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Fusion gene ID: 24822 |
FusionGeneSummary for NRBF2_SAE1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NRBF2_SAE1 | Fusion gene ID: 24822 | Hgene | Tgene | Gene symbol | NRBF2 | SAE1 | Gene ID | 29982 | 10055 |
| Gene name | nuclear receptor binding factor 2 | SUMO1 activating enzyme subunit 1 | |
| Synonyms | COPR|COPR1|COPR2|NRBF-2 | AOS1|HSPC140|SUA1|UBLE1A | |
| Cytomap | 10q21.3 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear receptor-binding factor 2comodulator of PPAR and RXR 1comodulator of PPAR and RXR 2 | SUMO-activating enzyme subunit 1SUMO-1 activating enzyme E1 N subunitSUMO-1 activating enzyme subunit 1activator of SUMO1sentrin/SUMO-activating protein AOS1ubiquitin-like 1-activating enzyme E1Aubiquitin-like protein SUMO-1 activating enzyme | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q96F24 | Q9UBE0 | |
| Ensembl transtripts involved in fusion gene | ENST00000277746, ENST00000435510, | ENST00000413379, ENST00000540850, ENST00000598840, ENST00000270225, ENST00000392776, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 6 X 4 X 7=168 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NRBF2 [Title/Abstract] AND SAE1 [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 |
| Tgene | SAE1 | GO:0016925 | protein sumoylation | 15660128|20164921 |
| 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 | BRCA | TCGA-E9-A1R2-01A | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| * 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 | ENST00000277746 | ENST00000413379 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| 5CDS-5UTR | ENST00000277746 | ENST00000540850 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| 5CDS-5UTR | ENST00000277746 | ENST00000598840 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| 5CDS-5UTR | ENST00000277746 | ENST00000270225 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| 5CDS-5UTR | ENST00000277746 | ENST00000392776 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| intron-3CDS | ENST00000435510 | ENST00000413379 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| intron-5UTR | ENST00000435510 | ENST00000540850 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| intron-5UTR | ENST00000435510 | ENST00000598840 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| intron-5UTR | ENST00000435510 | ENST00000270225 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
| intron-5UTR | ENST00000435510 | ENST00000392776 | NRBF2 | chr10 | 64906053 | + | SAE1 | chr19 | 47646751 | + |
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FusionProtFeatures for NRBF2_SAE1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NRBF2 | SAE1 |
| May modulate transcriptional activation by targetnuclear receptors. Can act as transcriptional activator (invitro). {ECO:0000269|PubMed:15610520}. Involved in starvation-induced autophagy probably by itsassociation with PI3K complex I (PI3KC3-C1). However, effects hasbeen described variably. Involved in the induction of starvation-induced autophagy (PubMed:24785657). Stabilzes PI3KC3-C1 assemblyand enhances ATG14-linked lipid kinase activity of PIK3C3 (Bysimilarity). Proposed to negatively regulate basal and starvation-induced autophagy and to inhibit PIK3C3 activity by modulatinginteractions in PI3KC3-C1 (PubMed:25086043). May be involved inautophagosome biogenesis (PubMed:25086043). May play a role inneural progenitor cell survival during differentiation (Bysimilarity). {ECO:0000250|UniProtKB:Q8VCQ3,ECO:0000269|PubMed:24785657, ECO:0000269|PubMed:25086043}. | The heterodimer acts as an E1 ligase for SUMO1, SUMO2,SUMO3, and probably SUMO4. It mediates ATP-dependent activation ofSUMO proteins followed by formation of a thioester bond between aSUMO protein and a conserved active site cysteine residue onUBA2/SAE2. {ECO:0000269|PubMed:10187858,ECO:0000269|PubMed:10217437, ECO:0000269|PubMed:11451954,ECO:0000269|PubMed:11481243, ECO:0000269|PubMed:15660128,ECO:0000269|PubMed:20164921, ECO:0000269|PubMed:9920803}. |
| 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 NRBF2_SAE1 |
| 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 NRBF2_SAE1 |
| 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 |
| NRBF2 | PPARA, RXRA, RARA, THRB, IKBKG, BECN1, ATG14, CPVL, PA2G4, PGK1, PIK3C3, C1orf216, CCDC183, PIK3R4, CALCOCO2, TGFBRAP1, GALT, SOGA3, EWSR1, CEP128, CEP44, FBF1, SASS6, RHOU, SCOC, PMF1 | SAE1 | UBA2, UBE2I, FKBP4, SUMO3, UNC79, CYP1B1, SUMO1, SUMO2, BCL6, ETV4, APP, BAG3, IL3RA, PTK2, AARS, ADSL, DHPS, LPP, PDE12, RANGAP1, CALU, CUL5, DPP9, MCM3, NPLOC4, OSGEP, PANK4, PPP2R5E, TRMT10A, RPRD1B, SRP14, TP53RK, TPD52L2, WDR4, USP39, HSPA1A, HSPA2, FUS, FAF2, ABCE1, FRG1B, PSMB6, UBE2M, TYMS, NTRK1, KRAS, MYC, EWSR1, OFD1, CTSC, GDF15, PQBP1, WAS, DNM1L, SOD1, EDEM3 |
| - 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 NRBF2_SAE1 |
| 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 NRBF2_SAE1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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