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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:DNAJB12-NEK5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DNAJB12-NEK5
FusionPDB ID: 23407
FusionGDB2.0 ID: 23407
HgeneTgene
Gene symbol

DNAJB12

NEK5

Gene ID

54788

341676

Gene nameDnaJ heat shock protein family (Hsp40) member B12NIMA related kinase 5
SynonymsDJ10-
Cytomap

10q22.1

13q14.3

Type of geneprotein-codingprotein-coding
DescriptiondnaJ homolog subfamily B member 12DnaJ (Hsp40) homolog, subfamily B, member 12serine/threonine-protein kinase Nek5NIMA (never in mitosis gene a)-related kinase 5nimA-related protein kinase 5
Modification date2020031320200313
UniProtAcc

Q9NXW2

Q6P3R8

Ensembl transtripts involved in fusion geneENST idsENST00000338820, ENST00000394903, 
ENST00000444643, ENST00000461919, 
ENST00000529080, ENST00000355568, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 2 X 2=123 X 3 X 3=27
# samples 43
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DNAJB12 [Title/Abstract] AND NEK5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DNAJB12(74114523)-NEK5(52650279), # samples:1
Anticipated loss of major functional domain due to fusion event.DNAJB12-NEK5 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.
DNAJB12-NEK5 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
HgeneDNAJB12

GO:0034622

cellular protein-containing complex assembly

27916661

HgeneDNAJB12

GO:0036503

ERAD pathway

21148293|21150129

HgeneDNAJB12

GO:0051085

chaperone cofactor-dependent protein refolding

27916661

HgeneDNAJB12

GO:0071218

cellular response to misfolded protein

21148293|21150129


check buttonFusion gene breakpoints across DNAJB12 (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 NEK5 (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
ChimerDB4STADTCGA-BR-8284-01ADNAJB12chr10

74114523

-NEK5chr13

52650279

-


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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)
ENST00000394903DNAJB12chr1074114523-ENST00000355568NEK5chr1352650279-1516385241864207
ENST00000338820DNAJB12chr1074114523-ENST00000355568NEK5chr1352650279-1516385241864207
ENST00000444643DNAJB12chr1074114523-ENST00000355568NEK5chr1352650279-1597466322945207

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
ENST00000394903ENST00000355568DNAJB12chr1074114523-NEK5chr1352650279-0.0014761820.9985239
ENST00000338820ENST00000355568DNAJB12chr1074114523-NEK5chr1352650279-0.0014761820.9985239
ENST00000444643ENST00000355568DNAJB12chr1074114523-NEK5chr1352650279-0.001269430.9987306

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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

>23407_23407_1_DNAJB12-NEK5_DNAJB12_chr10_74114523_ENST00000338820_NEK5_chr13_52650279_ENST00000355568_length(amino acids)=207AA_BP=46
MVPPWNPTRMKLSAVSASPSRPSRATSPTGRSASWRRHSGCIRRREFADIEKDLKQMRLQNTKESKNPEQKYKAKKGVKFEINLDKCISD
ENILQEEEAMDIPNETLTFEDGMKFKEYECVKEHGDYTDKAFEKLHCPEAGFSTQTVAAVGNRRQWDGGAPQTLLQMMAVADITSTCPTG

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

>23407_23407_2_DNAJB12-NEK5_DNAJB12_chr10_74114523_ENST00000394903_NEK5_chr13_52650279_ENST00000355568_length(amino acids)=207AA_BP=46
MVPPWNPTRMKLSAVSASPSRPSRATSPTGRSASWRRHSGCIRRREFADIEKDLKQMRLQNTKESKNPEQKYKAKKGVKFEINLDKCISD
ENILQEEEAMDIPNETLTFEDGMKFKEYECVKEHGDYTDKAFEKLHCPEAGFSTQTVAAVGNRRQWDGGAPQTLLQMMAVADITSTCPTG

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

>23407_23407_3_DNAJB12-NEK5_DNAJB12_chr10_74114523_ENST00000444643_NEK5_chr13_52650279_ENST00000355568_length(amino acids)=207AA_BP=46
MVPPWNPTRMKLSAVSASPSRPSRATSPTGRSASWRRHSGCIRRREFADIEKDLKQMRLQNTKESKNPEQKYKAKKGVKFEINLDKCISD
ENILQEEEAMDIPNETLTFEDGMKFKEYECVKEHGDYTDKAFEKLHCPEAGFSTQTVAAVGNRRQWDGGAPQTLLQMMAVADITSTCPTG

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

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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/chr10:74114523/chr13:52650279)
- 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
DNAJB12

Q9NXW2

NEK5

Q6P3R8

FUNCTION: Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:21150129, PubMed:21148293). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912). {ECO:0000269|PubMed:21148293, ECO:0000269|PubMed:21150129, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}.; FUNCTION: (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744). {ECO:0000269|PubMed:21673190, ECO:0000269|PubMed:24675744}.

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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-19112_17644.333333333333336807.6666666666666DomainJ
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-191_24344.333333333333336807.6666666666666Topological domainCytoplasmic
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-19265_37544.333333333333336807.6666666666666Topological domainLumenal
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-19244_26444.333333333333336807.6666666666666TransmembraneHelical
TgeneNEK5chr10:74114523chr13:52650279ENST0000035556817224_259549.0709.0DomainProtein kinase
TgeneNEK5chr10:74114523chr13:52650279ENST00000355568172210_18549.0709.0Nucleotide bindingATP


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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
DNAJB12
NEK5


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


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Related Drugs to DNAJB12-NEK5


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 DNAJB12-NEK5


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