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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:EPAS1-B2M (FusionGDB2 ID:HG2034TG567) |
Fusion Gene Summary for EPAS1-B2M |
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Fusion gene information | Fusion gene name: EPAS1-B2M | Fusion gene ID: hg2034tg567 | Hgene | Tgene | Gene symbol | EPAS1 | B2M | Gene ID | 2034 | 567 |
Gene name | endothelial PAS domain protein 1 | beta-2-microglobulin | |
Synonyms | ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 | IMD43 | |
Cytomap | ('EPAS1')('B2M') 2p21 | 15q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | endothelial 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 | beta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | Q99814 | . | |
Ensembl transtripts involved in fusion gene | ENST00000263734, ENST00000467888, | ||
Fusion gene scores | * DoF score | 11 X 9 X 6=594 | 64 X 31 X 17=33728 |
# samples | 12 | 71 | |
** MAII score | log2(12/594*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(71/33728*10)=-5.56998393724517 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EPAS1 [Title/Abstract] AND B2M [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | EPAS1(46609228)-B2M(45010241), # samples:1 | ||
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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | EPAS1 | GO:0001666 | response to hypoxia | 11782478 |
Hgene | EPAS1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
Hgene | EPAS1 | GO:0071456 | cellular response to hypoxia | 11573933 |
Tgene | B2M | GO:0002726 | positive regulation of T cell cytokine production | 24643698 |
Tgene | B2M | GO:0007611 | learning or memory | 26147761 |
Tgene | B2M | GO:0050680 | negative regulation of epithelial cell proliferation | 28213472 |
Tgene | B2M | GO:0050768 | negative regulation of neurogenesis | 26147761 |
Tgene | B2M | GO:0090647 | modulation of age-related behavioral decline | 26147761 |
Tgene | B2M | GO:1900121 | negative regulation of receptor binding | 9465039 |
Tgene | B2M | GO:1990000 | amyloid fibril formation | 28468825 |
Tgene | B2M | GO:2000774 | positive regulation of cellular senescence | 28213472 |
Tgene | B2M | GO:2000978 | negative regulation of forebrain neuron differentiation | 26147761 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | Non-Cancer | TCGA-BR-7851-11A | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
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Fusion Gene ORF analysis for EPAS1-B2M |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-3UTR | ENST00000263734 | ENST00000558401 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
5CDS-3UTR | ENST00000263734 | ENST00000559220 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
5CDS-intron | ENST00000263734 | ENST00000544417 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
5CDS-intron | ENST00000263734 | ENST00000559916 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
intron-3UTR | ENST00000467888 | ENST00000558401 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
intron-3UTR | ENST00000467888 | ENST00000559220 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
intron-intron | ENST00000467888 | ENST00000544417 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
intron-intron | ENST00000467888 | ENST00000559916 | EPAS1 | chr2 | 46609228 | + | B2M | chr15 | 45010241 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EPAS1-B2M |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for EPAS1-B2M |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:46609228/:45010241) - 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. |
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Hgene | Tgene |
EPAS1 | . |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for EPAS1-B2M |
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Fusion Gene PPI Analysis for EPAS1-B2M |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for EPAS1-B2M |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for EPAS1-B2M |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EPAS1 | C2673187 | Erythrocytosis, Familial, 4 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | EPAS1 | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 3 | CLINGEN |
Hgene | EPAS1 | C0004403 | Autosome Abnormalities | 1 | CTD_human |
Hgene | EPAS1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | EPAS1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | EPAS1 | C0008625 | Chromosome Aberrations | 1 | CTD_human |
Hgene | EPAS1 | C0030421 | Paraganglioma | 1 | GENOMICS_ENGLAND |
Hgene | EPAS1 | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Hgene | EPAS1 | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
Hgene | EPAS1 | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
Hgene | EPAS1 | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
Hgene | EPAS1 | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
Hgene | EPAS1 | C2973725 | Pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Hgene | EPAS1 | C3203102 | Idiopathic pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Tgene | C0022658 | Kidney Diseases | 3 | CTD_human | |
Tgene | C0022660 | Kidney Failure, Acute | 3 | CTD_human | |
Tgene | C1565662 | Acute Kidney Insufficiency | 3 | CTD_human | |
Tgene | C2609414 | Acute kidney injury | 3 | CTD_human | |
Tgene | C1855796 | Hypoproteinemia, Hypercatabolic | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0004364 | Autoimmune Diseases | 1 | CTD_human | |
Tgene | C0013221 | Drug toxicity | 1 | CTD_human | |
Tgene | C0018799 | Heart Diseases | 1 | CTD_human | |
Tgene | C0020455 | Hypergammaglobulinemia | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0041755 | Adverse reaction to drug | 1 | CTD_human | |
Tgene | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human | |
Tgene | C0079774 | Peripheral T-Cell Lymphoma | 1 | CTD_human | |
Tgene | C0268389 | Amyloidosis, familial visceral | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C1858266 | Bare Lymphocyte Syndrome, Type I | 1 | ORPHANET | |
Tgene | C4302669 | Autosomal dominant beta2-microglobulinic amyloidosis | 1 | ORPHANET |