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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:EMSY-CDH23 (FusionGDB2 ID:HG56946TG64072)

Fusion Gene Summary for EMSY-CDH23

check button Fusion gene summary
Fusion gene informationFusion gene name: EMSY-CDH23
Fusion gene ID: hg56946tg64072
HgeneTgene
Gene symbol

EMSY

CDH23

Gene ID

56946

64072

Gene nameEMSY transcriptional repressor, BRCA2 interactingcadherin related 23
SynonymsC11orf30|GL002CDHR23|PITA5|USH1D
Cytomap('C11orf30','EMSY')('CDH23','CDH23')

11q13.5

10q22.1

Type of geneprotein-codingprotein-coding
DescriptionBRCA2-interacting transcriptional repressor EMSYEMSY, BRCA2 interacting transcriptional repressorprotein EMSYcadherin-23cadherin-like 23cadherin-related family member 23otocadherin
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000525959, ENST00000334736, 
ENST00000343878, ENST00000524490, 
ENST00000524767, ENST00000525038, 
ENST00000525919, ENST00000529032, 
ENST00000533248, ENST00000533988, 
Fusion gene scores* DoF score9 X 10 X 4=36011 X 10 X 6=660
# samples 1412
** MAII scorelog2(14/360*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/660*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EMSY [Title/Abstract] AND CDH23 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC11orf30(76158052)-CDH23(73490226), # samples:2
EMSY(76158052)-CDH23(73490226), # 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


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
ChimerDB4PRADTCGA-G9-6361-01AC11orf30chr11

76158052

-CDH23chr10

73490226

+
ChimerDB4PRADTCGA-G9-6361-01AEMSYchr11

76158052

+CDH23chr10

73490226

+
ChimerDB4PRADTCGA-G9-6361C11orf30chr11

76158052

+CDH23chr10

73490226

+


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Fusion Gene ORF analysis for EMSY-CDH23

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-intronENST00000525959ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
3UTR-intronENST00000525959ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
3UTR-intronENST00000525959ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
3UTR-intronENST00000525959ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
3UTR-intronENST00000525959ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
3UTR-intronENST00000525959ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
3UTR-intronENST00000525959ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000334736ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000334736ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000334736ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000334736ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000334736ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000334736ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000334736ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000343878ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000343878ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000343878ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000343878ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000343878ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000343878ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000343878ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524490ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524490ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524490ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524490ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524490ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524490ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524490ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524767ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524767ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524767ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524767ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524767ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524767ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000524767ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525038ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525038ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525038ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525038ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525038ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525038ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525038ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525919ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525919ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525919ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525919ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525919ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525919ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000525919ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000529032ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000529032ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000529032ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000529032ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000529032ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000529032ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000529032ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533248ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533248ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533248ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533248ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533248ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533248ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533248ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533988ENST00000224721C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533988ENST00000299366C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533988ENST00000398788C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533988ENST00000398809C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533988ENST00000398842C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533988ENST00000461841C11orf30chr11

76158052

+CDH23chr10

73490226

+
5CDS-intronENST00000533988ENST00000475158C11orf30chr11

76158052

+CDH23chr10

73490226

+

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 EMSY-CDH23


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)
C11orf30chr1176158052+CDH23chr1073490225+2.35E-081
C11orf30chr1176158052+CDH23chr1073490225+2.35E-081


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.
genomic feature of top 1%

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Fusion Protein Features for EMSY-CDH23


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/:76158052/:73490226)
- 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 EMSY-CDH23


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 EMSY-CDH23


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 EMSY-CDH23


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 EMSY-CDH23


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEMSYC0006142Malignant neoplasm of breast1CTD_human
HgeneEMSYC0011615Dermatitis, Atopic1CTD_human
HgeneEMSYC0032460Polycystic Ovary Syndrome1CTD_human
HgeneEMSYC0086196Eczema, Infantile1CTD_human
HgeneEMSYC0678222Breast Carcinoma1CTD_human
HgeneEMSYC1136382Sclerocystic Ovaries1CTD_human
HgeneEMSYC1257931Mammary Neoplasms, Human1CTD_human
HgeneEMSYC1458155Mammary Neoplasms1CTD_human
HgeneEMSYC2931456Prostate cancer, familial1CTD_human
HgeneEMSYC4704874Mammary Carcinoma, Human1CTD_human
HgeneEMSYC4722327PROSTATE CANCER, HEREDITARY, 11CTD_human
TgeneC1832394Deafness, Autosomal Recessive 1210CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1832845USHER SYNDROME, TYPE ID7GENOMICS_ENGLAND;UNIPROT
TgeneC0154860Hereditary retinal dystrophy6CLINGEN
TgeneC1568247Usher Syndrome, Type I6CLINGEN;GENOMICS_ENGLAND
TgeneC1848638USHER SYNDROME, TYPE IB (disorder)6CLINGEN
TgeneC1848639USHER SYNDROME, TYPE IA, FORMERLY6CLINGEN
TgeneC1848640USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY6CLINGEN
TgeneC3711374Nonsyndromic Deafness6CLINGEN
TgeneC0004681Bagassosis1CTD_human
TgeneC0010481Cushing Syndrome1ORPHANET
TgeneC0032273Pneumoconiosis1CTD_human
TgeneC0033375Prolactinoma1ORPHANET
TgeneC0221406Pituitary-dependent Cushing's disease1ORPHANET
TgeneC0346303Thyrotroph adenoma1ORPHANET
TgeneC1384666hearing impairment1GENOMICS_ENGLAND
TgeneC1863340PITUITARY ADENOMA PREDISPOSITION (disorder)1ORPHANET
TgeneC2931205Usher syndrome, type 1A1GENOMICS_ENGLAND
TgeneC4539685PITUITARY ADENOMA 5, MULTIPLE TYPES1UNIPROT