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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ALG13-SCNN1A (FusionGDB2 ID:HG79868TG6337) |
Fusion Gene Summary for ALG13-SCNN1A |
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Fusion gene information | Fusion gene name: ALG13-SCNN1A | Fusion gene ID: hg79868tg6337 | Hgene | Tgene | Gene symbol | ALG13 | SCNN1A | Gene ID | 79868 | 6337 |
Gene name | ALG13 UDP-N-acetylglucosaminyltransferase subunit | sodium channel epithelial 1 subunit alpha | |
Synonyms | CDG1S|CXorf45|EIEE36|GLT28D1|MDS031|TDRD13|YGL047W | BESC2|ENaCa|ENaCalpha|LIDLS3|SCNEA|SCNN1 | |
Cytomap | ('ALG13')('SCNN1A') Xq23 | 12p13.31 | |
Type of gene | protein-coding | protein-coding | |
Description | putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferaseUDP-N-acetylglucosamine transferase subunit ALG13 homologasparagine-linked glycosylation 13 homologg | amiloride-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 date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000251943, ENST00000371979, ENST00000394780, ENST00000470971, | ||
Fusion gene scores | * DoF score | 5 X 4 X 2=40 | 5 X 6 X 4=120 |
# samples | 5 | 6 | |
** MAII score | log2(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 breakpoint | ALG13(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SCNN1A | GO:0035725 | sodium ion transmembrane transport | 24124190 |
Tgene | SCNN1A | GO:0050891 | multicellular organismal water homeostasis | 24124190 |
Tgene | SCNN1A | GO:0055078 | sodium ion homeostasis | 24124190 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-CD-5799-01A | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
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Fusion Gene ORF analysis for ALG13-SCNN1A |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000251943 | ENST00000538979 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-5UTR | ENST00000371979 | ENST00000538979 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-5UTR | ENST00000394780 | ENST00000538979 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000251943 | ENST00000228916 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000251943 | ENST00000358945 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000251943 | ENST00000360168 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000251943 | ENST00000396966 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000251943 | ENST00000540037 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000251943 | ENST00000543768 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000371979 | ENST00000228916 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000371979 | ENST00000358945 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000371979 | ENST00000360168 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000371979 | ENST00000396966 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000371979 | ENST00000540037 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000371979 | ENST00000543768 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000394780 | ENST00000228916 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000394780 | ENST00000358945 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000394780 | ENST00000360168 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000394780 | ENST00000396966 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000394780 | ENST00000540037 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
5CDS-intron | ENST00000394780 | ENST00000543768 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
intron-5UTR | ENST00000470971 | ENST00000538979 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
intron-intron | ENST00000470971 | ENST00000228916 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
intron-intron | ENST00000470971 | ENST00000358945 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
intron-intron | ENST00000470971 | ENST00000360168 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
intron-intron | ENST00000470971 | ENST00000396966 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
intron-intron | ENST00000470971 | ENST00000540037 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
intron-intron | ENST00000470971 | ENST00000543768 | ALG13 | chrX | 110928331 | + | SCNN1A | chr12 | 6465560 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ALG13-SCNN1A |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ALG13-SCNN1A |
![]() 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. |
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Hgene | Tgene |
. | . |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for ALG13-SCNN1A |
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Fusion Gene PPI Analysis for ALG13-SCNN1A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ALG13-SCNN1A |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ALG13-SCNN1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ALG13 | C3550904 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ALG13 | C0543888 | Epileptic encephalopathy | 2 | GENOMICS_ENGLAND |
Hgene | ALG13 | C0014544 | Epilepsy | 1 | CTD_human |
Hgene | ALG13 | C0086237 | Epilepsy, Cryptogenic | 1 | CTD_human |
Hgene | ALG13 | C0236018 | Aura | 1 | CTD_human |
Hgene | ALG13 | C0751111 | Awakening Epilepsy | 1 | CTD_human |
Hgene | ALG13 | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
Hgene | ALG13 | C2931498 | Mental Retardation, X-Linked 1 | 1 | ORPHANET |
Hgene | ALG13 | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
Hgene | ALG13 | C4317295 | Congenital disorder of glycosylation type 1s | 1 | GENOMICS_ENGLAND |
Tgene | C1449843 | Pseudohypoaldosteronism, Type I, Autosomal Recessive | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0010674 | Cystic Fibrosis | 2 | CTD_human | |
Tgene | C0020538 | Hypertensive disease | 2 | CTD_human | |
Tgene | C0024115 | Lung diseases | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0221043 | Liddle Syndrome | 2 | CTD_human;ORPHANET | |
Tgene | C0392164 | Pulmonary Cystic Fibrosis | 2 | CTD_human | |
Tgene | C1527396 | Fibrocystic Disease of Pancreas | 2 | CTD_human | |
Tgene | C2751666 | BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C4748292 | LIDDLE SYNDROME 3 | 2 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0027654 | Embryonal Neoplasm | 1 | CTD_human | |
Tgene | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human | |
Tgene | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human | |
Tgene | C0032914 | Pre-Eclampsia | 1 | CTD_human | |
Tgene | C0033687 | Proteinuria | 1 | CTD_human | |
Tgene | C0033805 | Pseudohypoaldosteronism | 1 | CTD_human | |
Tgene | C0205851 | Germ cell tumor | 1 | CTD_human | |
Tgene | C0205852 | Neoplasms, Embryonal and Mixed | 1 | CTD_human | |
Tgene | C0268436 | Pseudohypoaldosteronism, Type I | 1 | CTD_human | |
Tgene | C0339985 | Idiopathic bronchiectasis | 1 | ORPHANET | |
Tgene | C0740345 | Germ Cell Cancer | 1 | CTD_human | |
Tgene | C0751364 | Cancer, Embryonal | 1 | CTD_human | |
Tgene | C0751365 | Cancer, Embryonal and Mixed | 1 | CTD_human | |
Tgene | C1136382 | Sclerocystic Ovaries | 1 | CTD_human | |
Tgene | C1449842 | Pseudohypoaldosteronism, Type I, Autosomal Dominant | 1 | CTD_human | |
Tgene | C1449844 | Pseudohypoaldosteronism, Type II | 1 | CTD_human | |
Tgene | C2713447 | Hyperpotassemia and Hypertension, Familial | 1 | CTD_human |