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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: 31582

FusionGeneSummary for RNF40_PLK1

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF40_PLK1
Fusion gene ID: 31582
HgeneTgene
Gene symbol

RNF40

PLK1

Gene ID

9810

5347

Gene namering finger protein 40polo like kinase 1
SynonymsBRE1B|RBP95|STARINGPLK|STPK13
Cytomap

16p11.2

16p12.2

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase BRE1B95 kDa retinoblastoma protein binding protein95 kDa retinoblastoma-associated proteinBRE1 E3 ubiquitin ligase homolog BBRE1-BRING-type E3 ubiquitin transferase BRE1BRb-associated proteinring finger protein 40, E3 ubserine/threonine-protein kinase PLK1PLK-1cell cycle regulated protein kinasepolo (Drosophia)-like kinaseserine/threonine-protein kinase 13
Modification date2018052220180522
UniProtAcc

O75150

P53350

Ensembl transtripts involved in fusion geneENST00000324685, ENST00000402121, 
ENST00000563683, ENST00000357890, 
ENST00000567365, 
ENST00000300093, 
ENST00000564202, 
Fusion gene scores* DoF score4 X 5 X 4=803 X 3 X 2=18
# samples 53
** MAII scorelog2(5/80*10)=-0.678071905112638
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: RNF40 [Title/Abstract] AND PLK1 [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
HgeneRNF40

GO:0010390

histone monoubiquitination

16307923

HgeneRNF40

GO:0033523

histone H2B ubiquitination

16307923

TgenePLK1

GO:0000086

G2/M transition of mitotic cell cycle

19160488

TgenePLK1

GO:0000278

mitotic cell cycle

18615013

TgenePLK1

GO:0000281

mitotic cytokinesis

19468302

TgenePLK1

GO:0001578

microtubule bundle formation

12939256

TgenePLK1

GO:0006468

protein phosphorylation

19468300|20679239|22701722

TgenePLK1

GO:0016567

protein ubiquitination

16885022

TgenePLK1

GO:0018105

peptidyl-serine phosphorylation

16885022

TgenePLK1

GO:0031648

protein destabilization

16885022

TgenePLK1

GO:0032465

regulation of cytokinesis

17351640

TgenePLK1

GO:0045862

positive regulation of proteolysis

16885022

TgenePLK1

GO:0071168

protein localization to chromatin

21111234

TgenePLK1

GO:0072425

signal transduction involved in G2 DNA damage checkpoint

18662541

TgenePLK1

GO:1901673

regulation of mitotic spindle assembly

22621898

TgenePLK1

GO:1904668

positive regulation of ubiquitin protein ligase activity

15148369


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
TCGARVBRCATCGA-AC-A6IV-01ARNF40chr16

30783511

+PLK1chr16

23698790

+
* 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-shiftENST00000324685ENST00000300093RNF40chr16

30783511

+PLK1chr16

23698790

+
5CDS-intronENST00000324685ENST00000564202RNF40chr16

30783511

+PLK1chr16

23698790

+
Frame-shiftENST00000402121ENST00000300093RNF40chr16

30783511

+PLK1chr16

23698790

+
5CDS-intronENST00000402121ENST00000564202RNF40chr16

30783511

+PLK1chr16

23698790

+
Frame-shiftENST00000563683ENST00000300093RNF40chr16

30783511

+PLK1chr16

23698790

+
5CDS-intronENST00000563683ENST00000564202RNF40chr16

30783511

+PLK1chr16

23698790

+
Frame-shiftENST00000357890ENST00000300093RNF40chr16

30783511

+PLK1chr16

23698790

+
5CDS-intronENST00000357890ENST00000564202RNF40chr16

30783511

+PLK1chr16

23698790

+
3UTR-3CDSENST00000567365ENST00000300093RNF40chr16

30783511

+PLK1chr16

23698790

+
3UTR-intronENST00000567365ENST00000564202RNF40chr16

30783511

+PLK1chr16

23698790

+

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FusionProtFeatures for RNF40_PLK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF40

O75150

PLK1

P53350

Component of the RNF20/40 E3 ubiquitin-protein ligasecomplex that mediates monoubiquitination of 'Lys-120' of histoneH2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetictranscriptional activation and is also prerequisite for histone H3'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me,respectively). It thereby plays a central role in histone code andgene regulation. The RNF20/40 complex forms a H2B ubiquitin ligasecomplex in cooperation with the E2 enzyme UBE2A or UBE2B; reportsabout the cooperation with UBE2E1/UBCH are contradictory. Requiredfor transcriptional activation of Hox genes.{ECO:0000269|PubMed:16307923, ECO:0000269|PubMed:19410543}. Serine/threonine-protein kinase that performs severalimportant functions throughout M phase of the cell cycle,including the regulation of centrosome maturation and spindleassembly, the removal of cohesins from chromosome arms, theinactivation of anaphase-promoting complex/cyclosome (APC/C)inhibitors, and the regulation of mitotic exit and cytokinesis.Polo-like kinase proteins acts by binding and phosphorylatingproteins are that already phosphorylated on a specific motifrecognized by the POLO box domains. Phosphorylates BORA,BUB1B/BUBR1, CCNB1, CDC25C, CEP55, ECT2, ERCC6L, FBXO5/EMI1,FOXM1, KIF20A/MKLP2, CENPU, NEDD1, NINL, NPM1, NUDC, PKMYT1/MYT1,KIZ, PPP1R12A/MYPT1, PRC1, RACGAP1/CYK4, SGO1, STAG2/SA2, TEX14,TOPORS, p73/TP73, TPT1, WEE1 and HNRNPU. Plays a key role incentrosome functions and the assembly of bipolar spindles byphosphorylating KIZ, NEDD1 and NINL. NEDD1 phosphorylationpromotes subsequent targeting of the gamma-tubulin ring complex(gTuRC) to the centrosome, an important step for spindleformation. Phosphorylation of NINL component of the centrosomeleads to NINL dissociation from other centrosomal proteins.Involved in mitosis exit and cytokinesis by phosphorylating CEP55,ECT2, KIF20A/MKLP2, CENPU, PRC1 and RACGAP1. Recruited at thecentral spindle by phosphorylating and docking PRC1 andKIF20A/MKLP2; creates its own docking sites on PRC1 andKIF20A/MKLP2 by mediating phosphorylation of sites subsequentlyrecognized by the POLO box domains. Phosphorylates RACGAP1,thereby creating a docking site for the Rho GTP exchange factorECT2 that is essential for the cleavage furrow formation. Promotesthe central spindle recruitment of ECT2. Plays a central role inG2/M transition of mitotic cell cycle by phosphorylating CCNB1,CDC25C, FOXM1, CENPU, PKMYT1/MYT1, PPP1R12A/MYPT1 and WEE1. Partof a regulatory circuit that promotes the activation of CDK1 byphosphorylating the positive regulator CDC25C and inhibiting thenegative regulators WEE1 and PKMYT1/MYT1. Also acts by mediatingphosphorylation of cyclin-B1 (CCNB1) on centrosomes in prophase.Phosphorylates FOXM1, a key mitotic transcription regulator,leading to enhance FOXM1 transcriptional activity. Involved inkinetochore functions and sister chromatid cohesion byphosphorylating BUB1B/BUBR1, FBXO5/EMI1 and STAG2/SA2. PLK1 ishigh on non-attached kinetochores suggesting a role of PLK1 inkinetochore attachment or in spindle assembly checkpoint (SAC)regulation. Required for kinetochore localization of BUB1B.Regulates the dissociation of cohesin from chromosomes byphosphorylating cohesin subunits such as STAG2/SA2. PhosphorylatesSGO1: required for spindle pole localization of isoform 3 of SGO1and plays a role in regulating its centriole cohesion function.Mediates phosphorylation of FBXO5/EMI1, a negative regulator ofthe APC/C complex during prophase, leading to FBXO5/EMI1ubiquitination and degradation by the proteasome. Acts as anegative regulator of p53 family members: phosphorylates TOPORS,leading to inhibit the sumoylation of p53/TP53 and simultaneouslyenhance the ubiquitination and subsequent degradation of p53/TP53.Phosphorylates the transactivation domain of the transcriptionfactor p73/TP73, leading to inhibit p73/TP73-mediatedtranscriptional activation and pro-apoptotic functions.Phosphorylates BORA, and thereby promotes the degradation of BORA.Contributes to the regulation of AURKA function. Also required forrecovery after DNA damage checkpoint and entry into mitosis.Phosphorylates MISP, leading to stabilization of cortical andastral microtubule attachments required for proper spindlepositioning (PubMed:8991084, PubMed:11202906, PubMed:12207013,PubMed:12447691, PubMed:12524548, PubMed:12738781,PubMed:12852856, PubMed:12939256, PubMed:14532005,PubMed:14734534, PubMed:15070733, PubMed:15148369,PubMed:15469984, PubMed:16198290, PubMed:16247472,PubMed:16980960, PubMed:17081991, PubMed:17351640,PubMed:17376779, PubMed:17617734, PubMed:18174154,PubMed:18331714, PubMed:18418051, PubMed:18477460,PubMed:18521620, PubMed:18615013, PubMed:19160488,PubMed:19351716, PubMed:19468300, PubMed:19468302,PubMed:19473992, PubMed:19509060, PubMed:19597481,PubMed:23455478, PubMed:23509069). Together with MEIKIN, acts as aregulator of kinetochore function during meiosis I: required bothfor mono-orientation of kinetochores on sister chromosomes andprotection of centromeric cohesin from separase-mediated cleavage(By similarity). Phosphorylates CEP68 and is required for itsdegradation (PubMed:25503564). Regulates nuclear envelopebreakdown during prophase by phosphorylating DCTN1 resulting inits localization in the nuclear envelope (PubMed:20679239).Phosphorylates the heat shock transcription factor HSF1, promotingHSF1 nuclear translocation upon heat shock (PubMed:15661742).Phosphorylates HSF1 also in the early mitotic period; thisphosphorylation regulates HSF1 localization to the spindle pole,the recruitment of the SCF(BTRC) ubiquitin ligase complexinduicing HSF1 degradation, and hence mitotic progression(PubMed:18794143). Regulates mitotic progression byphosphorylating RIOK2 (PubMed:21880710).{ECO:0000250|UniProtKB:Q5F2C3, ECO:0000269|PubMed:11202906,ECO:0000269|PubMed:12207013, ECO:0000269|PubMed:12447691,ECO:0000269|PubMed:12524548, ECO:0000269|PubMed:12738781,ECO:0000269|PubMed:12852856, ECO:0000269|PubMed:12939256,ECO:0000269|PubMed:14532005, ECO:0000269|PubMed:14734534,ECO:0000269|PubMed:15070733, ECO:0000269|PubMed:15148369,ECO:0000269|PubMed:15469984, ECO:0000269|PubMed:15661742,ECO:0000269|PubMed:16198290, ECO:0000269|PubMed:16247472,ECO:0000269|PubMed:16980960, ECO:0000269|PubMed:17081991,ECO:0000269|PubMed:17351640, ECO:0000269|PubMed:17376779,ECO:0000269|PubMed:17617734, ECO:0000269|PubMed:18174154,ECO:0000269|PubMed:18331714, ECO:0000269|PubMed:18418051,ECO:0000269|PubMed:18477460, ECO:0000269|PubMed:18521620,ECO:0000269|PubMed:18615013, ECO:0000269|PubMed:18794143,ECO:0000269|PubMed:19160488, ECO:0000269|PubMed:19351716,ECO:0000269|PubMed:19468300, ECO:0000269|PubMed:19468302,ECO:0000269|PubMed:19473992, ECO:0000269|PubMed:19509060,ECO:0000269|PubMed:19597481, ECO:0000269|PubMed:20679239,ECO:0000269|PubMed:21880710, ECO:0000269|PubMed:23455478,ECO:0000269|PubMed:23509069, ECO:0000269|PubMed:25503564,ECO:0000269|PubMed:25986610, ECO:0000269|PubMed:8991084}.

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 RNF40_PLK1


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 RNF40_PLK1


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
RNF40TRIM51, NCBP1, ZNF451, STX1A, UBE2L6, USP15, RNF20, WAC, TERF1, TERF2, AR, CDC73, ATM, ITSN1, HIST2H2BE, RB1, RNF40, UBE2E1, NOTCH1, HSP90AA1, UBE2A, MSL1, MSL2, PAF1, CDK9, UBE2B, UBE2I, AMOTL2, CCDC146, SFR1, NXF1, SIRT6, OIP5, SNAP29, MORC1, FCGR3A, TALDO1, TRABD, MBIP, DSN1, PLEKHO2, C17orf59, WNT4, IL36A, IER2, PLCG1, CIAPIN1, CMTR1, SEPT2, SNX2, TXNDC5, WDR61, XPNPEP1, NTRK1, ESR1, SUPT6H, KRAS, EWSR1, HSPA5, UBE2S, IWS1, KLC3, GTF2H5, KIF11, TRAIP, TCP10L, OLFM2, COG6, HNRNPLL, TEX13A, MED21, CCDC53, ZNF232, FAM196A, SNX32, NELL2, NUPL1, MTNR1B, FBXL19PLK1BRCA2, NUDC, DCTN1, GET4, MAGED1, RECQL5, DNAJB9, CDC25C, PIN1, TSC1, TSC2, CHEK2, PSMA7, PSMA5, PSMA2, PSMA6, PSMB1, PSMB3, PSMA1, PSMA3, PSMA4, PSMB5, PSMB6, PSMB7, BORA, SGOL1, CYLD, USP20, BABAM1, SLX4, SLX1B, SPAG9, BICD2, ERCC6L, C2orf44, PPP6R2, TMF1, BICD1, DCTPP1, FABP3, ANKRD44, OSBPL6, LPL, PTHLH, BTN1A1, CEP97, SRPX, ANKRD28, ANKRD52, SLX4IP, GTF3C3, RGPD4, ERCC4, CLSPN, STK3, AURKA, FBXO5, CTBP1, TANK, IKBKG, CHFR, TOPORS, CTNNB1, RELA, MYC, TNFSF11, MAPK6, ACTL6B, CIC, RXRA, RNF126, LRP5L, CCDC115, FBXL5, VRK3, EIF6, PPID, LMO4, C9orf114, MPP2, ZNF71, GLB1, TP53BP2, SIMC1, BAG6, C6orf136, CPSF3L, ITSN1, TUBA1A, TUBB3, TUBG1, NEDD4, DNHD1, CENPU, CENPQ, CSN2, IKBKB, TRIOBP, CALML5, HSF1, COPS5, PTPN14, BUB1B, CSN1S1, BUB1, MDM2, TP53, NINL, USP37, WEE1, STAG2, SNCA, SNCB, APP, NDC80, TP53I3, CDC20, VCP, HSPA4, KLHL22, KLHL21, KLHL9, CUL2, SUGT1, LATS1, CDCA5, TP53BP1, PHC2, OFD1, RABAC1, FLJ20712, KRBA1, FZR1, FBXO6, MUS81, NUAK1, EGFR, BRCA1, RAP1GAP, CDC14A, C11orf74, DRICH1, TRAK2, CACNG3, FAM53C, LTBR, CDC20B, MIER2, RAI14, TOPBP1, KAT8, CLU, KIF2C, REST, DDX17, SMC1A, RRM2, SMC3, NTRK1, KRAS, PLK4, CENPJ, PCM1, CEP104, CEP162, CNTROB, FGFR1OP, CEP128, CEP135, CNTRL, FBF1, NIN, ODF2, LCA5, AHSA1, ATP7A, CIRBP, DNM2, DSC1, DSG1, MECP2, MST1R, NDUFA10, PITPNA, RBBP8, EVI5, VAMP4, EED, CHD1L, ORC3, SACS, DNAAF5, HMCES, BIRC6, EPS15L1, ZCCHC6, MRPL55, RPP25L, FOXO3, USP16, PARK2, RICTOR, SNW1, CDC5L, MAPKAPK2, TOP2A, NFATC2, FBXW7, PTEN, RGCC, MTMR14, MTMR3, ZC3HC1, C1orf226, MPRIP, ARHGAP5, PRRC1, MAVS, NOS1AP, STXBP4, DCAF11, RGS20, TBK1, SATB2, PAK7, FAM131B, FEZ1, C11orf85, MED1, HDAC2, GTF3C5, CFAP20, SPAG5, SF3B3, USP15, MCM2, MCM4, MCM6, IVNS1ABP, GTF3C4, RFX3, FOXJ1, NEK7, IFT43, DCAF7, JADE1, SREBF1, BCL2L1, TRIM25


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 RNF40_PLK1


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 RNF40_PLK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePLK1C0017638Glioma1CTD_human
TgenePLK1C0023418leukemia1CTD_human