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Fusion gene ID: 17322 |
FusionGeneSummary for IKBKE_ACSM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IKBKE_ACSM1 | Fusion gene ID: 17322 | Hgene | Tgene | Gene symbol | IKBKE | ACSM1 | Gene ID | 9641 | 116285 |
| Gene name | inhibitor of nuclear factor kappa B kinase subunit epsilon | acyl-CoA synthetase medium chain family member 1 | |
| Synonyms | IKK-E|IKK-i|IKKE|IKKI | BUCS1|MACS1 | |
| Cytomap | 1q32.1 | 16p12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | inhibitor of nuclear factor kappa-B kinase subunit epsilonI-kappa-B kinase epsilonIKK-epsilonIKK-related kinase epsiloninducible I kappa-B kinaseinducible IkappaB kinaseinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon | acyl-coenzyme A synthetase ACSM1, mitochondrialButyrate CoA ligasebutyrate--CoA ligase 1butyryl Coenzyme A synthetase 1butyryl-coenzyme A synthetase 1lipoate-activating enzymemedium-chain acyl-CoA synthetasemiddle-chain acyl-CoA synthetase 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q14164 | Q08AH1 | |
| Ensembl transtripts involved in fusion gene | ENST00000367120, ENST00000537984, ENST00000463979, | ENST00000219151, ENST00000307493, ENST00000520010, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 5 X 5 X 4=100 |
| # samples | 2 | 5 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IKBKE [Title/Abstract] AND ACSM1 [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 | IKBKE | GO:0006468 | protein phosphorylation | 10882136|20188669|24882218 |
| Hgene | IKBKE | GO:0051260 | protein homooligomerization | 24882218 |
| 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 |
| TCGA | RV | KIRC | TCGA-BP-4787-01A | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| * 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-5UTR | ENST00000367120 | ENST00000219151 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| 5CDS-5UTR | ENST00000367120 | ENST00000307493 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| 5CDS-5UTR | ENST00000367120 | ENST00000520010 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| 5CDS-5UTR | ENST00000537984 | ENST00000219151 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| 5CDS-5UTR | ENST00000537984 | ENST00000307493 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| 5CDS-5UTR | ENST00000537984 | ENST00000520010 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| intron-5UTR | ENST00000463979 | ENST00000219151 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| intron-5UTR | ENST00000463979 | ENST00000307493 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
| intron-5UTR | ENST00000463979 | ENST00000520010 | IKBKE | chr1 | 206667324 | + | ACSM1 | chr16 | 20651906 | - |
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FusionProtFeatures for IKBKE_ACSM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IKBKE | ACSM1 |
| Serine/threonine kinase that plays an essential role inregulating inflammatory responses to viral infection, through theactivation of the type I IFN, NF-kappa-B and STAT signaling. Alsoinvolved in TNFA and inflammatory cytokines, like Interleukin-1,signaling. Following activation of viral RNA sensors, such as RIG-I-like receptors, associates with DDX3X and phosphorylatesinterferon regulatory factors (IRFs), IRF3 and IRF7, as well asDDX3X. This activity allows subsequent homodimerization andnuclear translocation of the IRF3 leading to transcriptionalactivation of pro-inflammatory and antiviral genes including IFNB.In order to establish such an antiviral state, IKBKE forms severaldifferent complexes whose composition depends on the type of celland cellular stimuli. Thus, several scaffolding moleculesincluding IPS1/MAVS, TANK, AZI2/NAP1 or TBKBP1/SINTBAD can berecruited to the IKBKE-containing-complexes. Activated bypolyubiquitination in response to TNFA and interleukin-1,regulates the NF-kappa-B signaling pathway through, at least, thephosphorylation of CYLD. Phosphorylates inhibitors of NF-kappa-Bthus leading to the dissociation of the inhibitor/NF-kappa-Bcomplex and ultimately the degradation of the inhibitor. Inaddition, is also required for the induction of a subset of ISGswhich displays antiviral activity, may be through thephosphorylation of STAT1 at 'Ser-708'. Phosphorylation of STAT1 at'Ser-708' seems also to promote the assembly and DNA binding ofISGF3 (STAT1:STAT2:IRF9) complexes compared to GAF (STAT1:STAT1)complexes, in this way regulating the balance between type I andtype II IFN responses. Protects cells against DNA damage-inducedcell death. Also plays an important role in energy balanceregulation by sustaining a state of chronic, low-gradeinflammation in obesity, wich leads to a negative impact oninsulin sensitivity. Phosphorylates AKT1.{ECO:0000269|PubMed:17568778, ECO:0000269|PubMed:18583960,ECO:0000269|PubMed:19153231, ECO:0000269|PubMed:20188669,ECO:0000269|PubMed:21138416, ECO:0000269|PubMed:21464307,ECO:0000269|PubMed:22532683, ECO:0000269|PubMed:23453969,ECO:0000269|PubMed:23478265}. | Has medium-chain fatty acid:CoA ligase activity withbroad substrate specificity (in vitro). Acts on acids from C(4) toC(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). Functions as GTP-dependent lipoate-activating enzyme that generates the substrate forlipoyltransferase (By similarity). {ECO:0000250}. |
| 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 IKBKE_ACSM1 |
| 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 IKBKE_ACSM1 |
| 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 |
| IKBKE | ROCK2, CLTC, LRPPRC, DSTYK, EPRS, IMPDH2, MYH10, PABPC1, ACLY, ATIC, VCP, PLS3, PPP2R1A, RUVBL2, LARS, PSMA7, PDIA6, SND1, HYOU1, CDC37, FKBP5, HSP90AA2P, KTN1, TANK, CYLD, IRF3, RELA, CALCOCO2, MAVS, AZI2, TBKBP1, TBK1, TNIP1, TAX1BP1, TNFAIP3, IKBKG, CHUK, IKBKB, MBP, XIAP, TOPORS, PML, TRIM27, TRAF3, TRAF2, NFKBIA, RNF11, DDX3X, HSP90AA1, MYD88, IKBKE, BIRC2, BIRC3, TRAF3IP2, MAFB, DDX58, NMRAL1, TRIM6, UBC, CD209, APPBP2, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT8, TCP1, IFIT3, ESR1, TRAF6 | ACSM1 | APBA3, SLC22A16, GBP5, PRC1 |
| - 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 IKBKE_ACSM1 |
| 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 |
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RelatedDiseases for IKBKE_ACSM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IKBKE | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | IKBKE | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | ACSM1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | ACSM1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | ACSM1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | ACSM1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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