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Fusion gene ID: 11129 |
FusionGeneSummary for EGLN3_TERT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EGLN3_TERT | Fusion gene ID: 11129 | Hgene | Tgene | Gene symbol | EGLN3 | TERT | Gene ID | 112399 | 7015 |
| Gene name | egl-9 family hypoxia inducible factor 3 | telomerase reverse transcriptase | |
| Synonyms | HIFP4H3|HIFPH3|PHD3 | CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT | |
| Cytomap | 14q13.1 | 5p15.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | egl nine homolog 3HIF-PH3HIF-prolyl hydroxylase 3HPH-1HPH-3egl nine-like protein 3 isoformhypoxia-inducible factor prolyl hydroxylase 3prolyl hydroxylase domain-containing protein 3 | telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2 | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | Q9H6Z9 | O14746 | |
| Ensembl transtripts involved in fusion gene | ENST00000250457, ENST00000553215, ENST00000547327, ENST00000557521, | ENST00000310581, ENST00000296820, ENST00000334602, ENST00000508104, ENST00000522877, | |
| Fusion gene scores | * DoF score | 2 X 1 X 1=2 | 19 X 3 X 14=798 |
| # samples | 3 | 26 | |
| ** MAII score | log2(3/2*10)=3.90689059560852 | log2(26/798*10)=-1.61787712319389 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EGLN3 [Title/Abstract] AND TERT [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 | EGLN3 | GO:0018126 | protein hydroxylation | 19584355 |
| Hgene | EGLN3 | GO:0018401 | peptidyl-proline hydroxylation to 4-hydroxy-L-proline | 11598268 |
| Tgene | TERT | GO:0001172 | transcription, RNA-templated | 19701182 |
| Tgene | TERT | GO:0006278 | RNA-dependent DNA biosynthetic process | 9398860 |
| Tgene | TERT | GO:0007004 | telomere maintenance via telomerase | 9443919|16043710|17940095|19701182|21531765 |
| Tgene | TERT | GO:0007005 | mitochondrion organization | 21937513 |
| Tgene | TERT | GO:0010629 | negative regulation of gene expression | 11927518 |
| Tgene | TERT | GO:0022616 | DNA strand elongation | 16043710 |
| Tgene | TERT | GO:0030422 | production of siRNA involved in RNA interference | 19701182 |
| Tgene | TERT | GO:0031647 | regulation of protein stability | 24415760|26194824 |
| Tgene | TERT | GO:0032092 | positive regulation of protein binding | 24415760 |
| Tgene | TERT | GO:0032774 | RNA biosynthetic process | 19701182 |
| Tgene | TERT | GO:0051000 | positive regulation of nitric-oxide synthase activity | 11927518 |
| Tgene | TERT | GO:0070200 | establishment of protein localization to telomere | 25589350 |
| Tgene | TERT | GO:0071897 | DNA biosynthetic process | 9398860|19701182 |
| Tgene | TERT | GO:1903704 | negative regulation of production of siRNA involved in RNA interference | 19701182 |
| Tgene | TERT | GO:1904751 | positive regulation of protein localization to nucleolus | 24415760 |
| Tgene | TERT | GO:2000773 | negative regulation of cellular senescence | 11927518 |
| 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 | KIRC | TCGA-BP-4973-01A | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| * 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-3CDS | ENST00000250457 | ENST00000310581 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000250457 | ENST00000296820 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000250457 | ENST00000334602 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000250457 | ENST00000508104 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-intron | ENST00000250457 | ENST00000522877 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000553215 | ENST00000310581 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000553215 | ENST00000296820 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000553215 | ENST00000334602 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000553215 | ENST00000508104 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-intron | ENST00000553215 | ENST00000522877 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000547327 | ENST00000310581 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000547327 | ENST00000296820 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000547327 | ENST00000334602 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000547327 | ENST00000508104 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-intron | ENST00000547327 | ENST00000522877 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000557521 | ENST00000310581 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000557521 | ENST00000296820 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000557521 | ENST00000334602 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000557521 | ENST00000508104 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
| intron-intron | ENST00000557521 | ENST00000522877 | EGLN3 | chr14 | 34487807 | - | TERT | chr5 | 1282739 | - |
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FusionProtFeatures for EGLN3_TERT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EGLN3 | TERT |
| 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. Hydroxylation on the NODD site by EGLN3appears to require prior hydroxylation on the CODD site.Hydroxylated HIFs are then targeted for proteasomal degradationvia the von Hippel-Lindau ubiquitination complex. Under hypoxicconditions, the hydroxylation reaction is attenuated allowing HIFsto escape degradation resulting in their translocation to thenucleus, heterodimerization with HIF1B, and increased expressionof hypoxy-inducible genes. EGLN3 is the most important isozyme inlimiting physiological activation of HIFs (particularly HIF2A) inhypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis.Under normoxia, hydroxylates and regulates the stability of ADRB2.Regulator of cardiomyocyte and neuronal apoptosis. Incardiomyocytes, inhibits the anti-apoptotic effect of BCL2 bydisrupting the BAX-BCL2 complex. In neurons, has a NGF-inducedproapoptotic effect, probably through regulating CASP3 activity.Also essential for hypoxic regulation of neutrophilicinflammation. Plays a crucial role in DNA damage response (DDR) byhydroxylating TELO2, promoting its interaction with ATR which isrequired for activation of the ATR/CHK1/p53 pathway. Targetproteins are preferentially recognized via a LXXLAP motif.{ECO:0000269|PubMed:11595184, ECO:0000269|PubMed:12181324,ECO:0000269|PubMed:16098468, ECO:0000269|PubMed:19584355,ECO:0000269|PubMed:20849813, ECO:0000269|PubMed:20978507,ECO:0000269|PubMed:21317538, ECO:0000269|PubMed:21483450,ECO:0000269|PubMed:21575608, ECO:0000269|PubMed:21620138,ECO:0000269|PubMed:22797300}. | Telomerase is a ribonucleoprotein enzyme essential forthe replication of chromosome termini in most eukaryotes. Activein progenitor and cancer cells. Inactive, or very low activity, innormal somatic cells. Catalytic component of the teleromeraseholoenzyme complex whose main activity is the elongation oftelomeres by acting as a reverse transcriptase that adds simplesequence repeats to chromosome ends by copying a template sequencewithin the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalyticcycle involves primer binding, primer extension and release ofproduct once the template boundary has been reached or nascentproduct translocation followed by further extension. More activeon substrates containing 2 or 3 telomeric repeats. Telomeraseactivity is regulated by a number of factors including telomerasecomplex-associated proteins, chaperones and polypeptide modifiers.Modulates Wnt signaling. Plays important roles in aging andantiapoptosis. {ECO:0000269|PubMed:14963003,ECO:0000269|PubMed:15082768, ECO:0000269|PubMed:15857955,ECO:0000269|PubMed:17026956, ECO:0000269|PubMed:17264120,ECO:0000269|PubMed:17296728, ECO:0000269|PubMed:17548608,ECO:0000269|PubMed:19188162, ECO:0000269|PubMed:19567472,ECO:0000269|PubMed:19571879, ECO:0000269|PubMed:19777057,ECO:0000269|PubMed:9389643}. |
| 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 EGLN3_TERT |
| 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 EGLN3_TERT |
| 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 |
| EGLN3 | OS9, HIF1A, SIAH2, EGLN1, EGLN3, EGLN2, PRPF19, ADRB2, SPRY2, LIMD1, AJUBA, WTIP, EPAS1, ATF4, IKBKB, MAGEA11, PKM, IKBKG, CHUK, MAPK1, MAPK6, MAPK7, HEXIM1, SQSTM1, REL, ABI2, NCAPH2, SERTAD1, FOXJ2, EFHC2, TTC23L, BIRC2, BIRC3, RIPK1, EPOR, TRIM25 | TERT | NCL, MCRS1, SMG6, SMG5, HSP90AA1, XRCC5, XRCC6, TEP1, RELA, AKT1, MTOR, RPS6KB1, PINX1, YWHAZ, YWHAQ, MUS81, PML, MKRN1, NAT10, MDM2, GNL3L, TERF1, PTGES3, POT1, CIB1, STUB1, HSPA1A, DYRK2, UBR5, DDB1, VPRBP, RUVBL1, RUVBL2, TERC, DKC1, SLC7A11, UBE2D3, U2SURP, IREB2, TGFBR2, GLA, SERBP1, DYNLL1, PHF20L1, ATP5B, C19orf40, PFDN1, CCT5, EIF2S1, TIMM21, TUBA1B, PABPC1, ANXA2, DDX51, PBK, STEAP4, ACAA2, ENO1, PPIA, HSPA4, TPP1, TP53, ETV1, ATR, FOXO3, DAXX |
| - 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 EGLN3_TERT |
| 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 | EGLN3 | Q9H6Z9 | DB00126 | Vitamin C | Egl nine homolog 3 | small molecule | approved|nutraceutical |
| Tgene | TERT | O14746 | DB00495 | Zidovudine | Telomerase reverse transcriptase | small molecule | approved |
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RelatedDiseases for EGLN3_TERT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TERT | C3553617 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | 9 | UNIPROT |
| Tgene | TERT | C3151443 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | 6 | UNIPROT |
| Tgene | TERT | C0002874 | Aplastic Anemia | 4 | CTD_human;HPO;UNIPROT |
| Tgene | TERT | C1800706 | Idiopathic Pulmonary Fibrosis | 4 | CTD_human;ORPHANET |
| Tgene | TERT | C2239176 | Liver carcinoma | 4 | CTD_human |
| Tgene | TERT | C0265965 | Dyskeratosis Congenita | 3 | CTD_human;ORPHANET |
| Tgene | TERT | C0017638 | Glioma | 2 | CTD_human |
| Tgene | TERT | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Tgene | TERT | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Tgene | TERT | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Tgene | TERT | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | TERT | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Tgene | TERT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | TERT | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Tgene | TERT | C0010314 | Cri-du-Chat Syndrome | 1 | CTD_human |
| Tgene | TERT | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | TERT | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| Tgene | TERT | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| Tgene | TERT | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | TERT | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
| Tgene | TERT | C0025202 | melanoma | 1 | CTD_human;HPO |
| Tgene | TERT | C0027819 | Neuroblastoma | 1 | CTD_human |
| Tgene | TERT | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Tgene | TERT | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Tgene | TERT | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | TERT | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Tgene | TERT | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | TERT | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | TERT | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | TERT | C1846142 | HOYERAAL-HREIDARSSON SYNDROME | 1 | CTD_human;ORPHANET |
| Tgene | TERT | C1956346 | Coronary Artery Disease | 1 | CTD_human |
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