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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: 11707

FusionGeneSummary for EPAS1_AFF3

check button Fusion gene summary
Fusion gene informationFusion gene name: EPAS1_AFF3
Fusion gene ID: 11707
HgeneTgene
Gene symbol

EPAS1

AFF3

Gene ID

2034

3899

Gene nameendothelial PAS domain protein 1AF4/FMR2 family member 3
SynonymsECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73LAF4|MLLT2-like
Cytomap

2p21

2q11.2

Type of geneprotein-codingprotein-coding
Descriptionendothelial 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 faAF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4
Modification date2018052320180523
UniProtAcc

Q99814

P51826

Ensembl transtripts involved in fusion geneENST00000263734, ENST00000467888, 
ENST00000409236, ENST00000356421, 
ENST00000317233, ENST00000409579, 
ENST00000483600, 
Fusion gene scores* DoF score9 X 8 X 3=2167 X 7 X 4=196
# samples 97
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPAS1 [Title/Abstract] AND AFF3 [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
HgeneEPAS1

GO:0001666

response to hypoxia

11782478

HgeneEPAS1

GO:0045944

positive regulation of transcription by RNA polymerase II

11573933

HgeneEPAS1

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
ChiTaRS3.1BI011520EPAS1chr2

46530359

+AFF3chr2

100573657

-
* 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-intronENST00000263734ENST00000409236EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000263734ENST00000356421EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000263734ENST00000317233EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000263734ENST00000409579EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000263734ENST00000483600EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000467888ENST00000409236EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000467888ENST00000356421EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000467888ENST00000317233EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000467888ENST00000409579EPAS1chr2

46530359

+AFF3chr2

100573657

-
intron-intronENST00000467888ENST00000483600EPAS1chr2

46530359

+AFF3chr2

100573657

-

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FusionProtFeatures for EPAS1_AFF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPAS1

Q99814

AFF3

P51826

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 EPAS1_AFF3


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 EPAS1_AFF3


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 EPAS1_AFF3


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 EPAS1_AFF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPAS1C2673187Erythrocytosis, Familial, 44CTD_human;UNIPROT
HgeneEPAS1C0007134Renal Cell Carcinoma1CTD_human
HgeneEPAS1C0007621Neoplastic Cell Transformation1CTD_human
HgeneEPAS1C0008625Chromosome Aberrations1CTD_human
TgeneAFF3C0003873Rheumatoid Arthritis2CTD_human
TgeneAFF3C0236969Substance-Related Disorders1CTD_human