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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:NEK3-GXYLT2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NEK3-GXYLT2
FusionPDB ID: 58516
FusionGDB2.0 ID: 58516
HgeneTgene
Gene symbol

NEK3

GXYLT2

Gene ID

4752

727936

Gene nameNIMA related kinase 3glucoside xylosyltransferase 2
SynonymsHSPK36GLT8D4
Cytomap

13q14.3

3p13

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase Nek3HSPK 36NIMA (never in mitosis gene a)-related kinase 3glycogen synthase A kinasehydroxyalkyl-protein kinasenever in mitosis A-related kinase 3nimA-related protein kinase 3phosphorylase B kinase kinaseglucoside xylosyltransferase 2glycosyltransferase 8 domain containing 4glycosyltransferase 8 domain-containing protein 4
Modification date2020031320200313
UniProtAcc

P51956

A0PJZ3

Ensembl transtripts involved in fusion geneENST idsENST00000339406, ENST00000378101, 
ENST00000400357, ENST00000452082, 
ENST00000389617, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score7 X 6 X 5=2109 X 8 X 5=360
# samples 710
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NEK3 [Title/Abstract] AND GXYLT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NEK3(52722550)-GXYLT2(73006380), # samples:3
GXYLT2(72971486)-NEK3(52719026), # samples:2
Anticipated loss of major functional domain due to fusion event.NEK3-GXYLT2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NEK3-GXYLT2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
GXYLT2-NEK3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
GXYLT2-NEK3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneGXYLT2

GO:0016266

O-glycan processing

19940119


check buttonFusion gene breakpoints across NEK3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across GXYLT2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SKCMTCGA-EB-A44R-06ANEK3chr13

52722550

-GXYLT2chr3

73006380

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000378101NEK3chr1352722550-ENST00000389617GXYLT2chr373006380+3085838941317407
ENST00000339406NEK3chr1352722550-ENST00000389617GXYLT2chr373006380+32269793581458366
ENST00000452082NEK3chr1352722550-ENST00000389617GXYLT2chr373006380+4144189712312376381
ENST00000400357NEK3chr1352722550-ENST00000389617GXYLT2chr373006380+4144189712312376381

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000378101ENST00000389617NEK3chr1352722550-GXYLT2chr373006380+0.0005471120.9994529
ENST00000339406ENST00000389617NEK3chr1352722550-GXYLT2chr373006380+0.0006013210.9993987
ENST00000452082ENST00000389617NEK3chr1352722550-GXYLT2chr373006380+0.0001768710.99982315
ENST00000400357ENST00000389617NEK3chr1352722550-GXYLT2chr373006380+0.0001768710.99982315

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>58516_58516_1_NEK3-GXYLT2_NEK3_chr13_52722550_ENST00000339406_GXYLT2_chr3_73006380_ENST00000389617_length(amino acids)=366AA_BP=207
MCGCPSMDDYMVLRMIGEGSFGRALLVQHESSNQMFAMKEIRLPKSFSNTQNSRKEAVLLAKMKHPNIVAFKESFEAEGHLYIVMEYCDG
GDLMQKIKQQKGKLFPEDMILNWFTQMCLGVNHIHKKRVLHRDIKSKNIFLTQNGKVKLGDFGSARLLSNPMAFACTYVGTPYYVPPEIW
ENLPYNNKSDIWSLGCILYELCTLKHPNSMIPTGLAWEDMLYPLYQKYKNAITWGDQDLLNIIFYFNPECLYVFPCQWNYRPDHCMYGSN
CREAEHEGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQIEKTMKRAYEKHVIIHV

--------------------------------------------------------------

>58516_58516_2_NEK3-GXYLT2_NEK3_chr13_52722550_ENST00000378101_GXYLT2_chr3_73006380_ENST00000389617_length(amino acids)=407AA_BP=248
MGSPAVQLPRGRRPRLNGFFSLAARKEPFGRAHGDCVSGAQLCGCPSMDDYMVLRMIGEGSFGRALLVQHESSNQMFAMKEIRLPKSFSN
TQNSRKEAVLLAKMKHPNIVAFKESFEAEGHLYIVMEYCDGGDLMQKIKQQKGKLFPEDMILNWFTQMCLGVNHIHKKRVLHRDIKSKNI
FLTQNGKVKLGDFGSARLLSNPMAFACTYVGTPYYVPPEIWENLPYNNKSDIWSLGCILYELCTLKHPNSMIPTGLAWEDMLYPLYQKYK
NAITWGDQDLLNIIFYFNPECLYVFPCQWNYRPDHCMYGSNCREAEHEGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYY

--------------------------------------------------------------

>58516_58516_3_NEK3-GXYLT2_NEK3_chr13_52722550_ENST00000400357_GXYLT2_chr3_73006380_ENST00000389617_length(amino acids)=381AA_BP=222
MQFGRAHGDCVSGAQLCGCPSMDDYMVLRMIGEGSFGRALLVQHESSNQMFAMKEIRLPKSFSNTQNSRKEAVLLAKMKHPNIVAFKESF
EAEGHLYIVMEYCDGGDLMQKIKQQKGKLFPEDMILNWFTQMCLGVNHIHKKRVLHRDIKSKNIFLTQNGKVKLGDFGSARLLSNPMAFA
CTYVGTPYYVPPEIWENLPYNNKSDIWSLGCILYELCTLKHPNSMIPTGLAWEDMLYPLYQKYKNAITWGDQDLLNIIFYFNPECLYVFP
CQWNYRPDHCMYGSNCREAEHEGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQIE

--------------------------------------------------------------

>58516_58516_4_NEK3-GXYLT2_NEK3_chr13_52722550_ENST00000452082_GXYLT2_chr3_73006380_ENST00000389617_length(amino acids)=381AA_BP=222
MQFGRAHGDCVSGAQLCGCPSMDDYMVLRMIGEGSFGRALLVQHESSNQMFAMKEIRLPKSFSNTQNSRKEAVLLAKMKHPNIVAFKESF
EAEGHLYIVMEYCDGGDLMQKIKQQKGKLFPEDMILNWFTQMCLGVNHIHKKRVLHRDIKSKNIFLTQNGKVKLGDFGSARLLSNPMAFA
CTYVGTPYYVPPEIWENLPYNNKSDIWSLGCILYELCTLKHPNSMIPTGLAWEDMLYPLYQKYKNAITWGDQDLLNIIFYFNPECLYVFP
CQWNYRPDHCMYGSNCREAEHEGVSVLHGNRGVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQIE

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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/chr13:52722550/chr3:73006380)
- 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
NEK3

P51956

GXYLT2

A0PJZ3

FUNCTION: Protein kinase which influences neuronal morphogenesis and polarity through effects on microtubules. Regulates microtubule acetylation in neurons. Contributes to prolactin-mediated phosphorylation of PXN and VAV2. Implicated in prolactin-mediated cytoskeletal reorganization and motility of breast cancer cells through mechanisms involving RAC1 activation and phosphorylation of PXN and VAV2. {ECO:0000269|PubMed:15618286, ECO:0000269|PubMed:17297458}.FUNCTION: Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. {ECO:0000269|PubMed:19940119}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNEK3chr13:52722550chr3:73006380ENST00000400357-71410_18201.0490.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNEK3chr13:52722550chr3:73006380ENST00000400357-7144_257201.0490.0DomainProtein kinase
TgeneGXYLT2chr13:52722550chr3:73006380ENST000003896173768_98284.0444.0Compositional biasNote=Arg-rich
TgeneGXYLT2chr13:52722550chr3:73006380ENST00000389617371_4284.0444.0Topological domainCytoplasmic
TgeneGXYLT2chr13:52722550chr3:73006380ENST000003896173726_443284.0444.0Topological domainLumenal
TgeneGXYLT2chr13:52722550chr3:73006380ENST00000389617375_25284.0444.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NEK3
GXYLT2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneNEK3chr13:52722550chr3:73006380ENST00000400357-7141_285201.0490.0VAV2


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Related Drugs to NEK3-GXYLT2


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

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Related Diseases to NEK3-GXYLT2


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

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