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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: 9186

FusionGeneSummary for CYR61_EPAS1

check button Fusion gene summary
Fusion gene informationFusion gene name: CYR61_EPAS1
Fusion gene ID: 9186
HgeneTgene
Gene symbol

CYR61

EPAS1

Gene ID

3491

2034

Gene namecysteine rich angiogenic inducer 61endothelial PAS domain protein 1
SynonymsCCN1|GIG1|IGFBP10ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73
Cytomap

1p22.3

2p21

Type of geneprotein-codingprotein-coding
Descriptionprotein CYR61CCN family member 1IBP-10IGF-binding protein 10IGFBP-10cysteine-rich heparin-binding protein 61cysteine-rich, anigogenic inducer, 61insulin-like growth factor-binding protein 10endothelial PAS domain-containing protein 1EPAS-1HIF-1-alpha-like factorHIF-1alpha-like factorHIF-2-alphaHIF2-alphaPAS domain-containing protein 2basic-helix-loop-helix-PAS protein MOP2class E basic helix-loop-helix protein 73hypoxia-inducible fa
Modification date2018052720180523
UniProtAcc

O00622

Q99814

Ensembl transtripts involved in fusion geneENST00000451137, ENST00000480413, 
ENST00000263734, ENST00000467888, 
Fusion gene scores* DoF score3 X 3 X 1=94 X 4 X 1=16
# samples 46
** MAII scorelog2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/16*10)=1.90689059560852
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CYR61 [Title/Abstract] AND EPAS1 [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
HgeneCYR61

GO:0001934

positive regulation of protein phosphorylation

20675382

HgeneCYR61

GO:0030335

positive regulation of cell migration

20675382

HgeneCYR61

GO:0033690

positive regulation of osteoblast proliferation

20675382

HgeneCYR61

GO:0044319

wound healing, spreading of cells

20675382

HgeneCYR61

GO:0045669

positive regulation of osteoblast differentiation

20675382

HgeneCYR61

GO:0045860

positive regulation of protein kinase activity

20675382

HgeneCYR61

GO:0045944

positive regulation of transcription by RNA polymerase II

20675382

HgeneCYR61

GO:0070372

regulation of ERK1 and ERK2 cascade

20675382

TgeneEPAS1

GO:0001666

response to hypoxia

11782478

TgeneEPAS1

GO:0045944

positive regulation of transcription by RNA polymerase II

11573933

TgeneEPAS1

GO:0071456

cellular response to hypoxia

11573933


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
ChiTaRS3.1BQ366671CYR61chr1

86048189

-EPAS1chr2

46588319

-
ChiTaRS3.1BQ366659CYR61chr1

86048189

-EPAS1chr2

46588319

-
* 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-intronENST00000451137ENST00000263734CYR61chr1

86048189

-EPAS1chr2

46588319

-
5CDS-intronENST00000451137ENST00000467888CYR61chr1

86048189

-EPAS1chr2

46588319

-
intron-intronENST00000480413ENST00000263734CYR61chr1

86048189

-EPAS1chr2

46588319

-
intron-intronENST00000480413ENST00000467888CYR61chr1

86048189

-EPAS1chr2

46588319

-

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FusionProtFeatures for CYR61_EPAS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CYR61

O00622

EPAS1

Q99814

Promotes cell proliferation, chemotaxis, angiogenesisand cell adhesion. Appears to play a role in wound healing by up-regulating, in skin fibroblasts, the expression of a number ofgenes involved in angiogenesis, inflammation and matrix remodelingincluding VEGA-A, VEGA-C, MMP1, MMP3, TIMP1, uPA, PAI-1 andintegrins alpha-3 and alpha-5. CYR61-mediated gene regulation isdependent on heparin-binding. Down-regulates the expression ofalpha-1 and alpha-2 subunits of collagen type-1. Promotes celladhesion and adhesive signaling through integrin alpha-6/beta-1,cell migration through integrin alpha-v/beta-5 and cellproliferation through integrin alpha-v/beta-3.{ECO:0000269|PubMed:11584015}. Transcription factor involved in the induction of oxygenregulated genes. Heterodimerizes with ARNT; heterodimer binds tocore DNA sequence 5'-TACGTG-3' within the hypoxia response element(HRE) of target gene promoters (By similarity). Regulates thevascular endothelial growth factor (VEGF) expression and seems tobe implicated in the development of blood vessels and the tubularsystem of lung. May also play a role in the formation of theendothelium that gives rise to the blood brain barrier. Potentactivator of the Tie-2 tyrosine kinase expression. Activationrequires recruitment of transcriptional coactivators such asCREBBP and probably EP300. Interaction with redox regulatoryprotein APEX seems to activate CTAD (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:P97481}.

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 CYR61_EPAS1


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 CYR61_EPAS1


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 CYR61_EPAS1


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 CYR61_EPAS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYR61C0003873Rheumatoid Arthritis1CTD_human
HgeneCYR61C2239176Liver carcinoma1CTD_human
TgeneEPAS1C2673187Erythrocytosis, Familial, 44CTD_human;UNIPROT
TgeneEPAS1C0007134Renal Cell Carcinoma1CTD_human
TgeneEPAS1C0007621Neoplastic Cell Transformation1CTD_human
TgeneEPAS1C0008625Chromosome Aberrations1CTD_human