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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: 26764

FusionGeneSummary for PFKL_NFKB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PFKL_NFKB2
Fusion gene ID: 26764
HgeneTgene
Gene symbol

PFKL

NFKB2

Gene ID

5211

4791

Gene namephosphofructokinase, liver typenuclear factor kappa B subunit 2
SynonymsATP-PFK|PFK-B|PFK-LCVID10|H2TF1|LYT-10|LYT10|NF-kB2|p100|p49/p100|p52
Cytomap

21q22.3

10q24.32

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent 6-phosphofructokinase, liver type6-phosphofructokinase type B6-phosphofructokinase, liver typeliver-type 1-phosphofructokinasephosphofructo-1-kinase isozyme Bphosphohexokinasenuclear 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
Modification date2018052320180519
UniProtAcc

P17858

Q00653

Ensembl transtripts involved in fusion geneENST00000349048, ENST00000403390, 
ENST00000496824, 
ENST00000428099, 
ENST00000369966, ENST00000189444, 
ENST00000336486, 
Fusion gene scores* DoF score3 X 5 X 3=452 X 2 X 1=4
# samples 52
** MAII scorelog2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: PFKL [Title/Abstract] AND NFKB2 [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
HgenePFKL

GO:0006002

fructose 6-phosphate metabolic process

6444532|6444721

HgenePFKL

GO:0006096

glycolytic process

6227635|6444532|22923583

HgenePFKL

GO:0009749

response to glucose

22923583

HgenePFKL

GO:0030388

fructose 1,6-bisphosphate metabolic process

22923583

HgenePFKL

GO:0051259

protein complex oligomerization

6444721

TgeneNFKB2

GO:0006355

regulation of transcription, DNA-templated

8360178

TgeneNFKB2

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
ChiTaRS3.1DB010470PFKLchr21

45732023

+NFKB2chr10

104156504

+
* 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-shitENST00000349048ENST00000428099PFKLchr21

45732023

+NFKB2chr10

104156504

+
Frame-shitENST00000349048ENST00000369966PFKLchr21

45732023

+NFKB2chr10

104156504

+
Frame-shitENST00000349048ENST00000189444PFKLchr21

45732023

+NFKB2chr10

104156504

+
5CDS-intronENST00000349048ENST00000336486PFKLchr21

45732023

+NFKB2chr10

104156504

+
Frame-shitENST00000403390ENST00000428099PFKLchr21

45732023

+NFKB2chr10

104156504

+
Frame-shitENST00000403390ENST00000369966PFKLchr21

45732023

+NFKB2chr10

104156504

+
Frame-shitENST00000403390ENST00000189444PFKLchr21

45732023

+NFKB2chr10

104156504

+
5CDS-intronENST00000403390ENST00000336486PFKLchr21

45732023

+NFKB2chr10

104156504

+
3UTR-3CDSENST00000496824ENST00000428099PFKLchr21

45732023

+NFKB2chr10

104156504

+
3UTR-3CDSENST00000496824ENST00000369966PFKLchr21

45732023

+NFKB2chr10

104156504

+
3UTR-3CDSENST00000496824ENST00000189444PFKLchr21

45732023

+NFKB2chr10

104156504

+
3UTR-intronENST00000496824ENST00000336486PFKLchr21

45732023

+NFKB2chr10

104156504

+

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FusionProtFeatures for PFKL_NFKB2


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

P17858

NFKB2

Q00653

Catalyzes the phosphorylation of D-fructose 6-phosphateto fructose 1,6-bisphosphate by ATP, the first committing step ofglycolysis (PubMed:22923583). Negatively regulates the phagocyteoxidative burst in response to bacterial infection by controllingcellular NADPH biosynthesis and NADPH oxidase-derived reactiveoxygen species. Upon macrophage activation, drives the metabolicswitch toward glycolysis, thus preventing glucose turnover thatproduces NADPH via pentose phosphate pathway (By similarity).{ECO:0000250|UniProtKB:P12382, ECO:0000255|HAMAP-Rule:MF_03184,ECO:0000269|PubMed:22923583}. 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}.

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 PFKL_NFKB2


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 PFKL_NFKB2


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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RelatedDrugs for PFKL_NFKB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNFKB2Q00653DB01296GlucosamineNuclear factor NF-kappa-B p100 subunitsmall moleculeapproved|investigational
TgeneNFKB2Q00653DB00945Acetylsalicylic acidNuclear factor NF-kappa-B p100 subunitsmall moleculeapproved|vet_approved

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RelatedDiseases for PFKL_NFKB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePFKLC0005586Bipolar Disorder5PSYGENET
HgenePFKLC0525045Mood Disorders1PSYGENET
TgeneNFKB2C0018843Heat Stroke1CTD_human
TgeneNFKB2C0079773Lymphoma, T-Cell, Cutaneous1CTD_human