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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:NFKB2-TBXAS1 (FusionGDB2 ID:58977)

Fusion Gene Summary for NFKB2-TBXAS1

check button Fusion gene summary
Fusion gene informationFusion gene name: NFKB2-TBXAS1
Fusion gene ID: 58977
HgeneTgene
Gene symbol

NFKB2

TBXAS1

Gene ID

4791

6916

Gene namenuclear factor kappa B subunit 2thromboxane A synthase 1
SynonymsCVID10|H2TF1|LYT-10|LYT10|NF-kB2|p100|p49/p100|p52BDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS
Cytomap

10q24.32

7q34

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor NF-kappa-B p100 subunitDNA-binding factor KBF2NFKB, p52/p100 subunitlymphocyte translocation chromosome 10 proteinnuclear factor Kappa-B, subunit 2nuclear factor NF-kappa-B p52 subunitnuclear factor of Kappa light chain gene enhancer thromboxane-A synthaseTXA synthasecytochrome P450 5A1cytochrome P450, family 5, subfamily A, polypeptide 1platelet, cytochrome P450, subfamily Vthromboxane A synthase 1 (platelet)
Modification date2020031320200327
UniProtAcc

Q00653

.
Ensembl transtripts involved in fusion geneENST00000336486, ENST00000189444, 
ENST00000369966, ENST00000428099, 
ENST00000263552, ENST00000336425, 
ENST00000411653, ENST00000414508, 
ENST00000416849, ENST00000425687, 
ENST00000436047, ENST00000448866, 
ENST00000455353, ENST00000458722, 
ENST00000462275, ENST00000539806, 
Fusion gene scores* DoF score2 X 2 X 2=810 X 12 X 5=600
# samples 212
** MAII scorelog2(2/8*10)=1.32192809488736log2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NFKB2 [Title/Abstract] AND TBXAS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
Anticipated loss of major functional domain due to fusion event.NFKB2-TBXAS1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NFKB2-TBXAS1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NFKB2-TBXAS1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
NFKB2-TBXAS1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
NFKB2-TBXAS1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted 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
HgeneNFKB2

GO:0006355

regulation of transcription, DNA-templated

8360178

HgeneNFKB2

GO:0045944

positive regulation of transcription by RNA polymerase II

12835724


check buttonFusion gene breakpoints across NFKB2 (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 TBXAS1 (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
ChimerKB3..NFKB2chr10

104159254

+TBXAS1chr7

139611023

+


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Fusion Gene ORF analysis for NFKB2-TBXAS1

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
3UTR-3CDSENST00000336486ENST00000263552NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000336425NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000411653NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000414508NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000416849NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000425687NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000436047NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000448866NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000455353NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3CDSENST00000336486ENST00000458722NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3UTRENST00000336486ENST00000462275NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
3UTR-3UTRENST00000336486ENST00000539806NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
5CDS-3UTRENST00000189444ENST00000462275NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
5CDS-3UTRENST00000189444ENST00000539806NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
5CDS-3UTRENST00000369966ENST00000462275NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
5CDS-3UTRENST00000369966ENST00000539806NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
5CDS-3UTRENST00000428099ENST00000462275NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
5CDS-3UTRENST00000428099ENST00000539806NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000263552NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000336425NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000411653NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000414508NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000416849NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000425687NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000436047NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000448866NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000455353NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000189444ENST00000458722NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000263552NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000336425NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000411653NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000414508NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000416849NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000425687NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000436047NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000448866NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000455353NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000369966ENST00000458722NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000263552NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000336425NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000411653NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000414508NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000416849NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000425687NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000436047NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000448866NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000455353NFKB2chr10

104159254

+TBXAS1chr7

139611023

+
Frame-shiftENST00000428099ENST00000458722NFKB2chr10

104159254

+TBXAS1chr7

139611023

+

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 NFKB2-TBXAS1


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 NFKB2-TBXAS1


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/:/:)
- 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
NFKB2

Q00653

.
FUNCTION: NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Isoform p49 is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. In concert with RELB, regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. {ECO:0000269|PubMed:7925301}.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

- 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 NFKB2-TBXAS1


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 NFKB2-TBXAS1


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 NFKB2-TBXAS1


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 NFKB2-TBXAS1


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