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Fusion Protein:EGLN2-RPL13 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: EGLN2-RPL13 | FusionPDB ID: 25498 | FusionGDB2.0 ID: 25498 | Hgene | Tgene | Gene symbol | EGLN2 | RPL13 | Gene ID | 100529264 | 28998 |
| Gene name | RAB4B-EGLN2 readthrough (NMD candidate) | mitochondrial ribosomal protein L13 | |
| Synonyms | EGLN2|EIT-6|EIT6|HIF-PH1|HPH-1|HPH-3|PHD1|RERT-lncRNA | L13|L13A|L13mt|RPL13|RPML13 | |
| Cytomap | 19q13.2 | 8q24.12 | |
| Type of gene | ncRNA | protein-coding | |
| Description | Egl nine homolog 2Estrogen-induced tag 6HIF-prolyl hydroxylase 1Hypoxia-inducible factor prolyl hydroxylase 1Prolyl hydroxylase domain-containing protein 1RAB4B-EGLN2 readthrough (non-protein coding)RAB4B-EGLN2 readthrough long non-coding RNA | 39S ribosomal protein L13, mitochondrialMRP-L13mitochondrial large ribosomal subunit protein uL13m | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q96KS0 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000303961, ENST00000406058, ENST00000593726, ENST00000594140, | ENST00000311528, ENST00000452368, ENST00000567815, ENST00000393099, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 2 X 4=32 | 8 X 8 X 3=192 |
| # samples | 5 | 8 | |
| ** MAII score | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: EGLN2 [Title/Abstract] AND RPL13 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | EGLN2(41307320)-RPL13(89629291), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | EGLN2-RPL13 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EGLN2-RPL13 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EGLN2-RPL13 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EGLN2-RPL13 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EGLN2-RPL13 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. EGLN2-RPL13 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. | ||
| * 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 |
| Fusion gene breakpoints across EGLN2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across RPL13 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | THCA | TCGA-DJ-A1QG | EGLN2 | chr19 | 41307320 | + | RPL13 | chr16 | 89629291 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000303961 | EGLN2 | chr19 | 41307320 | + | ENST00000393099 | RPL13 | chr16 | 89629291 | + | 2812 | 1153 | 163 | 1311 | 382 |
| ENST00000406058 | EGLN2 | chr19 | 41307320 | + | ENST00000393099 | RPL13 | chr16 | 89629291 | + | 2860 | 1201 | 211 | 1359 | 382 |
| ENST00000593726 | EGLN2 | chr19 | 41307320 | + | ENST00000393099 | RPL13 | chr16 | 89629291 | + | 3530 | 1871 | 881 | 2029 | 382 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000303961 | ENST00000393099 | EGLN2 | chr19 | 41307320 | + | RPL13 | chr16 | 89629291 | + | 0.06314375 | 0.93685627 |
| ENST00000406058 | ENST00000393099 | EGLN2 | chr19 | 41307320 | + | RPL13 | chr16 | 89629291 | + | 0.062335692 | 0.9376643 |
| ENST00000593726 | ENST00000393099 | EGLN2 | chr19 | 41307320 | + | RPL13 | chr16 | 89629291 | + | 0.04504306 | 0.9549569 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >25498_25498_1_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000303961_RPL13_chr16_89629291_ENST00000393099_length(amino acids)=382AA_BP=330 MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVYKKEKARVITEEEKNFKAFASLRMARANA -------------------------------------------------------------- >25498_25498_2_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000406058_RPL13_chr16_89629291_ENST00000393099_length(amino acids)=382AA_BP=330 MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVYKKEKARVITEEEKNFKAFASLRMARANA -------------------------------------------------------------- >25498_25498_3_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000593726_RPL13_chr16_89629291_ENST00000393099_length(amino acids)=382AA_BP=330 MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVYKKEKARVITEEEKNFKAFASLRMARANA -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:41307320/chr16:89629291) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EGLN2 | . |
| FUNCTION: Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as ATF4, IKBKB, CEP192 and HIF1A (PubMed:11595184, PubMed:12039559, PubMed:15925519, PubMed:16509823, PubMed:17114296, PubMed:23932902). Target proteins are preferentially recognized via a LXXLAP motif (PubMed:11595184, PubMed:12039559, PubMed:15925519). Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins (PubMed:11595184, PubMed:12039559, PubMed:12181324, PubMed:15925519, PubMed:19339211). Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A (PubMed:11595184, PubMed:12039559, PubMed:12181324, PubMed:15925519). Also hydroxylates HIF2A (PubMed:11595184, PubMed:12039559, PubMed:15925519). Has a preference for the CODD site for both HIF1A and HIF2A (PubMed:11595184, PubMed:12039559, PubMed:15925519). Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:11595184, PubMed:12039559, PubMed:15925519). Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes (PubMed:11595184, PubMed:12039559, PubMed:15925519). EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle (PubMed:11595184, PubMed:12039559, PubMed:15925519). Also regulates susceptibility to normoxic oxidative neuronal death (PubMed:11595184, PubMed:12039559, PubMed:15925519). Links oxygen sensing to cell cycle and primary cilia formation by hydroxylating the critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation (PubMed:23932902). Hydroxylates IKBKB, mediating NF-kappa-B activation in hypoxic conditions (PubMed:17114296). Also mediates hydroxylation of ATF4, leading to decreased protein stability of ATF4 (By similarity). {ECO:0000250|UniProtKB:Q91YE2, ECO:0000269|PubMed:11595184, ECO:0000269|PubMed:12039559, ECO:0000269|PubMed:12181324, ECO:0000269|PubMed:15925519, ECO:0000269|PubMed:16509823, ECO:0000269|PubMed:17114296, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:23932902}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| 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. |
| - 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 |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000303961 | + | 2 | 6 | 89_134 | 281.0 | 408.0 | Motif | Bipartite nuclear localization signal |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000406058 | + | 2 | 6 | 89_134 | 281.0 | 408.0 | Motif | Bipartite nuclear localization signal |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000593726 | + | 1 | 5 | 89_134 | 281.0 | 408.0 | Motif | Bipartite nuclear localization signal |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000303961 | + | 2 | 6 | 225_235 | 281.0 | 408.0 | Region | Beta(2)beta(3) 'finger-like' loop |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000406058 | + | 2 | 6 | 225_235 | 281.0 | 408.0 | Region | Beta(2)beta(3) 'finger-like' loop |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000593726 | + | 1 | 5 | 225_235 | 281.0 | 408.0 | Region | Beta(2)beta(3) 'finger-like' loop |
| - 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 |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000303961 | + | 2 | 6 | 278_376 | 281.0 | 408.0 | Domain | Fe2OG dioxygenase |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000406058 | + | 2 | 6 | 278_376 | 281.0 | 408.0 | Domain | Fe2OG dioxygenase |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000593726 | + | 1 | 5 | 278_376 | 281.0 | 408.0 | Domain | Fe2OG dioxygenase |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000594140 | + | 1 | 5 | 278_376 | 0 | 126.0 | Domain | Fe2OG dioxygenase |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000594140 | + | 1 | 5 | 89_134 | 0 | 126.0 | Motif | Bipartite nuclear localization signal |
| Hgene | EGLN2 | chr19:41307320 | chr16:89629291 | ENST00000594140 | + | 1 | 5 | 225_235 | 0 | 126.0 | Region | Beta(2)beta(3) 'finger-like' loop |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| EGLN2 | |
| RPL13 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to EGLN2-RPL13 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to EGLN2-RPL13 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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