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in Kim Lab

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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:EGLN2-RPL13 (FusionGDB2 ID:HG112398TG6137)

Fusion Gene Summary for EGLN2-RPL13

check button Fusion gene summary
Fusion gene informationFusion gene name: EGLN2-RPL13
Fusion gene ID: hg112398tg6137
HgeneTgene
Gene symbol

EGLN2

RPL13

Gene ID

112398

6137

Gene nameegl-9 family hypoxia inducible factor 2ribosomal protein L13
SynonymsEIT-6|EIT6|HIF-PH1|HIFPH1|HPH-1|HPH-3|PHD1BBC1|D16S444E|D16S44E|L13|SEMDIST
Cytomap('EGLN2')('RPL13')

19q13.2

16q24.3|17p11.2

Type of geneprotein-codingprotein-coding
Descriptionegl nine homolog 2HIF-prolyl hydroxylase 1estrogen-induced tag 6hypoxia-inducible factor prolyl hydroxylase 1prolyl hydroxylase domain-containing protein 160S ribosomal protein L13OK/SW-cl.46breast basic conserved 1breast basic conserved protein 1large ribosomal subunit protein eL13
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000303961, ENST00000406058, 
ENST00000593726, ENST00000594140, 
Fusion gene scores* DoF score4 X 2 X 4=328 X 8 X 3=192
# samples 58
** MAII scorelog2(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

PubMed: EGLN2 [Title/Abstract] AND RPL13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEGLN2(41307320)-RPL13(89629291), # samples:1
Anticipated loss of major functional domain due to fusion event.EGLN2-RPL13 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-RPL13 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-RPL13 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-RPL13 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-RPL13 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
EGLN2-RPL13 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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
HgeneEGLN2

GO:0001666

response to hypoxia

11595184

HgeneEGLN2

GO:0018401

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

11598268|12039559

HgeneEGLN2

GO:0045454

cell redox homeostasis

11595184

HgeneEGLN2

GO:0045732

positive regulation of protein catabolic process

11595184


check buttonFusion 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.
all structure
check buttonFusion gene breakpoints across RPL13 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4THCATCGA-DJ-A1QGEGLN2chr19

41307320

+RPL13chr16

89629291

+


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Fusion Gene ORF analysis for EGLN2-RPL13

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
Frame-shiftENST00000303961ENST00000311528EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000303961ENST00000452368EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000303961ENST00000567815EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000406058ENST00000311528EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000406058ENST00000452368EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000406058ENST00000567815EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000593726ENST00000311528EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000593726ENST00000452368EGLN2chr19

41307320

+RPL13chr16

89629291

+
Frame-shiftENST00000593726ENST00000567815EGLN2chr19

41307320

+RPL13chr16

89629291

+
In-frameENST00000303961ENST00000393099EGLN2chr19

41307320

+RPL13chr16

89629291

+
In-frameENST00000406058ENST00000393099EGLN2chr19

41307320

+RPL13chr16

89629291

+
In-frameENST00000593726ENST00000393099EGLN2chr19

41307320

+RPL13chr16

89629291

+
intron-3CDSENST00000594140ENST00000311528EGLN2chr19

41307320

+RPL13chr16

89629291

+
intron-3CDSENST00000594140ENST00000393099EGLN2chr19

41307320

+RPL13chr16

89629291

+
intron-3CDSENST00000594140ENST00000452368EGLN2chr19

41307320

+RPL13chr16

89629291

+
intron-3CDSENST00000594140ENST00000567815EGLN2chr19

41307320

+RPL13chr16

89629291

+

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)
ENST00000303961EGLN2chr1941307320+ENST00000393099RPL13chr1689629291+281211531631311382
ENST00000406058EGLN2chr1941307320+ENST00000393099RPL13chr1689629291+286012012111359382
ENST00000593726EGLN2chr1941307320+ENST00000393099RPL13chr1689629291+353018718812029382

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
ENST00000303961ENST00000393099EGLN2chr1941307320+RPL13chr1689629291+0.063143750.93685627
ENST00000406058ENST00000393099EGLN2chr1941307320+RPL13chr1689629291+0.0623356920.9376643
ENST00000593726ENST00000393099EGLN2chr1941307320+RPL13chr1689629291+0.045043060.9549569

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Fusion Genomic Features for EGLN2-RPL13


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)
EGLN2chr1941307320+RPL13chr1689629291+2.70E-050.99997306
EGLN2chr1941307320+RPL13chr1689629291+2.70E-050.99997306

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for EGLN2-RPL13


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/chr19:41307320/chr16:89629291)
- 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
..
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}.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
HgeneEGLN2chr19:41307320chr16:89629291ENST00000303961+2689_134281408.0MotifBipartite nuclear localization signal
HgeneEGLN2chr19:41307320chr16:89629291ENST00000406058+2689_134281408.0MotifBipartite nuclear localization signal
HgeneEGLN2chr19:41307320chr16:89629291ENST00000593726+1589_134281408.0MotifBipartite nuclear localization signal
HgeneEGLN2chr19:41307320chr16:89629291ENST00000303961+26225_235281408.0RegionBeta(2)beta(3) 'finger-like' loop
HgeneEGLN2chr19:41307320chr16:89629291ENST00000406058+26225_235281408.0RegionBeta(2)beta(3) 'finger-like' loop
HgeneEGLN2chr19:41307320chr16:89629291ENST00000593726+15225_235281408.0RegionBeta(2)beta(3) 'finger-like' loop

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEGLN2chr19:41307320chr16:89629291ENST00000303961+26278_376281408.0DomainFe2OG dioxygenase
HgeneEGLN2chr19:41307320chr16:89629291ENST00000406058+26278_376281408.0DomainFe2OG dioxygenase
HgeneEGLN2chr19:41307320chr16:89629291ENST00000593726+15278_376281408.0DomainFe2OG dioxygenase
HgeneEGLN2chr19:41307320chr16:89629291ENST00000594140+15278_3760126.0DomainFe2OG dioxygenase
HgeneEGLN2chr19:41307320chr16:89629291ENST00000594140+1589_1340126.0MotifBipartite nuclear localization signal
HgeneEGLN2chr19:41307320chr16:89629291ENST00000594140+15225_2350126.0RegionBeta(2)beta(3) 'finger-like' loop


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Fusion Gene Sequence for EGLN2-RPL13


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.
>25498_25498_1_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000303961_RPL13_chr16_89629291_ENST00000393099_length(transcript)=2812nt_BP=1153nt
GGGCGGGGTATGGCGCGCTGTGCGGCGCAGGGCGGCTGGCACAAACGGCGGCGCCGGGGCCGGAGGAAAAAGCTCGCCACCCTGAAGGGT
CCCTTCCCAAGCCCTTAGGGACCGCAGAGGACTTGGGGACCAGCAAGCAACCCCCAGGGCACGAGAAGAGCTCTTGCTGTCTGCCCTGCC
TCACCCTGCCCCACGCCAGGCCCGGTGGCCCCCAGCTGCATCAAGTGGAGGCGGAGGAGGAGGCGGAGGAGGGTGGCACCATGGGCCCGG
GCGGTGCCCTCCATGCCCGGGGGATGAAGACACTGCTGCCATGGACAGCCCGTGCCAGCCGCAGCCCCTAAGTCAGGCTCTCCCTCAGTT
ACCAGGGTCTTCGTCAGAGCCCTTGGAGCCTGAGCCTGGCCGGGCCAGGATGGGAGTGGAGAGTTACCTGCCCTGTCCCCTGCTCCCCTC
CTACCACTGTCCAGGAGTGCCTAGTGAGGCCTCGGCAGGGAGTGGGACCCCCAGAGCCACAGCCACCTCTACCACTGCCAGCCCTCTTCG
GGACGGTTTTGGCGGGCAGGATGGTGGTGAGCTGCGGCCGCTGCAGAGTGAAGGCGCTGCAGCGCTGGTCACCAAGGGGTGCCAGCGATT
GGCAGCCCAGGGCGCACGGCCTGAGGCCCCCAAACGGAAATGGGCCGAGGATGGTGGGGATGCCCCTTCACCCAGCAAACGGCCCTGGGC
CAGGCAAGAGAACCAGGAGGCAGAGCGGGAGGGTGGCATGAGCTGCAGCTGCAGCAGTGGCAGTGGTGAGGCCAGTGCTGGGCTGATGGA
GGAGGCGCTGCCCTCTGCGCCCGAGCGCCTGGCCCTGGACTATATCGTGCCCTGCATGCGGTACTACGGCATCTGCGTCAAGGACAGCTT
CCTGGGGGCAGCACTGGGCGGTCGCGTGCTGGCCGAGGTGGAGGCCCTCAAACGGGGTGGGCGCCTGCGAGACGGGCAGCTAGTGAGCCA
GAGGGCGATCCCGCCGCGCAGCATCCGTGGGGACCAGATTGCCTGGGTGGAAGGCCATGAACCAGGCTGTCGAAGCATTGGTGCCCTCAT
GGCCCATGTGGACGCCGTCATCCGCCACTGCGCAGGGCGGCTGGGCAGCTATGTCATCAACGGGCGCACCAAGGTCTATAAGAAGGAGAA
AGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACG
GGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGC
TGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGC
TTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACG
GTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAG
CTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATG
CTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGA
TCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACA
GTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGA
GACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGC
TTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCC
CTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCA
GGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTA
GTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTC
TGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTG
CTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTG
GCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGC
CGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAAT
ACAAAAATTAGCTGAGTGGTGA

>25498_25498_1_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000303961_RPL13_chr16_89629291_ENST00000393099_length(amino acids)=382AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVYKKEKARVITEEEKNFKAFASLRMARANA
RLFGIRAKRAKEAAEQDVEKKK

--------------------------------------------------------------
>25498_25498_2_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000406058_RPL13_chr16_89629291_ENST00000393099_length(transcript)=2860nt_BP=1201nt
GAGCGGCCCTTAGGCCCTGCCCCTGTCGCCTACTGCGCTCAGAAGGGGCCTCAGGGCCTGCCCCGGGTTGGGGGCGTTGGGGTGCCCTGG
ATGGGGGCACCTTTATCTCTCGTCCTGTCTCCGGCCACCCTGAAGGGTCCCTTCCCAAGCCCTTAGGGACCGCAGAGGACTTGGGGACCA
GCAAGCAACCCCCAGGGCACGAGAAGAGCTCTTGCTGTCTGCCCTGCCTCACCCTGCCCCACGCCAGGCCCGGTGGCCCCCAGCTGCATC
AAGTGGAGGCGGAGGAGGAGGCGGAGGAGGGTGGCACCATGGGCCCGGGCGGTGCCCTCCATGCCCGGGGGATGAAGACACTGCTGCCAT
GGACAGCCCGTGCCAGCCGCAGCCCCTAAGTCAGGCTCTCCCTCAGTTACCAGGGTCTTCGTCAGAGCCCTTGGAGCCTGAGCCTGGCCG
GGCCAGGATGGGAGTGGAGAGTTACCTGCCCTGTCCCCTGCTCCCCTCCTACCACTGTCCAGGAGTGCCTAGTGAGGCCTCGGCAGGGAG
TGGGACCCCCAGAGCCACAGCCACCTCTACCACTGCCAGCCCTCTTCGGGACGGTTTTGGCGGGCAGGATGGTGGTGAGCTGCGGCCGCT
GCAGAGTGAAGGCGCTGCAGCGCTGGTCACCAAGGGGTGCCAGCGATTGGCAGCCCAGGGCGCACGGCCTGAGGCCCCCAAACGGAAATG
GGCCGAGGATGGTGGGGATGCCCCTTCACCCAGCAAACGGCCCTGGGCCAGGCAAGAGAACCAGGAGGCAGAGCGGGAGGGTGGCATGAG
CTGCAGCTGCAGCAGTGGCAGTGGTGAGGCCAGTGCTGGGCTGATGGAGGAGGCGCTGCCCTCTGCGCCCGAGCGCCTGGCCCTGGACTA
TATCGTGCCCTGCATGCGGTACTACGGCATCTGCGTCAAGGACAGCTTCCTGGGGGCAGCACTGGGCGGTCGCGTGCTGGCCGAGGTGGA
GGCCCTCAAACGGGGTGGGCGCCTGCGAGACGGGCAGCTAGTGAGCCAGAGGGCGATCCCGCCGCGCAGCATCCGTGGGGACCAGATTGC
CTGGGTGGAAGGCCATGAACCAGGCTGTCGAAGCATTGGTGCCCTCATGGCCCATGTGGACGCCGTCATCCGCCACTGCGCAGGGCGGCT
GGGCAGCTATGTCATCAACGGGCGCACCAAGGTCTATAAGAAGGAGAAAGCTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTT
CGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGGCAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAA
GAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTGGGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTG
GGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTTTCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTT
CTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGTTTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGA
CTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCTGTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACC
AGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCTTGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGA
GGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATCACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCT
CAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGTGCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCT
CAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGACCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCA
GTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTTGTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACC
CTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCTGCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAA
AGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGGGTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTC
CGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGTCCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTA
TGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTGTTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCA
CCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCTGCTGCACTCACAGCCACACTTGATACACGATGACACCTTG
CTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGCTACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGA
TCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGC
CGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATACAAAAATTAGCTGAGTGGTGA

>25498_25498_2_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000406058_RPL13_chr16_89629291_ENST00000393099_length(amino acids)=382AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVYKKEKARVITEEEKNFKAFASLRMARANA
RLFGIRAKRAKEAAEQDVEKKK

--------------------------------------------------------------
>25498_25498_3_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000593726_RPL13_chr16_89629291_ENST00000393099_length(transcript)=3530nt_BP=1871nt
TACTGCGCTCAGAAGGGGCCTCAGGGCCTGCCCCGGGTTGGGGGCGTTGGGGTGCCCTGGATGGGGGCACCTTTATCTCTCGTCCTGTCT
CCGGGTGCGTGCACCCTCCTCCGTCCTTTCCTCTGTCGCCGCGGACCCTCTCCCCGAGGGCCCCTCCCGTCGGTCAGTCTCGGGACCTCC
CTTCCGTCTGGGCGTGTGTCCGCCCCCGGCCGGCTTCCTCCCGTCGGGCTCGGGTCGACCCCACCGTCCCGCTCCGCCCCGGGTCCTCCC
TCCCAGCTTCCCTCCGGTCTATTTTTCTGTCTCTGGGCCCCTCGTTCTCTTTGTTTTTGGACTCCCCAGTTTCCTCTGTCTTTTGACCCC
CCCGCCCCCACCCTGACTCTCCCTGGAACCCCCACGTTTCTCGTTGTCTTTCTGGAACGCCGAGGCAGGTCCCTCCTATTTTCCAAACCC
CCTCCTTTCCCACTCCTCCACACCACCCTTTTCTACTCCAGCCCTCCTTCTTCTGTCTTTGGTTACCGCGTCCCACAACCTGCACCACAG
TCCTCTGTCTTAGGGTCATCTACCCAGCCCCTGGCCTCCAGCCTCTCCCTATCACTGCCTCTTATCTGTCAGCGGACTCCCGCACCTCCA
GATTCTCAGGGTCCTCTCCCCGACTTGGCCTCAGGTTTTGGGGGGCCTCTATAGTCAAGTCTGTCCTGGTCGTCTTCCCCACTCCTGCCC
ATACCATCCCGGCTTTCCCCTGCCTGCCTGTCTCTAGTTTCTCTCACATCCCTTTTTTTTTTTCCTTTCTCTAGCCACCCTGAAGGGTCC
CTTCCCAAGCCCTTAGGGACCGCAGAGGACTTGGGGACCAGCAAGCAACCCCCAGGGCACGAGAAGAGCTCTTGCTGTCTGCCCTGCCTC
ACCCTGCCCCACGCCAGGCCCGGTGGCCCCCAGCTGCATCAAGTGGAGGCGGAGGAGGAGGCGGAGGAGGGTGGCACCATGGGCCCGGGC
GGTGCCCTCCATGCCCGGGGGATGAAGACACTGCTGCCATGGACAGCCCGTGCCAGCCGCAGCCCCTAAGTCAGGCTCTCCCTCAGTTAC
CAGGGTCTTCGTCAGAGCCCTTGGAGCCTGAGCCTGGCCGGGCCAGGATGGGAGTGGAGAGTTACCTGCCCTGTCCCCTGCTCCCCTCCT
ACCACTGTCCAGGAGTGCCTAGTGAGGCCTCGGCAGGGAGTGGGACCCCCAGAGCCACAGCCACCTCTACCACTGCCAGCCCTCTTCGGG
ACGGTTTTGGCGGGCAGGATGGTGGTGAGCTGCGGCCGCTGCAGAGTGAAGGCGCTGCAGCGCTGGTCACCAAGGGGTGCCAGCGATTGG
CAGCCCAGGGCGCACGGCCTGAGGCCCCCAAACGGAAATGGGCCGAGGATGGTGGGGATGCCCCTTCACCCAGCAAACGGCCCTGGGCCA
GGCAAGAGAACCAGGAGGCAGAGCGGGAGGGTGGCATGAGCTGCAGCTGCAGCAGTGGCAGTGGTGAGGCCAGTGCTGGGCTGATGGAGG
AGGCGCTGCCCTCTGCGCCCGAGCGCCTGGCCCTGGACTATATCGTGCCCTGCATGCGGTACTACGGCATCTGCGTCAAGGACAGCTTCC
TGGGGGCAGCACTGGGCGGTCGCGTGCTGGCCGAGGTGGAGGCCCTCAAACGGGGTGGGCGCCTGCGAGACGGGCAGCTAGTGAGCCAGA
GGGCGATCCCGCCGCGCAGCATCCGTGGGGACCAGATTGCCTGGGTGGAAGGCCATGAACCAGGCTGTCGAAGCATTGGTGCCCTCATGG
CCCATGTGGACGCCGTCATCCGCCACTGCGCAGGGCGGCTGGGCAGCTATGTCATCAACGGGCGCACCAAGGTCTATAAGAAGGAGAAAG
CTCGAGTCATCACTGAGGAAGAGAAGAATTTCAAAGCCTTCGCTAGTCTCCGTATGGCCCGTGCCAACGCCCGGCTCTTCGGCATACGGG
CAAAAAGAGCCAAGGAAGCCGCAGAACAGGATGTTGAAAAGAAAAAATAAAGCCCTCCTGGGGACTTGGAATCAGTCGGCAGTCATGCTG
GGTCTCCACGTGGTGTGTTTCGTGGGAACAACTGGGCCTGGGATGGGGCTTCACTGCTGTGACTTCCTCCTGCCAGGGGATTTGGGGCTT
TCTTGAAAGACAGTCCAAGCCCTGGATAATGCTTTACTTTCTGTGTTGAAGCACTGTTGGTTGTTTGGTTAGTGACTGATGTAAAACGGT
TTTCTTGTGGGGAGGTTACAGAGGCTGACTTCAGAGTGGACTTGTGTTTTTTCTTTTTAAAGAGGCAAGGTTGGGCTGGTGCTCACAGCT
GTAATCCCAGCACTTTGAGGTTGGCTGGGAGTTCAAGACCAGCCTGGCCAACATGTCAGAACTACTAAAAATAAAGAAATCAGCCATGCT
TGGTGCTGCACACTTGTAGTTGCAGCTCCTGGGAGGCAGAGGTGAGGGATCACTTAACCCAGGAGGCAGAGGCTGCACTGAGCCAGGATC
ACGCCACTGCACTCTAGCCTGGGCAACAGTGAGACTGTCTCAAAAAAAAAAAAAGAGACAGGGTCTTCGGCACCCAGGCTGGAGTACAGT
GCCACAATCATGGCTCACTGCAGTCTTGAACTCATGGCCTCAAGCAGTCCTCCCTCAGCCTCCCAAGTAGAGGGGTTTATAGGCACGAGA
CCCTGCACCCAACCTAGAGTTGCCTTTTTTAAGCAAAGCAGTTTCTAGTTAATGTAGCATCTTGGACTTTGGGGCGTCATTCTTAAGCTT
GTTGTGCCCGGTAACCATGGTCCTCTTGCTCTGATTAACCCTTCCTTCAATGGGCTTCTTCACCCAGACACCAAGGTATGAGATGGCCCT
GCCAAGTGTCGGCCTCTCCTGTTAAACAAAAACATTCTAAAGCCATTGTTCTTGCTTCATGGACAAGAGGCAGCCAGAGAGAGTGCCAGG
GTGCCCTGGTCTGAGCTGGCATCCCCATGTCTTCTGTGTCCGAGGGCAGCATGGTTTCTCGTGCAGTGCTCAGACACAGCCTGCCCTAGT
CCTACCAGCTCACAGCAGCACCTGCTCTCCTTGGCAGCTATGGCCATGACAACCCCAGAGAAGCAGCTTCAGGGACCGAGTCAGATTCTG
TTTTGTCTACATGCCTCTGCCGGGTGCCGGTATTGAGGCACCCAGGGAGCTGTTACTGGCGTGGAAATAGGTGATGCTGCTACCTCTGCT
GCTGCACTCACAGCCACACTTGATACACGATGACACCTTGCTTGTTTGGAAACATCTAAACATCTAGTAGATGACTTGCAGGCTGTTGGC
TACCAGTTTCCTGTCTGAGGTGTATATGTTAACTTCGTGATCAGTTTGTATGTTTGGGACTCTTGTCCTATGTAAAGTTAAGGTGGGCCG
GGTGCAGTGGCTCACGCCTGTAATCCTAACACTGGGAGGCCGAGGCGGGTGGATCACCTGATGGTGAAACCTCATCTCTACTGAAAATAC
AAAAATTAGCTGAGTGGTGA

>25498_25498_3_EGLN2-RPL13_EGLN2_chr19_41307320_ENST00000593726_RPL13_chr16_89629291_ENST00000393099_length(amino acids)=382AA_BP=330
MLSALPHPAPRQARWPPAASSGGGGGGGGGWHHGPGRCPPCPGDEDTAAMDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLP
CPLLPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRKWAEDGGDAPSP
SKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRD
GQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKVYKKEKARVITEEEKNFKAFASLRMARANA
RLFGIRAKRAKEAAEQDVEKKK

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Fusion Gene PPI Analysis for EGLN2-RPL13


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 EGLN2-RPL13


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

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Related Diseases for EGLN2-RPL13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEGLN2C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome1CLINGEN
HgeneEGLN2C1861063TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)1CTD_human
HgeneEGLN2C4551637Erythrocytosis familial, 11GENOMICS_ENGLAND
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC1260899Anemia, Diamond-Blackfan1GENOMICS_ENGLAND
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human