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Fusion gene ID: 24266 |
FusionGeneSummary for NFKB1_ITPKB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NFKB1_ITPKB | Fusion gene ID: 24266 | Hgene | Tgene | Gene symbol | NFKB1 | ITPKB | Gene ID | 4790 | 3707 |
| Gene name | nuclear factor kappa B subunit 1 | inositol-trisphosphate 3-kinase B | |
| Synonyms | CVID12|EBP-1|KBF1|NF-kB1|NF-kappa-B|NF-kappaB|NFKB-p105|NFKB-p50|NFkappaB|p105|p50 | IP3-3KB|IP3K|IP3K-B|IP3KB|PIG37 | |
| Cytomap | 4q24 | 1q42.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear factor NF-kappa-B p105 subunitDNA-binding factor KBF1NF-kappabetanuclear factor NF-kappa-B p50 subunitnuclear factor kappa-B DNA binding subunitnuclear factor of kappa light polypeptide gene enhancer in B-cells 1 | inositol-trisphosphate 3-kinase BIP3 3-kinase BIP3K Binositol 1,4,5-trisphosphate 3-kinase BinsP 3-kinase Bproliferation-inducing protein 37 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P19838 | P27987 | |
| Ensembl transtripts involved in fusion gene | ENST00000226574, ENST00000394820, ENST00000505458, ENST00000510638, ENST00000600343, | ENST00000272117, ENST00000429204, ENST00000366784, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 7 X 6 X 3=126 |
| # samples | 6 | 7 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NFKB1 [Title/Abstract] AND ITPKB [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 | NFKB1 | GO:0010629 | negative regulation of gene expression | 26687115 |
| Hgene | NFKB1 | GO:0010956 | negative regulation of calcidiol 1-monooxygenase activity | 15243130 |
| Hgene | NFKB1 | GO:0045893 | positive regulation of transcription, DNA-templated | 17426251 |
| Hgene | NFKB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 1406630 |
| Hgene | NFKB1 | GO:1900127 | positive regulation of hyaluronan biosynthetic process | 17324121 |
| Tgene | ITPKB | GO:0032957 | inositol trisphosphate metabolic process | 1654894 |
| Tgene | ITPKB | GO:0071277 | cellular response to calcium ion | 1654894 |
| 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 | AW965410 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| * 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 |
| 5CDS-3UTR | ENST00000226574 | ENST00000272117 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-3UTR | ENST00000226574 | ENST00000429204 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-intron | ENST00000226574 | ENST00000366784 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-3UTR | ENST00000394820 | ENST00000272117 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-3UTR | ENST00000394820 | ENST00000429204 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-intron | ENST00000394820 | ENST00000366784 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-3UTR | ENST00000505458 | ENST00000272117 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-3UTR | ENST00000505458 | ENST00000429204 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-intron | ENST00000505458 | ENST00000366784 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| intron-3UTR | ENST00000510638 | ENST00000272117 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| intron-3UTR | ENST00000510638 | ENST00000429204 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| intron-intron | ENST00000510638 | ENST00000366784 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-3UTR | ENST00000600343 | ENST00000272117 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-3UTR | ENST00000600343 | ENST00000429204 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
| 5CDS-intron | ENST00000600343 | ENST00000366784 | NFKB1 | chr4 | 103504106 | + | ITPKB | chr1 | 226819743 | - |
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FusionProtFeatures for NFKB1_ITPKB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NFKB1 | ITPKB |
| 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 and the heterodimericp65-p50 complex appears to be most abundant one. The dimers bindat kappa-B sites in the DNA of their target genes and theindividual dimers have distinct preferences for different kappa-Bsites that they can bind with distinguishable affinity andspecificity. Different dimer combinations act as transcriptionalactivators or repressors, respectively. NF-kappa-B is controlledby various mechanisms of post-translational modification andsubcellular compartmentalization as well as by interactions withother cofactors or corepressors. NF-kappa-B complexes are held inthe cytoplasm in an inactive state complexed with members of theNF-kappa-B inhibitor (I-kappa-B) family. In a conventionalactivation pathway, I-kappa-B is phosphorylated by I-kappa-Bkinases (IKKs) in response to different activators, subsequentlydegraded thus liberating the active NF-kappa-B complex whichtranslocates to the nucleus. NF-kappa-B heterodimeric p65-p50 andRelB-p50 complexes are transcriptional activators. The NF-kappa-Bp50-p50 homodimer is a transcriptional repressor, but can act as atranscriptional activator when associated with BCL3. NFKB1 appearsto have dual functions such as cytoplasmic retention of attachedNF-kappa-B proteins by p105 and generation of p50 by acotranslational processing. The proteasome-mediated processensures the production of both p50 and p105 and preserves theirindependent function, although processing of NFKB1/p105 alsoappears to occur post-translationally. p50 binds to the kappa-Bconsensus sequence 5'-GGRNNYYCC-3', located in the enhancer regionof genes involved in immune response and acute phase reactions. Ina complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPKsignaling; active MAP3K8 is released by proteasome-dependentdegradation of NFKB1/p105. {ECO:0000269|PubMed:15485931}. |
| 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 NFKB1_ITPKB |
| 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 NFKB1_ITPKB |
| 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 NFKB1_ITPKB |
| 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 |
| Hgene | NFKB1 | P19838 | DB01411 | Pranlukast | Nuclear factor NF-kappa-B p105 subunit | small molecule | approved|investigational |
| Hgene | NFKB1 | P19838 | DB08814 | Triflusal | Nuclear factor NF-kappa-B p105 subunit | small molecule | approved|investigational |
| Hgene | NFKB1 | P19838 | DB01041 | Thalidomide | Nuclear factor NF-kappa-B p105 subunit | small molecule | approved|investigational|withdrawn |
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RelatedDiseases for NFKB1_ITPKB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NFKB1 | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET |
| Hgene | NFKB1 | C0009375 | Colonic Neoplasms | 2 | CTD_human |
| Hgene | NFKB1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | NFKB1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | NFKB1 | C0007786 | Brain Ischemia | 1 | CTD_human |
| Hgene | NFKB1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | NFKB1 | C0018843 | Heat Stroke | 1 | CTD_human |
| Hgene | NFKB1 | C0020500 | Hyperoxaluria | 1 | CTD_human |
| Hgene | NFKB1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Hgene | NFKB1 | C0023892 | Biliary cirrhosis | 1 | CTD_human |
| Hgene | NFKB1 | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | NFKB1 | C0029927 | Ovarian Cysts | 1 | CTD_human |
| Hgene | NFKB1 | C0525045 | Mood Disorders | 1 | PSYGENET |
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