A | P49840 | human | NCOA3 | Q9Y6Q9 | S505 | SPVAGVHsPMAsSGN | NCOA_u2 |
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 |
GSK3A | ID | Description | 0.00e+00 |
GSK3A | GO:0097305 | response to alcohol | 6.04e-04 |
GSK3A | GO:0043434 | response to peptide hormone | 7.63e-04 |
GSK3A | GO:0010332 | response to gamma radiation | 1.24e-03 |
GSK3A | GO:0071887 | leukocyte apoptotic process | 1.24e-03 |
GSK3A | GO:0043467 | regulation of generation of precursor metabolites and energy | 1.42e-03 |
GSK3A | GO:0043470 | regulation of carbohydrate catabolic process | 1.42e-03 |
GSK3A | GO:0035821 | modulation of process of another organism | 1.42e-03 |
GSK3A | GO:0097284 | hepatocyte apoptotic process | 1.42e-03 |
GSK3A | GO:0009411 | response to UV | 1.42e-03 |
GSK3A | GO:0010821 | regulation of mitochondrion organization | 1.42e-03 |
GSK3A | GO:0051347 | positive regulation of transferase activity | 1.42e-03 |
GSK3A | GO:0002534 | cytokine production involved in inflammatory response | 1.74e-03 |
GSK3A | GO:1900015 | regulation of cytokine production involved in inflammatory response | 1.74e-03 |
GSK3A | GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | 1.74e-03 |
GSK3A | GO:0072331 | signal transduction by p53 class mediator | 1.74e-03 |
GSK3A | GO:0016055 | Wnt signaling pathway | 1.74e-03 |
GSK3A | GO:0072594 | establishment of protein localization to organelle | 1.74e-03 |
GSK3A | GO:0198738 | cell-cell signaling by wnt | 1.74e-03 |
GSK3A | GO:1904029 | regulation of cyclin-dependent protein kinase activity | 1.75e-03 |
GSK3A | GO:0050673 | epithelial cell proliferation | 1.93e-03 |
GSK3A | GO:0097193 | intrinsic apoptotic signaling pathway | 1.93e-03 |
GSK3A | GO:0006109 | regulation of carbohydrate metabolic process | 1.93e-03 |
GSK3A | GO:1900017 | positive regulation of cytokine production involved in inflammatory response | 2.03e-03 |
GSK3A | GO:0048638 | regulation of developmental growth | 2.03e-03 |
GSK3A | GO:0016049 | cell growth | 2.03e-03 |
GSK3A | GO:0070482 | response to oxygen levels | 2.41e-03 |
GSK3A | GO:0097306 | cellular response to alcohol | 2.63e-03 |
GSK3A | GO:0002532 | production of molecular mediator involved in inflammatory response | 2.79e-03 |
GSK3A | GO:0010038 | response to metal ion | 2.79e-03 |
GSK3A | GO:0050679 | positive regulation of epithelial cell proliferation | 2.88e-03 |
GSK3A | GO:0051348 | negative regulation of transferase activity | 3.24e-03 |
GSK3A | GO:0062014 | negative regulation of small molecule metabolic process | 3.42e-03 |
GSK3A | GO:0046627 | negative regulation of insulin receptor signaling pathway | 3.42e-03 |
GSK3A | GO:0032733 | positive regulation of interleukin-10 production | 3.47e-03 |
GSK3A | GO:1900077 | negative regulation of cellular response to insulin stimulus | 3.47e-03 |
GSK3A | GO:0032944 | regulation of mononuclear cell proliferation | 3.84e-03 |
GSK3A | GO:0002065 | columnar/cuboidal epithelial cell differentiation | 3.84e-03 |
GSK3A | GO:0072655 | establishment of protein localization to mitochondrion | 3.86e-03 |
GSK3A | GO:0008286 | insulin receptor signaling pathway | 3.88e-03 |
GSK3A | GO:0051090 | regulation of DNA-binding transcription factor activity | 4.01e-03 |
GSK3A | GO:0000082 | G1/S transition of mitotic cell cycle | 4.09e-03 |
GSK3A | GO:0010001 | glial cell differentiation | 4.09e-03 |
GSK3A | GO:0070585 | protein localization to mitochondrion | 4.22e-03 |
GSK3A | GO:0001558 | regulation of cell growth | 4.22e-03 |
GSK3A | GO:0050727 | regulation of inflammatory response | 4.25e-03 |
GSK3A | GO:0098781 | ncRNA transcription | 4.25e-03 |
GSK3A | GO:0009314 | response to radiation | 4.25e-03 |
GSK3A | GO:1903747 | regulation of establishment of protein localization to mitochondrion | 4.25e-03 |
GSK3A | GO:0010212 | response to ionizing radiation | 4.25e-03 |
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Related Drugs to GSK3A_CNFN |
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 GSK3A-CNFN 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 GSK3A_CNFN |
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 |