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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 19960

FusionGeneSummary for LONP2_EGLN3

check button Fusion gene summary
Fusion gene informationFusion gene name: LONP2_EGLN3
Fusion gene ID: 19960
HgeneTgene
Gene symbol

LONP2

EGLN3

Gene ID

83752

112399

Gene namelon peptidase 2, peroxisomalegl-9 family hypoxia inducible factor 3
SynonymsLONP|LONPL|PLON|PSLONHIFP4H3|HIFPH3|PHD3
Cytomap

16q12.1

14q13.1

Type of geneprotein-codingprotein-coding
Descriptionlon protease homolog 2, peroxisomallon protease 2lon protease-like protein 2peroxisomal LON protease likeperoxisomal Lon protease homolog 2egl nine homolog 3HIF-PH3HIF-prolyl hydroxylase 3HPH-1HPH-3egl nine-like protein 3 isoformhypoxia-inducible factor prolyl hydroxylase 3prolyl hydroxylase domain-containing protein 3
Modification date2018052320180522
UniProtAcc

Q86WA8

Q9H6Z9

Ensembl transtripts involved in fusion geneENST00000285737, ENST00000535754, 
ENST00000564259, 
ENST00000250457, 
ENST00000553215, ENST00000547327, 
ENST00000557521, 
Fusion gene scores* DoF score5 X 3 X 4=604 X 3 X 4=48
# samples 44
** MAII scorelog2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LONP2 [Title/Abstract] AND EGLN3 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneEGLN3

GO:0018126

protein hydroxylation

19584355

TgeneEGLN3

GO:0018401

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

11598268


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVCESCTCGA-FU-A3TX-01ALONP2chr16

48304185

+EGLN3chr14

34638852

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5CDS-intronENST00000285737ENST00000250457LONP2chr16

48304185

+EGLN3chr14

34638852

-
5CDS-intronENST00000285737ENST00000553215LONP2chr16

48304185

+EGLN3chr14

34638852

-
5CDS-intronENST00000285737ENST00000547327LONP2chr16

48304185

+EGLN3chr14

34638852

-
5CDS-intronENST00000285737ENST00000557521LONP2chr16

48304185

+EGLN3chr14

34638852

-
5CDS-intronENST00000535754ENST00000250457LONP2chr16

48304185

+EGLN3chr14

34638852

-
5CDS-intronENST00000535754ENST00000553215LONP2chr16

48304185

+EGLN3chr14

34638852

-
5CDS-intronENST00000535754ENST00000547327LONP2chr16

48304185

+EGLN3chr14

34638852

-
5CDS-intronENST00000535754ENST00000557521LONP2chr16

48304185

+EGLN3chr14

34638852

-
intron-intronENST00000564259ENST00000250457LONP2chr16

48304185

+EGLN3chr14

34638852

-
intron-intronENST00000564259ENST00000553215LONP2chr16

48304185

+EGLN3chr14

34638852

-
intron-intronENST00000564259ENST00000547327LONP2chr16

48304185

+EGLN3chr14

34638852

-
intron-intronENST00000564259ENST00000557521LONP2chr16

48304185

+EGLN3chr14

34638852

-

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FusionProtFeatures for LONP2_EGLN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LONP2

Q86WA8

EGLN3

Q9H6Z9

ATP-dependent serine protease that mediates theselective degradation of misfolded and unassembled polypeptides inthe peroxisomal matrix. Necessary for type 2 peroxisome targetingsignal (PTS2)-containing protein processing and facilitatesperoxisome matrix protein import (By similarity). May indirectlyregulate peroxisomal fatty acid beta-oxidation through degradationof the self-processed forms of TYSND1. {ECO:0000255|HAMAP-Rule:MF_03121, ECO:0000269|PubMed:22002062}. 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}.

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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FusionGeneSequence for LONP2_EGLN3


check button 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 LONP2_EGLN3


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
LONP2AMOT, ELAVL1, PEX5, WWOX, OS9, RSPH9, IL17A, DCN, FBXW11, MTMR10, PCDHA12, IL1R2, DKK3, TMOD3, CDC16, MAP7D2, PCDHA4, PCDHA9, SUCLA2, TRIM25EGLN3OS9, 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


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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RelatedDrugs for LONP2_EGLN3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEGLN3Q9H6Z9DB00126Vitamin CEgl nine homolog 3small moleculeapproved|nutraceutical

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RelatedDiseases for LONP2_EGLN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource