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Fusion gene ID: 32546 |
FusionGeneSummary for SAE1_TBKBP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SAE1_TBKBP1 | Fusion gene ID: 32546 | Hgene | Tgene | Gene symbol | SAE1 | TBKBP1 | Gene ID | 10055 | 9755 |
| Gene name | SUMO1 activating enzyme subunit 1 | TBK1 binding protein 1 | |
| Synonyms | AOS1|HSPC140|SUA1|UBLE1A | ProSAPiP2|SINTBAD | |
| Cytomap | 19q13.32 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | TANK-binding kinase 1-binding protein 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UBE0 | A7MCY6 | |
| Ensembl transtripts involved in fusion gene | ENST00000413379, ENST00000540850, ENST00000598840, ENST00000270225, ENST00000392776, | ENST00000361722, | |
| Fusion gene scores | * DoF score | 9 X 3 X 8=216 | 3 X 2 X 3=18 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/216*10)=-1.43295940727611 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: SAE1 [Title/Abstract] AND TBKBP1 [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 | 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 | UCEC | TCGA-B5-A3S1-01A | SAE1 | chr19 | 47658470 | + | TBKBP1 | chr17 | 45785760 | + |
| * 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 | ENST00000413379 | ENST00000361722 | SAE1 | chr19 | 47658470 | + | TBKBP1 | chr17 | 45785760 | + |
| Frame-shift | ENST00000540850 | ENST00000361722 | SAE1 | chr19 | 47658470 | + | TBKBP1 | chr17 | 45785760 | + |
| intron-3CDS | ENST00000598840 | ENST00000361722 | SAE1 | chr19 | 47658470 | + | TBKBP1 | chr17 | 45785760 | + |
| Frame-shift | ENST00000270225 | ENST00000361722 | SAE1 | chr19 | 47658470 | + | TBKBP1 | chr17 | 45785760 | + |
| Frame-shift | ENST00000392776 | ENST00000361722 | SAE1 | chr19 | 47658470 | + | TBKBP1 | chr17 | 45785760 | + |
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FusionProtFeatures for SAE1_TBKBP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SAE1 | TBKBP1 |
| 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}. | Adapter protein which constitutively binds TBK1 andIKBKE playing a role in antiviral innate immunity.{ECO:0000269|PubMed:21931631}. |
| 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 SAE1_TBKBP1 |
| 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 SAE1_TBKBP1 |
| 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 |
| 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 | TBKBP1 | TBK1, CALCOCO2, ACAD11, AGO2, APBA3, FMR1, FXR2, IKBKE, OBSL1, RB1CC1, AZI2, TBKBP1, ANKRD28, LATS2, CEP250, MCM2, DFNB31 |
| - 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 SAE1_TBKBP1 |
| 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 SAE1_TBKBP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TBKBP1 | C0038013 | Ankylosing spondylitis | 1 | CTD_human |
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