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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:ERN1-DHRSX (FusionGDB2 ID:HG2081TG207063)

Fusion Gene Summary for ERN1-DHRSX

check button Fusion gene summary
Fusion gene informationFusion gene name: ERN1-DHRSX
Fusion gene ID: hg2081tg207063
HgeneTgene
Gene symbol

ERN1

DHRSX

Gene ID

2081

207063

Gene nameendoplasmic reticulum to nucleus signaling 1dehydrogenase/reductase X-linked
SynonymsIRE1|IRE1P|IRE1a|hIRE1pCXorf11|DHRS5X|DHRS5Y|DHRSXY|DHRSY|SDR46C1|SDR7C6
Cytomap('ERN1')('DHRSX')

17q23.3

Xp22.33 and Yp11.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase/endoribonuclease IRE1ER to nucleus signalling 1inositol-requiring 1inositol-requiring enzyme 1inositol-requiring protein 1ire1-alphaprotein kinase/endoribonucleasedehydrogenase/reductase SDR family member on chromosome Xdehydrogenase/reductase (SDR family) X chromosomedehydrogenase/reductase (SDR family) X-linkeddehydrogenase/reductase (SDR family) Y-linkedshort chain dehydrogenase/reductase family 46C member 1
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000433197, ENST00000577567, 
ENST00000606895, 
Fusion gene scores* DoF score7 X 9 X 7=44117 X 16 X 8=2176
# samples 1017
** MAII scorelog2(10/441*10)=-2.1407786557828
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/2176*10)=-3.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERN1 [Title/Abstract] AND DHRSX [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERN1(62149340)-DHRSX(2134988), # samples:1
Anticipated loss of major functional domain due to fusion event.ERN1-DHRSX 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.
ERN1-DHRSX 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
HgeneERN1

GO:0001935

endothelial cell proliferation

23529610

HgeneERN1

GO:0006468

protein phosphorylation

9637683

HgeneERN1

GO:0007257

activation of JUN kinase activity

10650002

HgeneERN1

GO:0033120

positive regulation of RNA splicing

11779464|19622636

HgeneERN1

GO:0034620

cellular response to unfolded protein

19328063

HgeneERN1

GO:0034976

response to endoplasmic reticulum stress

10650002

HgeneERN1

GO:0035924

cellular response to vascular endothelial growth factor stimulus

23529610

HgeneERN1

GO:0036289

peptidyl-serine autophosphorylation

20103773

HgeneERN1

GO:0036498

IRE1-mediated unfolded protein response

9637683|11779465|19328063|29198525

HgeneERN1

GO:0046777

protein autophosphorylation

9637683|19328063

HgeneERN1

GO:0070054

mRNA splicing, via endonucleolytic cleavage and ligation

11779464|19328063|19622636|21317875

HgeneERN1

GO:0071333

cellular response to glucose stimulus

20103773

HgeneERN1

GO:0098787

mRNA cleavage involved in mRNA processing

21317875

HgeneERN1

GO:1901142

insulin metabolic process

20103773


check buttonFusion gene breakpoints across ERN1 (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 DHRSX (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
ChimerDB4OVTCGA-25-1317ERN1chr17

62149340

-DHRSXchrY

2134988

-


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Fusion Gene ORF analysis for ERN1-DHRSX

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-intronENST00000433197ENST00000464935ERN1chr17

62149340

-DHRSXchrY

2134988

-
5UTR-3CDSENST00000577567ENST00000334651ERN1chr17

62149340

-DHRSXchrY

2134988

-
5UTR-intronENST00000577567ENST00000464935ERN1chr17

62149340

-DHRSXchrY

2134988

-
In-frameENST00000433197ENST00000334651ERN1chr17

62149340

-DHRSXchrY

2134988

-
intron-3CDSENST00000606895ENST00000334651ERN1chr17

62149340

-DHRSXchrY

2134988

-
intron-intronENST00000606895ENST00000464935ERN1chr17

62149340

-DHRSXchrY

2134988

-

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)
ENST00000433197ERN1chr1762149340-ENST00000334651DHRSXchrY2134988-2704574271178383

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
ENST00000433197ENST00000334651ERN1chr1762149340-DHRSXchrY2134988-0.0015907930.9984092

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Fusion Genomic Features for ERN1-DHRSX


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)

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

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Fusion Protein Features for ERN1-DHRSX


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/chr17:62149340/chrY:2134988)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622571_832159978.0DomainProtein kinase
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622835_963159978.0DomainKEN
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11571_832071.0DomainProtein kinase
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11835_963071.0DomainKEN
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622577_585159978.0Nucleotide bindingATP
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622643_645159978.0Nucleotide bindingATP
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622690_693159978.0Nucleotide bindingATP
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11577_585071.0Nucleotide bindingATP
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11643_645071.0Nucleotide bindingATP
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11690_693071.0Nucleotide bindingATP
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622906_907159978.0RegionInteracts with hydroxy-aryl-aldehyde inhibitors
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11906_907071.0RegionInteracts with hydroxy-aryl-aldehyde inhibitors
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-62219_443159978.0Topological domainLumenal
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622465_977159978.0Topological domainCytoplasmic
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-1119_443071.0Topological domainLumenal
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11465_977071.0Topological domainCytoplasmic
HgeneERN1chr17:62149340chrY:2134988ENST00000433197-622444_464159978.0TransmembraneHelical
HgeneERN1chr17:62149340chrY:2134988ENST00000606895-11444_464071.0TransmembraneHelical
TgeneDHRSXchr17:62149340chrY:2134988ENST000003346513747_71129331.0Nucleotide bindingNAD or NADP


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Fusion Gene Sequence for ERN1-DHRSX


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.
>27440_27440_1_ERN1-DHRSX_ERN1_chr17_62149340_ENST00000433197_DHRSX_chrY_2134988_ENST00000334651_length(transcript)=2704nt_BP=574nt
GTCCGCTGAGGCTCGGTCACCGCCTCGCTGTCGTCGCGGCGCCCCCGCCCCGTCCTCTGTCCGTACCGCCCCCGGAGCCAGGGCCGAGTC
CTCGCCATGCCGGCCCGGCGGCTGCTGCTGCTGCTGACGCTGCTGCTGCCCGGCCTCGGGATTTTTGGAAGTACCAGCACAGTGACGCTT
CCTGAAACCTTGTTGTTTGTGTCAACGCTGGATGGAAGTTTGCATGCTGTCAGCAAGAGGACAGGCTCAATCAAATGGACTTTAAAAGAA
GATCCAGTCCTGCAGGTCCCAACACATGTGGAAGAGCCTGCCTTTCTCCCAGATCCTAATGATGGCAGCCTGTATACGCTTGGAAGCAAG
AATAATGAAGGCCTGACGAAACTTCCTTTTACCATCCCAGAATTGGTGCAGGCATCCCCATGCCGAAGTTCAGATGGAATCCTCTACATG
GGTAAAAAGCAGGACATCTGGTATGTTATTGACCTCCTGACCGGAGAGAAGCAGCAGACTTTGTCATCGGCCTTTGCAGATAGTCTCTGC
CCATCAACCTCTCTTCTGTATCTTGGGCGAACAGCTGGGGTGATGATGGTCCCTCAGAGGAAAACCAGAGATGGATTCGAAGAACATTTC
GGCCTGAACTACCTAGGGCACTTCCTGCTGACCAACCTTCTCTTGGATACGCTGAAAGAGTCTGGGTCCCCTGGCCACAGTGCGAGGGTG
GTCACCGTCTCCTCTGCCACCCATTACGTCGCTGAGCTGAACATGGATGACCTTCAGAGCAGTGCCTGCTACTCACCCCACGCAGCCTAC
GCCCAGAGCAAGCTGGCCCTTGTCCTGTTCACCTACCACCTCCAGCGGCTGCTGGCGGCTGAGGGAAGCCACGTGACCGCCAACGTGGTG
GACCCCGGGGTGGTCAACACGGACGTCTACAAGCACGTGTTCTGGGCCACCCGTCTGGCGAAGAAGCTTCTCGGCTGGTTGCTTTTCAAG
ACCCCCGATGAAGGAGCGTGGACTTCCATCTACGCAGCAGTCACCCCAGAGCTGGAAGGAGTTGGTGGCCATTACCTATACAACGAGAAA
GAGACCAAGTCCCTCCACGTCACCTACAACCAGAAACTGCAGCAGCAGCTGTGGTCTAAGAGTTGTGAGATGACTGGGGTCCTTGATGTG
ACCCTGTGATATCCTGTCTCAGGATAGCTGCTGCCCCAAGAAACACATTGCACCTGCCAATAGCTTGTGGGTCTGTGAAGACTGCGGTGT
TTGAGTTTCTCACACCCACCTGCCCACAGGGCTCTGTCCTCTAGTTTTGAGACAGCTGCCTCAACCTCTGCAGAACTTCAAGAAGCCAAA
TAAACATTTTGGAGGATAATCACCCCAAGTGGTCTTCAACCATAAACTTTGTGATTCCAAAGTGCCCAGTTGTCACAGGTGCCATAAATA
ATTACATTTTCCAACATAAATGTGCCATTTTCCTTGCCGCGTTAATACAACTGAGTACAAAAGTTCCAAGAGAGATGCTCTCTTTTCAGG
GGCTGCAATGTCCTCTCTGAGACCTAGTGGTGGATGAGGTCTCCTGTTTGATTTTGTTCCTGCACTCACTCATTTTTCCAGAGACCCAGC
TGTGATTCACAGGTGTCAGACATGGGGAGGTGTGAGCCTTGCTTGCTACAGCCTGTAGGATGAGTTTGACGTGGCCAGCAGCACCATCTG
GTCAACCTCATTCCAGAATGGCACAGTCACAAGTGAAGCATGCCACTGTCAAATCCGAGAATGTAAACCGCTGAACAGCTATGGATCAAA
TGGTAGCCCTCAAAAGATATGTTCATGCCCTAACCCTCAGAACCTATAAATATTACTTTATTTGGAAAAGAATCTTTGCAGATAGAATTA
AGAATTTTGAGATGGGTCATTATGGATCATCCCAGTGAACCTAATGCCATCACGAGGGTTCTTATCAGAGACAGGTAGAGGGAGATTTGA
GTACAGAAGACAAGATATTCGTGTGATGATGCAGACAGAGACTGGAGTGATGCCACCACAAGCCAAGCAATGCCTGGAGCCACCAGGAGC
TGGGACAGGCAGGAAGGATTCTCCCTTATACCCCTCAGAGCAATCTTGGCCCCTCTGACGTCTTGACTTTAGACTTCTGGTCCCCAGAAC
GGAGAGAGAATAAATCTTTCTTGTTTTAAGGCTCCAACAAATTGGTAGTCACTTGTTACAGCAACCACAGGAAATGTATACAGCTTCTGA
TACTTCTGAAAACCTCACACAGCCAAAGGGTACATCCTTGGTATAGAGGCTCACTCTTACTCACCAGCCAGGCAAGGAAGGCTCAATCCT
TTGGTGTTAGAGAGATAGATGTTGGGTTTTCAAATTTCAACATAGAGAAATCAGTCATTTGCAATGCTTTTGAGAAAGTACTGTGTATAC
CCTACGAGCCTGCACTCCTTATGTGTGAGACTGATGACCATTGGTTGGCTTATTATCCATTCCACTAAGTGACAAAATCCCACTGACTAT
TCAAATCCAGGCTCCTGGCATGCCTGTACCTTAGAATCACAACCAGCTGCAATTCCAGGATGGAGTTCAAACTAATTGTGGGGGCATGTG
CTTCTTACATGACTGCTAGATTGTTCCCAGATGGGGAAGGTTGCCCTGATAAGCAACTTAAATGAAAATAATAAATGTATTGTTTGGCCT

>27440_27440_1_ERN1-DHRSX_ERN1_chr17_62149340_ENST00000433197_DHRSX_chrY_2134988_ENST00000334651_length(amino acids)=383AA_BP=182
MSSRRPRPVLCPYRPRSQGRVLAMPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKEDPVLQVPTH
VEEPAFLPDPNDGSLYTLGSKNNEGLTKLPFTIPELVQASPCRSSDGILYMGKKQDIWYVIDLLTGEKQQTLSSAFADSLCPSTSLLYLG
RTAGVMMVPQRKTRDGFEEHFGLNYLGHFLLTNLLLDTLKESGSPGHSARVVTVSSATHYVAELNMDDLQSSACYSPHAAYAQSKLALVL
FTYHLQRLLAAEGSHVTANVVDPGVVNTDVYKHVFWATRLAKKLLGWLLFKTPDEGAWTSIYAAVTPELEGVGGHYLYNEKETKSLHVTY

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Fusion Gene PPI Analysis for ERN1-DHRSX


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 ERN1-DHRSX


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 ERN1-DHRSX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERN1C0014544Epilepsy1CTD_human
HgeneERN1C0019193Hepatitis, Toxic1CTD_human
HgeneERN1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneERN1C0086237Epilepsy, Cryptogenic1CTD_human
HgeneERN1C0236018Aura1CTD_human
HgeneERN1C0751111Awakening Epilepsy1CTD_human
HgeneERN1C0860207Drug-Induced Liver Disease1CTD_human
HgeneERN1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneERN1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneERN1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneERN1C4279912Chemically-Induced Liver Toxicity1CTD_human