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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EPAS1-CRIPT (FusionGDB2 ID:HG2034TG9419)

Fusion Gene Summary for EPAS1-CRIPT

check button Fusion gene summary
Fusion gene informationFusion gene name: EPAS1-CRIPT
Fusion gene ID: hg2034tg9419
HgeneTgene
Gene symbol

EPAS1

CRIPT

Gene ID

2034

9419

Gene nameendothelial PAS domain protein 1CXXC repeat containing interactor of PDZ3 domain
SynonymsECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73HSPC139|SSMDF
Cytomap('EPAS1')('CRIPT')

2p21

2p21

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 facysteine-rich PDZ-binding proteincysteine-rich interactor of PDZ threecysteine-rich interactor of PDZ3postsynaptic protein CRIPT
Modification date2020031320200313
UniProtAcc

Q99814

.
Ensembl transtripts involved in fusion geneENST00000467888, ENST00000263734, 
Fusion gene scores* DoF score11 X 9 X 6=5941 X 3 X 1=3
# samples 122
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/3*10)=2.73696559416621
Context

PubMed: EPAS1 [Title/Abstract] AND CRIPT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEPAS1(46525076)-CRIPT(46845912), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUSCTCGA-NC-A5HG-01AEPAS1chr2

46525076

+CRIPTchr2

46845912

+
ChimerDB4LUSCTCGA-NC-A5HGEPAS1chr2

46525076

+CRIPTchr2

46844373

+
ChimerDB4LUSCTCGA-NC-A5HGEPAS1chr2

46525076

+CRIPTchr2

46845911

+
ChimerDB4LUSCTCGA-NC-A5HGEPAS1chr2

46525076

+CRIPTchr2

46845912

+


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Fusion Gene ORF analysis for EPAS1-CRIPT

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
3UTR-3UTRENST00000467888ENST00000238892EPAS1chr2

46525076

+CRIPTchr2

46845912

+
3UTR-3UTRENST00000467888ENST00000238892EPAS1chr2

46525076

+CRIPTchr2

46845911

+
3UTR-3UTRENST00000467888ENST00000486447EPAS1chr2

46525076

+CRIPTchr2

46845912

+
3UTR-3UTRENST00000467888ENST00000486447EPAS1chr2

46525076

+CRIPTchr2

46845911

+
3UTR-5UTRENST00000467888ENST00000238892EPAS1chr2

46525076

+CRIPTchr2

46844373

+
3UTR-intronENST00000467888ENST00000486447EPAS1chr2

46525076

+CRIPTchr2

46844373

+
5CDS-3UTRENST00000263734ENST00000238892EPAS1chr2

46525076

+CRIPTchr2

46845912

+
5CDS-3UTRENST00000263734ENST00000238892EPAS1chr2

46525076

+CRIPTchr2

46845911

+
5CDS-3UTRENST00000263734ENST00000486447EPAS1chr2

46525076

+CRIPTchr2

46845912

+
5CDS-3UTRENST00000263734ENST00000486447EPAS1chr2

46525076

+CRIPTchr2

46845911

+
5CDS-5UTRENST00000263734ENST00000238892EPAS1chr2

46525076

+CRIPTchr2

46844373

+
5CDS-intronENST00000263734ENST00000486447EPAS1chr2

46525076

+CRIPTchr2

46844373

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for EPAS1-CRIPT


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
EPAS1chr246525076+CRIPTchr246845911+0.194496150.80550385
EPAS1chr246525076+CRIPTchr246845911+0.194496150.80550385
EPAS1chr246525076+CRIPTchr246845911+0.194496150.80550385
EPAS1chr246525076+CRIPTchr246845911+0.194496150.80550385


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for EPAS1-CRIPT


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:46525076/:46845912)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q99814

.
FUNCTION: Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:P97481}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for EPAS1-CRIPT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for EPAS1-CRIPT


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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Related Drugs for EPAS1-CRIPT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for EPAS1-CRIPT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPAS1C2673187Erythrocytosis, Familial, 44CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneEPAS1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome3CLINGEN
HgeneEPAS1C0004403Autosome Abnormalities1CTD_human
HgeneEPAS1C0007134Renal Cell Carcinoma1CTD_human
HgeneEPAS1C0007621Neoplastic Cell Transformation1CTD_human
HgeneEPAS1C0008625Chromosome Aberrations1CTD_human
HgeneEPAS1C0030421Paraganglioma1GENOMICS_ENGLAND
HgeneEPAS1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneEPAS1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneEPAS1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneEPAS1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneEPAS1C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneEPAS1C2973725Pulmonary arterial hypertension1GENOMICS_ENGLAND
HgeneEPAS1C3203102Idiopathic pulmonary arterial hypertension1GENOMICS_ENGLAND
TgeneC4014339SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES2GENOMICS_ENGLAND;UNIPROT