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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24270

FusionGeneSummary for NFKB2_GBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: NFKB2_GBF1
Fusion gene ID: 24270
HgeneTgene
Gene symbol

NFKB2

GBF1

Gene ID

4791

80142

Gene namenuclear factor kappa B subunit 2prostaglandin E synthase 2
SynonymsCVID10|H2TF1|LYT-10|LYT10|NF-kB2|p100|p49/p100|p52C9orf15|GBF-1|GBF1|PGES2|mPGES-2
Cytomap

10q24.32

9q34.11

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 prostaglandin E synthase 2GATE-binding factor 1gamma-interferon-activated transcriptional element-binding factor 1mPGE synthase-2membrane-associated prostaglandin E synthase 2microsomal prostaglandin E synthase-2prostaglandin-H(2) E-isomerase
Modification date2018051920180519
UniProtAcc

Q00653

Q92538

Ensembl transtripts involved in fusion geneENST00000428099, ENST00000369966, 
ENST00000189444, ENST00000336486, 
ENST00000369983, ENST00000476019, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 8 X 5=360
# samples 112
** MAII scorelog2(1/1*10)=3.32192809488736log2(12/360*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NFKB2 [Title/Abstract] AND GBF1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-E2-A1LE-01ANFKB2chr10

104156246

+GBF1chr10

104128496

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000428099ENST00000369983NFKB2chr10

104156246

+GBF1chr10

104128496

+
5CDS-intronENST00000428099ENST00000476019NFKB2chr10

104156246

+GBF1chr10

104128496

+
Frame-shitENST00000369966ENST00000369983NFKB2chr10

104156246

+GBF1chr10

104128496

+
5CDS-intronENST00000369966ENST00000476019NFKB2chr10

104156246

+GBF1chr10

104128496

+
Frame-shitENST00000189444ENST00000369983NFKB2chr10

104156246

+GBF1chr10

104128496

+
5CDS-intronENST00000189444ENST00000476019NFKB2chr10

104156246

+GBF1chr10

104128496

+
intron-3CDSENST00000336486ENST00000369983NFKB2chr10

104156246

+GBF1chr10

104128496

+
intron-intronENST00000336486ENST00000476019NFKB2chr10

104156246

+GBF1chr10

104128496

+

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FusionProtFeatures for NFKB2_GBF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NFKB2

Q00653

GBF1

Q92538

NF-kappa-B is a pleiotropic transcription factor presentin almost all cell types and is the endpoint of a series of signaltransduction events that are initiated by a vast array of stimulirelated to many biological processes such as inflammation,immunity, differentiation, cell growth, tumorigenesis andapoptosis. NF-kappa-B is a homo- or heterodimeric complex formedby the Rel-like domain-containing proteins RELA/p65, RELB,NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind atkappa-B sites in the DNA of their target genes and the individualdimers have distinct preferences for different kappa-B sites thatthey can bind with distinguishable affinity and specificity.Different dimer combinations act as transcriptional activators orrepressors, respectively. NF-kappa-B is controlled by variousmechanisms of post-translational modification and subcellularcompartmentalization as well as by interactions with othercofactors or corepressors. NF-kappa-B complexes are held in thecytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activationpathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs)in response to different activators, subsequently degraded thusliberating the active NF-kappa-B complex which translocates to thenucleus. In a non-canonical activation pathway, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associatedwith RelB, inducing its proteolytic processing to NFKB2/p52 andthe formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-Bheterodimeric RelB-p52 complex is a transcriptional activator. TheNF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2appears to have dual functions such as cytoplasmic retention ofattached NF-kappa-B proteins by p100 and generation of p52 by acotranslational processing. The proteasome-mediated processensures the production of both p52 and p100 and preserves theirindependent function. p52 binds to the kappa-B consensus sequence5'-GGRNNYYCC-3', located in the enhancer region of genes involvedin immune response and acute phase reactions. p52 and p100 arerespectively the minor and major form; the processing of p100being relatively poor. Isoform p49 is a subunit of the NF-kappa-Bprotein complex, which stimulates the HIV enhancer in synergy withp65. In concert with RELB, regulates the circadian clock byrepressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. {ECO:0000269|PubMed:7925301}. Guanine-nucleotide exchange factor (GEF) for members ofthe Arf family of small GTPases involved in trafficking in theearly secretory pathway; its GEF activity initiates the coating ofnascent vesicles via the localized generation of activated ARFsthrough replacement of GDP with GTP. Recruitment to cis-Golgimembranes requires membrane association of Arf-GDP and can beregulated by ARF1, ARF3, ARF4 and ARF5. Involved in therecruitment of the COPI coat complex to the endoplasmic reticulumexit sites (ERES), and the endoplasmic reticulum-Golgiintermediate (ERGIC) and cis-Golgi compartments which implicatesARF1 activation. Involved in COPI vesicle-dependent retrogradetransport from the ERGIC and cis-Golgi compartments to theendoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946,PubMed:18003980, PubMed:12047556, PubMed:12808027,PubMed:19039328, PubMed:24213530). Involved in the trans-Golginetwork recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1adaptor protein complex related to chlathrin-dependent transport;the function requires its GEF activity (probably at least in parton ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1(PubMed:15616190). Has in vitro GEF activity towards ARF5 (Bysimilarity). Involved in the processing of PSAP (PubMed:17666033).Required for the assembly of the Golgi apparatus (PubMed:12808027,PubMed:18003980). The AMPK-phosphorylated form is involved inGolgi disassembly during mitotis and under stress conditions(PubMed:18063581, PubMed:23418352). May be involved in the COPIvesicle-dependent recruitment of PNPLA2 to lipid droplets;however, this function is under debate (PubMed:19461073,PubMed:22185782). In neutrophils, involved in G protein-coupledreceptor (GPCR)-mediated chemotaxis und superoxide production.Proposed to be recruited by phosphatidylinositol-phosphatesgenerated upon GPCR stimulation to the leading edge where itrecruits and activates ARF1, and is involved in recruitment ofGIT2 and the NADPH oxidase complex (PubMed:22573891).{ECO:0000250|UniProtKB:Q9R1D7, ECO:0000269|PubMed:12047556,ECO:0000269|PubMed:12808027, ECO:0000269|PubMed:15616190,ECO:0000269|PubMed:16926190, ECO:0000269|PubMed:17666033,ECO:0000269|PubMed:17956946, ECO:0000269|PubMed:18003980,ECO:0000269|PubMed:18063581, ECO:0000269|PubMed:19461073,ECO:0000269|PubMed:22185782, ECO:0000269|PubMed:22573891,ECO:0000269|PubMed:23386609, ECO:0000269|PubMed:23418352,ECO:0000269|PubMed:24213530, ECO:0000305|PubMed:19039328,ECO:0000305|PubMed:22573891}.

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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FusionGeneSequence for NFKB2_GBF1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NFKB2_GBF1


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
NFKB2MAP3K8, NFKB1, FBXW7, REL, SEC16A, RELA, USP2, DDX3X, GLG1, NFKB2, RELB, RPL30, RPL6, RPS13, BCL3, IKBKG, TNIP2, TBK1, MEN1, SP1, NR3C1, NFKBIE, MAP3K14, BTRC, NKRF, TSC22D3, CHUK, NFKBIZ, PSMD11, DPF2, TSG101, COMMD1, COMMD2, FBXW11, VCP, BIRC2, EPS8, TNFAIP3, MOV10, NXF1, STAT3, NFKBIA, DEF6, NFKBIB, XPO1, KLC3, NFKBID, PADI3, ASB2, HIF1AN, ALOX5GBF1YWHAG, COPG1, KBTBD7, VCP, HDAC6, EGFR, PNPLA2, YWHAB, BIRC6, EPS15L1, NUP85, PLEC, CCAR2, NCAPH, RABL6, IRS4, IVNS1ABP, FBXW11, BTRC, SPACA1, PNKD, LYPD3, KIF4A, PUS7, RBM26, VARS, NTRK1, SRPK2, FBXO7, ZSCAN26, FOXB1, FOXG1, FOXI2, FOXL1, CDC73, TMEM206, CHRM3, GML, MILR1, DLK2, NPY2R, EPHA1, UBC


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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RelatedDrugs for NFKB2_GBF1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneNFKB2Q00653DB01296GlucosamineNuclear factor NF-kappa-B p100 subunitsmall moleculeapproved|investigational
HgeneNFKB2Q00653DB00945Acetylsalicylic acidNuclear factor NF-kappa-B p100 subunitsmall moleculeapproved|vet_approved

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RelatedDiseases for NFKB2_GBF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFKB2C0018843Heat Stroke1CTD_human
HgeneNFKB2C0079773Lymphoma, T-Cell, Cutaneous1CTD_human