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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: 11710

FusionGeneSummary for EPAS1_HNRNPA2B1

check button Fusion gene summary
Fusion gene informationFusion gene name: EPAS1_HNRNPA2B1
Fusion gene ID: 11710
HgeneTgene
Gene symbol

EPAS1

HNRNPA2B1

Gene ID

2034

3181

Gene nameendothelial PAS domain protein 1heterogeneous nuclear ribonucleoprotein A2/B1
SynonymsECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|IBMPFD2|RNPA2|SNRPB1
Cytomap

2p21

7p15.2

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 faheterogeneous nuclear ribonucleoproteins A2/B1HNRNPA2B1/MYC fusionhnRNP A2 / hnRNP B1nuclear ribonucleoprotein particle A2 protein
Modification date2018052320180523
UniProtAcc

Q99814

P22626

Ensembl transtripts involved in fusion geneENST00000263734, ENST00000467888, 
ENST00000476233, ENST00000354667, 
ENST00000356674, 
Fusion gene scores* DoF score9 X 8 X 3=21615 X 19 X 2=570
# samples 921
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/570*10)=-1.44057259138598
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPAS1 [Title/Abstract] AND HNRNPA2B1 [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

TgeneHNRNPA2B1

GO:0006397

mRNA processing

2557628

TgeneHNRNPA2B1

GO:0006406

mRNA export from nucleus

10567417

TgeneHNRNPA2B1

GO:0031053

primary miRNA processing

26321680

TgeneHNRNPA2B1

GO:0050658

RNA transport

17004321

TgeneHNRNPA2B1

GO:1990428

miRNA transport

24356509


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
ChiTaRS3.1DA843244EPAS1chr2

46524791

+HNRNPA2B1chr7

26240366

-
* 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
5UTR-intronENST00000263734ENST00000476233EPAS1chr2

46524791

+HNRNPA2B1chr7

26240366

-
5UTR-intronENST00000263734ENST00000354667EPAS1chr2

46524791

+HNRNPA2B1chr7

26240366

-
5UTR-intronENST00000263734ENST00000356674EPAS1chr2

46524791

+HNRNPA2B1chr7

26240366

-
intron-intronENST00000467888ENST00000476233EPAS1chr2

46524791

+HNRNPA2B1chr7

26240366

-
intron-intronENST00000467888ENST00000354667EPAS1chr2

46524791

+HNRNPA2B1chr7

26240366

-
intron-intronENST00000467888ENST00000356674EPAS1chr2

46524791

+HNRNPA2B1chr7

26240366

-

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FusionProtFeatures for EPAS1_HNRNPA2B1


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

Q99814

HNRNPA2B1

P22626

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}. Heterogeneous nuclear ribonucleoprotein (hnRNP) thatassociates with nascent pre-mRNAs, packaging them into hnRNPparticles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilizethe transcripts and minimize tangling and knotting. Packagingplays a role in various processes such as transcription, pre-mRNAprocessing, RNA nuclear export, subcellular location, mRNAtranslation and stability of mature mRNAs (PubMed:19099192). FormshnRNP particles with at least 20 other different hnRNP andheterogeneous nuclear RNA in the nucleus. Involved in transport ofspecific mRNAs to the cytoplasm in oligodendrocytes and neurons:acts by specifically recognizing and binding the A2RE (21nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11nucleotide oligonucleotide) sequence motifs present on some mRNAs,and promotes their transport to the cytoplasm (PubMed:10567417).Specifically binds single-stranded telomeric DNA sequences,protecting telomeric DNA repeat against endonuclease digestion (Bysimilarity). Also binds other RNA molecules, such as primary miRNA(pri-miRNAs): acts as a nuclear 'reader' of the N6-methyladenosine(m6A) mark by specifically recognizing and binding a subset ofnuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8to pri-miRNA transcripts (PubMed:26321680). Involved in miRNAsorting into exosomes following sumoylation, possibly by binding(m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulatorof efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680).{ECO:0000250|UniProtKB:A7VJC2, ECO:0000269|PubMed:10567417,ECO:0000269|PubMed:24356509, ECO:0000269|PubMed:26321680,ECO:0000303|PubMed:19099192}. (Microbial infection) Involved in the transport of HIV-1genomic RNA out of the nucleus, to the microtubule organizingcenter (MTOC), and then from the MTOC to the cytoplasm: acts byspecifically recognizing and binding the A2RE (21 nucleotide hnRNPA2 response element) sequence motifs present on HIV-1 genomic RNA,and promotes its transport. {ECO:0000269|PubMed:15294897,ECO:0000269|PubMed:17004321}.

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_HNRNPA2B1


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_HNRNPA2B1


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_HNRNPA2B1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHNRNPA2B1P22626DB11638ArtenimolHeterogeneous nuclear ribonucleoproteins A2/B1small moleculeapproved|investigational

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RelatedDiseases for EPAS1_HNRNPA2B1


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
TgeneHNRNPA2B1C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgeneHNRNPA2B1C3809468INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 21UNIPROT