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Fusion gene ID: 11711 |
FusionGeneSummary for EPAS1_PLP1 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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. |
![]() * 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 |
![]() (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 |
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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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RelatedDrugs for EPAS1_PLP1 |
![]() (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 |
![]() (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 |