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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:CLCN4-CLCN4 (FusionGDB2 ID:HG1183TG1183)

Fusion Gene Summary for CLCN4-CLCN4

check button Fusion gene summary
Fusion gene informationFusion gene name: CLCN4-CLCN4
Fusion gene ID: hg1183tg1183
HgeneTgene
Gene symbol

CLCN4

CLCN4

Gene ID

1183

1183

Gene namechloride voltage-gated channel 4chloride voltage-gated channel 4
SynonymsCLC4|ClC-4|ClC-4A|MRX15|MRX49|MRXSRCCLC4|ClC-4|ClC-4A|MRX15|MRX49|MRXSRC
Cytomap('CLCN4')('CLCN4')

Xp22.2

Xp22.2

Type of geneprotein-codingprotein-coding
DescriptionH(+)/Cl(-) exchange transporter 4chloride channel 4chloride channel protein 4chloride channel, voltage-sensitive 4chloride transporter ClC-4H(+)/Cl(-) exchange transporter 4chloride channel 4chloride channel protein 4chloride channel, voltage-sensitive 4chloride transporter ClC-4
Modification date2020031320200313
UniProtAcc

P51793

P51793

Ensembl transtripts involved in fusion geneENST00000380833, ENST00000380829, 
ENST00000421085, 
ENST00000380833, 
ENST00000380829, ENST00000421085, 
Fusion gene scores* DoF score4 X 4 X 3=486 X 5 X 5=150
# samples 57
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CLCN4 [Title/Abstract] AND CLCN4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCLCN4(10205243)-CLCN4(10205198), # 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
HgeneCLCN4

GO:0006821

chloride transport

10564087

TgeneCLCN4

GO:0006821

chloride transport

10564087



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/AAW900067CLCN4chrX

10205243

-CLCN4chrX

10205198

+


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Fusion Gene ORF analysis for CLCN4-CLCN4

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-3UTRENST00000380833ENST00000380833CLCN4chrX

10205243

-CLCN4chrX

10205198

+
3UTR-intronENST00000380833ENST00000380829CLCN4chrX

10205243

-CLCN4chrX

10205198

+
3UTR-intronENST00000380833ENST00000421085CLCN4chrX

10205243

-CLCN4chrX

10205198

+
intron-3UTRENST00000380829ENST00000380833CLCN4chrX

10205243

-CLCN4chrX

10205198

+
intron-3UTRENST00000421085ENST00000380833CLCN4chrX

10205243

-CLCN4chrX

10205198

+
intron-intronENST00000380829ENST00000380829CLCN4chrX

10205243

-CLCN4chrX

10205198

+
intron-intronENST00000380829ENST00000421085CLCN4chrX

10205243

-CLCN4chrX

10205198

+
intron-intronENST00000421085ENST00000380829CLCN4chrX

10205243

-CLCN4chrX

10205198

+
intron-intronENST00000421085ENST00000421085CLCN4chrX

10205243

-CLCN4chrX

10205198

+

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 CLCN4-CLCN4


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)


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Fusion Protein Features for CLCN4-CLCN4


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/:10205243/:10205198)
- 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
CLCN4

P51793

CLCN4

P51793

FUNCTION: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (PubMed:18063579, PubMed:28972156, PubMed:23647072, PubMed:27550844, PubMed:25644381). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874). {ECO:0000269|PubMed:18063579, ECO:0000269|PubMed:23647072, ECO:0000269|PubMed:25644381, ECO:0000269|PubMed:27550844, ECO:0000269|PubMed:28972156, ECO:0000303|PubMed:29845874}.FUNCTION: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (PubMed:18063579, PubMed:28972156, PubMed:23647072, PubMed:27550844, PubMed:25644381). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874). {ECO:0000269|PubMed:18063579, ECO:0000269|PubMed:23647072, ECO:0000269|PubMed:25644381, ECO:0000269|PubMed:27550844, ECO:0000269|PubMed:28972156, ECO:0000303|PubMed:29845874}.

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 CLCN4-CLCN4


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 CLCN4-CLCN4


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 CLCN4-CLCN4


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 CLCN4-CLCN4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCLCN4C3501611Mental Retardation, X-Linked Nonsyndromic3CLINGEN
HgeneCLCN4C0796221MENTAL RETARDATION, X-LINKED 152CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCLCN4C2931498Mental Retardation, X-Linked 11ORPHANET
TgeneC3501611Mental Retardation, X-Linked Nonsyndromic3CLINGEN
TgeneC0796221MENTAL RETARDATION, X-LINKED 152CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2931498Mental Retardation, X-Linked 11ORPHANET