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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:EGLN2-PLD3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: EGLN2-PLD3
	FusionPDB ID: 25497
	FusionGDB2.0 ID: 25497
		Hgene	Tgene
	Gene symbol	EGLN2	PLD3
	Gene ID	100529264	23646
	Gene name	RAB4B-EGLN2 readthrough (NMD candidate)	phospholipase D family member 3
	Synonyms	EGLN2\|EIT-6\|EIT6\|HIF-PH1\|HPH-1\|HPH-3\|PHD1\|RERT-lncRNA	AD19\|HU-K4\|HUK4\|SCA46
	Cytomap	19q13.2	19q13.2
	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	phospholipase D3choline phosphatase 3hindIII K4L homologphosphatidylcholine-hydrolyzing phospholipase D3
	Modification date	20200313	20200329
	UniProtAcc	Q96KS0	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000303961, ENST00000406058, ENST00000593726, ENST00000594140,	ENST00000356508, ENST00000409281, ENST00000409735, ENST00000594085, ENST00000409419, ENST00000409587,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	4 X 2 X 4=32	6 X 8 X 4=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 PLD3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	EGLN2(41307320)-PLD3(40877580), # samples:3
Anticipated loss of major functional domain due to fusion event.	EGLN2-PLD3 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-PLD3 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-PLD3 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-PLD3 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.

* 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	PLD3	GO:0014902	myotube differentiation	22428023

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.

Fusion gene breakpoints across PLD3 (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	LUSC	TCGA-66-2759-01A	EGLN2	chr19	41307320	-	PLD3	chr19	40877580	+
ChimerDB4	LUSC	TCGA-66-2759-01A	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+
ChimerDB4	LUSC	TCGA-66-2759	EGLN2	chr19	41307320	+	PLD3	chr19	40877579	+
ChimerDB4	LUSC	TCGA-66-2759	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+

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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	+	ENST00000409419	PLD3	chr19	40877580	+	2250	1153	163	1947	594
ENST00000303961	EGLN2	chr19	41307320	+	ENST00000409587	PLD3	chr19	40877580	+	2258	1153	163	1947	594
ENST00000406058	EGLN2	chr19	41307320	+	ENST00000409419	PLD3	chr19	40877580	+	2298	1201	211	1995	594
ENST00000406058	EGLN2	chr19	41307320	+	ENST00000409587	PLD3	chr19	40877580	+	2306	1201	211	1995	594
ENST00000593726	EGLN2	chr19	41307320	+	ENST00000409419	PLD3	chr19	40877580	+	2968	1871	881	2665	594
ENST00000593726	EGLN2	chr19	41307320	+	ENST00000409587	PLD3	chr19	40877580	+	2976	1871	881	2665	594
ENST00000303961	EGLN2	chr19	41307320	+	ENST00000409419	PLD3	chr19	40877579	+	2250	1153	163	1947	594
ENST00000303961	EGLN2	chr19	41307320	+	ENST00000409587	PLD3	chr19	40877579	+	2258	1153	163	1947	594
ENST00000406058	EGLN2	chr19	41307320	+	ENST00000409419	PLD3	chr19	40877579	+	2298	1201	211	1995	594
ENST00000406058	EGLN2	chr19	41307320	+	ENST00000409587	PLD3	chr19	40877579	+	2306	1201	211	1995	594
ENST00000593726	EGLN2	chr19	41307320	+	ENST00000409419	PLD3	chr19	40877579	+	2968	1871	881	2665	594
ENST00000593726	EGLN2	chr19	41307320	+	ENST00000409587	PLD3	chr19	40877579	+	2976	1871	881	2665	594

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	ENST00000409419	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+	0.05227295	0.9477271
ENST00000303961	ENST00000409587	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+	0.049051303	0.9509488
ENST00000406058	ENST00000409419	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+	0.044839647	0.9551604
ENST00000406058	ENST00000409587	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+	0.042654514	0.95734555
ENST00000593726	ENST00000409419	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+	0.022708435	0.97729164
ENST00000593726	ENST00000409587	EGLN2	chr19	41307320	+	PLD3	chr19	40877580	+	0.021989021	0.978011
ENST00000303961	ENST00000409419	EGLN2	chr19	41307320	+	PLD3	chr19	40877579	+	0.05227295	0.9477271
ENST00000303961	ENST00000409587	EGLN2	chr19	41307320	+	PLD3	chr19	40877579	+	0.049051303	0.9509488
ENST00000406058	ENST00000409419	EGLN2	chr19	41307320	+	PLD3	chr19	40877579	+	0.044839647	0.9551604
ENST00000406058	ENST00000409587	EGLN2	chr19	41307320	+	PLD3	chr19	40877579	+	0.042654514	0.95734555
ENST00000593726	ENST00000409419	EGLN2	chr19	41307320	+	PLD3	chr19	40877579	+	0.022708435	0.97729164
ENST00000593726	ENST00000409587	EGLN2	chr19	41307320	+	PLD3	chr19	40877579	+	0.021989021	0.978011

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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

>25497_25497_1_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000303961_PLD3_chr19_40877579_ENST00000409419_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_2_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000303961_PLD3_chr19_40877579_ENST00000409587_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_3_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000303961_PLD3_chr19_40877580_ENST00000409419_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_4_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000303961_PLD3_chr19_40877580_ENST00000409587_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_5_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000406058_PLD3_chr19_40877579_ENST00000409419_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_6_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000406058_PLD3_chr19_40877579_ENST00000409587_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_7_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000406058_PLD3_chr19_40877580_ENST00000409419_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_8_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000406058_PLD3_chr19_40877580_ENST00000409587_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_9_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000593726_PLD3_chr19_40877579_ENST00000409419_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_10_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000593726_PLD3_chr19_40877579_ENST00000409587_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_11_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000593726_PLD3_chr19_40877580_ENST00000409419_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

>25497_25497_12_EGLN2-PLD3_EGLN2_chr19_41307320_ENST00000593726_PLD3_chr19_40877580_ENST00000409587_length(amino acids)=594AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ
AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID
DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN

--------------------------------------------------------------

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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/chr19:40877580)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
EGLN2 Q96KS0	.
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
download page
* 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

chr19:40877579

ENST00000303961

89_134

281.0

408.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000406058

89_134

281.0

408.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000593726

89_134

281.0

408.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000303961

89_134

281.0

408.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000406058

89_134

281.0

408.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000593726

89_134

281.0

408.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000303961

225_235

281.0

408.0

Region

Beta(2)beta(3) 'finger-like' loop

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000406058

225_235

281.0

408.0

Region

Beta(2)beta(3) 'finger-like' loop

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000593726

225_235

281.0

408.0

Region

Beta(2)beta(3) 'finger-like' loop

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000303961

225_235

281.0

408.0

Region

Beta(2)beta(3) 'finger-like' loop

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000406058

225_235

281.0

408.0

Region

Beta(2)beta(3) 'finger-like' loop

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000593726

225_235

281.0

408.0

Region

Beta(2)beta(3) 'finger-like' loop

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000356508

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409281

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409419

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409587

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409735

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000356508

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409281

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409419

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409587

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409735

411_437

226.0

491.0

Domain

PLD phosphodiesterase 2

- 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

chr19:40877579

ENST00000303961

278_376

281.0

408.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000406058

278_376

281.0

408.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000593726

278_376

281.0

408.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000594140

278_376

126.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000303961

278_376

281.0

408.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000406058

278_376

281.0

408.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000593726

278_376

281.0

408.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000594140

278_376

126.0

Domain

Fe2OG dioxygenase

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000594140

89_134

126.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000594140

89_134

126.0

Motif

Bipartite nuclear localization signal

Hgene

EGLN2

chr19:41307320

chr19:40877579

ENST00000594140

225_235

126.0

Region

Beta(2)beta(3) 'finger-like' loop

Hgene

EGLN2

chr19:41307320

chr19:40877580

ENST00000594140

225_235

126.0

Region

Beta(2)beta(3) 'finger-like' loop

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000356508

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409281

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409419

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409587

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409735

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000356508

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409281

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409419

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409587

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409735

196_223

226.0

491.0

Domain

PLD phosphodiesterase 1

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000356508

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000356508

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409281

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409281

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409419

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409419

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409587

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409587

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409735

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409735

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000356508

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000356508

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409281

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409281

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409419

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409419

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409587

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409587

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409735

1_38

226.0

491.0

Topological domain

Cytoplasmic

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409735

60_490

226.0

491.0

Topological domain

Lumenal

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000356508

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409281

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409419

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409587

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877579

ENST00000409735

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000356508

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409281

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409419

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409587

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PLD3

chr19:41307320

chr19:40877580

ENST00000409735

39_59

226.0

491.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1262_EGLN2_41307320_PLD3_40877580_1262_EGLN2_41307320_PLD3_40877580_ranked_0.pdb	EGLN2	41307320	41307320	ENST00000409587	PLD3	chr19	40877580	+	MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVKELGVVMYNCSCLARDLTKIFEAYWFLGQ AGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLCPSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAID DGLRRATYERGVKVRLLISCWGHSEPSMRAFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGN	594

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

EGLN2_pLDDT.png

PLD3_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

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
PLD3

- 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-PLD3

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to EGLN2-PLD3

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