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Fusion gene ID: 26764 |
FusionGeneSummary for PFKL_NFKB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PFKL_NFKB2 | Fusion gene ID: 26764 | Hgene | Tgene | Gene symbol | PFKL | NFKB2 | Gene ID | 5211 | 4791 |
| Gene name | phosphofructokinase, liver type | nuclear factor kappa B subunit 2 | |
| Synonyms | ATP-PFK|PFK-B|PFK-L | CVID10|H2TF1|LYT-10|LYT10|NF-kB2|p100|p49/p100|p52 | |
| Cytomap | 21q22.3 | 10q24.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ATP-dependent 6-phosphofructokinase, liver type6-phosphofructokinase type B6-phosphofructokinase, liver typeliver-type 1-phosphofructokinasephosphofructo-1-kinase isozyme Bphosphohexokinase | nuclear 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 date | 20180523 | 20180519 | |
| UniProtAcc | P17858 | Q00653 | |
| Ensembl transtripts involved in fusion gene | ENST00000349048, ENST00000403390, ENST00000496824, | ENST00000428099, ENST00000369966, ENST00000189444, ENST00000336486, | |
| Fusion gene scores | * DoF score | 3 X 5 X 3=45 | 2 X 2 X 1=4 |
| # samples | 5 | 2 | |
| ** MAII score | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | PFKL | GO:0006002 | fructose 6-phosphate metabolic process | 6444532|6444721 |
| Hgene | PFKL | GO:0006096 | glycolytic process | 6227635|6444532|22923583 |
| Hgene | PFKL | GO:0009749 | response to glucose | 22923583 |
| Hgene | PFKL | GO:0030388 | fructose 1,6-bisphosphate metabolic process | 22923583 |
| Hgene | PFKL | GO:0051259 | protein complex oligomerization | 6444721 |
| Tgene | NFKB2 | GO:0006355 | regulation of transcription, DNA-templated | 8360178 |
| Tgene | NFKB2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12835724 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | DB010470 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000349048 | ENST00000428099 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| Frame-shift | ENST00000349048 | ENST00000369966 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| Frame-shift | ENST00000349048 | ENST00000189444 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| 5CDS-intron | ENST00000349048 | ENST00000336486 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| Frame-shift | ENST00000403390 | ENST00000428099 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| Frame-shift | ENST00000403390 | ENST00000369966 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| Frame-shift | ENST00000403390 | ENST00000189444 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| 5CDS-intron | ENST00000403390 | ENST00000336486 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| 3UTR-3CDS | ENST00000496824 | ENST00000428099 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| 3UTR-3CDS | ENST00000496824 | ENST00000369966 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| 3UTR-3CDS | ENST00000496824 | ENST00000189444 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
| 3UTR-intron | ENST00000496824 | ENST00000336486 | PFKL | chr21 | 45732023 | + | NFKB2 | chr10 | 104156504 | + |
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FusionProtFeatures for PFKL_NFKB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PFKL | NFKB2 |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PFKL_NFKB2 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PFKL_NFKB2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | NFKB2 | Q00653 | DB01296 | Glucosamine | Nuclear factor NF-kappa-B p100 subunit | small molecule | approved|investigational |
| Tgene | NFKB2 | Q00653 | DB00945 | Acetylsalicylic acid | Nuclear factor NF-kappa-B p100 subunit | small molecule | approved|vet_approved |
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RelatedDiseases for PFKL_NFKB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PFKL | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Hgene | PFKL | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | NFKB2 | C0018843 | Heat Stroke | 1 | CTD_human |
| Tgene | NFKB2 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
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