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Kinase Fusion Gene:GPHN_PRKCH |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: GPHN_PRKCH | KinaseFusionDB ID: KFG2532 | FusionGDB2.0 ID: KFG2532 | Hgene | Tgene | Gene symbol | GPHN | PRKCH | Gene ID | 10243 | 5583 | |
| Gene name | gephyrin | protein kinase C eta | ||||||||||
| Synonyms | GEPH|GPH|GPHRYN|HKPX1|MOCODC | PKC-L|PKCL|PRKCL|nPKC-eta|uORF2 | ||||||||||
| Cytomap | 14q23.3-q24.1 | 14q23.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | gephyrin | protein kinase C eta typeProtein uPEP2 | ||||||||||
| Modification date | 20240403 | 20240403 | ||||||||||
| UniProtAcc | Q9NQX3 | P24723 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000305960, ENST00000315266, ENST00000459628, ENST00000478722, ENST00000543237, ENST00000544752, | ENST00000555082, ENST00000556245, ENST00000332981, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: GPHN [Title/Abstract] AND PRKCH [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | GPHN(66975309)-PRKCH(61857943), # 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 | GPHN | GO:0032324 | molybdopterin cofactor biosynthetic process | 26613940 |
| Hgene | GPHN | GO:0097112 | gamma-aminobutyric acid receptor clustering | 26613940 |
| Tgene | PRKCH | GO:0006468 | protein phosphorylation | 34593629 |
| Kinase Fusion gene breakpoints across GPHN (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 PRKCH (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-FW-A3I3-06A | GPHN | chr14 | 66975309 | PRKCH | chr14 | 61857943 |
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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/:66975309/:61857943) - 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 |
| GPHN | PRKCH |
| FUNCTION: Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules (By similarity). Acts as a major instructive molecule at inhibitory synapses, where it also clusters GABA type A receptors (PubMed:25025157, PubMed:26613940). {ECO:0000250|UniProtKB:Q03555, ECO:0000269|PubMed:25025157, ECO:0000269|PubMed:26613940}.; FUNCTION: Has also a catalytic activity and catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released. {ECO:0000269|PubMed:26613940}. | FUNCTION: Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1-CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization. {ECO:0000269|PubMed:10806212, ECO:0000269|PubMed:11112424, ECO:0000269|PubMed:11772428, ECO:0000269|PubMed:15489897, ECO:0000269|PubMed:17146445, ECO:0000269|PubMed:18780722, ECO:0000269|PubMed:19114660, ECO:0000269|PubMed:20558593, ECO:0000269|PubMed:21820409, ECO:0000269|PubMed:22304920}. |
| 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 GPHN_PRKCH |
| 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 |
| PRKCH | P24723 | human | ITGB2 | P05107 | S745 | FEkEKLksQWNNDNP | Integrin_b_cyt |
| PRKCH | P24723 | human | PTPN11 | Q06124 | S591 | GLMQQQksFR_____ | |
| PRKCH | P24723 | human | ITGB2 | P05107 | T758 | NPLFksAtttVMNPk | Integrin_b_cyt |
| PRKCH | P24723 | human | PTPN11 | Q06124 | S576 | CAEMREDsARVyENV | |
| PRKCH | P24723 | human | PRKCH | P24723 | S32 | tRWsLRHsLFKkGHQ | C2 |
| PRKCH | P24723 | human | PRKD2 | Q9BZL6 | S706 | ARIIGEksFRRsVVG | Pkinase |
| PRKCH | P24723 | human | PRKD2 | Q9BZL6 | S710 | GEksFRRsVVGtPAy | Pkinase |
| PRKCH | P24723 | human | GSK3A | P49840 | S21 | sGrARtssFAEPGGG | |
| PRKCH | P24723 | human | GSK3B | P49841 | S9 | SGRPRttsFAEsCkP | |
| PRKCH | P24723 | human | PRKCH | P24723 | S28 | GLQPtRWsLRHsLFK | C2 |
| PRKCH | P24723 | human | PRKD1 | Q15139 | S738 | ARIIGEksFRRsVVG | Pkinase |
| PRKCH | P24723 | human | PRKD2 | Q9BZL6 | S876 | QGLAERIsVL_____ | |
| PRKCH | P24723 | human | GSTP1 | P09211 | S185 | SAYVGRLsARPkLkA | GST_C_3 |
| PRKCH | P24723 | human | PRKD1 | Q15139 | S742 | GEksFRRsVVGtPAy | Pkinase |
| PRKCH | P24723 | human | GSTP1 | P09211 | S43 | VETWQEGsLkAsCLy | GST_N |
| 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 |
| PRKCH | ID | Description | 0.00e+00 |
| PRKCH | GO:0033157 | regulation of intracellular protein transport | 1.26e-05 |
| PRKCH | GO:0018105 | peptidyl-serine phosphorylation | 1.47e-05 |
| PRKCH | GO:0018107 | peptidyl-threonine phosphorylation | 1.47e-05 |
| PRKCH | GO:0018209 | peptidyl-serine modification | 1.47e-05 |
| PRKCH | GO:0018210 | peptidyl-threonine modification | 1.47e-05 |
| PRKCH | GO:0032386 | regulation of intracellular transport | 1.52e-05 |
| PRKCH | GO:0046825 | regulation of protein export from nucleus | 3.95e-05 |
| PRKCH | GO:0090316 | positive regulation of intracellular protein transport | 3.95e-05 |
| PRKCH | GO:1903829 | positive regulation of protein localization | 5.73e-05 |
| PRKCH | GO:0032388 | positive regulation of intracellular transport | 8.29e-05 |
| PRKCH | GO:0006611 | protein export from nucleus | 1.59e-04 |
| PRKCH | GO:0051222 | positive regulation of protein transport | 3.14e-04 |
| PRKCH | GO:0071375 | cellular response to peptide hormone stimulus | 3.14e-04 |
| PRKCH | GO:0071868 | cellular response to monoamine stimulus | 3.14e-04 |
| PRKCH | GO:0071870 | cellular response to catecholamine stimulus | 3.14e-04 |
| PRKCH | GO:1904951 | positive regulation of establishment of protein localization | 3.14e-04 |
| PRKCH | GO:0071867 | response to monoamine | 3.14e-04 |
| PRKCH | GO:0071869 | response to catecholamine | 3.14e-04 |
| PRKCH | GO:0070874 | negative regulation of glycogen metabolic process | 3.64e-04 |
| PRKCH | GO:1901653 | cellular response to peptide | 4.61e-04 |
| PRKCH | GO:0046822 | regulation of nucleocytoplasmic transport | 4.61e-04 |
| PRKCH | GO:1901030 | positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway | 4.61e-04 |
| PRKCH | GO:0007229 | integrin-mediated signaling pathway | 4.63e-04 |
| PRKCH | GO:0008286 | insulin receptor signaling pathway | 6.33e-04 |
| PRKCH | GO:2001028 | positive regulation of endothelial cell chemotaxis | 6.46e-04 |
| PRKCH | GO:0043434 | response to peptide hormone | 6.52e-04 |
| PRKCH | GO:0032930 | positive regulation of superoxide anion generation | 6.83e-04 |
| PRKCH | GO:0010508 | positive regulation of autophagy | 8.31e-04 |
| PRKCH | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 8.31e-04 |
| PRKCH | GO:0032928 | regulation of superoxide anion generation | 8.31e-04 |
| PRKCH | GO:0046827 | positive regulation of protein export from nucleus | 8.31e-04 |
| PRKCH | GO:0045785 | positive regulation of cell adhesion | 8.31e-04 |
| PRKCH | GO:0051168 | nuclear export | 1.12e-03 |
| PRKCH | GO:0003323 | type B pancreatic cell development | 1.21e-03 |
| PRKCH | GO:2001026 | regulation of endothelial cell chemotaxis | 1.21e-03 |
| PRKCH | GO:1901028 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway | 1.38e-03 |
| PRKCH | GO:0050857 | positive regulation of antigen receptor-mediated signaling pathway | 1.45e-03 |
| PRKCH | GO:0046777 | protein autophosphorylation | 1.60e-03 |
| PRKCH | GO:0003309 | type B pancreatic cell differentiation | 1.62e-03 |
| PRKCH | GO:0032869 | cellular response to insulin stimulus | 1.62e-03 |
| PRKCH | GO:0005979 | regulation of glycogen biosynthetic process | 1.62e-03 |
| PRKCH | GO:0010962 | regulation of glucan biosynthetic process | 1.62e-03 |
| PRKCH | GO:0035767 | endothelial cell chemotaxis | 1.62e-03 |
| PRKCH | GO:0090322 | regulation of superoxide metabolic process | 1.62e-03 |
| PRKCH | GO:0019082 | viral protein processing | 1.69e-03 |
| PRKCH | GO:0051348 | negative regulation of transferase activity | 1.91e-03 |
| PRKCH | GO:0097191 | extrinsic apoptotic signaling pathway | 1.97e-03 |
| PRKCH | GO:0002068 | glandular epithelial cell development | 2.01e-03 |
| PRKCH | GO:0035883 | enteroendocrine cell differentiation | 2.04e-03 |
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Related Drugs to GPHN_PRKCH |
| 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 GPHN-PRKCH 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 GPHN_PRKCH |
| 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 |
| Hgene | GPHN | C1854990 | Molybdenum Cofactor Deficiency, Complementation Group C | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
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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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