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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:CDH23-DLG2 (FusionGDB2 ID:15060)

Fusion Gene Summary for CDH23-DLG2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH23-DLG2
Fusion gene ID: 15060
HgeneTgene
Gene symbol

CDH23

DLG2

Gene ID

64072

4355

Gene namecadherin related 23membrane palmitoylated protein 2
SynonymsCDHR23|PITA5|USH1DDLG2
Cytomap

10q22.1

17q21.31

Type of geneprotein-codingprotein-coding
Descriptioncadherin-23cadherin-like 23cadherin-related family member 23otocadherinMAGUK p55 subfamily member 2discs large, homolog 2membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)
Modification date2020032020200313
UniProtAcc

Q9H251

Q15700

Ensembl transtripts involved in fusion geneENST00000224721, ENST00000299366, 
ENST00000398788, ENST00000398809, 
ENST00000398842, ENST00000461841, 
ENST00000475158, 
ENST00000280241, 
ENST00000330014, ENST00000376104, 
ENST00000376106, ENST00000398301, 
ENST00000398304, ENST00000398309, 
ENST00000404783, ENST00000418306, 
ENST00000426717, ENST00000472545, 
ENST00000524982, ENST00000530800, 
ENST00000531015, ENST00000532653, 
ENST00000537455, ENST00000543673, 
Fusion gene scores* DoF score7 X 7 X 2=9845 X 44 X 9=17820
# samples 748
** MAII scorelog2(7/98*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(48/17820*10)=-5.21431912080077
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDH23 [Title/Abstract] AND DLG2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDH23(73510655)-DLG2(84752058), # samples:2
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 buttonFusion gene breakpoints across CDH23 (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 DLG2 (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
ChiTaRS5.0N/AT05549CDH23chr10

73510655

+DLG2chr11

84752058

+
ChiTaRS5.0N/AT05956CDH23chr10

73510655

+DLG2chr11

84752058

+


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Fusion Gene ORF analysis for CDH23-DLG2

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-intronENST00000224721ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+

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 CDH23-DLG2


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 CDH23-DLG2


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/:73510655/:84752058)
- 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
CDH23

Q9H251

DLG2

Q15700

FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:16679490}.FUNCTION: Required for perception of chronic pain through NMDA receptor signaling. Regulates surface expression of NMDA receptors in dorsal horn neurons of the spinal cord. Interacts with the cytoplasmic tail of NMDA receptor subunits as well as inward rectifying potassium channels. Involved in regulation of synaptic stability at cholinergic synapses. Part of the postsynaptic protein scaffold of excitatory synapses (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 CDH23-DLG2


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 CDH23-DLG2


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 CDH23-DLG2


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 CDH23-DLG2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource