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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6449

FusionGeneSummary for CDH23_DLG2

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH23_DLG2
Fusion gene ID: 6449
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 date2018051920180519
UniProtAcc

Q9H251

Q15700

Ensembl transtripts involved in fusion geneENST00000398842, ENST00000398809, 
ENST00000461841, ENST00000299366, 
ENST00000224721, ENST00000398788, 
ENST00000475158, 
ENST00000398309, 
ENST00000376104, ENST00000418306, 
ENST00000280241, ENST00000543673, 
ENST00000376106, ENST00000330014, 
ENST00000537455, ENST00000524982, 
ENST00000532653, ENST00000531015, 
ENST00000398301, ENST00000426717, 
ENST00000404783, ENST00000398304, 
ENST00000530800, ENST00000472545, 
Fusion gene scores* DoF score4 X 4 X 2=3216 X 15 X 6=1440
# samples 520
** MAII scorelog2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/1440*10)=-2.84799690655495
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1T05549CDH23chr10

73510655

+DLG2chr11

84752058

+
ChiTaRS3.1T05956CDH23chr10

73510655

+DLG2chr11

84752058

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000398842ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398842ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398809ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000461841ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000299366ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000224721ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000398788ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000398309CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000376104CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000418306CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000280241CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000543673CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000376106CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000330014CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000537455CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000524982CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000532653CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000531015CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000398301CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000426717CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000404783CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000398304CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000530800CDH23chr10

73510655

+DLG2chr11

84752058

+
intron-intronENST00000475158ENST00000472545CDH23chr10

73510655

+DLG2chr11

84752058

+

Top

FusionProtFeatures for CDH23_DLG2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDH23

Q9H251

DLG2

Q15700

Required for perception of chronic pain through NMDAreceptor signaling. Regulates surface expression of NMDA receptorsin dorsal horn neurons of the spinal cord. Interacts with thecytoplasmic tail of NMDA receptor subunits as well as inwardrectifying potassium channels. Involved in regulation of synapticstability at cholinergic synapses. Part of the postsynapticprotein 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


Top

FusionGeneSequence for CDH23_DLG2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI 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


Top

RelatedDrugs for CDH23_DLG2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for CDH23_DLG2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDH23C1832394Deafness, Autosomal Recessive 128CTD_human;UNIPROT
HgeneCDH23C1832845USHER SYNDROME, TYPE ID6UNIPROT
HgeneCDH23C0032273Pneumoconiosis1CTD_human
TgeneDLG2C0036341Schizophrenia4PSYGENET
TgeneDLG2C0005586Bipolar Disorder2PSYGENET
TgeneDLG2C0025202melanoma1CTD_human
TgeneDLG2C0041696Unipolar Depression1PSYGENET
TgeneDLG2C0809983Schizophrenia and related disorders1PSYGENET
TgeneDLG2C1269683Major Depressive Disorder1PSYGENET