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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:RPL39-UBE2K (FusionGDB2 ID:76818)

Fusion Gene Summary for RPL39-UBE2K

check button Fusion gene summary
Fusion gene informationFusion gene name: RPL39-UBE2K
Fusion gene ID: 76818
HgeneTgene
Gene symbol

RPL39

UBE2K

Gene ID

6170

3093

Gene nameribosomal protein L39ubiquitin conjugating enzyme E2 K
SynonymsL39|RPL39P42|RPL39_23_1806E2-25K|HIP2|HYPG|LIG|UBC1
Cytomap

Xq24

4p14

Type of geneprotein-codingprotein-coding
Description60S ribosomal protein L39large ribosomal subunit protein eL39ubiquitin-conjugating enzyme E2 KE2 ubiquitin-conjugating enzyme KE2(25K)HIP-2huntingtin-interacting protein 2ubiquitin carrier proteinubiquitin conjugating enzyme E2Kubiquitin-conjugating enzyme E2(25K)ubiquitin-conjugating enzyme E2-25 KDAubiqu
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000361575, ENST00000468844, 
ENST00000438068, ENST00000445950, 
ENST00000503368, ENST00000295963, 
ENST00000261427, 
Fusion gene scores* DoF score3 X 3 X 2=1817 X 12 X 8=1632
# samples 318
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(18/1632*10)=-3.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPL39 [Title/Abstract] AND UBE2K [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPL39(118923871)-UBE2K(39776454), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneRPL39

GO:0002181

cytoplasmic translation

25957688

HgeneRPL39

GO:0002227

innate immune response in mucosa

12860195

HgeneRPL39

GO:0019731

antibacterial humoral response

12860195

HgeneRPL39

GO:0050830

defense response to Gram-positive bacterium

12860195

HgeneRPL39

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

12860195

TgeneUBE2K

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

24882218

TgeneUBE2K

GO:0010994

free ubiquitin chain polymerization

24882218

TgeneUBE2K

GO:0070936

protein K48-linked ubiquitination

20061386


check buttonFusion gene breakpoints across RPL39 (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 UBE2K (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 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-HU-A4GT-01ARPL39chrX

118923871

-UBE2Kchr4

39776454

+


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Fusion Gene ORF analysis for RPL39-UBE2K

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-3UTRENST00000361575ENST00000438068RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5CDS-3UTRENST00000361575ENST00000445950RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5CDS-3UTRENST00000361575ENST00000503368RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5CDS-intronENST00000361575ENST00000295963RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5UTR-3CDSENST00000468844ENST00000261427RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5UTR-3UTRENST00000468844ENST00000438068RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5UTR-3UTRENST00000468844ENST00000445950RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5UTR-3UTRENST00000468844ENST00000503368RPL39chrX

118923871

-UBE2Kchr4

39776454

+
5UTR-intronENST00000468844ENST00000295963RPL39chrX

118923871

-UBE2Kchr4

39776454

+
In-frameENST00000361575ENST00000261427RPL39chrX

118923871

-UBE2Kchr4

39776454

+

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)
ENST00000361575RPL39chrX118923871-ENST00000261427UBE2Kchr439776454+483617449477142

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
ENST00000361575ENST00000261427RPL39chrX118923871-UBE2Kchr439776454+0.0180330720.981967

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Fusion Genomic Features for RPL39-UBE2K


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)
RPL39chrX118923870-UBE2Kchr439776453+1.20E-060.9999988
RPL39chrX118923870-UBE2Kchr439776453+1.20E-060.9999988

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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for RPL39-UBE2K


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/chrX:118923871/chr4:39776454)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneUBE2KchrX:118923871chr4:39776454ENST0000026142737160_20099201.0DomainUBA
TgeneUBE2KchrX:118923871chr4:39776454ENST0000044595036160_20099158.0DomainUBA
TgeneUBE2KchrX:118923871chr4:39776454ENST0000050336815160_20048150.0DomainUBA

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneUBE2KchrX:118923871chr4:39776454ENST00000261427374_15499201.0DomainUBC core
TgeneUBE2KchrX:118923871chr4:39776454ENST00000445950364_15499158.0DomainUBC core
TgeneUBE2KchrX:118923871chr4:39776454ENST00000503368154_15448150.0DomainUBC core


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Fusion Gene Sequence for RPL39-UBE2K


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.
>76818_76818_1_RPL39-UBE2K_RPL39_chrX_118923871_ENST00000361575_UBE2K_chr4_39776454_ENST00000261427_length(transcript)=4836nt_BP=174nt
CTTCCGCCAGCTTCCCTCCTCTTCCTTTCTCCGCCATCGTGGTGTGTTCTTGACTCCGCTGCTCGCCATGTCTTCTCACAAGACTTTCAG
GATTAAGCGATTCCTGGCCAAGAAACAAAAGCAAAATCGTCCCATTCCCCAGTGGATTCGGATGAAAACTGGAAATAAAATCAGGGCAGC
TGCAATGACTCTCCGCACGGTATTATTGTCATTGCAAGCACTATTGGCAGCTGCAGAGCCAGATGATCCACAGGATGCTGTAGTAGCAAA
TCAGTACAAACAAAATCCCGAAATGTTCAAACAGACAGCTCGACTTTGGGCACATGTGTATGCTGGAGCACCAGTTTCTAGTCCAGAATA
CACCAAAAAAATAGAAAACCTATGTGCTATGGGCTTTGATAGGAATGCAGTAATAGTGGCCTTGTCTTCAAAATCATGGGATGTAGAGAC
TGCAACAGAATTGCTTCTGAGTAACTGAGGCATAGAGAGCTGCTGATATAGTCAAGCTTGCCTCTTCTTGAGGAGCACCAACATCTGTTA
TTTTTAGGATTCTGCATAGATTTCTTTTAAACTGGCATTCTTGCCTAATGATGTTATCTAGGCACCATTGGAGACTGAAAAAAAAAAATC
CCTGCTCTGTAAATAAAGCTAATTAAACGTCTGTGTAAATTTAAAAAGGGGAAATACTTTAATTTTTTTTCTTAATAGTGTAAAAATTCC
CTGAGCTAAGCTAAAACCATGGAAGAAACATGCTACTTTAGTGTTTAGCAGTGTACCAAGACTAGCAAGAGTTTGCTTCAGGATTTTGTT
GAATAATTAAGATAATATTTTGAGTGTGTCAGGGCCATTCAAATTGTTGGTGTTGCATCACAGCTACCTTAACTGTTTTTAACATGGATC
CTCTGTGCCTGTGAATTTACTTGCATGCTTGTACTTGACTTCTTAGGATGGGTAGCTGAAAAGACCACCATTTTAAGCATTTGAGAATTC
TTAAATATGAAATTTATTCAGAATTGAAGATGGTGACCTATTCAGAGCCTTTTTGTCCTTGTCAACAGACTGGGACAGTGTCTGATTCCC
CCTTCACCCCCCCCACCCCCGCCTTGCCACACACAGCTAATATTCTAATGGTAAATTTCTCTGTATCAGGTGGGGAAATGTGCTGAAGGA
CAGTATGTATCCCTTGCTTCATTTTTAGGTCGTAGGTTTGGAATGTCTTGTCCCAGTTCTTCAAACACTCTTAAATTTTTCTTAAGTAAT
GTAAAAATGGAACTGCCAATTTTATTTCTCTTGCAAAAATAGTAAATACTTGATGTTACATTATTCCCAGGTTTAATGAAAGAACCCAAC
TTAGTTTTTCAGTGAATTTGACACCTATTTTTTAGTGATGAAATTTTTCTTTGAGAACTGGCAAGGATGCAGTCAGCTGTTTGCAGTTTT
TAGCCTGATTTTGGGGTCTATAGAGATTGCTTTATTGGATACTTCAAGTCATTCTTGCTTGCACTTCCCCTATTGACACATGAAAGCTGT
GTTGGTGTTTTATTGTACATACTTCAGATGCACATAGGAATAGAAGTGTGTTATAAATCTAGCTTTCTTTATGATGTTTCTGATAATACG
AGAATTGAAAACTTTACCTTCTCTTGTACATAGTCAGACTATTTGTATTAAATTTACATTTCATTCTAAGTTCAAAAGTTTGAAAATTAT
TAGTTTTGCAAGATCACACACTAATGTAACCATTTTATGAAGGTTGAAGTGGATTTATGCAGGCAGTTCTATATATAGAAATACAATTCT
TTTTAAATTTTTAGGACCAATACAAAATAACAAAAATGTAATGGAATCAGACTGAATTAAAGTAAGGCTGTATATTGAAAGTCATATTAT
AAAAGGTTTGCTTTCTTTAAGTGTTATTTATCTTAAATTATAATCGTTAAATGTTTGGAAGATAATTTTTGAATCATAACGTCAGCATAA
CTTCATTTGACTTCTCAATAATCTTGATACTAGAAGCAATAAAAGAACCATTATTAAATATATTGTAATGTTAAAGATGTGAAGGTTCTT
CCAAAAATTTGTAAGGCTTTCCTAATTAACAGTAAACTCTTATAGCTGATATTATTACATACTAAACACAAGTTGCTGTTTTTTCCCCAT
ATGTTTGCTTACGCATGTCTTTATACAATCACCTCTTTTTATTGCTGTAGTTTATTTTCTAAAGATGCCAAAGGAAACAAGATTTTTCTT
TATTTATTTTAAATACCTGAAACCTCGTACTTTATATTTTGAAGTAAGGTGGGATTGTGTGAAAATGTGGATGGTTTTTCTCCAGTGTTG
GTTAGAACTACTTTTTTTAAGTGGAGGGCAACTTGGTAGTATTAGTAGAATTTGGGTTTAAAAATATCAGACACATCTACCCAGTTTATT
TTTTGCCTGTATTATCAGGGTATATTTAATTGTCCTGTGGTTAAACAAAGGTGAGAGAGCTCAGAGGTTTCTAAAGGTCAAGCATTTTAC
ATATATACATACATACATGCTCTTGGAGGCAGCTATATCCTGCTTTGATTTTTATGCACATGAGCCCTATAGGGTTATATACTCATCTAA
CTACACTTCAGCATCCCCAGTGCCCAAGAAATTGGAAAGTACAATATTTGGTTTGAGACATTCTTCATAAAAGATTCTTTATTATAAAAA
TTTACCTCATTTACATTTAATGTGATGATCTTTTTTTTCCTTTCTGGTATATTTCCCACTGTACTGTTTGGTTTTTGTTATTCTCTTGTC
TGTGGGTAGATTTAGTTACCCAAACATAGAAACTAAAGCAATTGCTTTTTTCCTCTGGTCTTAAATATGTTTGGACAAAAAGACACTAAA
AGGTCAGGCCTAGGGGAAAAGTACCCTGGTGGAAATTATTTTTGTAATTCTTAATATTTTTGAGTTGGCTCCGTTTGTCAGTTTTAAAAG
CCTCAAAAATTATGTTAAAAAAAAAATCCAGTGAAATCCCATTTAGGGCAGGCCGATTTGTTAGAAGTCACTGATGCTCCAGTAGGCTTT
TGTTATAATCAGGCCTGTTTCCTGAGTATGTGCCTCTTTTAAAAGAAGAAATAATTAGCTGTATAGTATTTCAGTACTGATGAATGAATG
AATGAATGAATGGCAGTTAGTGGACCCAAATAAGTATTCAGTGGTATATAAATATTTGAGGAACTAGGTACTGAATTAGGTGCTCTGAGT
TGGCACCCCGAAATGTTTGGAATCACGACTATGATTTACTTAAACACGTAACACATTCAAGGATATATAAATGGAGTCTAAGTATTTTGC
TTTTGAAGAGAATAATCTATGAAATGGAAGACTTGATTTTTTTTTTCATTTTTTAGAAGTAATACACATTTATGATTGTTGGCACATAAA
ACTATGCAAAATAATTCTTTTTAAGTATCTGTAAGAAAGAATTGGCAGTTTAAACGGATTTTGCTTATTTATGCACTACAGAATGCAGCA
TACTGTATTACTGTTGAGGCTGCTTAATAAGTTTACCAATGTGAAAAGCAGATCTTGGGTATAAGTGTATGCCTGATTTGAGCTTTTAAA
ACTGTGCAGTAGGTGTATGGTAATGTTTTACAATCCTATGTAGCAAAATAGGAAATTATGAATTTTTGTTGTTATTGTTTTAAAGATTTA
AGATGGATTGGGGTAGGGAACAGCTGGAGCCAGGTATACCTTCTAGTATGTAGAGGGAAACAATGTTTAGATAGGAAAAAGGAAGCCGTC
TGTTTACAGTTAACTTTATTTCATGGACTTCTACAAAATGTTGTATTAATCACTTTTTCTAGTTCAAGGAATTTCAATTCCAGGGTACAA
ACCATTGATTTAAAAATTACGTTTCCATTCTTTTTAGTATCAGTTTAAAGTAAATGCTTACCATCAGCCAGTTGCTGTCACTGGGAAGAA
GGCAACTTGAAGTATTTACTGATAAAATAGCCTTTATTCCCAAGTGTGACTTTTCTTCAGTGTCTACATATTATGTCACACGTTCTATTT
GCACTGCTGCAATATAGATCAAAGATCTTGTGGCATAGGGGTAGGGGAGTGTTAGTATCTCCCTTGTCCCATTTGTTCTGTTACTGCTTC
ATTGGACTGATACACCCTCATGAACTTGCAATCACCTAAATGGAAGTCTTGAATGTGTCACCTTTTGCTTGGTTATTTCAACCATGCTGC
TATATATAATCAGGTGTGGCACAGTTTGTCAGTTTGATTATAGGTGTGAGTGGATAGAAATCATTACACTGTGCTGTTAACGATCCTTGT
CTGCTTGCTGTTACCTACTTTTTACAGGCATCATAATAAAAGCTAGACTATTTCTTTGGGGGGAAAGAGACTTATTTAATGTAATTTAAA
AAACTTTTCCAATAGAAAATGAAATATTATTGAAAATAATATCTATTTTTTAGCTTTCAGCAATTGATGGTGCTTTGTTGTGGTGTCTGC
TGGAAGTCTACTGCCATTATAGGGAACCTTGCTTGTTAGCTTCTCTAGATCTCTATTCTAAACAATCTGTTAGTGATGATAAATTCTGTA
GGAGGGTCTATTCTGAGCCGTTAACTTCCTGTAAGGGGAAAATGGGTGGGTTACCAGAAATACCATTGAAGCAGGGTGGGCTGTGGGGTG
GAAGGTTGGGGTATTTGTCTTGAGAATTAAAAACTACGAAACACTTTTGTACACAACTGATTTTTTAAAAAATAAACACATTTTTAAAGA

>76818_76818_1_RPL39-UBE2K_RPL39_chrX_118923871_ENST00000361575_UBE2K_chr4_39776454_ENST00000261427_length(amino acids)=142AA_BP=41
MTPLLAMSSHKTFRIKRFLAKKQKQNRPIPQWIRMKTGNKIRAAAMTLRTVLLSLQALLAAAEPDDPQDAVVANQYKQNPEMFKQTARLW

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Fusion Gene PPI Analysis for RPL39-UBE2K


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 RPL39-UBE2K


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

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Related Diseases for RPL39-UBE2K


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