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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:IGF2R-ESR2 (FusionGDB2 ID:HG3482TG2100)

Fusion Gene Summary for IGF2R-ESR2

check button Fusion gene summary
Fusion gene informationFusion gene name: IGF2R-ESR2
Fusion gene ID: hg3482tg2100
HgeneTgene
Gene symbol

IGF2R

ESR2

Gene ID

3482

2100

Gene nameinsulin like growth factor 2 receptorestrogen receptor 2
SynonymsCD222|CI-M6PR|CIMPR|M6P-R|M6P/IGF2R|MPR 300|MPR1|MPR300|MPRIER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2|ODG8
Cytomap('IGF2R')('ESR2')

6q25.3

14q23.2-q23.3

Type of geneprotein-codingprotein-coding
Descriptioncation-independent mannose-6-phosphate receptor300 kDa mannose 6-phosphate receptorCI Man-6-P receptorIGF-II receptorM6P/IGF2 receptorinsulin-like growth factor II receptorestrogen receptor betaestrogen receptor beta 4estrogen receptor beta splice variant, ERbeta2delta7estrogen receptor beta splice variant, ERbeta4delta7estrogen receptor beta splice variant, ERbeta6estrogen receptor beta splice variant, ERbeta6delta7e
Modification date2020031520200322
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000356956, ENST00000475584, 
Fusion gene scores* DoF score23 X 16 X 11=40483 X 3 X 2=18
# samples 253
** MAII scorelog2(25/4048*10)=-4.01720929003222
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IGF2R [Title/Abstract] AND ESR2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIGF2R(160527504)-ESR2(64778361), # 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
TgeneESR2

GO:0000122

negative regulation of transcription by RNA polymerase II

15345745

TgeneESR2

GO:0045893

positive regulation of transcription, DNA-templated

20074560

TgeneESR2

GO:0051091

positive regulation of DNA-binding transcription factor activity

10681512



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 IGF2R-ESR2

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 IGF2R-ESR2


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 IGF2R-ESR2


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/:160527504/:64778361)
- 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 IGF2R-ESR2


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 IGF2R-ESR2


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 IGF2R-ESR2


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 IGF2R-ESR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIGF2RC0024115Lung diseases2CTD_human
HgeneIGF2RC0235833Congenital diaphragmatic hernia2CTD_human
HgeneIGF2RC0265699Congenital hernia of foramen of Morgagni2CTD_human
HgeneIGF2RC0265700Congenital hernia of foramen of Bochdalek2CTD_human
HgeneIGF2RC0002395Alzheimer's Disease1CTD_human
HgeneIGF2RC0011265Presenile dementia1CTD_human
HgeneIGF2RC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneIGF2RC0030567Parkinson Disease1CTD_human
HgeneIGF2RC0033578Prostatic Neoplasms1CTD_human
HgeneIGF2RC0242973Ventricular Dysfunction1CTD_human
HgeneIGF2RC0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneIGF2RC0376358Malignant neoplasm of prostate1CTD_human
HgeneIGF2RC0494463Alzheimer Disease, Late Onset1CTD_human
HgeneIGF2RC0546126Acute Confusional Senile Dementia1CTD_human
HgeneIGF2RC0553980Endomyocardial Fibrosis1CTD_human
HgeneIGF2RC0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneIGF2RC0750901Alzheimer Disease, Early Onset1CTD_human
HgeneIGF2RC0752347Lewy Body Disease1CTD_human
HgeneIGF2RC2239176Liver carcinoma1CGI;CTD_human
TgeneC0033578Prostatic Neoplasms6CTD_human
TgeneC0376358Malignant neoplasm of prostate6CTD_human
TgeneC0006142Malignant neoplasm of breast3CTD_human
TgeneC0036341Schizophrenia3PSYGENET
TgeneC0678222Breast Carcinoma3CTD_human
TgeneC1257931Mammary Neoplasms, Human3CTD_human
TgeneC1458155Mammary Neoplasms3CTD_human
TgeneC4704874Mammary Carcinoma, Human3CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0003811Cardiac Arrhythmia1CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007138Carcinoma, Transitional Cell1CTD_human
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0010054Coronary Arteriosclerosis1CTD_human
TgeneC0010068Coronary heart disease1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0021361Female infertility1CTD_human
TgeneC0023869Lithiasis1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0025149Medulloblastoma1CTD_human
TgeneC0038279Sterility, Postpartum1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0205833Medullomyoblastoma1CTD_human
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0278510Childhood Medulloblastoma1CTD_human
TgeneC0278876Adult Medulloblastoma1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0282612Prostatic Intraepithelial Neoplasias1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0341869Subfertility, Female1CTD_human
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0588008Severe depression1PSYGENET
TgeneC0600427Cocaine Dependence1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0751291Desmoplastic Medulloblastoma1CTD_human
TgeneC0917730Female sterility1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1275668Melanotic medulloblastoma1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1833921Familial medullary thyroid carcinoma1ORPHANET
TgeneC1956346Coronary Artery Disease1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human
TgeneC4748626OVARIAN DYSGENESIS 81UNIPROT