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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: 27966

FusionGeneSummary for POLR2B_REST

check button Fusion gene summary
Fusion gene informationFusion gene name: POLR2B_REST
Fusion gene ID: 27966
HgeneTgene
Gene symbol

POLR2B

REST

Gene ID

5431

5978

Gene nameRNA polymerase II subunit BRE1 silencing transcription factor
SynonymsPOL2RB|RPB2|hRPB140GINGF5|HGF5|NRSF|WT6|XBR
Cytomap

4q12

4q12

Type of geneprotein-codingprotein-coding
DescriptionDNA-directed RNA polymerase II subunit RPB2DNA-directed RNA polymerase II 140 kDa polypeptideDNA-directed RNA polymerase II subunit BRNA polymerase II second largest subunitRNA polymerase II subunit 2RNA polymerase II subunit B2polymerase (RNA) II (RE1-silencing transcription factorneural-restrictive silencer factorneuron restrictive silencer factorrepressor binding to the X2 box
Modification date2018052320180523
UniProtAcc

P30876

Q13127

Ensembl transtripts involved in fusion geneENST00000381227, ENST00000431623, 
ENST00000441246, ENST00000314595, 
ENST00000510355, 
ENST00000309042, 
ENST00000514063, 
Fusion gene scores* DoF score5 X 5 X 4=1002 X 2 X 2=8
# samples 62
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: POLR2B [Title/Abstract] AND REST [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
HgenePOLR2B

GO:0006366

transcription by RNA polymerase II

9852112

TgeneREST

GO:0000122

negative regulation of transcription by RNA polymerase II

8568247|21284946

TgeneREST

GO:0043922

negative regulation by host of viral transcription

17555596

TgeneREST

GO:0045892

negative regulation of transcription, DNA-templated

7697725|10449787|10734093|17984088|19342457

TgeneREST

GO:0045893

positive regulation of transcription, DNA-templated

17984088

TgeneREST

GO:0070933

histone H4 deacetylation

17555596

TgeneREST

GO:0071385

cellular response to glucocorticoid stimulus

17984088


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
TCGALDHNSCTCGA-CN-6013-01APOLR2Bchr4

57857064

+RESTchr4

57832822

+
* 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
5CDS-intronENST00000381227ENST00000309042POLR2Bchr4

57857064

+RESTchr4

57832822

+
5CDS-intronENST00000381227ENST00000514063POLR2Bchr4

57857064

+RESTchr4

57832822

+
intron-intronENST00000431623ENST00000309042POLR2Bchr4

57857064

+RESTchr4

57832822

+
intron-intronENST00000431623ENST00000514063POLR2Bchr4

57857064

+RESTchr4

57832822

+
5CDS-intronENST00000441246ENST00000309042POLR2Bchr4

57857064

+RESTchr4

57832822

+
5CDS-intronENST00000441246ENST00000514063POLR2Bchr4

57857064

+RESTchr4

57832822

+
5CDS-intronENST00000314595ENST00000309042POLR2Bchr4

57857064

+RESTchr4

57832822

+
5CDS-intronENST00000314595ENST00000514063POLR2Bchr4

57857064

+RESTchr4

57832822

+
intron-intronENST00000510355ENST00000309042POLR2Bchr4

57857064

+RESTchr4

57832822

+
intron-intronENST00000510355ENST00000514063POLR2Bchr4

57857064

+RESTchr4

57832822

+

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FusionProtFeatures for POLR2B_REST


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
POLR2B

P30876

REST

Q13127

DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Second largest component of RNA polymerase II whichsynthesizes mRNA precursors and many functional non-coding RNAs.Proposed to contribute to the polymerase catalytic activity andforms the polymerase active center together with the largestsubunit. Pol II is the central component of the basal RNApolymerase II transcription machinery. It is composed of mobileelements that move relative to each other. RPB2 is part of thecore element with the central large cleft, the clamp element thatmoves to open and close the cleft and the jaws that are thought tograb the incoming DNA template (By similarity). {ECO:0000250,ECO:0000269|PubMed:9852112}. Transcriptional repressor which binds neuron-restrictivesilencer element (NRSE) and represses neuronal gene transcriptionin non-neuronal cells. Restricts the expression of neuronal genesby associating with two distinct corepressors, mSin3 and CoREST,which in turn recruit histone deacetylase to the promoters ofREST-regulated genes. Mediates repression by recruiting the BHCcomplex at RE1/NRSE sites which acts by deacetylating anddemethylating specific sites on histones, thereby acting as achromatin modifier. Transcriptional repression by REST-CDYL viathe recruitment of histone methyltransferase EHMT2 may beimportant in transformation suppression.{ECO:0000269|PubMed:12399542, ECO:0000269|PubMed:19061646,ECO:0000269|PubMed:26551668, ECO:0000269|PubMed:7697725,ECO:0000269|PubMed:7871435, ECO:0000269|PubMed:8568247}.

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 POLR2B_REST


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 POLR2B_REST


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
POLR2BMED10, MED9, MED29, MED19, MED28, MED26, POLR2C, POLR2E, POLR2L, POLR2H, POLR2K, BTF3, RECQL5, RPAP2, RPAP3, GTF2F2, POLR2G, POLR2J, RPAP1, RUVBL2, GPN1, GTF2F1, TCEA1, KDM1A, AIRE, POLR2A, LZTR1, IKBKG, ZSCAN1, CTDP1, INTS3, INTS5, INTS6, INTS1, ZC3H13, WDR82, TADA2A, MYC, SUB1, POLR2D, CALM1, SHFM1, INTS10, PIDD1, CUL3, CUL5, CAND1, CCNH, CDK7, MEN1, POLR2I, TUBA4A, TUBB4B, DCTN1, ATP6V1B2, POLR3F, BARD1, MDC1, VCP, HDAC11, CDK20, FBXO6, HECW2, ITCH, NEDD4, WWOX, RABEP2, ILK, XRN2, ESR1, SRC, PSMB9, TCEB3, OBSL1, SUZ12, RNF2, SNAR-B2, RPRD1B, GPN2, POLR2M, EEF1A1, EEFSEC, POLR1A, POLR1B, SUPT5H, POLR2F, POLR3A, RPS5, TUBB, NTRK1, IFI16, MED4, XPO1, DNAJC7, CTR9, CEP170P1, BRD2, NELFA, RNGTT, LMO2, GPN3, PIH1D1, ASB6, CPNE2, NCL, AAR2, INO80B, RUVBL1, URI1, WDR92, ZNHIT2, TRIM25, G3BP1RESTRCOR1, KDM5C, RNF2, NCOR1, HDAC2, HDAC1, CDYL, SMARCA4, HDAC5, HDAC4, SMARCE1, SMARCC2, SP1, TBP, GTF2B, SIN3B, SIN3A, SUB1, GRIA2, TERF2, BTRC, FBXW11, FBXW2, FBXW4, FBXW5, FBXW8, FBXW7, EIF4A3, EHMT2, CSNK1E, UBC, PLK1, TEX14, SCYL1, PIN1, MAPK1, CTDSP1, AURKA


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 POLR2B_REST


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 POLR2B_REST


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRESTC0015923Fetal Alcohol Syndrome1PSYGENET
TgeneRESTC0027708Nephroblastoma1CTD_human;HPO;ORPHANET
TgeneRESTC0036341Schizophrenia1PSYGENET
TgeneRESTC0036572Seizures1CTD_human
TgeneRESTC1269683Major Depressive Disorder1PSYGENET
TgeneRESTC3891301WILMS TUMOR, SUSCEPTIBILITY TO1UNIPROT