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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:ALG13-SCNN1A (FusionGDB2 ID:HG79868TG6337)

Fusion Gene Summary for ALG13-SCNN1A

check button Fusion gene summary
Fusion gene informationFusion gene name: ALG13-SCNN1A
Fusion gene ID: hg79868tg6337
HgeneTgene
Gene symbol

ALG13

SCNN1A

Gene ID

79868

6337

Gene nameALG13 UDP-N-acetylglucosaminyltransferase subunitsodium channel epithelial 1 subunit alpha
SynonymsCDG1S|CXorf45|EIEE36|GLT28D1|MDS031|TDRD13|YGL047WBESC2|ENaCa|ENaCalpha|LIDLS3|SCNEA|SCNN1
Cytomap('ALG13')('SCNN1A')

Xq23

12p13.31

Type of geneprotein-codingprotein-coding
Descriptionputative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferaseUDP-N-acetylglucosamine transferase subunit ALG13 homologasparagine-linked glycosylation 13 homologgamiloride-sensitive sodium channel subunit alphaalpha ENaC-2alpha-ENaCalpha-NaCHamiloride-sensitive epithelial sodium channel alpha subunitamiloride-sensitive sodium channel subunit alpha 2epithelial Na(+) channel subunit alphanasal epithelial sodi
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000251943, ENST00000371979, 
ENST00000394780, ENST00000470971, 
Fusion gene scores* DoF score5 X 4 X 2=405 X 6 X 4=120
# samples 56
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALG13 [Title/Abstract] AND SCNN1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALG13(110928331)-SCNN1A(6465560), # 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
TgeneSCNN1A

GO:0035725

sodium ion transmembrane transport

24124190

TgeneSCNN1A

GO:0050891

multicellular organismal water homeostasis

24124190

TgeneSCNN1A

GO:0055078

sodium ion homeostasis

24124190



check button Fusion gene information
* 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-CD-5799-01AALG13chrX

110928331

+SCNN1Achr12

6465560

-


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Fusion Gene ORF analysis for ALG13-SCNN1A

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-5UTRENST00000251943ENST00000538979ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-5UTRENST00000371979ENST00000538979ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-5UTRENST00000394780ENST00000538979ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000251943ENST00000228916ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000251943ENST00000358945ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000251943ENST00000360168ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000251943ENST00000396966ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000251943ENST00000540037ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000251943ENST00000543768ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000371979ENST00000228916ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000371979ENST00000358945ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000371979ENST00000360168ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000371979ENST00000396966ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000371979ENST00000540037ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000371979ENST00000543768ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000394780ENST00000228916ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000394780ENST00000358945ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000394780ENST00000360168ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000394780ENST00000396966ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000394780ENST00000540037ALG13chrX

110928331

+SCNN1Achr12

6465560

-
5CDS-intronENST00000394780ENST00000543768ALG13chrX

110928331

+SCNN1Achr12

6465560

-
intron-5UTRENST00000470971ENST00000538979ALG13chrX

110928331

+SCNN1Achr12

6465560

-
intron-intronENST00000470971ENST00000228916ALG13chrX

110928331

+SCNN1Achr12

6465560

-
intron-intronENST00000470971ENST00000358945ALG13chrX

110928331

+SCNN1Achr12

6465560

-
intron-intronENST00000470971ENST00000360168ALG13chrX

110928331

+SCNN1Achr12

6465560

-
intron-intronENST00000470971ENST00000396966ALG13chrX

110928331

+SCNN1Achr12

6465560

-
intron-intronENST00000470971ENST00000540037ALG13chrX

110928331

+SCNN1Achr12

6465560

-
intron-intronENST00000470971ENST00000543768ALG13chrX

110928331

+SCNN1Achr12

6465560

-

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 ALG13-SCNN1A


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 ALG13-SCNN1A


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/:110928331/:6465560)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 ALG13-SCNN1A


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 ALG13-SCNN1A


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 ALG13-SCNN1A


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 ALG13-SCNN1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALG13C3550904EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 366CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneALG13C0543888Epileptic encephalopathy2GENOMICS_ENGLAND
HgeneALG13C0014544Epilepsy1CTD_human
HgeneALG13C0086237Epilepsy, Cryptogenic1CTD_human
HgeneALG13C0236018Aura1CTD_human
HgeneALG13C0751111Awakening Epilepsy1CTD_human
HgeneALG13C1535926Neurodevelopmental Disorders1CTD_human
HgeneALG13C2931498Mental Retardation, X-Linked 11ORPHANET
HgeneALG13C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneALG13C4317295Congenital disorder of glycosylation type 1s1GENOMICS_ENGLAND
TgeneC1449843Pseudohypoaldosteronism, Type I, Autosomal Recessive7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0010674Cystic Fibrosis2CTD_human
TgeneC0020538Hypertensive disease2CTD_human
TgeneC0024115Lung diseases2CTD_human;GENOMICS_ENGLAND
TgeneC0221043Liddle Syndrome2CTD_human;ORPHANET
TgeneC0392164Pulmonary Cystic Fibrosis2CTD_human
TgeneC1527396Fibrocystic Disease of Pancreas2CTD_human
TgeneC2751666BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 22CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4748292LIDDLE SYNDROME 32GENOMICS_ENGLAND;UNIPROT
TgeneC0027654Embryonal Neoplasm1CTD_human
TgeneC0027658Neoplasms, Germ Cell and Embryonal1CTD_human
TgeneC0032460Polycystic Ovary Syndrome1CTD_human
TgeneC0032914Pre-Eclampsia1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0033805Pseudohypoaldosteronism1CTD_human
TgeneC0205851Germ cell tumor1CTD_human
TgeneC0205852Neoplasms, Embryonal and Mixed1CTD_human
TgeneC0268436Pseudohypoaldosteronism, Type I1CTD_human
TgeneC0339985Idiopathic bronchiectasis1ORPHANET
TgeneC0740345Germ Cell Cancer1CTD_human
TgeneC0751364Cancer, Embryonal1CTD_human
TgeneC0751365Cancer, Embryonal and Mixed1CTD_human
TgeneC1136382Sclerocystic Ovaries1CTD_human
TgeneC1449842Pseudohypoaldosteronism, Type I, Autosomal Dominant1CTD_human
TgeneC1449844Pseudohypoaldosteronism, Type II1CTD_human
TgeneC2713447Hyperpotassemia and Hypertension, Familial1CTD_human