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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:IKBKB-DLD (FusionGDB2 ID:39364) |
Fusion Gene Summary for IKBKB-DLD |
Fusion gene summary |
Fusion gene information | Fusion gene name: IKBKB-DLD | Fusion gene ID: 39364 | Hgene | Tgene | Gene symbol | IKBKB | DLD | Gene ID | 3551 | 197257 |
Gene name | inhibitor of nuclear factor kappa B kinase subunit beta | lactate dehydrogenase D | |
Synonyms | IKK-beta|IKK2|IKKB|IMD15|IMD15A|IMD15B|NFKBIKB | DLACD|DLD | |
Cytomap | 8p11.21 | 16q23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | inhibitor of nuclear factor kappa-B kinase subunit betaI-kappa-B kinase 2I-kappa-B-kinase betainhibitor of kappa light polypeptide gene enhancer in B-cells, kinase betanuclear factor NF-kappa-B inhibitor kinase beta | probable D-lactate dehydrogenase, mitochondrialD-lactate dehydrogenase | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O14920 | P09622 | |
Ensembl transtripts involved in fusion gene | ENST00000379708, ENST00000416505, ENST00000518983, ENST00000519735, ENST00000520810, ENST00000520835, ENST00000522147, ENST00000522785, | ENST00000205402, ENST00000437604, ENST00000440410, ENST00000537148, ENST00000494441, | |
Fusion gene scores | * DoF score | 9 X 7 X 6=378 | 3 X 3 X 2=18 |
# samples | 13 | 3 | |
** MAII score | log2(13/378*10)=-1.53987461119262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: IKBKB [Title/Abstract] AND DLD [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | IKBKB(42181155)-DLD(107557773), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | IKBKB | GO:0006468 | protein phosphorylation | 15084260|20434986 |
Hgene | IKBKB | GO:0018105 | peptidyl-serine phosphorylation | 21399639 |
Hgene | IKBKB | GO:0042325 | regulation of phosphorylation | 26212789 |
Hgene | IKBKB | GO:0045944 | positive regulation of transcription by RNA polymerase II | 23091055|23453807 |
Hgene | IKBKB | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 15790681 |
Hgene | IKBKB | GO:0071356 | cellular response to tumor necrosis factor | 23091055 |
Fusion gene breakpoints across IKBKB (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across DLD (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS5.0 | N/A | CV348467 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
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Fusion Gene ORF analysis for IKBKB-DLD |
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 |
intron-3CDS | ENST00000379708 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000379708 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000379708 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000379708 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000416505 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000416505 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000416505 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000416505 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000518983 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000518983 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000518983 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000518983 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000519735 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000519735 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000519735 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000519735 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520810 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520810 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520810 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520810 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520835 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520835 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520835 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000520835 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522147 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522147 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522147 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522147 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522785 | ENST00000205402 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522785 | ENST00000437604 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522785 | ENST00000440410 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-3CDS | ENST00000522785 | ENST00000537148 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000379708 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000416505 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000518983 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000519735 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000520810 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000520835 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000522147 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
intron-intron | ENST00000522785 | ENST00000494441 | IKBKB | chr8 | 42181155 | - | DLD | chr7 | 107557773 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for IKBKB-DLD |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution 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. |
Distribution 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 IKBKB-DLD |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:42181155/:107557773) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
IKBKB | DLD |
FUNCTION: Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:30337470). Acts as part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signaling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE (PubMed:11297557, PubMed:20410276). IKK-related kinase phosphorylations may prevent the overproduction of inflammatory mediators since they exert a negative regulation on canonical IKKs. Phosphorylates FOXO3, mediating the TNF-dependent inactivation of this pro-apoptotic transcription factor (PubMed:15084260). Also phosphorylates other substrates including NCOA3, BCL10 and IRS1 (PubMed:17213322). Within the nucleus, acts as an adapter protein for NFKBIA degradation in UV-induced NF-kappa-B activation (PubMed:11297557). Phosphorylates RIPK1 at 'Ser-25' which represses its kinase activity and consequently prevents TNF-mediated RIPK1-dependent cell death (By similarity). Phosphorylates the C-terminus of IRF5, stimulating IRF5 homodimerization and translocation into the nucleus (PubMed:25326418). {ECO:0000250|UniProtKB:O88351, ECO:0000269|PubMed:11297557, ECO:0000269|PubMed:15084260, ECO:0000269|PubMed:17213322, ECO:0000269|PubMed:19716809, ECO:0000269|PubMed:20410276, ECO:0000269|PubMed:20434986, ECO:0000269|PubMed:20797629, ECO:0000269|PubMed:21138416, ECO:0000269|PubMed:25326418, ECO:0000269|PubMed:30337470}. | FUNCTION: Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity). {ECO:0000250|UniProtKB:Q811C4, ECO:0000269|PubMed:15712224, ECO:0000269|PubMed:16442803, ECO:0000269|PubMed:16770810, ECO:0000269|PubMed:17404228, ECO:0000269|PubMed:20160912, ECO:0000269|PubMed:20385101, ECO:0000269|PubMed:29211711}. |
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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Fusion Gene Sequence for IKBKB-DLD |
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 IKBKB-DLD |
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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Related Drugs for IKBKB-DLD |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for IKBKB-DLD |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |