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Fusion gene ID: 11127 |
FusionGeneSummary for EGLN2_SHOC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EGLN2_SHOC2 | Fusion gene ID: 11127 | Hgene | Tgene | Gene symbol | EGLN2 | SHOC2 | Gene ID | 112398 | 8036 |
| Gene name | egl-9 family hypoxia inducible factor 2 | SHOC2, leucine rich repeat scaffold protein | |
| Synonyms | EIT6|HIF-PH1|HIFPH1|HPH-1|HPH-3|PHD1 | SIAA0862|SOC2|SUR8 | |
| Cytomap | 19q13.2 | 10q25.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | egl nine homolog 2HIF-prolyl hydroxylase 1estrogen-induced tag 6hypoxia-inducible factor prolyl hydroxylase 1prolyl hydroxylase domain-containing protein 1 | leucine-rich repeat protein SHOC-2soc-2 suppressor of clear homolog | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q96KS0 | Q9UQ13 | |
| Ensembl transtripts involved in fusion gene | ENST00000303961, ENST00000406058, ENST00000593726, ENST00000594140, | ENST00000265277, ENST00000369452, ENST00000489390, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 1=9 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EGLN2 [Title/Abstract] AND SHOC2 [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 | EGLN2 | GO:0001666 | response to hypoxia | 11595184 |
| Hgene | EGLN2 | GO:0018401 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 11598268 |
| Hgene | EGLN2 | GO:0045454 | cell redox homeostasis | 11595184 |
| Hgene | EGLN2 | GO:0045732 | positive regulation of protein catabolic process | 11595184 |
| 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 | BU537611 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| * 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 |
| 5CDS-5UTR | ENST00000303961 | ENST00000265277 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000303961 | ENST00000369452 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000303961 | ENST00000489390 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000406058 | ENST00000265277 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000406058 | ENST00000369452 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000406058 | ENST00000489390 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000593726 | ENST00000265277 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000593726 | ENST00000369452 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| 5CDS-5UTR | ENST00000593726 | ENST00000489390 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| intron-5UTR | ENST00000594140 | ENST00000265277 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| intron-5UTR | ENST00000594140 | ENST00000369452 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
| intron-5UTR | ENST00000594140 | ENST00000489390 | EGLN2 | chr19 | 41306897 | + | SHOC2 | chr10 | 112679360 | + |
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FusionProtFeatures for EGLN2_SHOC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EGLN2 | SHOC2 |
| 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 HIF2A. 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. EGLN2 is involvedin regulating hypoxia tolerance and apoptosis in cardiac andskeletal muscle. Also regulates susceptibility to normoxicoxidative neuronal death. Links oxygen sensing to cell cycle andprimary cilia formation by hydroxylating the critical centrosomecomponent CEP192 which promotes its ubiquitination and subsequentproteasomal degradation. Hydroxylates IKBKB, mediating NF-kappaBactivation in hypoxic conditions. Target proteins arepreferentially recognized via a LXXLAP motif.{ECO:0000269|PubMed:11595184, ECO:0000269|PubMed:12039559,ECO:0000269|PubMed:12181324, ECO:0000269|PubMed:16509823,ECO:0000269|PubMed:17114296, ECO:0000269|PubMed:19339211,ECO:0000269|PubMed:23932902}. | Regulatory subunit of protein phosphatase 1 (PP1c) thatacts as a M-Ras/MRAS effector and participates in MAPK pathwayactivation. Upon M-Ras/MRAS activation, targets PP1c tospecifically dephosphorylate the 'Ser-259' inhibitory site of RAF1kinase and stimulate RAF1 activity at specialized signalingcomplexes. {ECO:0000269|PubMed:10783161,ECO:0000269|PubMed:16630891, ECO:0000269|PubMed:25137548}. |
| 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 EGLN2_SHOC2 |
| 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 EGLN2_SHOC2 |
| 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 EGLN2_SHOC2 |
| 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 | EGLN2 | Q96KS0 | DB00126 | Vitamin C | Egl nine homolog 2 | small molecule | approved|nutraceutical |
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RelatedDiseases for EGLN2_SHOC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EGLN2 | C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | 1 | CTD_human |
| Tgene | SHOC2 | C1843181 | NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SHOC2 | C0018500 | Hair Diseases | 1 | CTD_human |
| Tgene | SHOC2 | C0028326 | Noonan Syndrome | 1 | CTD_human |
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