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Fusion gene ID: 4876 |
FusionGeneSummary for C1orf27_EGLN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C1orf27_EGLN1 | Fusion gene ID: 4876 | Hgene | Tgene | Gene symbol | C1orf27 | EGLN1 | Gene ID | 54583 |
| Gene name | egl-9 family hypoxia inducible factor 1 | ||
| Synonyms | C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6 | ||
| Cytomap | 1q42.2 | ||
| Type of gene | 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 | ||
| Modification date | 20180527 | ||
| UniProtAcc | Q9GZT9 | ||
| Ensembl transtripts involved in fusion gene | ENST00000367470, ENST00000419367, ENST00000287859, ENST00000432021, ENST00000461662, | ENST00000366641, ENST00000476717, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 3 X 3=45 |
| # samples | 1 | 5 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/45*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: C1orf27 [Title/Abstract] AND EGLN1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Tgene | EGLN1 | GO:0001666 | response to hypoxia | 16956324 |
| Tgene | EGLN1 | GO:0018401 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 11598268 |
| Tgene | EGLN1 | GO:0032364 | oxygen homeostasis | 16956324 |
| Tgene | EGLN1 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 16956324 |
| Tgene | EGLN1 | GO:0071731 | response to nitric oxide | 21601578 |
| 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 |
| TCGA | LD | STAD | TCGA-BR-6458-01A | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| * 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 |
| In-frame | ENST00000367470 | ENST00000366641 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| 5CDS-5UTR | ENST00000367470 | ENST00000476717 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| In-frame | ENST00000419367 | ENST00000366641 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| 5CDS-5UTR | ENST00000419367 | ENST00000476717 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| In-frame | ENST00000287859 | ENST00000366641 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| 5CDS-5UTR | ENST00000287859 | ENST00000476717 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| In-frame | ENST00000432021 | ENST00000366641 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| 5CDS-5UTR | ENST00000432021 | ENST00000476717 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| intron-3CDS | ENST00000461662 | ENST00000366641 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
| intron-5UTR | ENST00000461662 | ENST00000476717 | C1orf27 | chr1 | 186352288 | + | EGLN1 | chr1 | 231509845 | - |
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FusionProtFeatures for C1orf27_EGLN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C1orf27 | EGLN1 |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | 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 |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000287859 | + | 3 | 14 | 432_452 | 78 | 455 | Transmembrane | Helical |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000287859 | + | 3 | 14 | 82_102 | 78 | 455 | Transmembrane | Helical |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000367470 | + | 3 | 13 | 432_452 | 78 | 432 | Transmembrane | Helical |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000367470 | + | 3 | 13 | 82_102 | 78 | 432 | Transmembrane | Helical |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000419367 | + | 3 | 13 | 432_452 | 78 | 423 | Transmembrane | Helical |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000419367 | + | 3 | 13 | 82_102 | 78 | 423 | Transmembrane | Helical |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000432021 | + | 2 | 12 | 432_452 | 78 | 432 | Transmembrane | Helical |
| Hgene | >C1orf27 | chr1:186352288 | chr1:231509845 | ENST00000432021 | + | 2 | 12 | 82_102 | 78 | 432 | Transmembrane | Helical |
| Tgene | EGLN1 | chr1:186352288 | chr1:231509845 | ENST00000366641 | - | 0 | 5 | 291_392 | 297 | 427 | Domain | Fe2OG dioxygenase |
| Tgene | EGLN1 | chr1:186352288 | chr1:231509845 | ENST00000366641 | - | 0 | 5 | 241_251 | 297 | 427 | Region | Beta(2)beta(3) 'finger-like' loop |
| Tgene | EGLN1 | chr1:186352288 | chr1:231509845 | ENST00000366641 | - | 0 | 5 | 6_20 | 297 | 427 | Region | Note=Required for nuclear export |
| Tgene | EGLN1 | chr1:186352288 | chr1:231509845 | ENST00000366641 | - | 0 | 5 | 21_58 | 297 | 427 | Zinc finger | MYND-type |
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FusionGeneSequence for C1orf27_EGLN1 |
| 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. |
| >In-frame_C1orf27_ENST00000367470_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA >In-frame_C1orf27_ENST00000419367_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA >In-frame_C1orf27_ENST00000287859_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA >In-frame_C1orf27_ENST00000432021_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_208aa MGRTYIVEETVGQYLSNINLQGKAFVSGLLIGQCSSQKDYVILATRTPPKEEQSENLKHPKAKLDNLDEEWATEHACQAMVACYPGNGTG YVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_C1orf27_ENST00000367470_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT >In-frame_C1orf27_ENST00000419367_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT >In-frame_C1orf27_ENST00000287859_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT >In-frame_C1orf27_ENST00000432021_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_624nt ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_C1orf27_ENST00000367470_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3520nt CGTCATCAATCTGCGCCACCTGACTCCCAAGTCCCTGGCTTTGGAGTGGGAAGTGAGGTGTGGGAAGTAGGTCGCTTTCTGATGAATTCA GTGGCAGTGAATTGAGACCGGAGGGAATCTGGCCCCTAGAGGCTGGTACTTGGGCCCGAAACCCCCATCTCCGGCGGAGAGACCGTCCGA GGTAATTGTCTGCCACGAGTGCACATTCTGAAAACAGGAGATTTTAGTTCCTAAAAATGGGAAGAACCTACATTGTAGAAGAGACTGTTG GCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTAATAGGACAGTGTTCGTCACAAAAGGATTATGTGA TTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCCAAAGCTAAGTTGGATAACTTGGATGAAGAATGGG CCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAGATG GAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATACTTCGAATTTTTCCAGAAGGCAAAG CCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATG CTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAAAAAGGTGTGA GGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGCAATACCCCACTTCACCTACAATATT GTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGCATTTTAATAAGGAAACAGAAACAAC TTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAAATCTGTGATTGCTTACAGGAGGAAG ATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTTTTTCATTCTTATATTTTGCCAGATC TGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTTTTCTATATTAGGTACAATTTATCTA AACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCTGTTCATACTATTAAATTTTGCCCTA AAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGAAAAGGAGCACTTTAATTACAACTGA AAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTTTTTGACATTGTCAATAACGAAACCT AATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACACAAGAAGAGTTTAAATTTTTTTGTT TTGTTTTGTTTTTTTGAGACAGTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGTGCATTCTTGGCTCACTGCAACCTCCGCCTCCCAG GTTCAAGCAATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACTGCAGGCACACACCACCATGCCTGACTAATTTTTGTATGTTTAGTAG AGACGGGGTTTTGCCATGTTGCCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGACTGGCACTAAGTGAACTTGAGATTA TCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGATGTAGACAATAATGTCCCATTTCTAA GTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCTAATACTGTGATCTATCTGATCTGCA GACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTGTGGTGTTACTGACGGAATGTGCAGT AACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAAGATGCTTAGCTTAGAAAAAAACAAA ACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGGAAGGAATATTAGAAAATCACACAAG GCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGCTTTTTAGCAAAACCTAAAGGGTGGT ATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTTGATCTTCTTTGCCAAAATGTGAGTA TACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATTTGAGACCTTTTCTATGGGAAGCTCA GTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAAGCCAACAGTGGACTTAGGATGGGAT TGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTTTTCCTCGCCCATATTCAGTTTTGTT CTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCCAACCCAGGAGCGCAAGTTGTCTTTG CCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGGTTAGTAGAAATTGTTTTATGTTGAT GGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCATTCAAATGTGTACCTCTACAGTTGT AAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTTTTGGAAAAGTTTATATACTCTCTTA GGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGTTAGTGGGACTATTAACTTGTCACCA AGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTAAAGATAAAGCTTCATAATGCTGTTT TTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGGATTCATATACAGATAGACTATAAAG TCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAAAGCTAATCTAATTAAAAAGATGTATAAATGTTGT >In-frame_C1orf27_ENST00000419367_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3455nt AGTAGGTCGCTTTCTGATGAATTCAGTGGCAGTGAATTGAGACCGGAGGGAATCTGGCCCCTAGAGGCTGGTACTTGGGCCCGAAACCCC CATCTCCGGCGGAGAGACCGTCCGAGGTAATTGTCTGCCACGAGTGCACATTCTGAAAACAGGAGATTTTAGTTCCTAAAAATGGGAAGA ACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTAATAGGACAG TGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCCAAAGCTAAG TTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGT CATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATA CTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAAC CCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAA TATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGC AATACCCCACTTCACCTACAATATTGTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGC ATTTTAATAAGGAAACAGAAACAACTTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAA ATCTGTGATTGCTTACAGGAGGAAGATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTT TTTCATTCTTATATTTTGCCAGATCTGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTT TTCTATATTAGGTACAATTTATCTAAACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCT GTTCATACTATTAAATTTTGCCCTAAAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGA AAAGGAGCACTTTAATTACAACTGAAAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTT TTTGACATTGTCAATAACGAAACCTAATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACA CAAGAAGAGTTTAAATTTTTTTGTTTTGTTTTGTTTTTTTGAGACAGTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGTGCATTCTTG GCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACTGCAGGCACACACCACCATGCC TGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTGCCATGTTGCCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGA CTGGCACTAAGTGAACTTGAGATTATCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGAT GTAGACAATAATGTCCCATTTCTAAGTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCT AATACTGTGATCTATCTGATCTGCAGACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTG TGGTGTTACTGACGGAATGTGCAGTAACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAA GATGCTTAGCTTAGAAAAAAACAAAACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGG AAGGAATATTAGAAAATCACACAAGGCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGC TTTTTAGCAAAACCTAAAGGGTGGTATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTT GATCTTCTTTGCCAAAATGTGAGTATACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATT TGAGACCTTTTCTATGGGAAGCTCAGTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAA GCCAACAGTGGACTTAGGATGGGATTGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTT TTCCTCGCCCATATTCAGTTTTGTTCTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCC AACCCAGGAGCGCAAGTTGTCTTTGCCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGG TTAGTAGAAATTGTTTTATGTTGATGGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCA TTCAAATGTGTACCTCTACAGTTGTAAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTT TTGGAAAAGTTTATATACTCTCTTAGGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGT TAGTGGGACTATTAACTTGTCACCAAGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTA AAGATAAAGCTTCATAATGCTGTTTTTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGG ATTCATATACAGATAGACTATAAAGTCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAAAGCTAATCT >In-frame_C1orf27_ENST00000287859_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3409nt AGGGAATCTGGCCCCTAGAGGCTGGTACTTGGGCCCGAAACCCCCATCTCCGGCGGAGAGACCGTCCGAGGTAATTGTCTGCCACGAGTG CACATTCTGAAAACAGGAGATTTTAGTTCCTAAAAATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAA ATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTAATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCAC CCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCCAAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGG CCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATAT ATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAAC CCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTG TTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTT CAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGCAATACCCCACTTCACCTACAATATTGTTAACTATTTGTTAACTTGT GAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGCATTTTAATAAGGAAACAGAAACAACTTTTTGTGTTGCATCAAACAG AAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAAATCTGTGATTGCTTACAGGAGGAAGATAAGCTACTAATTGAAAATG GTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTTTTTCATTCTTATATTTTGCCAGATCTGTTATCTAGCTGAGTTCATT TCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTTTTCTATATTAGGTACAATTTATCTAAACTGAATTGAGAAAAAATTA CAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCTGTTCATACTATTAAATTTTGCCCTAAAAGACCTCTTAATAATGATT GTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGAAAAGGAGCACTTTAATTACAACTGAAAAATCAGATTGTTTTGTAGT CCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTTTTTGACATTGTCAATAACGAAACCTAATTGTAAAACAGTCACCATT TACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACACAAGAAGAGTTTAAATTTTTTTGTTTTGTTTTGTTTTTTTGAGACA GTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGTGCATTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATCCTCCCACCT CAGCCTCCCAACTAGCTGGGACTGCAGGCACACACCACCATGCCTGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTGCCATGTTG CCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGACTGGCACTAAGTGAACTTGAGATTATCCTCAGCTTCAAGTTCCTAA GATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGATGTAGACAATAATGTCCCATTTCTAAGTCTTTTCCTTTTGCTTCTCC TTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCTAATACTGTGATCTATCTGATCTGCAGACAAGAACCTTGTCTCTGTT GAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTGTGGTGTTACTGACGGAATGTGCAGTAACTCCTCAGATATCTGTTAA GGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAAGATGCTTAGCTTAGAAAAAAACAAAACAGATGCAAAATCAGATAAT TTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGGAAGGAATATTAGAAAATCACACAAGGCCTCACATACATGTTATTTA AAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGCTTTTTAGCAAAACCTAAAGGGTGGTATCCATATTTTGCGTGAATTA TGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTTGATCTTCTTTGCCAAAATGTGAGTATACAGAAATTTTCTGTATATT TCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATTTGAGACCTTTTCTATGGGAAGCTCAGTAATTTTTATTAAAAGATTG CCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAAGCCAACAGTGGACTTAGGATGGGATTGAATGTTCAGTATAGTGATC TCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTTTTCCTCGCCCATATTCAGTTTTGTTCTACTTCCTCCCCTTCCTTCC AGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCCAACCCAGGAGCGCAAGTTGTCTTTGCCATCTGGTCTATAGTACAGT GCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGGTTAGTAGAAATTGTTTTATGTTGATGGGAGGTTTGTTTGATTGTCA AAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCATTCAAATGTGTACCTCTACAGTTGTAAAAAGTATTAGATTCTACTA TCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTTTTGGAAAAGTTTATATACTCTCTTAGGAATCATTGTGAAAAGATCA AGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGTTAGTGGGACTATTAACTTGTCACCAAGCAGGACTCTATTTCAAACA AAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTAAAGATAAAGCTTCATAATGCTGTTTTTATTCAACACATTAACCAGC TGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGGATTCATATACAGATAGACTATAAAGTCATGTAATTTGAAAAGCAGT >In-frame_C1orf27_ENST00000432021_chr1_186352288_+_EGLN1_ENST00000366641_chr1_231509845_-_3284nt ATGGGAAGAACCTACATTGTAGAAGAGACTGTTGGCCAGTATCTTTCAAACATAAATCTCCAAGGAAAGGCTTTTGTCTCTGGCCTTTTA ATAGGACAGTGTTCGTCACAAAAGGATTATGTGATTCTTGCCACTAGAACGCCACCCAAAGAGGAGCAAAGTGAGAACCTCAAACATCCC AAAGCTAAGTTGGATAACTTGGATGAAGAATGGGCCACAGAACATGCCTGCCAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGT TATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGT GGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGAC CGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCT AAAGTAAAATATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTT TGATCCAGCAATACCCCACTTCACCTACAATATTGTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAA CCAGTTCGCATTTTAATAAGGAAACAGAAACAACTTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGAT CAACTTCAAATCTGTGATTGCTTACAGGAGGAAGATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTG TAGAATTTTTTTCATTCTTATATTTTGCCAGATCTGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTG GGATAATTTTTCTATATTAGGTACAATTTATCTAAACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTT TGTAAACCTGTTCATACTATTAAATTTTGCCCTAAAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTT AAAATAAGAAAAGGAGCACTTTAATTACAACTGAAAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGC TGCTTTTTTTTTGACATTGTCAATAACGAAACCTAATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGG AAAAAGACACAAGAAGAGTTTAAATTTTTTTGTTTTGTTTTGTTTTTTTGAGACAGTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGT GCATTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACTGCAGGCACACAC CACCATGCCTGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTTGCCATGTTGCCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAA CTAAAGTGACTGGCACTAAGTGAACTTGAGATTATCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTAT CCTCTAGATGTAGACAATAATGTCCCATTTCTAAGTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGT TTTTTTCCTAATACTGTGATCTATCTGATCTGCAGACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAA ACTGAAGTGTGGTGTTACTGACGGAATGTGCAGTAACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCT GTACTGAAAGATGCTTAGCTTAGAAAAAAACAAAACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTT TAAACAAGGAAGGAATATTAGAAAATCACACAAGGCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACT TTCCTAGGCTTTTTAGCAAAACCTAAAGGGTGGTATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATC TCTGTCCTTGATCTTCTTTGCCAAAATGTGAGTATACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTG TATTCAATTTGAGACCTTTTCTATGGGAAGCTCAGTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTG TGTAGTGAAGCCAACAGTGGACTTAGGATGGGATTGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTT TATTGTTTTTTCCTCGCCCATATTCAGTTTTGTTCTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTC TGCCAGCCCAACCCAGGAGCGCAAGTTGTCTTTGCCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCT TTTTTAGGGTTAGTAGAAATTGTTTTATGTTGATGGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCC CTGTTGTCATTCAAATGTGTACCTCTACAGTTGTAAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATT GTATATTTTTTGGAAAAGTTTATATACTCTCTTAGGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTC ATTTCATGTTAGTGGGACTATTAACTTGTCACCAAGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAA TCCTGGTTAAAGATAAAGCTTCATAATGCTGTTTTTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAG ATTTTCAGGATTCATATACAGATAGACTATAAAGTCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAA |
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FusionGenePPI for C1orf27_EGLN1 |
| 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 |
| C1orf27 | GRB2, FAM177A1, ATM, UBXN4, UFSP2, CYLD | EGLN1 | POLR2A, ING4, OSR1, HIF1A, EPAS1, HIST1H3A, OS9, SIAH2, EGLN1, EGLN3, SPRY2, SRC, FKBP8, LIMD1, VHL, MAGEA11, MAGEA9, PKM, KRAS, ZNF281, FKBP5, PLD1, RFPL4B, PEX19, SNUPN, CBWD1, CBWD2, MKS1, PLD2, GPLD1, RHOBTB3, PTGES3, FKBP4, HSP90AA1, HSP90AB1, N6AMT2, AKT1, AKT2 |
| - 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 C1orf27_EGLN1 |
| 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 |
| Tgene | EGLN1 | Q9GZT9 | DB01592 | Iron | Egl nine homolog 1 | small molecule | approved |
| Tgene | EGLN1 | Q9GZT9 | DB00126 | Vitamin C | Egl nine homolog 1 | small molecule | approved|nutraceutical |
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RelatedDiseases for C1orf27_EGLN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EGLN1 | C1853286 | Erythrocytosis, Familial, 3 | 2 | CTD_human;UNIPROT |
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