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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DNAJB12-NEK5 (FusionGDB2 ID:HG54788TG341676)

Fusion Gene Summary for DNAJB12-NEK5

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJB12-NEK5
Fusion gene ID: hg54788tg341676
HgeneTgene
Gene symbol

DNAJB12

NEK5

Gene ID

54788

341676

Gene nameDnaJ heat shock protein family (Hsp40) member B12NIMA related kinase 5
SynonymsDJ10-
Cytomap('DNAJB12')('NEK5')

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 geneENST00000338820, ENST00000394903, 
ENST00000444643, ENST00000461919, 
Fusion gene scores* 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

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

Most frequent breakpointDNAJB12(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

check button Fusion gene information
* 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 Gene ORF analysis for DNAJB12-NEK5

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000338820ENST00000529080DNAJB12chr10

74114523

-NEK5chr13

52650279

-
5CDS-intronENST00000394903ENST00000529080DNAJB12chr10

74114523

-NEK5chr13

52650279

-
5CDS-intronENST00000444643ENST00000529080DNAJB12chr10

74114523

-NEK5chr13

52650279

-
In-frameENST00000338820ENST00000355568DNAJB12chr10

74114523

-NEK5chr13

52650279

-
In-frameENST00000394903ENST00000355568DNAJB12chr10

74114523

-NEK5chr13

52650279

-
In-frameENST00000444643ENST00000355568DNAJB12chr10

74114523

-NEK5chr13

52650279

-
intron-3CDSENST00000461919ENST00000355568DNAJB12chr10

74114523

-NEK5chr13

52650279

-
intron-intronENST00000461919ENST00000529080DNAJB12chr10

74114523

-NEK5chr13

52650279

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
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 Genomic Features for DNAJB12-NEK5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for DNAJB12-NEK5


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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-19112_17644807.6666666666666DomainJ
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-191_24344807.6666666666666Topological domainCytoplasmic
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-19265_37544807.6666666666666Topological domainLumenal
HgeneDNAJB12chr10:74114523chr13:52650279ENST00000444643-19244_26444807.6666666666666TransmembraneHelical
TgeneNEK5chr10:74114523chr13:52650279ENST0000035556817224_259549709.0DomainProtein kinase
TgeneNEK5chr10:74114523chr13:52650279ENST00000355568172210_18549709.0Nucleotide bindingATP


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Fusion Gene Sequence for DNAJB12-NEK5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>23407_23407_1_DNAJB12-NEK5_DNAJB12_chr10_74114523_ENST00000338820_NEK5_chr13_52650279_ENST00000355568_length(transcript)=1516nt_BP=385nt
GTTGGCGCATACTCAACTCTAAGACCTCCGGAACATGGAATCTGGGCGTGCACCATTATTGACACCTACACCAGCCGTCCCTTTCTTAGA
AGACATACGGTAGCACTTCCACCCTCGCTCAAAACTCGGGAAAGGAGGGGCGGAGGGTGGATGTCATCACTCCGCGCCCGGCTGCCCGCG
ACGCGCCGGCGGGTGGCGCAGCCCTTCGCTCGCCCGGCCTCCCCCTCCCTGGTTCCGCGTTCTGGTTCCGCCATGGAATCCAACAAGGAT
GAAGCTGAGCGCTGTATCAGCATCGCCCTCAAGGCCATCCAGAGCAACCAGCCCGACCGGGCGCTCCGCTTCCTGGAGAAGGCACAGCGG
CTGTATCCGACGCCGCGAGTTCGCGGACATTGAAAAAGACTTGAAACAAATGAGGCTTCAGAACACAAAGGAAAGTAAAAATCCAGAACA
GAAATATAAAGCTAAGAAGGGGGTAAAATTTGAAATTAATTTAGACAAATGTATTTCTGATGAAAACATCCTCCAAGAGGAAGAGGCAAT
GGATATACCAAATGAAACTTTGACCTTTGAGGATGGCATGAAGTTTAAGGAATATGAATGTGTAAAGGAGCATGGAGATTATACAGACAA
AGCATTTGAAAAACTTCACTGCCCAGAAGCAGGGTTTTCCACGCAGACTGTAGCTGCTGTGGGAAACAGGAGGCAGTGGGATGGAGGAGC
GCCTCAGACTCTGCTGCAGATGATGGCAGTGGCCGACATCACCTCCACCTGCCCCACGGGGCCTGACAGTGAGTCTGTGCTTAGCGTCAG
TCGTCAGGAAGGGAAGACCAAGGACCCGTACAGCCCAGTGCTCATCCTGATGTGATAGTCTACTTCTCACTATACACCCTATAGATCTTG
TATCAGACACTTTCAAATATGTTGTTTTGATATCTCCCTATGCCTAAAGAGACTTGCCTGCTAATTATCCTGGACAAATGACCACTCTAG
ACATGCACATATAAAGGAGGAAAAATCCAGGATGCCACCTTCCTCAGAGTGAGGGAAAATGCGTGAGGAAGGACAGCTGACTTGATTTAC
CTTCCAAGGCCAGCTCAACAACTTTTTTTGCGATTTCATAGGGTCATTTTTTTTTTTTTAATTTTTATTTTTTATTGATCATTCTTGGGT
GTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTT
TCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCT
GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACTGCCCTTAATCCATTCATCTCTGAGTGGACACAGCACATGTTTCAGAGAGCAC

>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(transcript)=1516nt_BP=385nt
GTTGGCGCATACTCAACTCTAAGACCTCCGGAACATGGAATCTGGGCGTGCACCATTATTGACACCTACACCAGCCGTCCCTTTCTTAGA
AGACATACGGTAGCACTTCCACCCTCGCTCAAAACTCGGGAAAGGAGGGGCGGAGGGTGGATGTCATCACTCCGCGCCCGGCTGCCCGCG
ACGCGCCGGCGGGTGGCGCAGCCCTTCGCTCGCCCGGCCTCCCCCTCCCTGGTTCCGCGTTCTGGTTCCGCCATGGAATCCAACAAGGAT
GAAGCTGAGCGCTGTATCAGCATCGCCCTCAAGGCCATCCAGAGCAACCAGCCCGACCGGGCGCTCCGCTTCCTGGAGAAGGCACAGCGG
CTGTATCCGACGCCGCGAGTTCGCGGACATTGAAAAAGACTTGAAACAAATGAGGCTTCAGAACACAAAGGAAAGTAAAAATCCAGAACA
GAAATATAAAGCTAAGAAGGGGGTAAAATTTGAAATTAATTTAGACAAATGTATTTCTGATGAAAACATCCTCCAAGAGGAAGAGGCAAT
GGATATACCAAATGAAACTTTGACCTTTGAGGATGGCATGAAGTTTAAGGAATATGAATGTGTAAAGGAGCATGGAGATTATACAGACAA
AGCATTTGAAAAACTTCACTGCCCAGAAGCAGGGTTTTCCACGCAGACTGTAGCTGCTGTGGGAAACAGGAGGCAGTGGGATGGAGGAGC
GCCTCAGACTCTGCTGCAGATGATGGCAGTGGCCGACATCACCTCCACCTGCCCCACGGGGCCTGACAGTGAGTCTGTGCTTAGCGTCAG
TCGTCAGGAAGGGAAGACCAAGGACCCGTACAGCCCAGTGCTCATCCTGATGTGATAGTCTACTTCTCACTATACACCCTATAGATCTTG
TATCAGACACTTTCAAATATGTTGTTTTGATATCTCCCTATGCCTAAAGAGACTTGCCTGCTAATTATCCTGGACAAATGACCACTCTAG
ACATGCACATATAAAGGAGGAAAAATCCAGGATGCCACCTTCCTCAGAGTGAGGGAAAATGCGTGAGGAAGGACAGCTGACTTGATTTAC
CTTCCAAGGCCAGCTCAACAACTTTTTTTGCGATTTCATAGGGTCATTTTTTTTTTTTTAATTTTTATTTTTTATTGATCATTCTTGGGT
GTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTT
TCTAGGCAGAGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCT
GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACTGCCCTTAATCCATTCATCTCTGAGTGGACACAGCACATGTTTCAGAGAGCAC

>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(transcript)=1597nt_BP=466nt
ACTCCGAAGGCCCCAGTCTCATCCCGACGGCTACCACGTGACCTTCCTGAGCTTGGGTTTCCTCCTCCGGAAGATTAGAGGGTTGGCGCA
TACTCAACTCTAAGACCTCCGGAACATGGAATCTGGGCGTGCACCATTATTGACACCTACACCAGCCGTCCCTTTCTTAGAAGACATACG
GTAGCACTTCCACCCTCGCTCAAAACTCGGGAAAGGAGGGGCGGAGGGTGGATGTCATCACTCCGCGCCCGGCTGCCCGCGACGCGCCGG
CGGGTGGCGCAGCCCTTCGCTCGCCCGGCCTCCCCCTCCCTGGTTCCGCGTTCTGGTTCCGCCATGGAATCCAACAAGGATGAAGCTGAG
CGCTGTATCAGCATCGCCCTCAAGGCCATCCAGAGCAACCAGCCCGACCGGGCGCTCCGCTTCCTGGAGAAGGCACAGCGGCTGTATCCG
ACGCCGCGAGTTCGCGGACATTGAAAAAGACTTGAAACAAATGAGGCTTCAGAACACAAAGGAAAGTAAAAATCCAGAACAGAAATATAA
AGCTAAGAAGGGGGTAAAATTTGAAATTAATTTAGACAAATGTATTTCTGATGAAAACATCCTCCAAGAGGAAGAGGCAATGGATATACC
AAATGAAACTTTGACCTTTGAGGATGGCATGAAGTTTAAGGAATATGAATGTGTAAAGGAGCATGGAGATTATACAGACAAAGCATTTGA
AAAACTTCACTGCCCAGAAGCAGGGTTTTCCACGCAGACTGTAGCTGCTGTGGGAAACAGGAGGCAGTGGGATGGAGGAGCGCCTCAGAC
TCTGCTGCAGATGATGGCAGTGGCCGACATCACCTCCACCTGCCCCACGGGGCCTGACAGTGAGTCTGTGCTTAGCGTCAGTCGTCAGGA
AGGGAAGACCAAGGACCCGTACAGCCCAGTGCTCATCCTGATGTGATAGTCTACTTCTCACTATACACCCTATAGATCTTGTATCAGACA
CTTTCAAATATGTTGTTTTGATATCTCCCTATGCCTAAAGAGACTTGCCTGCTAATTATCCTGGACAAATGACCACTCTAGACATGCACA
TATAAAGGAGGAAAAATCCAGGATGCCACCTTCCTCAGAGTGAGGGAAAATGCGTGAGGAAGGACAGCTGACTTGATTTACCTTCCAAGG
CCAGCTCAACAACTTTTTTTGCGATTTCATAGGGTCATTTTTTTTTTTTTAATTTTTATTTTTTATTGATCATTCTTGGGTGTTTCTCGC
AGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTTCTAGGCAG
AGGACCCTGTGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGATTCTTAACGAGCATGCTGCCTTCAAG
CATCTGTTTAACAAAGCACATCTTGCACTGCCCTTAATCCATTCATCTCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGG

>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 Gene PPI Analysis for DNAJB12-NEK5


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for DNAJB12-NEK5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNEK5Q6P3R8DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for DNAJB12-NEK5


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