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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EGLN3-TERT (FusionGDB2 ID:HG112399TG7015)

Fusion Gene Summary for EGLN3-TERT

check button Fusion gene summary
Fusion gene informationFusion gene name: EGLN3-TERT
Fusion gene ID: hg112399tg7015
HgeneTgene
Gene symbol

EGLN3

TERT

Gene ID

112399

7015

Gene nameegl-9 family hypoxia inducible factor 3telomerase reverse transcriptase
SynonymsHIFP4H3|HIFPH3|PHD3CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT
Cytomap('EGLN3')('TERT')

14q13.1

5p15.33

Type of geneprotein-codingprotein-coding
Descriptionegl nine homolog 3HIF-PH3HIF-prolyl hydroxylase 3HPH-1HPH-3egl nine-like protein 3 isoformhypoxia-inducible factor prolyl hydroxylase 3prolyl hydroxylase domain-containing protein 3telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2
Modification date2020031320200329
UniProtAcc

Q9H6Z9

.
Ensembl transtripts involved in fusion geneENST00000250457, ENST00000547327, 
ENST00000553215, ENST00000557521, 
Fusion gene scores* DoF score7 X 6 X 2=8422 X 7 X 15=2310
# samples 731
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(31/2310*10)=-2.89755273102918
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]

Most frequent breakpointEGLN3(34487807)-TERT(1282739), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneEGLN3

GO:0018126

protein hydroxylation

19584355

HgeneEGLN3

GO:0018401

peptidyl-proline hydroxylation to 4-hydroxy-L-proline

11598268

TgeneTERT

GO:0001172

transcription, RNA-templated

19701182

TgeneTERT

GO:0006278

RNA-dependent DNA biosynthetic process

9398860

TgeneTERT

GO:0007004

telomere maintenance via telomerase

9443919|16043710|17940095|19701182|21531765|29695869

TgeneTERT

GO:0007005

mitochondrion organization

21937513

TgeneTERT

GO:0010629

negative regulation of gene expression

11927518

TgeneTERT

GO:0022616

DNA strand elongation

16043710

TgeneTERT

GO:0030422

production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:0031647

regulation of protein stability

24415760|26194824

TgeneTERT

GO:0032092

positive regulation of protein binding

24415760

TgeneTERT

GO:0051000

positive regulation of nitric-oxide synthase activity

11927518

TgeneTERT

GO:0070200

establishment of protein localization to telomere

25589350

TgeneTERT

GO:0071897

DNA biosynthetic process

9398860|19701182

TgeneTERT

GO:1903704

negative regulation of production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:1904751

positive regulation of protein localization to nucleolus

24415760

TgeneTERT

GO:2000773

negative regulation of cellular senescence

11927518



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4KIRCTCGA-BP-4973-01AEGLN3chr14

34487807

-TERTchr5

1282739

-


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Fusion Gene ORF analysis for EGLN3-TERT

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000250457ENST00000296820EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000250457ENST00000310581EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000250457ENST00000334602EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000250457ENST00000508104EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000547327ENST00000296820EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000547327ENST00000310581EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000547327ENST00000334602EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000547327ENST00000508104EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000553215ENST00000296820EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000553215ENST00000310581EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000553215ENST00000334602EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000553215ENST00000508104EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000557521ENST00000296820EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000557521ENST00000310581EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000557521ENST00000334602EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-3CDSENST00000557521ENST00000508104EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-intronENST00000250457ENST00000522877EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-intronENST00000547327ENST00000522877EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-intronENST00000553215ENST00000522877EGLN3chr14

34487807

-TERTchr5

1282739

-
intron-intronENST00000557521ENST00000522877EGLN3chr14

34487807

-TERTchr5

1282739

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for EGLN3-TERT


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for EGLN3-TERT


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:34487807/:1282739)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EGLN3

Q9H6Z9

.
FUNCTION: Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4 and HIF1A (PubMed:19584355, PubMed:21620138, PubMed:21483450, PubMed:22797300, PubMed:20978507, PubMed:21575608). Target proteins are preferentially recognized via a LXXLAP motif. 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:12181324). 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:12181324). Also hydroxylates HIF2A (PubMed:11595184, PubMed:12181324). Has a preference for the CODD site for both HIF1A and HIF2A (PubMed:11595184, PubMed:12181324). Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site (PubMed:11595184, PubMed:12181324). Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:11595184, PubMed:12181324). 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:12181324). ELGN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis (PubMed:21620138, PubMed:21483450). Under normoxia, hydroxylates and regulates the stability of ADRB2 (PubMed:19584355). Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex (PubMed:20849813). In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity (PubMed:16098468). Also essential for hypoxic regulation of neutrophilic inflammation (PubMed:21317538). Plays a crucial role in DNA damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation of the ATR/CHK1/p53 pathway (PubMed:22797300). Also mediates hydroxylation of ATF4, leading to decreased protein stability of ATF4 (Probable). {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, ECO:0000305|PubMed:17684156}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for EGLN3-TERT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for EGLN3-TERT


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for EGLN3-TERT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneEGLN3Q9H6Z9DB00126Ascorbic acidChaperoneSmall moleculeApproved|Nutraceutical

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Related Diseases for EGLN3-TERT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEGLN3C0023903Liver neoplasms1CTD_human
HgeneEGLN3C0345904Malignant neoplasm of liver1CTD_human
HgeneEGLN3C1527405Erythrocytosis1GENOMICS_ENGLAND
TgeneC3151443DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 211CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3553617PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002874Aplastic Anemia6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0265965Dyskeratosis Congenita5CTD_human;GENOMICS_ENGLAND
TgeneC1800706Idiopathic Pulmonary Fibrosis5CTD_human;ORPHANET
TgeneC4721508Hamman-Rich Disease5CTD_human
TgeneC4721509Usual Interstitial Pneumonia5CTD_human
TgeneC4721952Familial Idiopathic Pulmonary Fibrosis5CTD_human
TgeneC2239176Liver carcinoma4CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute3CTD_human;GENOMICS_ENGLAND
TgeneC1148551X-Linked Dyskeratosis Congenita3CTD_human
TgeneC1956346Coronary Artery Disease3CTD_human;GENOMICS_ENGLAND
TgeneC0017638Glioma2CTD_human
TgeneC0024121Lung Neoplasms2CTD_human
TgeneC0025202melanoma2CTD_human;GENOMICS_ENGLAND
TgeneC0030297Pancreatic Neoplasm2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0242379Malignant neoplasm of lung2CTD_human
TgeneC0259783mixed gliomas2CTD_human
TgeneC0334488Clear cell sarcoma of kidney2ORPHANET
TgeneC0346647Malignant neoplasm of pancreas2CTD_human
TgeneC0348890Aplastic anemia, idiopathic2ORPHANET
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0555198Malignant Glioma2CTD_human
TgeneC1846142HOYERAAL-HREIDARSSON SYNDROME2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3554574MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 92CTD_human;GENOMICS_ENGLAND
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0010054Coronary Arteriosclerosis1CTD_human
TgeneC0010314Cri-du-Chat Syndrome1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023448Lymphoid leukemia1CTD_human
TgeneC0023473Myeloid Leukemia, Chronic1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0024115Lung diseases1GENOMICS_ENGLAND
TgeneC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneC0027022Myeloproliferative disease1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0040136Thyroid Neoplasm1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0085786Hamman-Rich syndrome1ORPHANET
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneC0178416Hypoplastic anemia1CTD_human
TgeneC0206686Adrenocortical carcinoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0242380Libman-Sacks Disease1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0549473Thyroid carcinoma1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1368275Pigmented Basal Cell Carcinoma1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET
TgeneC3151444DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 41GENOMICS_ENGLAND
TgeneC4048328cervical cancer1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721806Carcinoma, Basal Cell1CTD_human