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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-IGF1 (FusionGDB2 ID:HG1958TG3479)

Fusion Gene Summary for EGR1-IGF1

check button Fusion gene summary
Fusion gene informationFusion gene name: EGR1-IGF1
Fusion gene ID: hg1958tg3479
HgeneTgene
Gene symbol

EGR1

IGF1

Gene ID

1958

3479

Gene nameearly growth response 1insulin like growth factor 1
SynonymsAT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225IGF|IGF-I|IGFI|MGF
Cytomap('EGR1')('IGF1')

5q31.2

12q23.2

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-24insulin-like growth factor Iinsulin-like growth factor 1 (somatomedin C)insulin-like growth factor IBmechano growth factorsomatomedin-C
Modification date2020031320200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000239938, 
Fusion gene scores* DoF score12 X 10 X 5=6006 X 5 X 5=150
# samples 146
** MAII scorelog2(14/600*10)=-2.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EGR1 [Title/Abstract] AND IGF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEGR1(137803811)-IGF1(102793964), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

TgeneIGF1

GO:0001775

cell activation

22797923

TgeneIGF1

GO:0008284

positive regulation of cell proliferation

7688386|9722506|12746903

TgeneIGF1

GO:0009408

response to heat

11404306

TgeneIGF1

GO:0010613

positive regulation of cardiac muscle hypertrophy

19654000

TgeneIGF1

GO:0010629

negative regulation of gene expression

29167509

TgeneIGF1

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

7688386

TgeneIGF1

GO:0014834

skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration

17531227

TgeneIGF1

GO:0014904

myotube cell development

17531227

TgeneIGF1

GO:0014911

positive regulation of smooth muscle cell migration

10766744

TgeneIGF1

GO:0030166

proteoglycan biosynthetic process

12746903

TgeneIGF1

GO:0034392

negative regulation of smooth muscle cell apoptotic process

16942485

TgeneIGF1

GO:0035630

bone mineralization involved in bone maturation

16433617

TgeneIGF1

GO:0042104

positive regulation of activated T cell proliferation

15694994

TgeneIGF1

GO:0042531

positive regulation of tyrosine phosphorylation of STAT protein

9722506

TgeneIGF1

GO:0043388

positive regulation of DNA binding

19654000

TgeneIGF1

GO:0043410

positive regulation of MAPK cascade

19654000

TgeneIGF1

GO:0043568

positive regulation of insulin-like growth factor receptor signaling pathway

7688386|10766744

TgeneIGF1

GO:0045445

myoblast differentiation

17531227

TgeneIGF1

GO:0045669

positive regulation of osteoblast differentiation

16433617

TgeneIGF1

GO:0045725

positive regulation of glycogen biosynthetic process

21076856

TgeneIGF1

GO:0045821

positive regulation of glycolytic process

7688386

TgeneIGF1

GO:0045840

positive regulation of mitotic nuclear division

7188854|10644978

TgeneIGF1

GO:0045893

positive regulation of transcription, DNA-templated

9722506|19654000

TgeneIGF1

GO:0045944

positive regulation of transcription by RNA polymerase II

16433617

TgeneIGF1

GO:0046326

positive regulation of glucose import

21076856

TgeneIGF1

GO:0046579

positive regulation of Ras protein signal transduction

9722506

TgeneIGF1

GO:0048015

phosphatidylinositol-mediated signaling

7692086

TgeneIGF1

GO:0048146

positive regulation of fibroblast proliferation

7188854

TgeneIGF1

GO:0048661

positive regulation of smooth muscle cell proliferation

10766744|16942485

TgeneIGF1

GO:0050679

positive regulation of epithelial cell proliferation

7188854

TgeneIGF1

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

7782332|22635104

TgeneIGF1

GO:0051450

myoblast proliferation

17531227

TgeneIGF1

GO:0061051

positive regulation of cell growth involved in cardiac muscle cell development

24117217

TgeneIGF1

GO:0070886

positive regulation of calcineurin-NFAT signaling cascade

19654000

TgeneIGF1

GO:2000679

positive regulation of transcription regulatory region DNA binding

15059951

TgeneIGF1

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

16942485



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
ChimerDB4STADTCGA-BR-A44T-01AEGR1chr5

137803811

+IGF1chr12

102793964

-


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Fusion Gene ORF analysis for EGR1-IGF1

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
3UTR-3UTRENST00000239938ENST00000337514EGR1chr5

137803811

+IGF1chr12

102793964

-
3UTR-3UTRENST00000239938ENST00000456098EGR1chr5

137803811

+IGF1chr12

102793964

-
3UTR-intronENST00000239938ENST00000307046EGR1chr5

137803811

+IGF1chr12

102793964

-
3UTR-intronENST00000239938ENST00000392904EGR1chr5

137803811

+IGF1chr12

102793964

-
3UTR-intronENST00000239938ENST00000424202EGR1chr5

137803811

+IGF1chr12

102793964

-
3UTR-intronENST00000239938ENST00000481539EGR1chr5

137803811

+IGF1chr12

102793964

-

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-IGF1


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-IGF1


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/:137803811/:102793964)
- 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-IGF1


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-IGF1


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-IGF1


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-IGF1


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
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0001206Acromegaly4CTD_human
TgeneC0011206Delirium3PSYGENET
TgeneC0024668Mammary Neoplasms, Experimental3CTD_human
TgeneC0033578Prostatic Neoplasms3CTD_human
TgeneC0376358Malignant neoplasm of prostate3CTD_human
TgeneC1837475Insulin-Like Growth Factor I Deficiency3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0006142Malignant neoplasm of breast2CTD_human
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0020538Hypertensive disease2CTD_human
TgeneC0023893Liver Cirrhosis, Experimental2CTD_human
TgeneC0027746Nerve Degeneration2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC4721453Peripheral Nervous System Diseases2CTD_human
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0001430Adenoma1CTD_human
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0002395Alzheimer's Disease1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0005944Metabolic Bone Disorder1CTD_human
TgeneC0006625Cachexia1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0008370Cholestasis1CTD_human
TgeneC0009319Colitis1CTD_human
TgeneC0010034Corneal Diseases1CTD_human
TgeneC0010346Crohn Disease1CTD_human
TgeneC0011265Presenile dementia1CTD_human
TgeneC0011303Demyelinating Diseases1CTD_human
TgeneC0011304Demyelination1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0019284Diaphragmatic Hernia1CTD_human
TgeneC0020429Hyperalgesia1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0022661Kidney Failure, Chronic1CTD_human
TgeneC0026846Muscular Atrophy1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0029453Osteopenia1CTD_human
TgeneC0032000Pituitary Adenoma1CTD_human
TgeneC0032019Pituitary Neoplasms1CTD_human
TgeneC0034013Precocious Puberty1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0085762Alcohol abuse1PSYGENET
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0156147Crohn's disease of large bowel1CTD_human
TgeneC0205646Adenoma, Basal Cell1CTD_human
TgeneC0205647Follicular adenoma1CTD_human
TgeneC0205648Adenoma, Microcystic1CTD_human
TgeneC0205649Adenoma, Monomorphic1CTD_human
TgeneC0205650Papillary adenoma1CTD_human
TgeneC0205651Adenoma, Trabecular1CTD_human
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0238281Middle Cerebral Artery Syndrome1CTD_human
TgeneC0265202Seckel syndrome1GENOMICS_ENGLAND
TgeneC0267380Crohn's disease of the ileum1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0270948Neurogenic Muscular Atrophy1CTD_human
TgeneC0271527Cryptogenic sexual precocity1CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneC0342302Brittle diabetes1CTD_human
TgeneC0342543Central Precocious Puberty1CTD_human
TgeneC0346300Pituitary carcinoma1CTD_human
TgeneC0458247Allodynia1CTD_human
TgeneC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneC0546126Acute Confusional Senile Dementia1CTD_human
TgeneC0678202Regional enteritis1CTD_human
TgeneC0740376Middle Cerebral Artery Thrombosis1CTD_human
TgeneC0740391Middle Cerebral Artery Occlusion1CTD_human
TgeneC0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC0751211Hyperalgesia, Primary1CTD_human
TgeneC0751212Hyperalgesia, Secondary1CTD_human
TgeneC0751213Tactile Allodynia1CTD_human
TgeneC0751214Hyperalgesia, Thermal1CTD_human
TgeneC0751845Middle Cerebral Artery Embolus1CTD_human
TgeneC0751846Left Middle Cerebral Artery Infarction1CTD_human
TgeneC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751849Right Middle Cerebral Artery Infarction1CTD_human
TgeneC0853897Diabetic Cardiomyopathies1CTD_human
TgeneC0949272IIeocolitis1CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneC1292778Chronic myeloproliferative disorder1GENOMICS_ENGLAND
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1504412Testotoxicosis1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1720887Female Urogenital Diseases1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2350037Clinically Isolated Syndrome, CNS Demyelinating1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2936719Mechanical Allodynia1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4552766Miscarriage1CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human