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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30947

FusionGeneSummary for REL_PUS10

check button Fusion gene summary
Fusion gene informationFusion gene name: REL_PUS10
Fusion gene ID: 30947
HgeneTgene
Gene symbol

REL

PUS10

Gene ID

5966

150962

Gene nameREL proto-oncogene, NF-kB subunitpseudouridylate synthase 10
SynonymsC-RelCCDC139|DOBI
Cytomap

2p16.1

2p16.1-p15

Type of geneprotein-codingprotein-coding
Descriptionproto-oncogene c-Reloncogene REL, avian reticuloendotheliosisv-rel avian reticuloendotheliosis viral oncogene homologputative tRNA pseudouridine synthase Pus10coiled-coil domain containing 139coiled-coil domain-containing protein 139pseudouridine synthase 10psi55 synthasetRNA pseudouridine 55 synthasetRNA pseudouridylate synthasetRNA-uridine isomerase
Modification date2018052320180523
UniProtAcc

Q04864

Q3MIT2

Ensembl transtripts involved in fusion geneENST00000295025, ENST00000394479, 
ENST00000316752, ENST00000407787, 
ENST00000398658, 
Fusion gene scores* DoF score5 X 5 X 4=1002 X 2 X 2=8
# samples 52
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneREL

GO:0010629

negative regulation of gene expression

22065573

HgeneREL

GO:0032688

negative regulation of interferon-beta production

22065573

HgeneREL

GO:0045944

positive regulation of transcription by RNA polymerase II

1406630


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDDLBCTCGA-FA-A82F-01ARELchr2

61149134

+PUS10chr2

61172243

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000295025ENST00000316752RELchr2

61149134

+PUS10chr2

61172243

-
Frame-shitENST00000295025ENST00000407787RELchr2

61149134

+PUS10chr2

61172243

-
5CDS-intronENST00000295025ENST00000398658RELchr2

61149134

+PUS10chr2

61172243

-
In-frameENST00000394479ENST00000316752RELchr2

61149134

+PUS10chr2

61172243

-
In-frameENST00000394479ENST00000407787RELchr2

61149134

+PUS10chr2

61172243

-
5CDS-intronENST00000394479ENST00000398658RELchr2

61149134

+PUS10chr2

61172243

-

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FusionProtFeatures for REL_PUS10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
REL

Q04864

PUS10

Q3MIT2

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for REL_PUS10


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
RELPPP4C, 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, NFKBIDPUS10FAM206A


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for REL_PUS10


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for REL_PUS10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRELC0003873Rheumatoid Arthritis3CTD_human
HgeneRELC0018843Heat Stroke1CTD_human
HgeneRELC0019829Hodgkin Disease1CTD_human
HgeneRELC0025261Memory Disorders1CTD_human
HgeneRELC0033860Psoriasis1CTD_human