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Fusion gene ID: 11123 |
FusionGeneSummary for EGLN1_NRP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EGLN1_NRP1 | Fusion gene ID: 11123 | Hgene | Tgene | Gene symbol | EGLN1 | NRP1 | Gene ID | 54583 | 8829 |
| Gene name | egl-9 family hypoxia inducible factor 1 | neuropilin 1 | |
| Synonyms | C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6 | BDCA4|CD304|NP1|NRP|VEGF165R | |
| Cytomap | 1q42.2 | 10p11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | egl nine homolog 1HIF-prolyl hydroxylase 2egl nine-like protein 1hypoxia-inducible factor prolyl hydroxylase 2prolyl hydroxylase domain-containing protein 2zinc finger MYND domain-containing protein 6 | neuropilin-1transmembrane receptorvascular endothelial cell growth factor 165 receptor | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q9GZT9 | O14786 | |
| Ensembl transtripts involved in fusion gene | ENST00000366641, ENST00000476717, | ENST00000374875, ENST00000265371, ENST00000374867, ENST00000395995, ENST00000374821, ENST00000374822, ENST00000374823, ENST00000374816, ENST00000432372, | |
| Fusion gene scores | * DoF score | 5 X 3 X 4=60 | 5 X 5 X 2=50 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EGLN1 [Title/Abstract] AND NRP1 [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 | EGLN1 | GO:0001666 | response to hypoxia | 16956324 |
| Hgene | EGLN1 | GO:0018401 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 11598268 |
| Hgene | EGLN1 | GO:0032364 | oxygen homeostasis | 16956324 |
| Hgene | EGLN1 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 16956324 |
| Hgene | EGLN1 | GO:0071731 | response to nitric oxide | 21601578 |
| Tgene | NRP1 | GO:0051894 | positive regulation of focal adhesion assembly | 24863063 |
| 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 | BU150658 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| * 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 |
| intron-intron | ENST00000366641 | ENST00000374875 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000265371 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000374867 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000395995 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000374821 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000374822 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000374823 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000374816 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000366641 | ENST00000432372 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000374875 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000265371 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000374867 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000395995 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000374821 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000374822 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000374823 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000374816 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
| intron-intron | ENST00000476717 | ENST00000432372 | EGLN1 | chr1 | 231525140 | - | NRP1 | chr10 | 33477667 | - |
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FusionProtFeatures for EGLN1_NRP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EGLN1 | NRP1 |
| Cellular oxygen sensor that catalyzes, under normoxicconditions, the post-translational formation of 4-hydroxyprolinein hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates aspecific proline found in each of the oxygen-dependent degradation(ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A.Also hydroxylates HIF2A. Has a preference for the CODD site forboth HIF1A and HIF1B. Hydroxylated HIFs are then targeted forproteasomal degradation via the von Hippel-Lindau ubiquitinationcomplex. Under hypoxic conditions, the hydroxylation reaction isattenuated allowing HIFs to escape degradation resulting in theirtranslocation to the nucleus, heterodimerization with HIF1B, andincreased expression of hypoxy-inducible genes. EGLN1 is the mostimportant isozyme under normoxia and, through regulating thestability of HIF1, involved in various hypoxia-influencedprocesses such as angiogenesis in retinal and cardiacfunctionality. Target proteins are preferentially recognized via aLXXLAP motif. {ECO:0000269|PubMed:11595184,ECO:0000269|PubMed:12181324, ECO:0000269|PubMed:12351678,ECO:0000269|PubMed:15897452, ECO:0000269|PubMed:19339211,ECO:0000269|PubMed:21792862, ECO:0000269|PubMed:25129147}. |
| 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 EGLN1_NRP1 |
| 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 EGLN1_NRP1 |
| 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 EGLN1_NRP1 |
| 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 |
| Hgene | EGLN1 | Q9GZT9 | DB01592 | Iron | Egl nine homolog 1 | small molecule | approved |
| Hgene | EGLN1 | Q9GZT9 | DB00126 | Vitamin C | Egl nine homolog 1 | small molecule | approved|nutraceutical |
| Tgene | NRP1 | O14786 | DB00039 | Palifermin | Neuropilin-1 | biotech | approved |
| Tgene | NRP1 | O14786 | DB04895 | Pegaptanib | Neuropilin-1 | biotech | approved|investigational |
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RelatedDiseases for EGLN1_NRP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EGLN1 | C1853286 | Erythrocytosis, Familial, 3 | 2 | CTD_human;UNIPROT |
| Tgene | NRP1 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | NRP1 | C0023895 | Liver diseases | 1 | CTD_human |
| Tgene | NRP1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Tgene | NRP1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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