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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ERN2-EARS2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ERN2-EARS2
FusionPDB ID: 27447
FusionGDB2.0 ID: 27447
HgeneTgene
Gene symbol

ERN2

EARS2

Gene ID

10595

124454

Gene nameendoplasmic reticulum to nucleus signaling 2glutamyl-tRNA synthetase 2, mitochondrial
SynonymsIRE1-BETA|IRE1b|IRE2p|hIRE2pCOXPD12|MSE1|gluRS|mtGlnRS
Cytomap

16p12.2

16p12.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase/endoribonuclease IRE2ER to nucleus signalling 2IRE1 betaIRE1, S. cerevisiae, homolog ofendoplasmic reticulum to nucleus signalling 2inositol-requiring 1 betainositol-requiring protein 2probable glutamate--tRNA ligase, mitochondrialglutamate tRNA ligase 2, mitochondrialglutamate--tRNA ligaseprobable glutamyl-tRNA synthetase, mitochondrial
Modification date2020031320200313
UniProtAcc

Q76MJ5

Q5JPH6

Ensembl transtripts involved in fusion geneENST idsENST00000256797, ENST00000457008, 
ENST00000563232, ENST00000564501, 
ENST00000564987, ENST00000449606, 
ENST00000563459, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 6 X 3=902 X 2 X 2=8
# samples 62
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: ERN2 [Title/Abstract] AND EARS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ERN2(23713711)-EARS2(23556024), # samples:1
Anticipated loss of major functional domain due to fusion event.ERN2-EARS2 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.
ERN2-EARS2 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.
ERN2-EARS2 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.
ERN2-EARS2 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneERN2

GO:0006468

protein phosphorylation

11175748

HgeneERN2

GO:0016075

rRNA catabolic process

11175748

TgeneEARS2

GO:0006424

glutamyl-tRNA aminoacylation

19805282

TgeneEARS2

GO:0070127

tRNA aminoacylation for mitochondrial protein translation

19805282


check buttonFusion gene breakpoints across ERN2 (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 EARS2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-CG-4305-01AERN2chr16

23713711

-EARS2chr16

23556024

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000457008ERN2chr1623713711-ENST00000449606EARS2chr1623556024-47541120392396785
ENST00000457008ERN2chr1623713711-ENST00000563459EARS2chr1623556024-46581120392396785
ENST00000256797ERN2chr1623713711-ENST00000449606EARS2chr1623556024-502813941392670843
ENST00000256797ERN2chr1623713711-ENST00000563459EARS2chr1623556024-493213941392670843

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
ENST00000457008ENST00000449606ERN2chr1623713711-EARS2chr1623556024-0.002411250.99758875
ENST00000457008ENST00000563459ERN2chr1623713711-EARS2chr1623556024-0.0028762330.9971238
ENST00000256797ENST00000449606ERN2chr1623713711-EARS2chr1623556024-0.0049623480.9950376
ENST00000256797ENST00000563459ERN2chr1623713711-EARS2chr1623556024-0.0054622330.9945378

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Fusion Amino Acid Sequences


check button 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

>27447_27447_1_ERN2-EARS2_ERN2_chr16_23713711_ENST00000256797_EARS2_chr16_23556024_ENST00000449606_length(amino acids)=843AA_BP=1
MGREDAAGSVMRRAGIGEDSRLGLQAQPGAEPSPGRAGTERSLGGTQGPGQPCSCPGAMASAVRGSRPWPRLGLQLQFAALLLGTLSPQV
HTLRPENLLLVSTLDGSLHALSKQTGDLKWTLRDDPVIEGPMYVTEMAFLSDPADGSLYILGTQKQQGLMKLPFTIPELVHASPCRSSDG
VFYTGRKQDAWFVVDPESGETQMTLTTEGPSTPRLYIGRTQYTVTMHDPRAPALRWNTTYRRYSAPPMDGSPGKYMSHLASCGMGLLLTV
DPGSGTVLWTQDLGVPVMGVYTWHQDGLRQLPHLTLARDTLHFLALRWGHIRLPASGPRDTATLFSTLDTQLLMTLYVGKDETGFYVSKA
LVHTGVALVPRGLTLAPADGPTTDEVTLQVSGEREGSPSTAVRYPSGSVALPSQWLLIGIPPDESPRRGGPAGPYQQSQRLELYAQATEA
LLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIM
KSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDI
ITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTKYSNVMKLLRM

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>27447_27447_2_ERN2-EARS2_ERN2_chr16_23713711_ENST00000256797_EARS2_chr16_23556024_ENST00000563459_length(amino acids)=843AA_BP=1
MGREDAAGSVMRRAGIGEDSRLGLQAQPGAEPSPGRAGTERSLGGTQGPGQPCSCPGAMASAVRGSRPWPRLGLQLQFAALLLGTLSPQV
HTLRPENLLLVSTLDGSLHALSKQTGDLKWTLRDDPVIEGPMYVTEMAFLSDPADGSLYILGTQKQQGLMKLPFTIPELVHASPCRSSDG
VFYTGRKQDAWFVVDPESGETQMTLTTEGPSTPRLYIGRTQYTVTMHDPRAPALRWNTTYRRYSAPPMDGSPGKYMSHLASCGMGLLLTV
DPGSGTVLWTQDLGVPVMGVYTWHQDGLRQLPHLTLARDTLHFLALRWGHIRLPASGPRDTATLFSTLDTQLLMTLYVGKDETGFYVSKA
LVHTGVALVPRGLTLAPADGPTTDEVTLQVSGEREGSPSTAVRYPSGSVALPSQWLLIGIPPDESPRRGGPAGPYQQSQRLELYAQATEA
LLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIRFRLEQVVPAFQDLVYGWNRHEVASVEGDPVIM
KSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLLNRDGSKLSKRQGDVFLEHFAADGFLPDSLLDI
ITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQRRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVE
RILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSMSLTQDMLNGELKKLSEGLEGTKYSNVMKLLRM

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>27447_27447_3_ERN2-EARS2_ERN2_chr16_23713711_ENST00000457008_EARS2_chr16_23556024_ENST00000449606_length(amino acids)=785AA_BP=0
MASAVRGSRPWPRLGLQLQFAALLLGTLSPQVHTLRPENLLLVSTLDGSLHALSKQTGDLKWTLRDDPVIEGPMYVTEMAFLSDPADGSL
YILGTQKQQGLMKLPFTIPELVHASPCRSSDGVFYTGRKQDAWFVVDPESGETQMTLTTEGPSTPRLYIGRTQYTVTMHDPRAPALRWNT
TYRRYSAPPMDGSPGKYMSHLASCGMGLLLTVDPGSGTVLWTQDLGVPVMGVYTWHQDGLRQLPHLTLARDTLHFLALRWGHIRLPASGP
RDTATLFSTLDTQLLMTLYVGKDETGFYVSKALVHTGVALVPRGLTLAPADGPTTDEVTLQVSGEREGSPSTAVRYPSGSVALPSQWLLI
GIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIR
FRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLL
NRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQ
RRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSM

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

>27447_27447_4_ERN2-EARS2_ERN2_chr16_23713711_ENST00000457008_EARS2_chr16_23556024_ENST00000563459_length(amino acids)=785AA_BP=0
MASAVRGSRPWPRLGLQLQFAALLLGTLSPQVHTLRPENLLLVSTLDGSLHALSKQTGDLKWTLRDDPVIEGPMYVTEMAFLSDPADGSL
YILGTQKQQGLMKLPFTIPELVHASPCRSSDGVFYTGRKQDAWFVVDPESGETQMTLTTEGPSTPRLYIGRTQYTVTMHDPRAPALRWNT
TYRRYSAPPMDGSPGKYMSHLASCGMGLLLTVDPGSGTVLWTQDLGVPVMGVYTWHQDGLRQLPHLTLARDTLHFLALRWGHIRLPASGP
RDTATLFSTLDTQLLMTLYVGKDETGFYVSKALVHTGVALVPRGLTLAPADGPTTDEVTLQVSGEREGSPSTAVRYPSGSVALPSQWLLI
GIPPDESPRRGGPAGPYQQSQRLELYAQATEALLKTGAAYPCFCSPQRLELLKKEALRNHQTPRYDNRCRNMSQEQVAQKLAKDPKPAIR
FRLEQVVPAFQDLVYGWNRHEVASVEGDPVIMKSDGFPTYHLACVVDDHHMGISHVLRGSEWLVSTAKHLLLYQALGWQPPHFAHLPLLL
NRDGSKLSKRQGDVFLEHFAADGFLPDSLLDIITNCGSGFAENQMGRTLPELITQFNLTQVTCHSALLDLEKLPEFNRLHLQRLVSNESQ
RRQLVGKLQVLVEEAFGCQLQNRDVLNPVYVERILLLRQGHICRLQDLVSPVYSYLWTRPAVGRAQLDAISEKVDVIAKRVLGLLERSSM

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Fusion Protein Functional Features


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/chr16:23713711/chr16:23556024)
- 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
ERN2

Q76MJ5

EARS2

Q5JPH6

FUNCTION: Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins. {ECO:0000269|PubMed:11175748}.FUNCTION: Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu). {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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneEARS2chr16:23713711chr16:23556024ENST0000044960619284_28898.33333333333333524.0MotifNote='KMSKS' region
TgeneEARS2chr16:23713711chr16:23556024ENST00000563459110284_28898.333333333333331205.0MotifNote='KMSKS' region
TgeneEARS2chr16:23713711chr16:23556024ENST0000044960619228_23298.33333333333333524.0RegionGlutamate binding
TgeneEARS2chr16:23713711chr16:23556024ENST00000563459110228_23298.333333333333331205.0RegionGlutamate binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneERN2chr16:23713711chr16:23556024ENST00000256797-1022520_781408.3333333333333975.0DomainProtein kinase
HgeneERN2chr16:23713711chr16:23556024ENST00000256797-1022784_912408.3333333333333975.0DomainKEN
HgeneERN2chr16:23713711chr16:23556024ENST00000256797-1022526_534408.3333333333333975.0Nucleotide bindingATP
HgeneERN2chr16:23713711chr16:23556024ENST00000256797-102235_430408.3333333333333975.0Topological domainLumenal
HgeneERN2chr16:23713711chr16:23556024ENST00000256797-1022452_926408.3333333333333975.0Topological domainCytoplasmic
HgeneERN2chr16:23713711chr16:23556024ENST00000256797-1022431_451408.3333333333333975.0TransmembraneHelical
TgeneEARS2chr16:23713711chr16:23556024ENST000004496061945_5398.33333333333333524.0MotifNote='HIGH' region
TgeneEARS2chr16:23713711chr16:23556024ENST0000056345911045_5398.333333333333331205.0MotifNote='HIGH' region
TgeneEARS2chr16:23713711chr16:23556024ENST000004496061940_4298.33333333333333524.0RegionGlutamate binding
TgeneEARS2chr16:23713711chr16:23556024ENST0000056345911040_4298.333333333333331205.0RegionGlutamate binding


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ERN2
EARS2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ERN2-EARS2


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

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Related Diseases to ERN2-EARS2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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