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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 DDX20 |
 Gene summary |
| Gene information | Gene symbol | DDX20 | Gene ID | 11218 |
| Gene name | DEAD-box helicase 20 | |
| Synonyms | DP103|GEMIN3 | |
| Cytomap | 1p13.2 | |
| Type of gene | protein-coding | |
| Description | probable ATP-dependent RNA helicase DDX20DEAD (Asp-Glu-Ala-Asp) box polypeptide 20DEAD box protein 20DEAD box protein DP 103DEAD-box protein DP103DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kDSMN-interacting proteincomponent of gems 3gemin | |
| Modification date | 20180522 | |
| UniProtAcc | Q9UHI6 | |
| Context | PubMed: DDX20 [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 |
| DDX20 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12007404 |
| DDX20 | GO:0000387 | spliceosomal snRNP assembly | 18984161 |
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Exon skipping events across known transcript of Ensembl for DDX20 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 DDX20 |
| 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 DDX20 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_8908 | 1 | 112299267:112299362:112302021:112302190:112303095:112303210 | 112302021:112302190 | ENSG00000064703.7 | ENST00000369702.4 |
| exon_skip_8911 | 1 | 112303327:112303470:112303608:112303747:112303847:112303906 | 112303608:112303747 | ENSG00000064703.7 | ENST00000533164.1,ENST00000369702.4,ENST00000536167.1 |
| exon_skip_8912 | 1 | 112303847:112303906:112304876:112304959:112305298:112305404 | 112304876:112304959 | ENSG00000064703.7 | ENST00000533164.1,ENST00000369702.4,ENST00000536167.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DDX20 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_8908 | 1 | 112299267:112299362:112302021:112302190:112303095:112303210 | 112302021:112302190 | ENSG00000064703.7 | ENST00000369702.4 |
| exon_skip_8911 | 1 | 112303327:112303470:112303608:112303747:112303847:112303906 | 112303608:112303747 | ENSG00000064703.7 | ENST00000533164.1,ENST00000369702.4,ENST00000536167.1 |
| exon_skip_8912 | 1 | 112303847:112303906:112304876:112304959:112305298:112305404 | 112304876:112304959 | ENSG00000064703.7 | ENST00000533164.1,ENST00000369702.4,ENST00000536167.1 |
| 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 DDX20 |
| 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 |
| ENST00000369702 | 112302021 | 112302190 | Frame-shift |
| ENST00000369702 | 112303608 | 112303747 | Frame-shift |
| ENST00000369702 | 112304876 | 112304959 | Frame-shift |
| 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 |
| ENST00000369702 | 112302021 | 112302190 | Frame-shift |
| ENST00000369702 | 112303608 | 112303747 | Frame-shift |
| ENST00000369702 | 112304876 | 112304959 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for DDX20 |
| 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 |
| 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 |
| 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 DDX20 |
| - 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-A3A0-01 | exon_skip_8911 | 112303609 | 112303747 | 112303721 | 112303721 | Frame_Shift_Del | T | - | p.A312fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_8912 | 112304877 | 112304959 | 112304946 | 112304946 | Frame_Shift_Del | T | - | p.I364fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_8912 | 112304877 | 112304959 | 112304946 | 112304946 | Frame_Shift_Del | T | - | p.I364fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_8912 | 112304877 | 112304959 | 112304946 | 112304946 | Frame_Shift_Del | T | - | p.I364fs |
| CESC | TCGA-JW-A5VL-01 | exon_skip_8911 | 112303609 | 112303747 | 112303677 | 112303677 | Nonsense_Mutation | C | T | p.Q298* |
| HNSC | TCGA-CN-A641-01 | exon_skip_8912 | 112304877 | 112304959 | 112304936 | 112304936 | Nonsense_Mutation | A | T | p.R361* |
| - 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 |
| HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112302022 | 112302190 | 112302135 | 112302135 | Frame_Shift_Del | A | - | p.P170fs |
| HEC1A_ENDOMETRIUM | 112302022 | 112302190 | 112302046 | 112302046 | Missense_Mutation | G | A | p.E141K |
| HCT15_LARGE_INTESTINE | 112302022 | 112302190 | 112302172 | 112302172 | Missense_Mutation | A | G | p.I183V |
| MCAS_OVARY | 112303609 | 112303747 | 112303637 | 112303637 | Missense_Mutation | T | A | p.N284K |
| SISO_CERVIX | 112303609 | 112303747 | 112303610 | 112303610 | Splice_Site | T | G | p.G275G |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112303609 | 112303747 | 112303610 | 112303610 | Splice_Site | T | G | p.G275G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX20 |
| 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 DDX20 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX20 |
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RelatedDrugs for DDX20 |
| 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 DDX20 |
| 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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