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Center for Computational Systems Medicine
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Kinase Fusion Gene Summary

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Kinase Fusion Gene Sample Information

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Kinase Fusion ORF Analysis

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Kinase Fusion Amino Acid Sequences

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Multiple Sequence Alignment of All Fusion Protein Isoforms

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Kinase Fusion Protein Functional Features

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Kinase Fusion Protein Structures

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Comparison of Fusion Protein Isoforms

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Comparison of Fusion Protein Sequences/Structures with Known Sequences/Structures from PDB

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pLDDT Scores and Difference Analysis of pLDDT Scores Between the Active Sites (Best) and Non-Active Sites.

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Ramachandran Plot of Kinase Fusion Protein Structure

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Potential Active Site Information

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Virtual Screening Results

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Kinase-Substrate Information

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Related Drugs with This Kinase Fusion Protein

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Related Disease with This Kinase Fusion Protein

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Clinical Trials of the Found Drugs/Small Molecules

Kinase Fusion Gene:CHEK2_PITPNB

Kinase Fusion Protein Summary

check button Kinase Fusion gene summary
Kinase Fusion partner gene informationKinase Fusion gene name: CHEK2_PITPNB
KinaseFusionDB ID: KFG1269
FusionGDB2.0 ID: KFG1269
HgeneTgene
Gene symbol

CHEK2

PITPNB

Gene ID

11200

23760

Gene namecheckpoint kinase 2phosphatidylinositol transfer protein beta
SynonymsCDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|TPDS4|hCds1PI-TP-beta|PtdInsTP|VIB1B
Cytomap

22q12.1

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase Chk2CHK2 checkpoint homologcds1 homologcheckpoint-like protein CHK2phosphatidylinositol transfer protein beta isoformPtdIns transfer protein betaphosphotidylinositol transfer protein, beta
Modification date2024041620240403
UniProtAcc

O96017

P48739

Ensembl transtripts involved in fusion geneENST idsENST00000382565, ENST00000382578, 
ENST00000382566, ENST00000348295, 
ENST00000544772, ENST00000404276, 
ENST00000328354, ENST00000405598, 
ENST00000382580, ENST00000402731, 
ENST00000403642, ENST00000464581, 
ENST00000335272, ENST00000320996, 
ENST00000455418, 
Context (manual curation of fusion genes in KinaseFusionDB)

PubMed: CHEK2 [Title/Abstract] AND PITPNB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)
check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCHEK2

GO:0006355

regulation of DNA-templated transcription

12717439

HgeneCHEK2

GO:0006468

protein phosphorylation

12717439|18833288

HgeneCHEK2

GO:0006974

DNA damage response

24550317

HgeneCHEK2

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

12402044

HgeneCHEK2

GO:0042770

signal transduction in response to DNA damage

14744935

HgeneCHEK2

GO:0045893

positive regulation of DNA-templated transcription

17101782

HgeneCHEK2

GO:0046777

protein autophosphorylation

16794575|18644861

HgeneCHEK2

GO:0050821

protein stabilization

12717439|18833288

TgenePITPNB

GO:0015914

phospholipid transport

16274224


check buttonKinase Fusion gene breakpoints across CHEK2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonKinase Fusion gene breakpoints across PITPNB (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

check buttonKinase Fusion gene information.
check button 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.
SourceSampleHgeneHchrHbpTgeneTchrTbp
CCLEWM-88CHEK2chr22

29137757

PITPNBchr22

28269803



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Kinase Fusion ORF Analysis


check buttonKinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)		Seq length
(amino acids)

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Kinase Fusion Amino Acid Sequences


check button 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


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHEK2

O96017

PITPNB

P48739

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}.FUNCTION: Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum; phosphatidylinositol and phosphatidylcholine transfer activity is essential for this function (PubMed:20332109). {ECO:0000250|UniProtKB:Q9TR36, ECO:0000269|PubMed:10531358, ECO:0000269|PubMed:18636990, ECO:0000269|PubMed:20332109}.

check buttonRetention 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

download page

* Minus value of BPloci means that the break pointn is located before the CDS.

check button - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt).
PartnerHgeneeneHbpTgeneeneTbpENSTBPexonTotalExonProtein feature lociBPlociTotalLenFeatureNote


check button - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt).
PartnerHgeneeneHbpTgeneeneTbpENSTBPexonTotalExonProtein feature lociBPlociTotalLenFeatureNote


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Kinase-Substrate Information of CHEK2_PITPNB


check button Phosphorylation target of the kinase
(phosphosite, 03-17-2024)
KinaseKinase UniProt AccKinase speciesSubstrateSubstrate UniProt AccSubstrate phosphorylated residuesSubstrate phosphorylated sites (+/-7AA)Domain
CHEK2O96017humanSIAH2O43255S68GGGAGPVsPQHHELT
CHEK2O96017humanTP53P04637S37NVLsPLPsQAMDDLMTAD2
CHEK2O96017humanCHEK2O96017S33tQsQGSSsQsQGIss
CHEK2O96017humanCHEK2O96017S435SEHRtQVsLkDQITSPkinase
CHEK2O96017humanTTKP33981T288sPDCDVktDDsVVPC
CHEK2O96017humanAATFQ9NY61S510KKVDRKAsKGRKLRFTRAUB
CHEK2O96017humanSIAH2O43255T119PTCRGALtPSIRNLA
CHEK2O96017humanAURKBQ96GD4S331HPWVRANsRRVLPPS
CHEK2O96017humanBAIAP2L1Q9UHR4S331PSLQRsVsVAtGLNM
CHEK2O96017humanLATS2Q9NRM7S446HILHPVKsVRVLRPE
CHEK2O96017humanTP53P04637T18EPPLsQEtFsDLWkLP53_TAD
CHEK2O96017humanELAVL1Q15717T118sGLPRTMtQkDVEDMRRM_1
CHEK2O96017humanPMLP29590-3S117ESLQRRLsVYRQIVD
CHEK2O96017humanLATS2Q9NRM7S408PVPSRTNsFNSHQPR
CHEK2O96017humanBECN1Q14457S93ARMMstEsANsFTLI
CHEK2O96017humanAATFQ9NY61S143SKKSRSHsAktPGFs
CHEK2O96017humanE2F1Q01094S364PLLSRMGsLRAPVDE
CHEK2O96017humanMAPTP10636-8S262NVKskIGstENLkHQTubulin-binding
CHEK2O96017humanH1-2P16403T92ksLVskGtLVQTkGtLinker_histone
CHEK2O96017humanBRCA1P38398S988PPLFPIksFVKTKCK
CHEK2O96017humanVHLP40337S111GtGRRIHsyRGHLWLVHL
CHEK2O96017humanH1-2P16403S55VAAskErsGVsLAALLinker_histone
CHEK2O96017humanLATS2Q9NRM7S380ATLARRDsLQKPGLE
CHEK2O96017humanXRCC1P18887S210AsDPAGPsyAAATLQ
CHEK2O96017humanCHEK2O96017S19sHGsSACsQPHGsVt
CHEK2O96017humanPLIN3O60664Y251ErLRQHAyEHSLGkLPerilipin
CHEK2O96017humanH1-2P16403T167kPAAAtVtkkVAKsP
CHEK2O96017humanXRCC1P18887T284APtRtPAtAPVPARA
CHEK2O96017humanCDC25CP30307S216sGLyRsPsMPENLNRM-inducer_phosp
CHEK2O96017humanPLIN2Q99541Y232TkLHSRAyQQALsRVPerilipin
CHEK2O96017humanRB1P06400S612MyLsPVRsPKKKGsT
CHEK2O96017humanCDC25AP30304S279VLKRPErsQEEsPPGM-inducer_phosp
CHEK2O96017humanREV3LO60673S1075ENIKRTLsFRKKRSHDUF4683
CHEK2O96017humanBECN1Q14457S90IPPARMMstEsANsF
CHEK2O96017humanMDM4O15151S367PDCRRtIsAPVVRPk
CHEK2O96017humanTP53P04637S366PGGsRAHssHLkskk
CHEK2O96017humanE2F3O00716S124PALGrGGsGGGGGPP
CHEK2O96017humanCHEK2O96017S260KRKFAIGsAREADPAPkinase
CHEK2O96017humanSIAH2O43255T26PPPQPQHtPsPAAPP
CHEK2O96017humanFOXM1Q08050-2S361PLLPRVSsYLVPIQF
CHEK2O96017humanXRCC1P18887S184EEDESANsLRPGALF
CHEK2O96017humanCDC25AP30304S124PALkRSHsDsLDHDIM-inducer_phosp
CHEK2O96017humanINCENPQ9NQS7S91RRLSRRKsRssQLsS
CHEK2O96017humanCHEK2O96017S140TDKYRTYsKKHFRIFFHA
CHEK2O96017humanCHEK2O96017S516PQVLAQPstSRkRPR
CHEK2O96017humanPSME3P61289S247EKIKRPRssNAETLyPA28_beta
CHEK2O96017humanCDC25AP30304S178LFTQRQNsAPARMLsM-inducer_phosp
CHEK2O96017humanTP53P04637S20PLsQEtFsDLWkLLPP53_TAD
CHEK2O96017humanCDK11BP21127S752QRVKRGtsPRPPEGG
CHEK2O96017humanLATS2Q9NRM7S172TPVtRRPsFEGTGDS
CHEK2O96017humanRBM28Q9NW13S122RLIIRNLsFKCSEDDRRM_1
CHEK2O96017humanCHEK2O96017S35sQGSSsQsQGIssss
CHEK2O96017humanBLMP54132T182sHFVRVStAQKSKKGBLM_N
CHEK2O96017humanH1-2P16403S36GGtPRkAsGPPVsEL
CHEK2O96017humanTP53P04637S378skkGQstsRHkkLMF
CHEK2O96017humanCHEK2O96017T68SsLEtVstQELYsIP
CHEK2O96017humanTRIM28Q13263S473sGVkRsRsGEGEVsG
CHEK2O96017humanPKMP14618S100tAtEsFAsDPILyRPPK
CHEK2O96017humanELAVL1Q15717S100VSYARPSsEVIkDAN
CHEK2O96017humanMDM4O15151S342SkLTHSLsTSDITAI
CHEK2O96017humanCHEK2O96017T387LMRtLCGtPtyLAPEPkinase
CHEK2O96017humanCHEK2O96017S379skILGEtsLMRtLCGPkinase
CHEK2O96017humanULK1O75385S556GLGCRLHsAPNLsDL
CHEK2O96017humanCHEK2O96017T432PPFSEHRtQVsLkDQPkinase
CHEK2O96017humanH1-2P16403S89LGLksLVskGtLVQTLinker_histone
CHEK2O96017humanTP53P04637S15PsVEPPLsQEtFsDLP53_TAD
CHEK2O96017humanBDNFP23560T62GLTSLADtFEHVIEE
CHEK2O96017humanCHEK2O96017S120YWFGRDksCEYCFDEFHA
CHEK2O96017humanAATFQ9NY61S477ELIERkTsSLDPNDQTRAUB
CHEK2O96017humanSIAH2O43255S28PQPQHtPsPAAPPAA
CHEK2O96017humanCHEK2O96017T225DEYIMSktLGSGACGPkinase
CHEK2O96017humanCDC25AP30304S293GSTKrRKsMsGASPkM-inducer_phosp
CHEK2O96017humanELAVL1Q15717S88LNGLRLQskTIkVSYRRM_1
CHEK2O96017humanCHEK2O96017T383GEtsLMRtLCGtPtyPkinase


check button Biological Network Integration of This Kinase and Substrates
(GeneMANIA website)

check button Enriched GO biological processes of the phosphorylation target genes of the kinase
KinaseGOIDGO termP.adjust
CHEK2IDDescription0.00e+00
CHEK2GO:0044772mitotic cell cycle phase transition5.99e-14
CHEK2GO:1901990regulation of mitotic cell cycle phase transition2.02e-11
CHEK2GO:1901987regulation of cell cycle phase transition3.28e-10
CHEK2GO:1901988negative regulation of cell cycle phase transition1.45e-08
CHEK2GO:0000075cell cycle checkpoint signaling1.45e-08
CHEK2GO:1901991negative regulation of mitotic cell cycle phase transition1.46e-08
CHEK2GO:0045786negative regulation of cell cycle2.06e-08
CHEK2GO:0007093mitotic cell cycle checkpoint signaling2.79e-08
CHEK2GO:0010948negative regulation of cell cycle process3.20e-08
CHEK2GO:0044839cell cycle G2/M phase transition4.50e-08
CHEK2GO:0033044regulation of chromosome organization5.91e-08
CHEK2GO:0045930negative regulation of mitotic cell cycle5.91e-08
CHEK2GO:0000082G1/S transition of mitotic cell cycle6.28e-08
CHEK2GO:0044843cell cycle G1/S phase transition1.43e-07
CHEK2GO:0042770signal transduction in response to DNA damage1.45e-07
CHEK2GO:2001233regulation of apoptotic signaling pathway1.49e-07
CHEK2GO:0000086G2/M transition of mitotic cell cycle4.73e-07
CHEK2GO:0072331signal transduction by p53 class mediator2.10e-06
CHEK2GO:1902749regulation of cell cycle G2/M phase transition4.67e-06
CHEK2GO:0006302double-strand break repair4.81e-06
CHEK2GO:0000077DNA damage checkpoint signaling6.93e-06
CHEK2GO:0031570DNA integrity checkpoint signaling9.97e-06
CHEK2GO:0030330DNA damage respons2.24e-07
CHEK2GO:2000377regulation of reactive oxygen species metabolic process1.45e-05
CHEK2GO:0044773mitotic DNA damage checkpoint signaling2.19e-05
CHEK2GO:0044774mitotic DNA integrity checkpoint signaling2.67e-05
CHEK2GO:0140014mitotic nuclear division2.86e-05
CHEK2GO:1901993regulation of meiotic cell cycle phase transition3.20e-05
CHEK2GO:0001558regulation of cell growth3.30e-05
CHEK2GO:0071478cellular response to radiation3.98e-05
CHEK2GO:0051987positive regulation of attachment of spindle microtubules to kinetochore3.99e-05
CHEK2GO:2000045regulation of G1/S transition of mitotic cell cycle3.99e-05
CHEK2GO:0000070mitotic sister chromatid segregation3.99e-05
CHEK2GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage4.55e-05
CHEK2GO:0010389regulation of G2/M transition of mitotic cell cycle4.74e-05
CHEK2GO:0033045regulation of sister chromatid segregation4.74e-05
CHEK2GO:0044771meiotic cell cycle phase transition5.65e-05
CHEK2GO:0090235regulation of metaphase plate congression5.65e-05
CHEK2GO:0008608attachment of spindle microtubules to kinetochore6.45e-05
CHEK2GO:2000378negative regulation of reactive oxygen species metabolic process6.45e-05
CHEK2GO:1902806regulation of cell cycle G1/S phase transition6.68e-05
CHEK2GO:0042149cellular response to glucose starvation6.68e-05
CHEK2GO:0048285organelle fission7.28e-05
CHEK2GO:0007088regulation of mitotic nuclear division7.28e-05
CHEK2GO:0016049cell growth8.00e-05
CHEK2GO:0033047regulation of mitotic sister chromatid segregation8.35e-05
CHEK2GO:0009895negative regulation of catabolic process8.35e-05
CHEK2GO:0000819sister chromatid segregation8.91e-05
CHEK2GO:0072593reactive oxygen species metabolic process1.07e-04

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Related Drugs to CHEK2_PITPNB


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

check button Distribution of the number of studies mentioning CHEK2-PITPNB and kinase inhibitors the PubMed Abstract (04-01-2024)

Fusion gene - drug pair 1Fusion gene - drug pair 2PMIDPublication dateDOIStudy title

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Related Diseases to CHEK2_PITPNB


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Related diseases from the literature mentioned this fusion gene and drug.
(PubMed, 04-01-2024)
MeSH IDMeSH term

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource


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Clinical Trials of the Found Drugs/Small Molecules


check button Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024)

check button Clinical Trials from clinicaltrials.gov (06-17-2024)

Fusion GeneKinase InhibitorNCT IDStudy StatusPhasesDisease# EnrolmentDate