UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
Kinase Fusion Gene:NPTXR_CHEK2 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: NPTXR_CHEK2 | KinaseFusionDB ID: KFG4247 | FusionGDB2.0 ID: KFG4247 | Hgene | Tgene | Gene symbol | NPTXR | CHEK2 | Gene ID | 23467 | 11200 | |
Gene name | neuronal pentraxin receptor | checkpoint kinase 2 | ||||||||||
Synonyms | NPR | CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|TPDS4|hCds1 | ||||||||||
Cytomap | 22q13.1 | 22q12.1 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | neuronal pentraxin receptor | serine/threonine-protein kinase Chk2CHK2 checkpoint homologcds1 homologcheckpoint-like protein CHK2 | ||||||||||
Modification date | 20240305 | 20240416 | ||||||||||
UniProtAcc | O95502 | O96017 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000333039, | ENST00000328354, ENST00000348295, ENST00000382565, ENST00000382566, ENST00000382578, ENST00000382580, ENST00000402731, ENST00000403642, ENST00000404276, ENST00000405598, ENST00000544772, ENST00000464581, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: NPTXR [Title/Abstract] AND CHEK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | NPTXR(39239240)-CHEK2(29130715), # 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 |
Tgene | CHEK2 | GO:0006355 | regulation of DNA-templated transcription | 12717439 |
Tgene | CHEK2 | GO:0006468 | protein phosphorylation | 12717439|18833288 |
Tgene | CHEK2 | GO:0006974 | DNA damage response | 24550317 |
Tgene | CHEK2 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 12402044 |
Tgene | CHEK2 | GO:0042770 | signal transduction in response to DNA damage | 14744935 |
Tgene | CHEK2 | GO:0045893 | positive regulation of DNA-templated transcription | 17101782 |
Tgene | CHEK2 | GO:0046777 | protein autophosphorylation | 16794575|18644861 |
Tgene | CHEK2 | GO:0050821 | protein stabilization | 12717439|18833288 |
Kinase Fusion gene breakpoints across NPTXR (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 CHEK2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
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-XT-AASU-01A | NPTXR | chr22 | 39239240 | CHEK2 | chr22 | 29130715 |
Top |
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) |
Top |
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 |
Top |
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/:39239240/:29130715) - 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 |
NPTXR | CHEK2 |
FUNCTION: May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses. {ECO:0000250}. | FUNCTION: Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells. Promotes the CCAR2-SIRT1 association and is required for CCAR2-mediated SIRT1 inhibition (PubMed:25361978). {ECO:0000250|UniProtKB:Q9Z265, ECO:0000269|PubMed:10097108, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11298456, ECO:0000269|PubMed:12402044, ECO:0000269|PubMed:12607004, ECO:0000269|PubMed:12717439, ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:16163388, ECO:0000269|PubMed:17101782, ECO:0000269|PubMed:17380128, ECO:0000269|PubMed:17715138, ECO:0000269|PubMed:18317453, ECO:0000269|PubMed:18644861, ECO:0000269|PubMed:18728393, ECO:0000269|PubMed:20364141, ECO:0000269|PubMed:25361978, ECO:0000269|PubMed:25619829, ECO:0000269|PubMed:9836640, ECO:0000269|PubMed:9889122}.; FUNCTION: (Microbial infection) Phosphorylates herpes simplex virus 1/HHV-1 protein ICP0 and thus activates its SUMO-targeted ubiquitin ligase activity. {ECO:0000269|PubMed:32001251}. |
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 |
Top |
Kinase-Substrate Information of NPTXR_CHEK2 |
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 |
CHEK2 | O96017 | human | SIAH2 | O43255 | S68 | GGGAGPVsPQHHELT | |
CHEK2 | O96017 | human | TP53 | P04637 | S37 | NVLsPLPsQAMDDLM | TAD2 |
CHEK2 | O96017 | human | CHEK2 | O96017 | S33 | tQsQGSSsQsQGIss | |
CHEK2 | O96017 | human | CHEK2 | O96017 | S435 | SEHRtQVsLkDQITS | Pkinase |
CHEK2 | O96017 | human | TTK | P33981 | T288 | sPDCDVktDDsVVPC | |
CHEK2 | O96017 | human | AATF | Q9NY61 | S510 | KKVDRKAsKGRKLRF | TRAUB |
CHEK2 | O96017 | human | SIAH2 | O43255 | T119 | PTCRGALtPSIRNLA | |
CHEK2 | O96017 | human | AURKB | Q96GD4 | S331 | HPWVRANsRRVLPPS | |
CHEK2 | O96017 | human | BAIAP2L1 | Q9UHR4 | S331 | PSLQRsVsVAtGLNM | |
CHEK2 | O96017 | human | LATS2 | Q9NRM7 | S446 | HILHPVKsVRVLRPE | |
CHEK2 | O96017 | human | TP53 | P04637 | T18 | EPPLsQEtFsDLWkL | P53_TAD |
CHEK2 | O96017 | human | ELAVL1 | Q15717 | T118 | sGLPRTMtQkDVEDM | RRM_1 |
CHEK2 | O96017 | human | PML | P29590-3 | S117 | ESLQRRLsVYRQIVD | |
CHEK2 | O96017 | human | LATS2 | Q9NRM7 | S408 | PVPSRTNsFNSHQPR | |
CHEK2 | O96017 | human | BECN1 | Q14457 | S93 | ARMMstEsANsFTLI | |
CHEK2 | O96017 | human | AATF | Q9NY61 | S143 | SKKSRSHsAktPGFs | |
CHEK2 | O96017 | human | E2F1 | Q01094 | S364 | PLLSRMGsLRAPVDE | |
CHEK2 | O96017 | human | MAPT | P10636-8 | S262 | NVKskIGstENLkHQ | Tubulin-binding |
CHEK2 | O96017 | human | H1-2 | P16403 | T92 | ksLVskGtLVQTkGt | Linker_histone |
CHEK2 | O96017 | human | BRCA1 | P38398 | S988 | PPLFPIksFVKTKCK | |
CHEK2 | O96017 | human | VHL | P40337 | S111 | GtGRRIHsyRGHLWL | VHL |
CHEK2 | O96017 | human | H1-2 | P16403 | S55 | VAAskErsGVsLAAL | Linker_histone |
CHEK2 | O96017 | human | LATS2 | Q9NRM7 | S380 | ATLARRDsLQKPGLE | |
CHEK2 | O96017 | human | XRCC1 | P18887 | S210 | AsDPAGPsyAAATLQ | |
CHEK2 | O96017 | human | CHEK2 | O96017 | S19 | sHGsSACsQPHGsVt | |
CHEK2 | O96017 | human | PLIN3 | O60664 | Y251 | ErLRQHAyEHSLGkL | Perilipin |
CHEK2 | O96017 | human | H1-2 | P16403 | T167 | kPAAAtVtkkVAKsP | |
CHEK2 | O96017 | human | XRCC1 | P18887 | T284 | APtRtPAtAPVPARA | |
CHEK2 | O96017 | human | CDC25C | P30307 | S216 | sGLyRsPsMPENLNR | M-inducer_phosp |
CHEK2 | O96017 | human | PLIN2 | Q99541 | Y232 | TkLHSRAyQQALsRV | Perilipin |
CHEK2 | O96017 | human | RB1 | P06400 | S612 | MyLsPVRsPKKKGsT | |
CHEK2 | O96017 | human | CDC25A | P30304 | S279 | VLKRPErsQEEsPPG | M-inducer_phosp |
CHEK2 | O96017 | human | REV3L | O60673 | S1075 | ENIKRTLsFRKKRSH | DUF4683 |
CHEK2 | O96017 | human | BECN1 | Q14457 | S90 | IPPARMMstEsANsF | |
CHEK2 | O96017 | human | MDM4 | O15151 | S367 | PDCRRtIsAPVVRPk | |
CHEK2 | O96017 | human | TP53 | P04637 | S366 | PGGsRAHssHLkskk | |
CHEK2 | O96017 | human | E2F3 | O00716 | S124 | PALGrGGsGGGGGPP | |
CHEK2 | O96017 | human | CHEK2 | O96017 | S260 | KRKFAIGsAREADPA | Pkinase |
CHEK2 | O96017 | human | SIAH2 | O43255 | T26 | PPPQPQHtPsPAAPP | |
CHEK2 | O96017 | human | FOXM1 | Q08050-2 | S361 | PLLPRVSsYLVPIQF | |
CHEK2 | O96017 | human | XRCC1 | P18887 | S184 | EEDESANsLRPGALF | |
CHEK2 | O96017 | human | CDC25A | P30304 | S124 | PALkRSHsDsLDHDI | M-inducer_phosp |
CHEK2 | O96017 | human | INCENP | Q9NQS7 | S91 | RRLSRRKsRssQLsS | |
CHEK2 | O96017 | human | CHEK2 | O96017 | S140 | TDKYRTYsKKHFRIF | FHA |
CHEK2 | O96017 | human | CHEK2 | O96017 | S516 | PQVLAQPstSRkRPR | |
CHEK2 | O96017 | human | PSME3 | P61289 | S247 | EKIKRPRssNAETLy | PA28_beta |
CHEK2 | O96017 | human | CDC25A | P30304 | S178 | LFTQRQNsAPARMLs | M-inducer_phosp |
CHEK2 | O96017 | human | TP53 | P04637 | S20 | PLsQEtFsDLWkLLP | P53_TAD |
CHEK2 | O96017 | human | CDK11B | P21127 | S752 | QRVKRGtsPRPPEGG | |
CHEK2 | O96017 | human | LATS2 | Q9NRM7 | S172 | TPVtRRPsFEGTGDS | |
CHEK2 | O96017 | human | RBM28 | Q9NW13 | S122 | RLIIRNLsFKCSEDD | RRM_1 |
CHEK2 | O96017 | human | CHEK2 | O96017 | S35 | sQGSSsQsQGIssss | |
CHEK2 | O96017 | human | BLM | P54132 | T182 | sHFVRVStAQKSKKG | BLM_N |
CHEK2 | O96017 | human | H1-2 | P16403 | S36 | GGtPRkAsGPPVsEL | |
CHEK2 | O96017 | human | TP53 | P04637 | S378 | skkGQstsRHkkLMF | |
CHEK2 | O96017 | human | CHEK2 | O96017 | T68 | SsLEtVstQELYsIP | |
CHEK2 | O96017 | human | TRIM28 | Q13263 | S473 | sGVkRsRsGEGEVsG | |
CHEK2 | O96017 | human | PKM | P14618 | S100 | tAtEsFAsDPILyRP | PK |
CHEK2 | O96017 | human | ELAVL1 | Q15717 | S100 | VSYARPSsEVIkDAN | |
CHEK2 | O96017 | human | MDM4 | O15151 | S342 | SkLTHSLsTSDITAI | |
CHEK2 | O96017 | human | CHEK2 | O96017 | T387 | LMRtLCGtPtyLAPE | Pkinase |
CHEK2 | O96017 | human | CHEK2 | O96017 | S379 | skILGEtsLMRtLCG | Pkinase |
CHEK2 | O96017 | human | ULK1 | O75385 | S556 | GLGCRLHsAPNLsDL | |
CHEK2 | O96017 | human | CHEK2 | O96017 | T432 | PPFSEHRtQVsLkDQ | Pkinase |
CHEK2 | O96017 | human | H1-2 | P16403 | S89 | LGLksLVskGtLVQT | Linker_histone |
CHEK2 | O96017 | human | TP53 | P04637 | S15 | PsVEPPLsQEtFsDL | P53_TAD |
CHEK2 | O96017 | human | BDNF | P23560 | T62 | GLTSLADtFEHVIEE | |
CHEK2 | O96017 | human | CHEK2 | O96017 | S120 | YWFGRDksCEYCFDE | FHA |
CHEK2 | O96017 | human | AATF | Q9NY61 | S477 | ELIERkTsSLDPNDQ | TRAUB |
CHEK2 | O96017 | human | SIAH2 | O43255 | S28 | PQPQHtPsPAAPPAA | |
CHEK2 | O96017 | human | CHEK2 | O96017 | T225 | DEYIMSktLGSGACG | Pkinase |
CHEK2 | O96017 | human | CDC25A | P30304 | S293 | GSTKrRKsMsGASPk | M-inducer_phosp |
CHEK2 | O96017 | human | ELAVL1 | Q15717 | S88 | LNGLRLQskTIkVSY | RRM_1 |
CHEK2 | O96017 | human | CHEK2 | O96017 | T383 | GEtsLMRtLCGtPty | Pkinase |
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 |
CHEK2 | ID | Description | 0.00e+00 |
CHEK2 | GO:0044772 | mitotic cell cycle phase transition | 5.99e-14 |
CHEK2 | GO:1901990 | regulation of mitotic cell cycle phase transition | 2.02e-11 |
CHEK2 | GO:1901987 | regulation of cell cycle phase transition | 3.28e-10 |
CHEK2 | GO:1901988 | negative regulation of cell cycle phase transition | 1.45e-08 |
CHEK2 | GO:0000075 | cell cycle checkpoint signaling | 1.45e-08 |
CHEK2 | GO:1901991 | negative regulation of mitotic cell cycle phase transition | 1.46e-08 |
CHEK2 | GO:0045786 | negative regulation of cell cycle | 2.06e-08 |
CHEK2 | GO:0007093 | mitotic cell cycle checkpoint signaling | 2.79e-08 |
CHEK2 | GO:0010948 | negative regulation of cell cycle process | 3.20e-08 |
CHEK2 | GO:0044839 | cell cycle G2/M phase transition | 4.50e-08 |
CHEK2 | GO:0033044 | regulation of chromosome organization | 5.91e-08 |
CHEK2 | GO:0045930 | negative regulation of mitotic cell cycle | 5.91e-08 |
CHEK2 | GO:0000082 | G1/S transition of mitotic cell cycle | 6.28e-08 |
CHEK2 | GO:0044843 | cell cycle G1/S phase transition | 1.43e-07 |
CHEK2 | GO:0042770 | signal transduction in response to DNA damage | 1.45e-07 |
CHEK2 | GO:2001233 | regulation of apoptotic signaling pathway | 1.49e-07 |
CHEK2 | GO:0000086 | G2/M transition of mitotic cell cycle | 4.73e-07 |
CHEK2 | GO:0072331 | signal transduction by p53 class mediator | 2.10e-06 |
CHEK2 | GO:1902749 | regulation of cell cycle G2/M phase transition | 4.67e-06 |
CHEK2 | GO:0006302 | double-strand break repair | 4.81e-06 |
CHEK2 | GO:0000077 | DNA damage checkpoint signaling | 6.93e-06 |
CHEK2 | GO:0031570 | DNA integrity checkpoint signaling | 9.97e-06 |
CHEK2 | GO:0030330 | DNA damage respons | 2.24e-07 |
CHEK2 | GO:2000377 | regulation of reactive oxygen species metabolic process | 1.45e-05 |
CHEK2 | GO:0044773 | mitotic DNA damage checkpoint signaling | 2.19e-05 |
CHEK2 | GO:0044774 | mitotic DNA integrity checkpoint signaling | 2.67e-05 |
CHEK2 | GO:0140014 | mitotic nuclear division | 2.86e-05 |
CHEK2 | GO:1901993 | regulation of meiotic cell cycle phase transition | 3.20e-05 |
CHEK2 | GO:0001558 | regulation of cell growth | 3.30e-05 |
CHEK2 | GO:0071478 | cellular response to radiation | 3.98e-05 |
CHEK2 | GO:0051987 | positive regulation of attachment of spindle microtubules to kinetochore | 3.99e-05 |
CHEK2 | GO:2000045 | regulation of G1/S transition of mitotic cell cycle | 3.99e-05 |
CHEK2 | GO:0000070 | mitotic sister chromatid segregation | 3.99e-05 |
CHEK2 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 4.55e-05 |
CHEK2 | GO:0010389 | regulation of G2/M transition of mitotic cell cycle | 4.74e-05 |
CHEK2 | GO:0033045 | regulation of sister chromatid segregation | 4.74e-05 |
CHEK2 | GO:0044771 | meiotic cell cycle phase transition | 5.65e-05 |
CHEK2 | GO:0090235 | regulation of metaphase plate congression | 5.65e-05 |
CHEK2 | GO:0008608 | attachment of spindle microtubules to kinetochore | 6.45e-05 |
CHEK2 | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 6.45e-05 |
CHEK2 | GO:1902806 | regulation of cell cycle G1/S phase transition | 6.68e-05 |
CHEK2 | GO:0042149 | cellular response to glucose starvation | 6.68e-05 |
CHEK2 | GO:0048285 | organelle fission | 7.28e-05 |
CHEK2 | GO:0007088 | regulation of mitotic nuclear division | 7.28e-05 |
CHEK2 | GO:0016049 | cell growth | 8.00e-05 |
CHEK2 | GO:0033047 | regulation of mitotic sister chromatid segregation | 8.35e-05 |
CHEK2 | GO:0009895 | negative regulation of catabolic process | 8.35e-05 |
CHEK2 | GO:0000819 | sister chromatid segregation | 8.91e-05 |
CHEK2 | GO:0072593 | reactive oxygen species metabolic process | 1.07e-04 |
Top |
Related Drugs to NPTXR_CHEK2 |
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 NPTXR-CHEK2 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 |
Top |
Related Diseases to NPTXR_CHEK2 |
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 |
Top |
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 |