FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ASCC1-CDH23 (FusionGDB2 ID:7028)

Fusion Gene Summary for ASCC1-CDH23

check button Fusion gene summary
Fusion gene informationFusion gene name: ASCC1-CDH23
Fusion gene ID: 7028
HgeneTgene
Gene symbol

ASCC1

CDH23

Gene ID

51008

64072

Gene nameactivating signal cointegrator 1 complex subunit 1cadherin related 23
SynonymsASC1p50|CGI-18|SMABF2|p50CDHR23|PITA5|USH1D
Cytomap

10q22.1

10q22.1

Type of geneprotein-codingprotein-coding
Descriptionactivating signal cointegrator 1 complex subunit 1ASC-1 complex subunit P50trip4 complex subunit p50cadherin-23cadherin-like 23cadherin-related family member 23otocadherin
Modification date2020031320200320
UniProtAcc

Q8N9N2

Q9H251

Ensembl transtripts involved in fusion geneENST00000317126, ENST00000317168, 
ENST00000342444, ENST00000394915, 
ENST00000394919, ENST00000545550, 
ENST00000492502, 		ENST00000224721, 
ENST00000299366, ENST00000398788, 
ENST00000398809, ENST00000398842, 
ENST00000461841, ENST00000475158, 
Fusion gene scores* DoF score8 X 11 X 6=52811 X 10 X 6=660
# samples 1512
** MAII scorelog2(15/528*10)=-1.81557542886257
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: ASCC1 [Title/Abstract] AND CDH23 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASCC1(73956569)-CDH23(73537437), # 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
HgeneASCC1

GO:0006355

regulation of transcription, DNA-templated

12077347


check buttonFusion gene breakpoints across ASCC1 (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-CG-4449-01AASCC1chr10

73956569

-CDH23chr10

73537437

+


Top

Fusion Gene ORF analysis for ASCC1-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
5CDS-intronENST00000317126ENST00000224721ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317126ENST00000299366ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317126ENST00000398788ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317126ENST00000398809ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317126ENST00000398842ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317126ENST00000461841ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317126ENST00000475158ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317168ENST00000224721ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317168ENST00000299366ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317168ENST00000398788ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317168ENST00000398809ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317168ENST00000398842ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317168ENST00000461841ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000317168ENST00000475158ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000342444ENST00000224721ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000342444ENST00000299366ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000342444ENST00000398788ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000342444ENST00000398809ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000342444ENST00000398842ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000342444ENST00000461841ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000342444ENST00000475158ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394915ENST00000224721ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394915ENST00000299366ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394915ENST00000398788ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394915ENST00000398809ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394915ENST00000398842ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394915ENST00000461841ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394915ENST00000475158ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394919ENST00000224721ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394919ENST00000299366ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394919ENST00000398788ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394919ENST00000398809ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394919ENST00000398842ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394919ENST00000461841ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000394919ENST00000475158ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000545550ENST00000224721ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000545550ENST00000299366ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000545550ENST00000398788ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000545550ENST00000398809ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000545550ENST00000398842ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000545550ENST00000461841ASCC1chr10

73956569

-CDH23chr10

73537437

+
5CDS-intronENST00000545550ENST00000475158ASCC1chr10

73956569

-CDH23chr10

73537437

+
intron-intronENST00000492502ENST00000224721ASCC1chr10

73956569

-CDH23chr10

73537437

+
intron-intronENST00000492502ENST00000299366ASCC1chr10

73956569

-CDH23chr10

73537437

+
intron-intronENST00000492502ENST00000398788ASCC1chr10

73956569

-CDH23chr10

73537437

+
intron-intronENST00000492502ENST00000398809ASCC1chr10

73956569

-CDH23chr10

73537437

+
intron-intronENST00000492502ENST00000398842ASCC1chr10

73956569

-CDH23chr10

73537437

+
intron-intronENST00000492502ENST00000461841ASCC1chr10

73956569

-CDH23chr10

73537437

+
intron-intronENST00000492502ENST00000475158ASCC1chr10

73956569

-CDH23chr10

73537437

+

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

Top

Fusion Genomic Features for ASCC1-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)
ASCC1chr1073956568-CDH23chr1073537436+3.81E-121
ASCC1chr1073956568-CDH23chr1073537436+3.81E-121

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.
genomic feature of top 1%

Top

Fusion Protein Features for ASCC1-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/:73956569/:73537437)
- 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
ASCC1

Q8N9N2

CDH23

Q9H251

FUNCTION: Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction. {ECO:0000269|PubMed:12077347, ECO:0000269|PubMed:19074642, ECO:0000269|PubMed:26924529, ECO:0000269|PubMed:29997253}.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


Top

Fusion Gene Sequence for ASCC1-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.

Top

Fusion Gene PPI Analysis for ASCC1-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


Top

Related Drugs for ASCC1-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

Top

Related Diseases for ASCC1-CDH23


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