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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for SCNN1D |
 Gene summary |
| Gene information | Gene symbol | SCNN1D | Gene ID | 6339 |
| Gene name | sodium channel epithelial 1 delta subunit | |
| Synonyms | ENaCd|ENaCdelta|SCNED|dNaCh | |
| Cytomap | 1p36.33 | |
| Type of gene | protein-coding | |
| Description | amiloride-sensitive sodium channel subunit deltadelta-ENaCdelta-NaCHepithelial Na(+) channel subunit deltanonvoltage-gated sodium channel 1 subunit deltasodium channel, non-voltage-gated 1, delta subunitsodium channel, nonvoltage-gated 1, deltasodi | |
| Modification date | 20180522 | |
| UniProtAcc | P51172 | |
| Context | PubMed: SCNN1D [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for SCNN1D from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for SCNN1D |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SCNN1D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134 | 1 | 1215851:1216046:1216605:1216677:1216790:1216990 | 1216605:1216677 | ENSG00000162572.15 | ENST00000379101.4 |
| exon_skip_159 | 1 | 1216605:1216677:1216790:1216990:1217621:1217695 | 1216790:1216990 | ENSG00000162572.15 | ENST00000379101.4,ENST00000379116.5 |
| exon_skip_168 | 1 | 1217655:1217695:1219357:1219470:1221305:1221548 | 1219357:1219470 | ENSG00000162572.15 | ENST00000400928.3,ENST00000379101.4,ENST00000338555.2 |
| exon_skip_169 | 1 | 1219357:1219470:1220950:1221044:1221305:1221548 | 1220950:1221044 | ENSG00000162572.15 | ENST00000325425.8,ENST00000379116.5 |
| exon_skip_176 | 1 | 1223052:1223216:1223318:1223417:1225650:1225768 | 1223318:1223417 | ENSG00000162572.15 | ENST00000400928.3,ENST00000325425.8,ENST00000379101.4,ENST00000379099.3,ENST00000379116.5,ENST00000338555.2 |
| exon_skip_179 | 1 | 1223318:1223417:1225650:1225768:1225856:1225935 | 1225650:1225768 | ENSG00000162572.15 | ENST00000400928.3,ENST00000325425.8,ENST00000379101.4,ENST00000379099.3,ENST00000379116.5,ENST00000338555.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SCNN1D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_134 | 1 | 1215851:1216046:1216605:1216677:1216790:1216990 | 1216605:1216677 | ENSG00000162572.15 | ENST00000379101.4 |
| exon_skip_159 | 1 | 1216605:1216677:1216790:1216990:1217621:1217695 | 1216790:1216990 | ENSG00000162572.15 | ENST00000379116.5,ENST00000379101.4 |
| exon_skip_168 | 1 | 1217655:1217695:1219357:1219470:1221305:1221548 | 1219357:1219470 | ENSG00000162572.15 | ENST00000379101.4,ENST00000338555.2,ENST00000400928.3 |
| exon_skip_169 | 1 | 1219357:1219470:1220950:1221044:1221305:1221548 | 1220950:1221044 | ENSG00000162572.15 | ENST00000379116.5,ENST00000325425.8 |
| exon_skip_176 | 1 | 1223052:1223216:1223318:1223417:1225650:1225768 | 1223318:1223417 | ENSG00000162572.15 | ENST00000379116.5,ENST00000379101.4,ENST00000338555.2,ENST00000325425.8,ENST00000400928.3,ENST00000379099.3 |
| exon_skip_179 | 1 | 1223318:1223417:1225650:1225768:1225856:1225935 | 1225650:1225768 | ENSG00000162572.15 | ENST00000379116.5,ENST00000379101.4,ENST00000338555.2,ENST00000325425.8,ENST00000400928.3,ENST00000379099.3 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SCNN1D |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000338555 | 1219357 | 1219470 | 5CDS-5UTR |
| ENST00000400928 | 1219357 | 1219470 | 5CDS-5UTR |
| ENST00000338555 | 1225650 | 1225768 | Frame-shift |
| ENST00000400928 | 1225650 | 1225768 | Frame-shift |
| ENST00000338555 | 1223318 | 1223417 | In-frame |
| ENST00000400928 | 1223318 | 1223417 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000338555 | 1219357 | 1219470 | 5CDS-5UTR |
| ENST00000400928 | 1219357 | 1219470 | 5CDS-5UTR |
| ENST00000338555 | 1225650 | 1225768 | Frame-shift |
| ENST00000400928 | 1225650 | 1225768 | Frame-shift |
| ENST00000338555 | 1223318 | 1223417 | In-frame |
| ENST00000400928 | 1223318 | 1223417 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SCNN1D |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000338555 | 3492 | 802 | 1223318 | 1223417 | 2216 | 2314 | 357 | 390 |
| ENST00000400928 | 2520 | 802 | 1223318 | 1223417 | 1239 | 1337 | 357 | 390 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000338555 | 3492 | 802 | 1223318 | 1223417 | 2216 | 2314 | 357 | 390 |
| ENST00000400928 | 2520 | 802 | 1223318 | 1223417 | 1239 | 1337 | 357 | 390 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for SCNN1D |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_168 | 1219358 | 1219470 | 1219428 | 1219428 | Frame_Shift_Del | C | - | p.D8fs |
| HNSC | TCGA-C9-A47Z-01 | exon_skip_168 | 1219358 | 1219470 | 1219451 | 1219451 | Frame_Shift_Del | G | - | p.R16fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_176 | 1223319 | 1223417 | 1223381 | 1223381 | Frame_Shift_Del | G | - | p.E378fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_179 | 1225651 | 1225768 | 1225728 | 1225728 | Frame_Shift_Del | G | - | p.A416fs |
| LUAD | TCGA-44-8119-01 | exon_skip_179 | 1225651 | 1225768 | 1225740 | 1225750 | Frame_Shift_Del | CTGCAGCTCTG | - | p.YCSSA420fs |
| COAD | TCGA-AY-6197-01 | exon_skip_168 | 1219358 | 1219470 | 1219450 | 1219451 | Frame_Shift_Ins | - | G | p.H148fs |
| STAD | TCGA-CG-5733-01 | exon_skip_179 | 1225651 | 1225768 | 1225650 | 1225650 | Splice_Site | G | T | . |
| STAD | TCGA-CG-5733-01 | exon_skip_179 | 1225651 | 1225768 | 1225650 | 1225650 | Splice_Site | G | T | p.A391_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COLO783_SKIN | 1219358 | 1219470 | 1219424 | 1219424 | Missense_Mutation | T | C | p.M7T |
| KYSE140_OESOPHAGUS | 1223319 | 1223417 | 1223361 | 1223361 | Missense_Mutation | G | A | p.A372T |
| EW8_BONE | 1223319 | 1223417 | 1223361 | 1223361 | Missense_Mutation | G | A | p.A372T |
| MALME3M_SKIN | 1223319 | 1223417 | 1223394 | 1223394 | Missense_Mutation | C | G | p.H383D |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1225651 | 1225768 | 1225660 | 1225660 | Missense_Mutation | G | A | p.V394M |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1225651 | 1225768 | 1225718 | 1225718 | Missense_Mutation | C | G | p.P413R |
| MM426_SKIN | 1225651 | 1225768 | 1225729 | 1225729 | Missense_Mutation | G | A | p.G417R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SCNN1D |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SCNN1D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SCNN1D |
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RelatedDrugs for SCNN1D |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P51172 | DB00384 | Triamterene | Amiloride-sensitive sodium channel subunit delta | small molecule | approved | |
| P51172 | DB00594 | Amiloride | Amiloride-sensitive sodium channel subunit delta | small molecule | approved |
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RelatedDiseases for SCNN1D |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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