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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:ANK3-ESR1 (FusionGDB2 ID:HG288TG2099)

Fusion Gene Summary for ANK3-ESR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANK3-ESR1
Fusion gene ID: hg288tg2099
HgeneTgene
Gene symbol

ANK3

ESR1

Gene ID

288

2099

Gene nameankyrin 3estrogen receptor 1
SynonymsANKYRIN-G|MRT37ER|ESR|ESRA|ESTRR|Era|NR3A1
Cytomap('ANK3')('ESR1')

10q21.2

6q25.1-q25.2

Type of geneprotein-codingprotein-coding
Descriptionankyrin-3ankyrin 3, node of Ranvier (ankyrin G)estrogen receptorE2 receptor alphaER-alphaestradiol receptorestrogen nuclear receptor alphaestrogen receptor alpha E1-E2-1-2estrogen receptor alpha E1-N2-E2-1-2nuclear receptor subfamily 3 group A member 1oestrogen receptor alpha
Modification date2020031320200329
UniProtAcc

Q12955

.
Ensembl transtripts involved in fusion geneENST00000280772, ENST00000355288, 
ENST00000373827, ENST00000460468, 
ENST00000503366, ENST00000510382, 
Fusion gene scores* DoF score28 X 22 X 9=554410 X 10 X 6=600
# samples 2912
** MAII scorelog2(29/5544*10)=-4.25680245212228
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANK3 [Title/Abstract] AND ESR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANK3(61806567)-ESR1(151989659), # 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
TgeneESR1

GO:0006366

transcription by RNA polymerase II

15831516

TgeneESR1

GO:0010629

negative regulation of gene expression

21695196

TgeneESR1

GO:0030520

intracellular estrogen receptor signaling pathway

9841876

TgeneESR1

GO:0032355

response to estradiol

15304487

TgeneESR1

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

7651415|16043358

TgeneESR1

GO:0043433

negative regulation of DNA-binding transcription factor activity

10816575

TgeneESR1

GO:0043627

response to estrogen

11581164

TgeneESR1

GO:0045893

positive regulation of transcription, DNA-templated

9841876|20074560

TgeneESR1

GO:0045899

positive regulation of RNA polymerase II transcriptional preinitiation complex assembly

9841876

TgeneESR1

GO:0045944

positive regulation of transcription by RNA polymerase II

11544182|12047722|15345745|15831516|18563714

TgeneESR1

GO:0051091

positive regulation of DNA-binding transcription factor activity

9328340|10681512

TgeneESR1

GO:0071392

cellular response to estradiol stimulus

15831516



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 ANK3-ESR1

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 ANK3-ESR1


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 ANK3-ESR1


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/:61806567/:151989659)
- 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
ANK3

Q12955

.
FUNCTION: In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). {ECO:0000250, ECO:0000269|PubMed:17974005}.; FUNCTION: [Isoform 5]: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. {ECO:0000305|PubMed:17974005}.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 ANK3-ESR1


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 ANK3-ESR1


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 ANK3-ESR1


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 ANK3-ESR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANK3C0005586Bipolar Disorder8CTD_human;PSYGENET
HgeneANK3C0005587Depression, Bipolar3CTD_human
HgeneANK3C0024713Manic Disorder3CTD_human
HgeneANK3C0036341Schizophrenia3PSYGENET
HgeneANK3C0338831Manic3CTD_human
HgeneANK3C0033975Psychotic Disorders2PSYGENET
HgeneANK3C0525045Mood Disorders2PSYGENET
HgeneANK3C0015923Fetal Alcohol Syndrome1CTD_human
HgeneANK3C0024121Lung Neoplasms1CTD_human
HgeneANK3C0033300Progeria1CTD_human
HgeneANK3C0038220Status Epilepticus1CTD_human
HgeneANK3C0178417Anhedonia1PSYGENET
HgeneANK3C0242379Malignant neoplasm of lung1CTD_human
HgeneANK3C0270823Petit mal status1CTD_human
HgeneANK3C0311335Grand Mal Status Epilepticus1CTD_human
HgeneANK3C0349204Nonorganic psychosis1PSYGENET
HgeneANK3C0393734Complex Partial Status Epilepticus1CTD_human
HgeneANK3C0751522Status Epilepticus, Subclinical1CTD_human
HgeneANK3C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneANK3C0751524Simple Partial Status Epilepticus1CTD_human
HgeneANK3C0814154Alcohol Related Neurodevelopmental Disorder1CTD_human
HgeneANK3C2985290Fetal Alcohol Spectrum Disorders1CTD_human
HgeneANK3C3146244Alcohol Related Birth Defect1CTD_human
HgeneANK3C3661483Partial Fetal Alcohol Syndrome1CTD_human
HgeneANK3C3809672MENTAL RETARDATION, AUTOSOMAL RECESSIVE 371CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0006142Malignant neoplasm of breast14CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0678222Breast Carcinoma14CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human14CTD_human
TgeneC1458155Mammary Neoplasms14CTD_human
TgeneC4704874Mammary Carcinoma, Human14CTD_human
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0036341Schizophrenia5PSYGENET
TgeneC0525045Mood Disorders4PSYGENET
TgeneC3809250ESTROGEN RESISTANCE3GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0001418Adenocarcinoma2CTD_human
TgeneC0007097Carcinoma2CTD_human
TgeneC0007621Neoplastic Cell Transformation2CTD_human
TgeneC0010054Coronary Arteriosclerosis2CTD_human
TgeneC0021364Male infertility2CTD_human
TgeneC0024121Lung Neoplasms2CTD_human
TgeneC0024667Animal Mammary Neoplasms2CTD_human
TgeneC0025500Mesothelioma2CTD_human
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell2CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic2CTD_human
TgeneC0205643Carcinoma, Cribriform2CTD_human
TgeneC0205644Carcinoma, Granular Cell2CTD_human
TgeneC0205645Adenocarcinoma, Tubular2CTD_human
TgeneC0205696Anaplastic carcinoma2CTD_human
TgeneC0205697Carcinoma, Spindle-Cell2CTD_human
TgeneC0205698Undifferentiated carcinoma2CTD_human
TgeneC0205699Carcinomatosis2CTD_human
TgeneC0242379Malignant neoplasm of lung2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0848676Subfertility, Male2CTD_human
TgeneC0917731Male sterility2CTD_human
TgeneC1257925Mammary Carcinoma, Animal2CTD_human
TgeneC1956346Coronary Artery Disease2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC0002395Alzheimer's Disease1CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0005940Bone Diseases1CTD_human
TgeneC0005944Metabolic Bone Disorder1CTD_human
TgeneC0007852Cervical Migraine Syndrome1CTD_human
TgeneC0011265Presenile dementia1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0017658Glomerulonephritis1CTD_human
TgeneC0018984Hemicrania migraine1CTD_human
TgeneC0021361Female infertility1CTD_human
TgeneC0023267Fibroid Tumor1CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0024809Marijuana Abuse1PSYGENET
TgeneC0026858Musculoskeletal Pain1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027643Neoplasm Recurrence, Local1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0028960Oligospermia1CTD_human
TgeneC0029453Osteopenia1CTD_human
TgeneC0033937Psychoses, Drug1CTD_human
TgeneC0033941Psychoses, Substance-Induced1CTD_human
TgeneC0036939Shared Paranoid Disorder1PSYGENET
TgeneC0038279Sterility, Postpartum1CTD_human
TgeneC0042133Uterine Fibroids1CTD_human
TgeneC0149931Migraine Disorders1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0270858Abdominal Migraine1CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)1CTD_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
TgeneC0338489Status Migrainosus1CTD_human
TgeneC0341869Subfertility, Female1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0476089Endometrial Carcinoma1CGI;CTD_human
TgeneC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneC0521664Acute Confusional Migraine1CTD_human
TgeneC0546126Acute Confusional Senile Dementia1CTD_human
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0700438Sick Headaches1CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0917730Female sterility1CTD_human
TgeneC1563937Atherogenesis1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1704377Bright Disease1CTD_human
TgeneC1720887Female Urogenital Diseases1CTD_human
TgeneC1800706Idiopathic Pulmonary Fibrosis1CTD_human
TgeneC4721508Hamman-Rich Disease1CTD_human
TgeneC4721509Usual Interstitial Pneumonia1CTD_human
TgeneC4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human