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Fusion gene ID: 24243 |
FusionGeneSummary for NFIL3_AUH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NFIL3_AUH | Fusion gene ID: 24243 | Hgene | Tgene | Gene symbol | NFIL3 | AUH | Gene ID | 4783 | 549 |
| Gene name | nuclear factor, interleukin 3 regulated | AU RNA binding methylglutaconyl-CoA hydratase | |
| Synonyms | E4BP4|IL3BP1|NF-IL3A|NFIL3A | - | |
| Cytomap | 9q22.31 | 9q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear factor interleukin-3-regulated proteinE4 promoter-binding protein 4interleukin-3 promoter transcriptional activatorinterleukin-3-binding protein 1transcriptional activator NF-IL3A | methylglutaconyl-CoA hydratase, mitochondrial3-methylglutaconyl-CoA hydrataseAU RNA binding protein/enoyl-CoA hydrataseAU RNA-binding protein/enoyl-Coenzyme A hydrataseAU-binding protein/Enoyl-CoA hydrataseAU-specific RNA-binding enoyl-CoA hydratase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q16649 | Q13825 | |
| Ensembl transtripts involved in fusion gene | ENST00000297689, | ENST00000303617, ENST00000375731, ENST00000422391, ENST00000478465, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 4 X 4=80 |
| # samples | 1 | 5 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NFIL3 [Title/Abstract] AND AUH [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 |
| 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 | LD | SARC | TCGA-HB-A3YV-01A | NFIL3 | chr9 | 94185922 | - | AUH | chr9 | 93983274 | - |
| * 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 |
| 5UTR-3CDS | ENST00000297689 | ENST00000303617 | NFIL3 | chr9 | 94185922 | - | AUH | chr9 | 93983274 | - |
| 5UTR-3CDS | ENST00000297689 | ENST00000375731 | NFIL3 | chr9 | 94185922 | - | AUH | chr9 | 93983274 | - |
| 5UTR-intron | ENST00000297689 | ENST00000422391 | NFIL3 | chr9 | 94185922 | - | AUH | chr9 | 93983274 | - |
| 5UTR-intron | ENST00000297689 | ENST00000478465 | NFIL3 | chr9 | 94185922 | - | AUH | chr9 | 93983274 | - |
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FusionProtFeatures for NFIL3_AUH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NFIL3 | AUH |
| Acts as a transcriptional regulator that recognizes andbinds to the sequence 5'-[GA]TTA[CT]GTAA[CT]-3', a sequencepresent in many cellular and viral promoters. Repressestranscription from promoters with activating transcription factor(ATF) sites. Represses promoter activity in osteoblasts (Bysimilarity). Represses transcriptional activity of PER1 (Bysimilarity). Represses transcriptional activity of PER2 via the B-site on the promoter (By similarity). Activates transcription fromthe interleukin-3 promoter in T-cells. Competes for the sameconsensus-binding site with PAR DNA-binding factors (DBP, HLF andTEF) (By similarity). Component of the circadian clock that actsas a negative regulator for the circadian expression of PER2oscillation in the cell-autonomous core clock (By similarity).Protects pro-B cells from programmed cell death (By similarity).{ECO:0000250, ECO:0000269|PubMed:1620116,ECO:0000269|PubMed:7565758, ECO:0000269|PubMed:8836190}. | Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311,PubMed:12655555). Also has itaconyl-CoA hydratase activity byconverting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxifyitaconate, a vitamin B12-poisoning metabolite (PubMed:29056341).Has very low enoyl-CoA hydratase activity (PubMed:7892223). Wasoriginally identified as RNA-binding protein that binds in vitroto clustered 5'-AUUUA-3' motifs (PubMed:7892223).{ECO:0000269|PubMed:11738050, ECO:0000269|PubMed:12434311,ECO:0000269|PubMed:12655555, ECO:0000269|PubMed:7892223,ECO:0000303|PubMed:29056341}. |
| 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 NFIL3_AUH |
| 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 NFIL3_AUH |
| 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 |
| NFIL3 | DR1, CBX8, MAFG, MAFF, BATF, NFIL3, DDIT3, TRAF2, AMOTL2, DEC1, CREB1, DNMT3L, RFWD2, STK40, ATF1, MCM9 | AUH | AUH, ECHDC2, OXLD1, ATP5D, MRPL21, BPNT1, FAM107A |
| - 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 NFIL3_AUH |
| 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 NFIL3_AUH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NFIL3 | C0877792 | Sleep Disorders, Circadian Rhythm | 1 | CTD_human |
| Tgene | AUH | C0342727 | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I | 1 | CTD_human;ORPHANET;UNIPROT |
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