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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: 12368

FusionGeneSummary for EZH2_RUFY2

check button Fusion gene summary
Fusion gene informationFusion gene name: EZH2_RUFY2
Fusion gene ID: 12368
HgeneTgene
Gene symbol

EZH2

RUFY2

Gene ID

2146

55680

Gene nameenhancer of zeste 2 polycomb repressive complex 2 subunitRUN and FYVE domain containing 2
SynonymsENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2RABIP4R|ZFYVE13
Cytomap

7q36.1

10q21.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6RUN and FYVE domain-containing protein 2Run- and FYVE-domain containing proteinantigen MU-RMS-40.17rab4-interacting protein related
Modification date2018052720180523
UniProtAcc

Q15910

Q8WXA3

Ensembl transtripts involved in fusion geneENST00000478654, ENST00000460911, 
ENST00000350995, ENST00000320356, 
ENST00000541220, ENST00000476773, 
ENST00000483967, ENST00000536783, 
ENST00000388768, ENST00000602465, 
ENST00000265865, ENST00000399200, 
ENST00000454950, ENST00000472394, 
ENST00000342616, 
Fusion gene scores* DoF score6 X 7 X 3=1265 X 6 X 4=120
# samples 66
** MAII scorelog2(6/126*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EZH2 [Title/Abstract] AND RUFY2 [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
HgeneEZH2

GO:0000122

negative regulation of transcription by RNA polymerase II

20154697

HgeneEZH2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20154697

HgeneEZH2

GO:0043406

positive regulation of MAP kinase activity

20154697

HgeneEZH2

GO:0043547

positive regulation of GTPase activity

20154697

HgeneEZH2

GO:0045814

negative regulation of gene expression, epigenetic

20154697

HgeneEZH2

GO:0070734

histone H3-K27 methylation

24474760

HgeneEZH2

GO:0071902

positive regulation of protein serine/threonine kinase activity

20154697


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
ChiTaRS3.1CA417159EZH2chr7

148504703

+RUFY2chr10

70136641

+
* 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
intron-3CDSENST00000478654ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000478654ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000478654ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000478654ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000478654ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000478654ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000478654ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000460911ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000460911ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000460911ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000460911ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000460911ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000460911ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000460911ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000350995ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000350995ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000350995ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000350995ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000350995ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000350995ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000350995ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000320356ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000320356ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000320356ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000320356ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000320356ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000320356ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000320356ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000541220ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000541220ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000541220ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000541220ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000541220ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000541220ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000541220ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000476773ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000476773ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000476773ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000476773ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000476773ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000476773ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000476773ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000483967ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000483967ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000483967ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000483967ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000483967ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000483967ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000483967ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000536783ENST00000388768EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000536783ENST00000602465EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-3CDSENST00000536783ENST00000265865EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000536783ENST00000399200EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000536783ENST00000454950EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000536783ENST00000472394EZH2chr7

148504703

+RUFY2chr10

70136641

+
intron-intronENST00000536783ENST00000342616EZH2chr7

148504703

+RUFY2chr10

70136641

+

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FusionProtFeatures for EZH2_RUFY2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EZH2

Q15910

RUFY2

Q8WXA3


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 EZH2_RUFY2


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 EZH2_RUFY2


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


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 EZH2_RUFY2


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 EZH2_RUFY2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEZH2C0033578Prostatic Neoplasms3CTD_human
HgeneEZH2C0001815Primary Myelofibrosis1CTD_human
HgeneEZH2C0010278Craniosynostosis1CTD_human
HgeneEZH2C0014170Endometrial Neoplasms1CTD_human
HgeneEZH2C0024301Lymphoma, Follicular1CTD_human
HgeneEZH2C0029463Osteosarcoma1CTD_human
HgeneEZH2C0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneEZH2C0265210Weaver syndrome1ORPHANET;UNIPROT
HgeneEZH2C0349639Juvenile Myelomonocytic Leukemia1CTD_human
HgeneEZH2C0749794Upper Extremity Deformities, Congenital1CTD_human
HgeneEZH2C1301355Myelodysplastic-Myeloproliferative Diseases1CTD_human
HgeneEZH2C1458155Mammary Neoplasms1CTD_human
HgeneEZH2C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
HgeneEZH2C3463824MYELODYSPLASTIC SYNDROME1CTD_human