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Kinase Fusion Gene:RAB3GAP2_NEK7 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: RAB3GAP2_NEK7 | KinaseFusionDB ID: KFG5226 | FusionGDB2.0 ID: KFG5226 | Hgene | Tgene | Gene symbol | RAB3GAP2 | NEK7 | Gene ID | 25782 | 140609 | |
| Gene name | RAB3 GTPase activating non-catalytic protein subunit 2 | NIMA related kinase 7 | ||||||||||
| Synonyms | MARTS1|RAB3-GAP150|RAB3GAP150|SPG69|WARBM2|p150 | - | ||||||||||
| Cytomap | 1q41 | 1q31.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | rab3 GTPase-activating protein non-catalytic subunitRAB3 GTPase activating protein subunit 2 (non-catalytic)RGAP-isorab3 GTPase-activating protein 150 kDa subunitrab3-GAP p150rab3-GAP regulatory subunit | serine/threonine-protein kinase Nek7NIMA (never in mitosis gene a)-related kinase 7never in mitosis A-related kinase 7nimA-related protein kinase 7 | ||||||||||
| Modification date | 20240407 | 20240407 | ||||||||||
| UniProtAcc | Q9H2M9 | Q8TDX7 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000358951, ENST00000462353, | ENST00000417895, ENST00000367383, ENST00000367385, ENST00000538004, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: RAB3GAP2 [Title/Abstract] AND NEK7 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | NEK7(198126406)-RAB3GAP2(220387321), # samples:3 RAB3GAP2(220406141)-NEK7(198201683), # samples:2 | |||||||||||
| 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 |
| Tgene | NEK7 | GO:0006468 | protein phosphorylation | 12840024|31409757 |
| Tgene | NEK7 | GO:0007346 | regulation of mitotic cell cycle | 19941817 |
| Tgene | NEK7 | GO:1900227 | positive regulation of NLRP3 inflammasome complex assembly | 31189953|36442502 |
| Kinase Fusion gene breakpoints across RAB3GAP2 (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 NEK7 (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-94-8491-01A | RAB3GAP2 | chr1 | 220406141 | NEK7 | chr1 | 198201683 |
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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/:198126406/:220387321) - 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 |
| RAB3GAP2 | NEK7 |
| FUNCTION: Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and guanine nucleotide exchange factor (GEF) activity towards RAB18 (PubMed:9733780, PubMed:24891604). As part of the Rab3GAP complex, acts as a GAP for Rab3 proteins by converting active RAB3-GTP to the inactive form RAB3-GDP (By similarity). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones (By similarity). The Rab3GAP complex, acts as a GEF for RAB18 by promoting the conversion of inactive RAB18-GDP to the active form RAB18-GTP (PubMed:24891604). Required for recruiting and activating RAB18 at the endoplasmic reticulum (ER) membrane where it maintains proper ER structure (PubMed:24891604). Required for normal eye and brain development (By similarity). May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters (By similarity). {ECO:0000250|UniProtKB:Q15042, ECO:0000269|PubMed:24891604, ECO:0000269|PubMed:9733780}. | FUNCTION: Protein kinase which plays an important role in mitotic cell cycle progression (PubMed:17101132, PubMed:31409757, PubMed:19941817). Required for microtubule nucleation activity of the centrosome, robust mitotic spindle formation and cytokinesis (PubMed:17586473, PubMed:19414596, PubMed:31409757, PubMed:19941817, PubMed:26522158). Phosphorylates EML4 at 'Ser-146', promoting its dissociation from microtubules during mitosis which is required for efficient chromosome congression (PubMed:31409757). Phosphorylates RPS6KB1 (By similarity). Acts as an essential activator of the NLRP3 inflammasome assembly independently of its kinase activity (PubMed:26642356, PubMed:36442502). Acts by unlocking NLRP3 following NLRP3 tranlocation into the microtubule organizing center (MTOC), relieving NLRP3 autoinhibition and promoting formation of the NLRP3:PYCARD complex, and activation of CASP1 (PubMed:26642356, PubMed:31189953, PubMed:36442502). Serves as a cellular switch that enforces mutual exclusivity of the inflammasome response and cell division: interaction with NEK9 prevents interaction with NLRP3 and activation of the inflammasome during mitosis (PubMed:26642356, PubMed:31189953). {ECO:0000250|UniProtKB:D3ZBE5, ECO:0000269|PubMed:17101132, ECO:0000269|PubMed:17586473, ECO:0000269|PubMed:19414596, ECO:0000269|PubMed:19941817, ECO:0000269|PubMed:26522158, ECO:0000269|PubMed:26642356, ECO:0000269|PubMed:31189953, ECO:0000269|PubMed:31409757, ECO:0000269|PubMed:36442502}. |
| 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 RAB3GAP2_NEK7 |
| 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 |
| NEK7 | Q8TDX7 | human | KIF14 | Q15058 | S1220 | NLHSsHssGLMDkSS | |
| NEK7 | Q8TDX7 | human | KIF14 | Q15058 | S607 | NLIDLAGsERCSTAH | Kinesin |
| NEK7 | Q8TDX7 | human | KIF11 | P52732 | S1033 | GINtLERskVEETTE | Microtub_bind |
| NEK7 | Q8TDX7 | human | KIF14 | Q15058 | S1219 | KNLHSsHssGLMDkS | |
| NEK7 | Q8TDX7 | human | KIF14 | Q15058 | S56 | NDDPLLRsAGKVRDI | |
| NEK7 | Q8TDX7 | human | TERF1 | P54274 | S114 | AIIHGLSsLTACQLR | TRF |
| NEK7 | Q8TDX7 | human | KIF14 | Q15058 | S1217 | PIKNLHSsHssGLMD |
| 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 |
| NEK7 | ID | Description | 0.00e+00 |
| NEK7 | GO:0098813 | nuclear chromosome segregation | 6.72e-04 |
| NEK7 | GO:0007059 | chromosome segregation | 6.72e-04 |
| NEK7 | GO:0000280 | nuclear division | 6.72e-04 |
| NEK7 | GO:0048285 | organelle fission | 6.83e-04 |
| NEK7 | GO:0051303 | establishment of chromosome localization | 2.97e-03 |
| NEK7 | GO:0050000 | chromosome localization | 2.97e-03 |
| NEK7 | GO:0000070 | mitotic sister chromatid segregation | 6.40e-03 |
| NEK7 | GO:0000819 | sister chromatid segregation | 8.37e-03 |
| NEK7 | GO:0140014 | mitotic nuclear division | 1.10e-02 |
| NEK7 | GO:0043254 | regulation of protein-containing complex assembly | 1.40e-02 |
| NEK7 | GO:0007018 | microtubule-based movement | 1.40e-02 |
| NEK7 | GO:0045141 | meiotic telomere clustering | 1.40e-02 |
| NEK7 | GO:0070203 | regulation of establishment of protein localization to telomere | 1.40e-02 |
| NEK7 | GO:0090220 | chromosome localization to nuclear envelope involved in homologous chromosome segregation | 1.40e-02 |
| NEK7 | GO:0090657 | telomeric loop disassembly | 1.40e-02 |
| NEK7 | GO:0051656 | establishment of organelle localization | 1.40e-02 |
| NEK7 | GO:0034397 | telomere localization | 1.40e-02 |
| NEK7 | GO:0070202 | regulation of establishment of protein localization to chromosome | 1.40e-02 |
| NEK7 | GO:0021681 | cerebellar granular layer development | 1.40e-02 |
| NEK7 | GO:0007100 | mitotic centrosome separation | 1.40e-02 |
| NEK7 | GO:0032486 | Rap protein signal transduction | 1.40e-02 |
| NEK7 | GO:0051231 | spindle elongation | 1.40e-02 |
| NEK7 | GO:1904814 | regulation of protein localization to chromosom | 2.22e-03 |
| NEK7 | GO:0051299 | centrosome separation | 1.40e-02 |
| NEK7 | GO:0090656 | t-circle formation | 1.40e-02 |
| NEK7 | GO:0090737 | telomere maintenance via telomere trimming | 1.40e-02 |
| NEK7 | GO:0048532 | anatomical structure arrangement | 1.44e-02 |
| NEK7 | GO:0033623 | regulation of integrin activation | 1.48e-02 |
| NEK7 | GO:0070200 | establishment of protein localization to telomere | 1.52e-02 |
| NEK7 | GO:0021692 | cerebellar Purkinje cell layer morphogenesis | 1.55e-02 |
| NEK7 | GO:0032211 | negative regulation of telomere maintenance via telomerase | 1.58e-02 |
| NEK7 | GO:1903429 | regulation of cell maturation | 1.61e-02 |
| NEK7 | GO:0032069 | regulation of nuclease activity | 1.63e-02 |
| NEK7 | GO:0008156 | negative regulation of DNA replication | 1.77e-02 |
| NEK7 | GO:0033622 | integrin activation | 1.77e-02 |
| NEK7 | GO:0021846 | cell proliferation in forebrain | 1.77e-02 |
| NEK7 | GO:1904357 | negative regulation of telomere maintenance via telomere lengthening | 1.77e-02 |
| NEK7 | GO:0021680 | cerebellar Purkinje cell layer development | 1.77e-02 |
| NEK7 | GO:0070199 | establishment of protein localization to chromosome | 1.77e-02 |
| NEK7 | GO:0070198 | protein localization to chromosom | 4.92e-03 |
| NEK7 | GO:0032205 | negative regulation of telomere maintenance | 2.03e-02 |
| NEK7 | GO:0021696 | cerebellar cortex morphogenesis | 2.03e-02 |
| NEK7 | GO:0021988 | olfactory lobe development | 2.03e-02 |
| NEK7 | GO:2000279 | negative regulation of DNA biosynthetic process | 2.03e-02 |
| NEK7 | GO:0016233 | telomere capping | 2.09e-02 |
| NEK7 | GO:0033260 | nuclear DNA replication | 2.10e-02 |
| NEK7 | GO:0021587 | cerebellum morphogenesis | 2.15e-02 |
| NEK7 | GO:0044786 | cell cycle DNA replication | 2.15e-02 |
| NEK7 | GO:0031641 | regulation of myelination | 2.15e-02 |
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Related Drugs to RAB3GAP2_NEK7 |
| 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 RAB3GAP2-NEK7 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 RAB3GAP2_NEK7 |
| 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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