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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:EDARADD-ENO1 (FusionGDB2 ID:24912)

Fusion Gene Summary for EDARADD-ENO1

check button Fusion gene summary
Fusion gene informationFusion gene name: EDARADD-ENO1
Fusion gene ID: 24912
HgeneTgene
Gene symbol

EDARADD

ENO1

Gene ID

128178

2023

Gene nameEDAR associated death domainenolase 1
SynonymsECTD11A|ECTD11B|ED3|EDA3ENO1L1|HEL-S-17|MPB1|NNE|PPH
Cytomap

1q42.3-q43

1p36.23

Type of geneprotein-codingprotein-coding
Descriptionectodysplasin-A receptor-associated adapter proteinEDAR-associated death domain proteincrinkled homologectodysplasia A receptor associated death domainalpha-enolasec-myc promoter-binding protein-12-phospho-D-glycerate hydro-lyaseMYC promoter-binding protein 1alpha enolase like 1enolase 1, (alpha)enolase-alphaepididymis secretory protein Li 17non-neural enolasephosphopyruvate hydrataseplasminog
Modification date2020031320200320
UniProtAcc.

P06733

Ensembl transtripts involved in fusion geneENST00000334232, ENST00000359362, 
ENST00000234590, 
Fusion gene scores* DoF score5 X 6 X 4=12026 X 31 X 13=10478
# samples 637
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(37/10478*10)=-4.82369428615275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EDARADD [Title/Abstract] AND ENO1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion transcriptome profiling provides insights into alveolar rhabdomyosarcoma (pmid: 27799565)
Fusion transcriptome profiling provides insights into alveolar rhabdomyosarcoma (pmid: 27799565)
Most frequent breakpointEDARADD(236647127)-ENO1(8926377), # samples:19
ENO1(8926346)-EDARADD(236647061), # samples:12
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
TgeneENO1

GO:0000122

negative regulation of transcription by RNA polymerase II

2005901

TgeneENO1

GO:0030308

negative regulation of cell growth

10082554

TgeneENO1

GO:0045892

negative regulation of transcription, DNA-templated

10082554

TgeneENO1

GO:0061621

canonical glycolysis

29775581

TgeneENO1

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

15459207

TgeneENO1

GO:2001171

positive regulation of ATP biosynthetic process

15459207


check buttonFusion gene breakpoints across EDARADD (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ENO1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4Non-CancerTCGA-AA-3697-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-06-0681-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-KN-8426-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-KN-8431-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-KN-8425-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-B0-5690-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-5458-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-5469-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-5984-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-5461-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-5452-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-5454-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-4865-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-5985-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-B0-5711-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-B0-4712-11AEDARADDchr1

236647141

+ENO1chr1

8926446

-
ChimerDB4Non-CancerTCGA-CW-6087-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-CZ-4864-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-44-2668-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-
ChimerDB4Non-CancerTCGA-55-6985-11AEDARADDchr1

236647127

+ENO1chr1

8926377

-


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Fusion Gene ORF analysis for EDARADD-ENO1

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
intron-3CDSENST00000334232ENST00000234590EDARADDchr1

236647127

+ENO1chr1

8926377

-
3UTR-3CDSENST00000359362ENST00000234590EDARADDchr1

236647127

+ENO1chr1

8926377

-
intron-3CDSENST00000334232ENST00000234590EDARADDchr1

236647141

+ENO1chr1

8926446

-
3UTR-3CDSENST00000359362ENST00000234590EDARADDchr1

236647141

+ENO1chr1

8926446

-

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 EDARADD-ENO1


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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for EDARADD-ENO1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ENO1

P06733

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Glycolytic enzyme the catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate (PubMed:29775581, PubMed:1369209). In addition to glycolysis, involved in various processes such as growth control, hypoxia tolerance and allergic responses (PubMed:2005901, PubMed:10802057, PubMed:12666133, PubMed:29775581). May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons (PubMed:12666133). Stimulates immunoglobulin production (PubMed:1369209). {ECO:0000269|PubMed:10802057, ECO:0000269|PubMed:12666133, ECO:0000269|PubMed:1369209, ECO:0000269|PubMed:2005901, ECO:0000269|PubMed:29775581}.; FUNCTION: MBP1 binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor. {ECO:0000269|PubMed:10082554}.

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 EDARADD-ENO1


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 EDARADD-ENO1


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 EDARADD-ENO1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneENO1P06733DB14548Zinc sulfate, unspecified formBinderSmall moleculeApproved|Experimental
TgeneENO1P06733DB14548Zinc sulfate, unspecified formBinderSmall moleculeApproved|Experimental
TgeneENO1P06733DB14548Zinc sulfate, unspecified formBinderSmall moleculeApproved|Experimental
TgeneENO1P06733DB14548Zinc sulfate, unspecified formBinderSmall moleculeApproved|Experimental
TgeneENO1P06733DB01593ZincSmall moleculeApproved|Investigational
TgeneENO1P06733DB01593ZincSmall moleculeApproved|Investigational
TgeneENO1P06733DB01593ZincSmall moleculeApproved|Investigational
TgeneENO1P06733DB01593ZincSmall moleculeApproved|Investigational
TgeneENO1P06733DB09130CopperSmall moleculeApproved|Investigational
TgeneENO1P06733DB09130CopperSmall moleculeApproved|Investigational
TgeneENO1P06733DB09130CopperSmall moleculeApproved|Investigational
TgeneENO1P06733DB09130CopperSmall moleculeApproved|Investigational
TgeneENO1P06733DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneENO1P06733DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneENO1P06733DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneENO1P06733DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneENO1P06733DB14533Zinc chlorideBinderSmall moleculeApproved|Investigational
TgeneENO1P06733DB14533Zinc chlorideBinderSmall moleculeApproved|Investigational
TgeneENO1P06733DB14533Zinc chlorideBinderSmall moleculeApproved|Investigational
TgeneENO1P06733DB14533Zinc chlorideBinderSmall moleculeApproved|Investigational

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Related Diseases for EDARADD-ENO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEDARADDC3539920ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE4GENOMICS_ENGLAND;UNIPROT
HgeneEDARADDC3541517ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneEDARADDC0162359Christ-Siemens-Touraine syndrome2GENOMICS_ENGLAND
TgeneENO1C0019193Hepatitis, Toxic2CTD_human
TgeneENO1C0152013Adenocarcinoma of lung (disorder)2CTD_human
TgeneENO1C0860207Drug-Induced Liver Disease2CTD_human
TgeneENO1C1262760Hepatitis, Drug-Induced2CTD_human
TgeneENO1C3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneENO1C4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneENO1C4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneENO1C0001418Adenocarcinoma1CTD_human
TgeneENO1C0001787Osteoporosis, Age-Related1CTD_human
TgeneENO1C0002395Alzheimer's Disease1CTD_human
TgeneENO1C0003873Rheumatoid Arthritis1CTD_human
TgeneENO1C0006142Malignant neoplasm of breast1CTD_human
TgeneENO1C0007097Carcinoma1CTD_human
TgeneENO1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneENO1C0007137Squamous cell carcinoma1CTD_human
TgeneENO1C0011265Presenile dementia1CTD_human
TgeneENO1C0014859Esophageal Neoplasms1CTD_human
TgeneENO1C0021364Male infertility1CTD_human
TgeneENO1C0024623Malignant neoplasm of stomach1CTD_human
TgeneENO1C0024667Animal Mammary Neoplasms1CTD_human
TgeneENO1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneENO1C0026640Mouth Neoplasms1CTD_human
TgeneENO1C0027626Neoplasm Invasiveness1CTD_human
TgeneENO1C0029408Degenerative polyarthritis1CTD_human
TgeneENO1C0029456Osteoporosis1CTD_human
TgeneENO1C0029459Osteoporosis, Senile1CTD_human
TgeneENO1C0038356Stomach Neoplasms1CTD_human
TgeneENO1C0086743Osteoarthrosis Deformans1CTD_human
TgeneENO1C0153381Malignant neoplasm of mouth1CTD_human
TgeneENO1C0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneENO1C0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneENO1C0205643Carcinoma, Cribriform1CTD_human
TgeneENO1C0205644Carcinoma, Granular Cell1CTD_human
TgeneENO1C0205645Adenocarcinoma, Tubular1CTD_human
TgeneENO1C0205696Anaplastic carcinoma1CTD_human
TgeneENO1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneENO1C0205698Undifferentiated carcinoma1CTD_human
TgeneENO1C0205699Carcinomatosis1CTD_human
TgeneENO1C0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneENO1C0494463Alzheimer Disease, Late Onset1CTD_human
TgeneENO1C0520459Necrotizing Enterocolitis1CTD_human
TgeneENO1C0546126Acute Confusional Senile Dementia1CTD_human
TgeneENO1C0546837Malignant neoplasm of esophagus1CTD_human
TgeneENO1C0678222Breast Carcinoma1CTD_human
TgeneENO1C0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneENO1C0750901Alzheimer Disease, Early Onset1CTD_human
TgeneENO1C0751406Post-Traumatic Osteoporosis1CTD_human
TgeneENO1C0848676Subfertility, Male1CTD_human
TgeneENO1C0917731Male sterility1CTD_human
TgeneENO1C0948089Acute Coronary Syndrome1CTD_human
TgeneENO1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneENO1C1257931Mammary Neoplasms, Human1CTD_human
TgeneENO1C1458155Mammary Neoplasms1CTD_human
TgeneENO1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneENO1C2239176Liver carcinoma1CTD_human
TgeneENO1C4704874Mammary Carcinoma, Human1CTD_human