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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:ADK-CDH23 (FusionGDB2 ID:2582)

Fusion Gene Summary for ADK-CDH23

check button Fusion gene summary
Fusion gene informationFusion gene name: ADK-CDH23
Fusion gene ID: 2582
HgeneTgene
Gene symbol

ADK

CDH23

Gene ID

132

64072

Gene nameadenosine kinasecadherin related 23
SynonymsAKCDHR23|PITA5|USH1D
Cytomap

10q22.2|10q11-q24

10q22.1

Type of geneprotein-codingprotein-coding
Descriptionadenosine kinaseadenosine 5'-phosphotransferasetesticular tissue protein Li 14cadherin-23cadherin-like 23cadherin-related family member 23otocadherin
Modification date2020031320200320
UniProtAcc.

Q9H251

Ensembl transtripts involved in fusion geneENST00000539909, ENST00000286621, 
ENST00000372734, ENST00000541550, 
ENST00000467840, 		ENST00000398842, 
ENST00000398809, ENST00000461841, 
ENST00000299366, ENST00000224721, 
ENST00000398788, ENST00000475158, 
Fusion gene scores* DoF score19 X 13 X 10=247011 X 10 X 6=660
# samples 2612
** MAII scorelog2(26/2470*10)=-3.24792751344359
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: ADK [Title/Abstract] AND CDH23 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADK(76074503)-CDH23(73375261), # samples:1
Anticipated loss of major functional domain due to fusion event.ADK-CDH23 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ADK-CDH23 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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 ADK (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 CDH23 (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
ChimerDB4STADTCGA-BR-A4QI-01AADKchr10

76074503

+CDH23chr10

73375261

+


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Fusion Gene ORF analysis for ADK-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
Frame-shiftENST00000539909ENST00000398842ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000539909ENST00000398809ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000539909ENST00000461841ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000539909ENST00000299366ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000539909ENST00000224721ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000539909ENST00000398788ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000539909ENST00000475158ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000286621ENST00000398842ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000286621ENST00000398809ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000286621ENST00000461841ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000286621ENST00000299366ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000286621ENST00000224721ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000286621ENST00000398788ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000286621ENST00000475158ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000372734ENST00000398842ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000372734ENST00000398809ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000372734ENST00000461841ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000372734ENST00000299366ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000372734ENST00000224721ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000372734ENST00000398788ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000372734ENST00000475158ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000541550ENST00000398842ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000541550ENST00000398809ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000541550ENST00000461841ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000541550ENST00000299366ADKchr10

76074503

+CDH23chr10

73375261

+
Frame-shiftENST00000541550ENST00000224721ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000541550ENST00000398788ADKchr10

76074503

+CDH23chr10

73375261

+
5CDS-intronENST00000541550ENST00000475158ADKchr10

76074503

+CDH23chr10

73375261

+
intron-3CDSENST00000467840ENST00000398842ADKchr10

76074503

+CDH23chr10

73375261

+
intron-3CDSENST00000467840ENST00000398809ADKchr10

76074503

+CDH23chr10

73375261

+
intron-3CDSENST00000467840ENST00000461841ADKchr10

76074503

+CDH23chr10

73375261

+
intron-3CDSENST00000467840ENST00000299366ADKchr10

76074503

+CDH23chr10

73375261

+
intron-3CDSENST00000467840ENST00000224721ADKchr10

76074503

+CDH23chr10

73375261

+
intron-intronENST00000467840ENST00000398788ADKchr10

76074503

+CDH23chr10

73375261

+
intron-intronENST00000467840ENST00000475158ADKchr10

76074503

+CDH23chr10

73375261

+

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 ADK-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)
ADKchr1076074503+CDH23chr1073375260+5.58E-101
ADKchr1076074503+CDH23chr1073375260+5.58E-101

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 ADK-CDH23


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
.CDH23

Q9H251

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: 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}.

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 ADK-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 ADK-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 ADK-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 ADK-CDH23


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADKC3280381HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneADKC0003129Anoxemia1CTD_human
HgeneADKC0003130Anoxia1CTD_human
HgeneADKC0020796Profound Mental Retardation1CTD_human
HgeneADKC0025363Mental Retardation, Psychosocial1CTD_human
HgeneADKC0036341Schizophrenia1PSYGENET
HgeneADKC0242184Hypoxia1CTD_human
HgeneADKC0700292Hypoxemia1CTD_human
HgeneADKC0917816Mental deficiency1CTD_human
HgeneADKC3714756Intellectual Disability1CTD_human
TgeneCDH23C1832394Deafness, Autosomal Recessive 1210CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneCDH23C1832845USHER SYNDROME, TYPE ID7GENOMICS_ENGLAND;UNIPROT
TgeneCDH23C0154860Hereditary retinal dystrophy6CLINGEN
TgeneCDH23C1568247Usher Syndrome, Type I6CLINGEN;GENOMICS_ENGLAND
TgeneCDH23C1848638USHER SYNDROME, TYPE IB (disorder)6CLINGEN
TgeneCDH23C1848639USHER SYNDROME, TYPE IA, FORMERLY6CLINGEN
TgeneCDH23C1848640USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY6CLINGEN
TgeneCDH23C3711374Nonsyndromic Deafness6CLINGEN
TgeneCDH23C0004681Bagassosis1CTD_human
TgeneCDH23C0010481Cushing Syndrome1ORPHANET
TgeneCDH23C0032273Pneumoconiosis1CTD_human
TgeneCDH23C0033375Prolactinoma1ORPHANET
TgeneCDH23C0221406Pituitary-dependent Cushing's disease1ORPHANET
TgeneCDH23C0346303Thyrotroph adenoma1ORPHANET
TgeneCDH23C1384666hearing impairment1GENOMICS_ENGLAND
TgeneCDH23C1863340PITUITARY ADENOMA PREDISPOSITION (disorder)1ORPHANET
TgeneCDH23C2931205Usher syndrome, type 1A1GENOMICS_ENGLAND
TgeneCDH23C4539685PITUITARY ADENOMA 5, MULTIPLE TYPES1UNIPROT