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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 DSC1 |
 Gene summary |
| Gene information | Gene symbol | DSC1 | Gene ID | 1823 |
| Gene name | desmocollin 1 | |
| Synonyms | CDHF1|DG2/DG3 | |
| Cytomap | 18q12.1 | |
| Type of gene | protein-coding | |
| Description | desmocollin-1cadherin family member 1desmosomal glycoprotein 2/3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q08554 | |
| Context | PubMed: DSC1 [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 DSC1 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 DSC1 |
| 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 DSC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_298715 | 18 | 28709198:28710674:28710755:28710801:28711556:28711805 | 28710755:28710801 | ENSG00000134765.5 | ENST00000257197.3 |
| exon_skip_298716 | 18 | 28712530:28712652:28713853:28714093:28714534:28714747 | 28713853:28714093 | ENSG00000134765.5 | ENST00000257198.5,ENST00000257197.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DSC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_298715 | 18 | 28709198:28710674:28710755:28710801:28711556:28711805 | 28710755:28710801 | ENSG00000134765.5 | ENST00000257197.3 |
| exon_skip_298716 | 18 | 28712530:28712652:28713853:28714093:28714534:28714747 | 28713853:28714093 | ENSG00000134765.5 | ENST00000257197.3,ENST00000257198.5 |
| 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 DSC1 |
| 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 |
| ENST00000257198 | 28713853 | 28714093 | 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 |
| ENST00000257198 | 28713853 | 28714093 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DSC1 |
| 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 |
| ENST00000257198 | 4242 | 894 | 28713853 | 28714093 | 2139 | 2378 | 625 | 705 |
| 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 |
| ENST00000257198 | 4242 | 894 | 28713853 | 28714093 | 2139 | 2378 | 625 | 705 |
| 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 |
| Q08554 | 625 | 705 | 624 | 627 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 629 | 633 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 639 | 649 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 655 | 664 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 135 | 894 | Chain | ID=PRO_0000003864;Note=Desmocollin-1 |
| Q08554 | 625 | 705 | 576 | 682 | Domain | Note=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q08554 | 625 | 705 | 135 | 691 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q08554 | 625 | 705 | 692 | 714 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q08554 | 625 | 705 | 624 | 627 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 629 | 633 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 639 | 649 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 655 | 664 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5IRY |
| Q08554 | 625 | 705 | 135 | 894 | Chain | ID=PRO_0000003864;Note=Desmocollin-1 |
| Q08554 | 625 | 705 | 576 | 682 | Domain | Note=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q08554 | 625 | 705 | 135 | 691 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q08554 | 625 | 705 | 692 | 714 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for DSC1 |
| - 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-A1EG-01 | exon_skip_298716 | 28713854 | 28714093 | 28713893 | 28713893 | Frame_Shift_Del | C | - | p.A693fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_298716 | 28713854 | 28714093 | 28713913 | 28713913 | Frame_Shift_Del | T | - | p.N686fs |
| LUAD | TCGA-73-4668-01 | exon_skip_298716 | 28713854 | 28714093 | 28713983 | 28713983 | Nonsense_Mutation | T | A | p.R663* |
| CHOL | TCGA-3X-AAVC-01 | exon_skip_298715 | 28710756 | 28710801 | 28710755 | 28710755 | Splice_Site | C | T | . |
| - 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 |
| LIM1215_LARGE_INTESTINE | 28713854 | 28714093 | 28713898 | 28713898 | Missense_Mutation | C | T | p.R691K |
| LN215_CENTRAL_NERVOUS_SYSTEM | 28713854 | 28714093 | 28714027 | 28714027 | Missense_Mutation | A | G | p.I648T |
| GIMEN_AUTONOMIC_GANGLIA | 28713854 | 28714093 | 28714048 | 28714048 | Missense_Mutation | T | A | p.Y641F |
| SNUC4_LARGE_INTESTINE | 28713854 | 28714093 | 28714069 | 28714069 | Missense_Mutation | C | T | p.R634Q |
| MM127_SKIN | 28713854 | 28714093 | 28714076 | 28714076 | Missense_Mutation | G | A | p.R632C |
| HS888T_FIBROBLAST | 28713854 | 28714093 | 28714079 | 28714079 | Missense_Mutation | G | A | p.L631F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DSC1 |
| 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 DSC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DSC1 |
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RelatedDrugs for DSC1 |
| 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 |
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RelatedDiseases for DSC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DSC1 | C0025202 | melanoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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