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Fusion gene ID: 30947 |
FusionGeneSummary for REL_PUS10 |
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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) |
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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 |
![]() (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 |
![]() * 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 | ENST00000295025 | ENST00000316752 | REL | chr2 | 61149134 | + | PUS10 | chr2 | 61172243 | - |
Frame-shift | 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for REL_PUS10 |
![]() (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 |
![]() (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 |