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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:EGR1-EGR1 (FusionGDB2 ID:HG1958TG1958)

Fusion Gene Summary for EGR1-EGR1

check button Fusion gene summary
Fusion gene informationFusion gene name: EGR1-EGR1
Fusion gene ID: hg1958tg1958
HgeneTgene
Gene symbol

EGR1

EGR1

Gene ID

1958

1958

Gene nameearly growth response 1early growth response 1
SynonymsAT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225AT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225
Cytomap('EGR1')('EGR1')

5q31.2

5q31.2

Type of geneprotein-codingprotein-coding
Descriptionearly growth response protein 1EGR-1nerve growth factor-induced protein Atranscription factor ETR103transcription factor Zif268zinc finger protein 225zinc finger protein Krox-24early growth response protein 1EGR-1nerve growth factor-induced protein Atranscription factor ETR103transcription factor Zif268zinc finger protein 225zinc finger protein Krox-24
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000239938, ENST00000239938, 
Fusion gene scores* DoF score12 X 10 X 5=6007 X 10 X 3=210
# samples 1411
** MAII scorelog2(14/600*10)=-2.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/210*10)=-0.932885804141463
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EGR1 [Title/Abstract] AND EGR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEGR1(137802526)-EGR1(137803000), # samples:1
EGR1(137804114)-EGR1(137804076), # samples:1
EGR1(137803849)-EGR1(137803560), # samples:1
Anticipated loss of major functional domain due to fusion event.EGR1-EGR1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
EGR1-EGR1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
EGR1-EGR1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
EGR1-EGR1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneEGR1

GO:0006366

transcription by RNA polymerase II

19057511

HgeneEGR1

GO:0033233

regulation of protein sumoylation

19057511

HgeneEGR1

GO:0045893

positive regulation of transcription, DNA-templated

12560508

HgeneEGR1

GO:0045944

positive regulation of transcription by RNA polymerase II

19057511

HgeneEGR1

GO:0098759

cellular response to interleukin-8

20363028

HgeneEGR1

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19307576

TgeneEGR1

GO:0006366

transcription by RNA polymerase II

19057511

TgeneEGR1

GO:0033233

regulation of protein sumoylation

19057511

TgeneEGR1

GO:0045893

positive regulation of transcription, DNA-templated

12560508

TgeneEGR1

GO:0045944

positive regulation of transcription by RNA polymerase II

19057511

TgeneEGR1

GO:0098759

cellular response to interleukin-8

20363028

TgeneEGR1

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19307576



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


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Fusion Gene ORF analysis for EGR1-EGR1

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

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)

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

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Fusion Genomic Features for EGR1-EGR1


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)


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Fusion Protein Features for EGR1-EGR1


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/:137802526/:137803000)
- 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


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Fusion Gene Sequence for EGR1-EGR1


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.

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Fusion Gene PPI Analysis for EGR1-EGR1


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 EGR1-EGR1


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 EGR1-EGR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEGR1C0009171Cocaine Abuse3CTD_human
HgeneEGR1C0236736Cocaine-Related Disorders3CTD_human
HgeneEGR1C0600427Cocaine Dependence3CTD_human
HgeneEGR1C0008372Intrahepatic Cholestasis2CTD_human
HgeneEGR1C0003129Anoxemia1CTD_human
HgeneEGR1C0003130Anoxia1CTD_human
HgeneEGR1C0004364Autoimmune Diseases1CTD_human
HgeneEGR1C0007786Brain Ischemia1CTD_human
HgeneEGR1C0008311Cholangitis1CTD_human
HgeneEGR1C0008370Cholestasis1CTD_human
HgeneEGR1C0020295Hydronephrosis1CTD_human
HgeneEGR1C0021368Inflammation1CTD_human
HgeneEGR1C0022116Ischemia1CTD_human
HgeneEGR1C0024121Lung Neoplasms1CTD_human
HgeneEGR1C0025500Mesothelioma1CTD_human
HgeneEGR1C0032285Pneumonia1CTD_human
HgeneEGR1C0032300Lobar Pneumonia1CTD_human
HgeneEGR1C0033578Prostatic Neoplasms1CTD_human
HgeneEGR1C0035126Reperfusion Injury1CTD_human
HgeneEGR1C0087031Juvenile-Onset Still Disease1CTD_human
HgeneEGR1C0242184Hypoxia1CTD_human
HgeneEGR1C0242379Malignant neoplasm of lung1CTD_human
HgeneEGR1C0376358Malignant neoplasm of prostate1CTD_human
HgeneEGR1C0700292Hypoxemia1CTD_human
HgeneEGR1C0887898Experimental Lung Inflammation1CTD_human
HgeneEGR1C0917798Cerebral Ischemia1CTD_human
HgeneEGR1C2239176Liver carcinoma1CTD_human
HgeneEGR1C3495559Juvenile arthritis1CTD_human
HgeneEGR1C3714636Pneumonitis1CTD_human
HgeneEGR1C3714758Juvenile psoriatic arthritis1CTD_human
HgeneEGR1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneEGR1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC0009171Cocaine Abuse3CTD_human
TgeneC0236736Cocaine-Related Disorders3CTD_human
TgeneC0600427Cocaine Dependence3CTD_human
TgeneC0008372Intrahepatic Cholestasis2CTD_human
TgeneC0003129Anoxemia1CTD_human
TgeneC0003130Anoxia1CTD_human
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0008311Cholangitis1CTD_human
TgeneC0008370Cholestasis1CTD_human
TgeneC0020295Hydronephrosis1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022116Ischemia1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0025500Mesothelioma1CTD_human
TgeneC0032285Pneumonia1CTD_human
TgeneC0032300Lobar Pneumonia1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0242184Hypoxia1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0700292Hypoxemia1CTD_human
TgeneC0887898Experimental Lung Inflammation1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3714636Pneumonitis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human