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Fusion gene ID: 30947 |
FusionGeneSummary for REL_PUS10 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: REL_PUS10 | Fusion gene ID: 30947 | Hgene | Tgene | Gene symbol | REL | PUS10 | Gene ID | 5966 | 150962 |
| Gene name | REL proto-oncogene, NF-kB subunit | pseudouridylate synthase 10 | |
| Synonyms | C-Rel | CCDC139|DOBI | |
| Cytomap | 2p16.1 | 2p16.1-p15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | proto-oncogene c-Reloncogene REL, avian reticuloendotheliosisv-rel avian reticuloendotheliosis viral oncogene homolog | putative tRNA pseudouridine synthase Pus10coiled-coil domain containing 139coiled-coil domain-containing protein 139pseudouridine synthase 10psi55 synthasetRNA pseudouridine 55 synthasetRNA pseudouridylate synthasetRNA-uridine isomerase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q04864 | Q3MIT2 | |
| Ensembl transtripts involved in fusion gene | ENST00000295025, ENST00000394479, | ENST00000316752, ENST00000407787, ENST00000398658, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: REL [Title/Abstract] AND PUS10 [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 | REL | GO:0010629 | negative regulation of gene expression | 22065573 |
| Hgene | REL | GO:0032688 | negative regulation of interferon-beta production | 22065573 |
| Hgene | REL | GO:0045944 | positive regulation of transcription by RNA polymerase II | 1406630 |
| 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 | DLBC | TCGA-FA-A82F-01A | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
| * 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-shit | ENST00000295025 | ENST00000316752 | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
| Frame-shit | ENST00000295025 | ENST00000407787 | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
| 5CDS-intron | ENST00000295025 | ENST00000398658 | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
| In-frame | ENST00000394479 | ENST00000316752 | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
| In-frame | ENST00000394479 | ENST00000407787 | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
| 5CDS-intron | ENST00000394479 | ENST00000398658 | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
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FusionProtFeatures for REL_PUS10 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| REL | PUS10 |
| Proto-oncogene that may play a role in differentiationand lymphopoiesis. NF-kappa-B is a pleiotropic transcriptionfactor which is present in almost all cell types and is involvedin many biological processed such as inflammation, immunity,differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-likedomain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50,REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA oftheir target genes and the individual dimers have distinctpreferences for different kappa-B sites that they can bind withdistinguishable affinity and specificity. Different dimercombinations act as transcriptional activators or repressors,respectively. NF-kappa-B is controlled by various mechanisms ofpost-translational modification and subcellularcompartmentalization as well as by interactions with othercofactors or corepressors. NF-kappa-B complexes are held in thecytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activationpathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs)in response to different activators, subsequently degraded thusliberating the active NF-kappa-B complex which translocates to thenucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is atranscriptional activator. | Pseudouridylate synthases catalyze pseudouridination ofstructural RNAs, including transfer, ribosomal, and splicing RNAs.PUS10 catalyzes the formation of the universal psi55 in the GCloop of transfer RNAs (Probable). Modulator of TRAIL-induced celldeath via activation of procaspase 8 and BID cleavage. Requiredfor the progression of the apoptotic signal through intrinsicmitochondrial cell death. {ECO:0000269|PubMed:14527409,ECO:0000269|PubMed:19712588, ECO:0000305}. |
| 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 REL_PUS10 |
| 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 REL_PUS10 |
| 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 |
| REL | PPP4C, MAP3K8, PAPOLA, RELA, NFKB1, NFKB2, TBK1, TNIP2, NFKBIE, ELF1, SRF, TBP, GTF2B, SP1, NKRF, MTPN, MAPK8, NFKBIA, NFKBIB, CDK2, CREBBP, EP300, FOXP3, DPF2, HSPA4, COMMD1, SOCS3, CXCL14, AAAS, CLIC4, TMEM165, C9orf91, AR, ADRB2, ADSL, ARNT2, BZRAP1, DGCR6, FHIT, MVP, NDE1, PARK2, PRKAB2, TDO2, ACTN3, AES, ALOX5, BID, SEPT7, CDKN2C, CKS1B, COL8A1, DHPS, DNTT, EIF4EBP1, EIF5A, EPHB6, FHL2, FKBP1B, FLNA, GRB2, HIP1, UBE2K, HLA-DOA, LASP1, LMO1, LMO2, LNPEP, FOXO4, NEDD9, NUCB1, PLCB4, POLE2, POLR2L, PSMA1, PTGER3, PTK6, RABIF, SAT1, ATXN1, SDCBP, SLC6A12, RECK, NCK2, HAT1, CGGBP1, STK16, EIF3A, EIF3D, EIF4E2, RBM39, KIAA0100, EPM2AIP1, ACOT8, CHAF1A, TSSC4, ARIH2, MAD2L2, GADD45G, MORF4L1, EXOSC8, R3HDM2, SEC31A, SZT2, TENC1, DAAM2, EML2, POLR1A, NDUFAF3, NECAP1, IL36RN, OSTF1, HSPB7, RSPH14, CPSF1, NME7, OSGIN1, A1CF, NEUROG3, EXOSC1, MEMO1, CHCHD2, DYNC1LI1, POP5, CINP, HDAC7, OAZ3, TRAPPC2L, UBASH3A, OTUD4, TTC19, SLC41A3, C1orf109, TXNL4B, MAGOHB, NAGK, ASAP3, NXT2, CABP5, EIF5A2, LGALS14, AGPAT4, MAP3K7CL, EXOSC5, PRDM10, CTNNBIP1, COL20A1, RNF213, LSM2, NGB, DMRT3, TMEM8A, PARVG, UBE2Z, OTUB2, C20orf195, ATG9A, CCNJL, SNRNP25, NOL9, FLAD1, TSSK3, RASSF5, C11orf68, PLEKHN1, MIEN1, VPS25, CEP19, KRTAP9-4, BMF, SLC39A13, ATPAF2, ZNF765, RIPPLY1, EGLN3, EFHC1, KLHL32, CIB3, PIH1D2, MRPL10, NR2C2AP, KLHL40, GLYCTK, ZNF572, ZNF417, TSTD2, PATE1, ZNF550, ZNF564, FUT11, TTC21A, STRA13, C9orf72, CPNE2, NEIL2, ZDHHC24, NUDT14, SEC14L4, BARHL2, RAB41, TRIM74, C12orf75, REXO1L6P, BTRC, RELB, TSR3, AURKA, XPO1, BIRC3, RGS3, HIF1AN, NFKBID | PUS10 | FAM206A |
| - 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 REL_PUS10 |
| 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 REL_PUS10 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | REL | C0003873 | Rheumatoid Arthritis | 3 | CTD_human |
| Hgene | REL | C0018843 | Heat Stroke | 1 | CTD_human |
| Hgene | REL | C0019829 | Hodgkin Disease | 1 | CTD_human |
| Hgene | REL | C0025261 | Memory Disorders | 1 | CTD_human |
| Hgene | REL | C0033860 | Psoriasis | 1 | CTD_human |
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