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Fusion gene ID: 11711 |
FusionGeneSummary for EPAS1_PLP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPAS1_PLP1 | Fusion gene ID: 11711 | Hgene | Tgene | Gene symbol | EPAS1 | PLP1 | Gene ID | 2034 | 5354 |
| Gene name | endothelial PAS domain protein 1 | proteolipid protein 1 | |
| Synonyms | ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 | GPM6C|HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2 | |
| Cytomap | 2p21 | Xq22.2 | |
| 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 | myelin proteolipid proteinlipophilinmajor myelin proteolipid protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q99814 | P60201 | |
| Ensembl transtripts involved in fusion gene | ENST00000263734, ENST00000467888, | ENST00000418604, ENST00000303958, ENST00000361621, ENST00000466486, | |
| Fusion gene scores | * DoF score | 9 X 8 X 3=216 | 9 X 8 X 2=144 |
| # samples | 9 | 9 | |
| ** MAII score | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/144*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EPAS1 [Title/Abstract] AND PLP1 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | DA387913 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5UTR-5UTR | ENST00000263734 | ENST00000418604 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| 5UTR-5UTR | ENST00000263734 | ENST00000303958 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| 5UTR-5UTR | ENST00000263734 | ENST00000361621 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| 5UTR-intron | ENST00000263734 | ENST00000466486 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| intron-5UTR | ENST00000467888 | ENST00000418604 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| intron-5UTR | ENST00000467888 | ENST00000303958 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| intron-5UTR | ENST00000467888 | ENST00000361621 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
| intron-intron | ENST00000467888 | ENST00000466486 | EPAS1 | chr2 | 46524725 | + | PLP1 | chrX | 103031798 | + |
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FusionProtFeatures for EPAS1_PLP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPAS1 | PLP1 |
| 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}. | This is the major myelin protein from the centralnervous system. It plays an important role in the formation ormaintenance of the multilamellar structure of myelin. |
| Retention 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 . * 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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FusionGeneSequence for EPAS1_PLP1 |
| 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_PLP1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EPAS1_PLP1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EPAS1_PLP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EPAS1 | C2673187 | Erythrocytosis, Familial, 4 | 4 | CTD_human;UNIPROT |
| 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 |
| Tgene | PLP1 | C0205711 | Pelizaeus-Merzbacher Disease | 31 | CTD_human;HPO;UNIPROT |
| Tgene | PLP1 | C1839264 | SPASTIC PARAPLEGIA 2, X-LINKED (disorder) | 9 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PLP1 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Tgene | PLP1 | C0009171 | Cocaine Abuse | 2 | PSYGENET |
| Tgene | PLP1 | C2673482 | Increased susceptibility to schizophrenia | 1 | PSYGENET |
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