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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:CD59-RBPJ (FusionGDB2 ID:14610)

Fusion Gene Summary for CD59-RBPJ

check button Fusion gene summary
Fusion gene informationFusion gene name: CD59-RBPJ
Fusion gene ID: 14610
HgeneTgene
Gene symbol

CD59

RBPJ

Gene ID

966

3516

Gene nameCD59 molecule (CD59 blood group)recombination signal binding protein for immunoglobulin kappa J region
Synonyms16.3A5|1F5|EJ16|EJ30|EL32|G344|HRF-20|HRF20|MAC-IP|MACIF|MEM43|MIC11|MIN1|MIN2|MIN3|MIRL|MSK21|p18-20AOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl
Cytomap

11p13

4p15.2

Type of geneprotein-codingprotein-coding
DescriptionCD59 glycoprotein1F5 antigen20 kDa homologous restriction factorCD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)CD59 blood group antigenCD59 molecule, complement regulatory proteinLy-6-like proteinrecombining binding protein suppressor of hairlessCBF-1H-2K binding factor-2RBP-J kappaRBP-JKimmunoglobulin kappa J region recombination signal binding protein 1renal carcinoma antigen NY-REN-30suppressor of hairless homolog
Modification date2020031320200329
UniProtAcc

P13987

RITA1

Ensembl transtripts involved in fusion geneENST00000534312, ENST00000395850, 
ENST00000533403, ENST00000351554, 
ENST00000415002, ENST00000445143, 
ENST00000426650, ENST00000437761, 
ENST00000527577, ENST00000528700, 
ENST00000345843, ENST00000342295, 
ENST00000361572, ENST00000348160, 
ENST00000355476, ENST00000511401, 
ENST00000507561, ENST00000504907, 
ENST00000342320, 
Fusion gene scores* DoF score7 X 11 X 4=30813 X 11 X 7=1001
# samples 1113
** MAII scorelog2(11/308*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1001*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD59 [Title/Abstract] AND RBPJ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD59(33743973)-RBPJ(26432077), # 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
HgeneCD59

GO:0030449

regulation of complement activation

25284781

HgeneCD59

GO:1903659

regulation of complement-dependent cytotoxicity

25284781

TgeneRBPJ

GO:0007221

positive regulation of transcription of Notch receptor target

21102556

TgeneRBPJ

GO:0045892

negative regulation of transcription, DNA-templated

10713164

TgeneRBPJ

GO:0061419

positive regulation of transcription from RNA polymerase II promoter in response to hypoxia

23303788


check buttonFusion gene breakpoints across CD59 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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
ChiTaRS5.0N/ABF997054CD59chr11

33743973

+RBPJchr4

26432077

+


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Fusion Gene ORF analysis for CD59-RBPJ

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
intron-3CDSENST00000534312ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000534312ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000534312ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000534312ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000534312ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000534312ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000534312ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000534312ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000534312ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000395850ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000395850ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000395850ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000395850ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000395850ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000395850ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000395850ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000395850ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000395850ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000533403ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000533403ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000533403ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000533403ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000533403ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000533403ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000533403ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000533403ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000533403ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000351554ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000351554ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000351554ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000351554ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000351554ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000351554ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000351554ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000351554ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000351554ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000415002ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000415002ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000415002ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000415002ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000415002ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000415002ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000415002ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000415002ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000415002ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000445143ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000445143ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000445143ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000445143ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000445143ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000445143ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000445143ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000445143ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000445143ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000426650ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000426650ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000426650ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000426650ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000426650ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000426650ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000426650ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000426650ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000426650ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000437761ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000437761ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000437761ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000437761ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000437761ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000437761ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000437761ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000437761ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000437761ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000527577ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000527577ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000527577ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000527577ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000527577ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000527577ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000527577ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000527577ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000527577ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000528700ENST00000345843CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000528700ENST00000342295CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000528700ENST00000361572CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000528700ENST00000348160CD59chr11

33743973

+RBPJchr4

26432077

+
intron-3CDSENST00000528700ENST00000355476CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000528700ENST00000511401CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000528700ENST00000507561CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000528700ENST00000504907CD59chr11

33743973

+RBPJchr4

26432077

+
intron-intronENST00000528700ENST00000342320CD59chr11

33743973

+RBPJchr4

26432077

+

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)

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

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Fusion Genomic Features for CD59-RBPJ


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.

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.

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Fusion Protein Features for CD59-RBPJ


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD59

P13987

RBPJ

RITA1

FUNCTION: Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase.; FUNCTION: The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.269

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


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Fusion Gene Sequence for CD59-RBPJ


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.

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Fusion Gene PPI Analysis for CD59-RBPJ


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 CD59-RBPJ


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 CD59-RBPJ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD59C2676767CD59 Deficiency4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCD59C0024790Paroxysmal nocturnal hemoglobinuria1GENOMICS_ENGLAND
HgeneCD59C0272242Complement deficiency disease1GENOMICS_ENGLAND
HgeneCD59C1148551X-Linked Dyskeratosis Congenita1GENOMICS_ENGLAND
HgeneCD59C4727002Chronic Hemolysis1GENOMICS_ENGLAND
HgeneCD59C4755276Primary CD59 deficiency1GENOMICS_ENGLAND
TgeneRBPJC3553748ADAMS-OLIVER SYNDROME 33GENOMICS_ENGLAND;UNIPROT
TgeneRBPJC0003873Rheumatoid Arthritis2CTD_human
TgeneRBPJC4551482Adams-Oliver syndrome 12CTD_human;GENOMICS_ENGLAND
TgeneRBPJC0014175Endometriosis1CTD_human
TgeneRBPJC0026769Multiple Sclerosis1CTD_human
TgeneRBPJC0265268Adams Oliver syndrome1ORPHANET
TgeneRBPJC0269102Endometrioma1CTD_human
TgeneRBPJC0751324Multiple Sclerosis, Acute Fulminating1CTD_human