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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 DSC3 |
 Gene summary |
| Gene information | Gene symbol | DSC3 | Gene ID | 1825 |
| Gene name | desmocollin 3 | |
| Synonyms | CDHF3|DSC|DSC1|DSC2|DSC4|HT-CP | |
| Cytomap | 18q12.1 | |
| Type of gene | protein-coding | |
| Description | desmocollin-3cadherin family member 3desmocollin-4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q14574 | |
| Context | PubMed: DSC3 [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 DSC3 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 DSC3 |
| 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 DSC3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_298692 | 18 | 28574091:28574338:28574419:28574462:28576756:28577014 | 28574419:28574462 | ENSG00000134762.12 | ENST00000584980.1,ENST00000434452.1 |
| exon_skip_298698 | 18 | 28604314:28604459:28605725:28605881:28609474:28609594 | 28605725:28605881 | ENSG00000134762.12 | ENST00000434452.1,ENST00000360428.4 |
| exon_skip_298699 | 18 | 28605725:28605881:28609474:28609594:28610938:28611138 | 28609474:28609594 | ENSG00000134762.12 | ENST00000434452.1,ENST00000360428.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DSC3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_298692 | 18 | 28574091:28574338:28574419:28574462:28576756:28577014 | 28574419:28574462 | ENSG00000134762.12 | ENST00000434452.1,ENST00000584980.1 |
| exon_skip_298698 | 18 | 28604314:28604459:28605725:28605881:28609474:28609594 | 28605725:28605881 | ENSG00000134762.12 | ENST00000360428.4,ENST00000434452.1 |
| exon_skip_298699 | 18 | 28605725:28605881:28609474:28609594:28610938:28611138 | 28609474:28609594 | ENSG00000134762.12 | ENST00000360428.4,ENST00000434452.1 |
| 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 DSC3 |
| 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 |
| ENST00000360428 | 28605725 | 28605881 | In-frame |
| ENST00000360428 | 28609474 | 28609594 | 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 |
| ENST00000360428 | 28605725 | 28605881 | In-frame |
| ENST00000360428 | 28609474 | 28609594 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DSC3 |
| 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 |
| ENST00000360428 | 6956 | 896 | 28609474 | 28609594 | 436 | 555 | 118 | 158 |
| ENST00000360428 | 6956 | 896 | 28605725 | 28605881 | 556 | 711 | 158 | 210 |
| 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 |
| ENST00000360428 | 6956 | 896 | 28609474 | 28609594 | 436 | 555 | 118 | 158 |
| ENST00000360428 | 6956 | 896 | 28605725 | 28605881 | 556 | 711 | 158 | 210 |
| 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 |
| Q14574 | 118 | 158 | 136 | 896 | Chain | ID=PRO_0000003876;Note=Desmocollin-3 |
| Q14574 | 118 | 158 | 136 | 243 | Domain | Note=Cadherin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14574 | 118 | 158 | 28 | 135 | Propeptide | ID=PRO_0000003875;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14574 | 118 | 158 | 136 | 690 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14574 | 158 | 210 | 136 | 896 | Chain | ID=PRO_0000003876;Note=Desmocollin-3 |
| Q14574 | 158 | 210 | 136 | 243 | Domain | Note=Cadherin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14574 | 158 | 210 | 166 | 166 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14574 | 158 | 210 | 180 | 180 | Natural variant | ID=VAR_048518;Note=K->Q;Dbxref=dbSNP:rs35296997 |
| Q14574 | 158 | 210 | 199 | 199 | Natural variant | ID=VAR_048519;Note=R->W;Dbxref=dbSNP:rs276921 |
| Q14574 | 158 | 210 | 136 | 690 | Topological domain | Note=Extracellular;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 |
| Q14574 | 118 | 158 | 136 | 896 | Chain | ID=PRO_0000003876;Note=Desmocollin-3 |
| Q14574 | 118 | 158 | 136 | 243 | Domain | Note=Cadherin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14574 | 118 | 158 | 28 | 135 | Propeptide | ID=PRO_0000003875;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14574 | 118 | 158 | 136 | 690 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14574 | 158 | 210 | 136 | 896 | Chain | ID=PRO_0000003876;Note=Desmocollin-3 |
| Q14574 | 158 | 210 | 136 | 243 | Domain | Note=Cadherin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14574 | 158 | 210 | 166 | 166 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14574 | 158 | 210 | 180 | 180 | Natural variant | ID=VAR_048518;Note=K->Q;Dbxref=dbSNP:rs35296997 |
| Q14574 | 158 | 210 | 199 | 199 | Natural variant | ID=VAR_048519;Note=R->W;Dbxref=dbSNP:rs276921 |
| Q14574 | 158 | 210 | 136 | 690 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for DSC3 |
| - 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_298698 | 28605726 | 28605881 | 28605729 | 28605729 | Frame_Shift_Del | A | - | p.F209fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_298698 | 28605726 | 28605881 | 28605729 | 28605729 | Frame_Shift_Del | A | - | p.F209fs |
| UCEC | TCGA-AP-A056-01 | exon_skip_298698 | 28605726 | 28605881 | 28605815 | 28605815 | Nonsense_Mutation | C | A | p.E181* |
| SKCM | TCGA-ER-A42K-06 | exon_skip_298699 | 28609475 | 28609594 | 28609539 | 28609539 | Nonsense_Mutation | C | T | p.W137* |
| SKCM | TCGA-ER-A42K-06 | exon_skip_298699 | 28609475 | 28609594 | 28609539 | 28609539 | Nonsense_Mutation | C | T | p.W137X |
| OV | TCGA-24-1616-01 | exon_skip_298698 | 28605726 | 28605881 | 28605882 | 28605882 | Splice_Site | C | A | e5-1 |
| - 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 |
| MFE319_ENDOMETRIUM | 28605726 | 28605881 | 28605728 | 28605729 | Frame_Shift_Ins | - | A | p.D210fs |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28605726 | 28605881 | 28605760 | 28605760 | Missense_Mutation | C | T | p.R199Q |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28605726 | 28605881 | 28605764 | 28605764 | Missense_Mutation | T | A | p.T198S |
| IPC298_SKIN | 28605726 | 28605881 | 28605778 | 28605778 | Missense_Mutation | C | T | p.G193E |
| CP66MEL_SKIN | 28605726 | 28605881 | 28605812 | 28605812 | Missense_Mutation | G | A | p.P182S |
| MM127_SKIN | 28605726 | 28605881 | 28605832 | 28605832 | Missense_Mutation | C | T | p.G175E |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28605726 | 28605881 | 28605859 | 28605859 | Missense_Mutation | T | C | p.N166S |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28609475 | 28609594 | 28609497 | 28609497 | Missense_Mutation | G | T | p.P151H |
| DANG_PANCREAS | 28609475 | 28609594 | 28609507 | 28609507 | Missense_Mutation | A | T | p.S148T |
| SNU81_LARGE_INTESTINE | 28609475 | 28609594 | 28609511 | 28609511 | Missense_Mutation | C | A | p.E146D |
| NCIH250_LUNG | 28609475 | 28609594 | 28609527 | 28609527 | Missense_Mutation | G | T | p.P141H |
| SN12C_KIDNEY | 28609475 | 28609594 | 28609548 | 28609548 | Missense_Mutation | T | C | p.K134R |
| HEC6_ENDOMETRIUM | 28609475 | 28609594 | 28609570 | 28609570 | Missense_Mutation | C | T | p.E127K |
| JHUEM7_ENDOMETRIUM | 28605726 | 28605881 | 28605815 | 28605815 | Nonsense_Mutation | C | A | p.E181* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DSC3 |
| 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 DSC3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DSC3 |
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RelatedDrugs for DSC3 |
| 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 DSC3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DSC3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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