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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:RBPJ-NKIRAS1 (FusionGDB2 ID:73077)

Fusion Gene Summary for RBPJ-NKIRAS1

check button Fusion gene summary
Fusion gene informationFusion gene name: RBPJ-NKIRAS1
Fusion gene ID: 73077
HgeneTgene
Gene symbol

RBPJ

NKIRAS1

Gene ID

3516

28512

Gene namerecombination signal binding protein for immunoglobulin kappa J regionNFKB inhibitor interacting Ras like 1
SynonymsAOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|cslKBRAS1|kappaB-Ras1
Cytomap

4p15.2

3p24.2

Type of geneprotein-codingprotein-coding
Descriptionrecombining 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 homologNF-kappa-B inhibitor-interacting Ras-like protein 1I-kappa-B-interacting Ras-like protein 1NFKB inhibitor interacting Ras-like protein 1kappa B-Ras protein 1kappa B-ras 1
Modification date2020032920200313
UniProtAcc.

Q9NYS0

Ensembl transtripts involved in fusion geneENST00000342295, ENST00000342320, 
ENST00000345843, ENST00000348160, 
ENST00000355476, ENST00000361572, 
ENST00000504907, ENST00000507561, 
ENST00000511401, 		ENST00000388759, 
ENST00000412028, ENST00000415901, 
ENST00000416026, ENST00000421515, 
ENST00000425478, ENST00000437230, 
ENST00000443659, 
Fusion gene scores* DoF score15 X 12 X 6=10804 X 4 X 2=32
# samples 164
** MAII scorelog2(16/1080*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RBPJ [Title/Abstract] AND NKIRAS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBPJ(26327964)-NKIRAS1(23932804), # 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
HgeneRBPJ

GO:0007221

positive regulation of transcription of Notch receptor target

21102556

HgeneRBPJ

GO:0045892

negative regulation of transcription, DNA-templated

10713164

HgeneRBPJ

GO:0061419

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

23303788


check buttonFusion gene breakpoints across RBPJ (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 NKIRAS1 (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/ABG272726RBPJchr4

26327964

+NKIRAS1chr3

23932804

-


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Fusion Gene ORF analysis for RBPJ-NKIRAS1

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-intronENST00000342295ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342295ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342295ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342295ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342295ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342295ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342295ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342295ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000342320ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000345843ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000348160ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000355476ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000361572ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000504907ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000507561ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000388759RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000412028RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000415901RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000416026RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000421515RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000425478RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000437230RBPJchr4

26327964

+NKIRAS1chr3

23932804

-
intron-intronENST00000511401ENST00000443659RBPJchr4

26327964

+NKIRAS1chr3

23932804

-

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 RBPJ-NKIRAS1


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 RBPJ-NKIRAS1


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/:26327964/:23932804)
- 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
.NKIRAS1

Q9NYS0

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: Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB. {ECO:0000269|PubMed:10657303, ECO:0000269|PubMed:12672800, ECO:0000269|PubMed:15024091}.

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 RBPJ-NKIRAS1


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 RBPJ-NKIRAS1


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 RBPJ-NKIRAS1


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 RBPJ-NKIRAS1


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