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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 DDX31 |
 Gene summary |
| Gene information | Gene symbol | DDX31 | Gene ID | 64794 |
| Gene name | DEAD-box helicase 31 | |
| Synonyms | PPP1R25 | |
| Cytomap | 9q34.13 | |
| Type of gene | protein-coding | |
| Description | probable ATP-dependent RNA helicase DDX31DEAD (Asp-Glu-Ala-Asp) box polypeptide 31DEAD box protein 31DEAD/DEXH helicase DDX31DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31G2 helicasehelicainprotein phosphatase 1, regulatory subunit 25 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H8H2 | |
| Context | PubMed: DDX31 [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 DDX31 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 DDX31 |
| 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 DDX31 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_507892 | 9 | 135487473:135487642:135493716:135493828:135501050:135501132 | 135493716:135493828 | ENSG00000125485.13 | ENST00000372159.3,ENST00000438527.3 |
| exon_skip_507897 | 9 | 135493716:135493828:135501050:135501132:135505650:135505765 | 135501050:135501132 | ENSG00000125485.13 | ENST00000372159.3,ENST00000438527.3 |
| exon_skip_507900 | 9 | 135525620:135525685:135526461:135526503:135527834:135527879 | 135526461:135526503 | ENSG00000125485.13 | ENST00000372153.1,ENST00000372159.3,ENST00000438527.3,ENST00000310532.2 |
| exon_skip_507903 | 9 | 135537825:135538082:135544956:135545060:135545246:135545403 | 135544956:135545060 | ENSG00000125485.13 | ENST00000544003.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DDX31 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_507892 | 9 | 135487473:135487642:135493716:135493828:135501050:135501132 | 135493716:135493828 | ENSG00000125485.13 | ENST00000372159.3,ENST00000438527.3 |
| exon_skip_507897 | 9 | 135493716:135493828:135501050:135501132:135505650:135505765 | 135501050:135501132 | ENSG00000125485.13 | ENST00000372159.3,ENST00000438527.3 |
| exon_skip_507900 | 9 | 135525620:135525685:135526461:135526503:135527834:135527879 | 135526461:135526503 | ENSG00000125485.13 | ENST00000372159.3,ENST00000372153.1,ENST00000438527.3,ENST00000310532.2 |
| exon_skip_507903 | 9 | 135537825:135538082:135544956:135545060:135545246:135545403 | 135544956:135545060 | ENSG00000125485.13 | ENST00000544003.1 |
| 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 DDX31 |
| 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 |
| ENST00000372159 | 135493716 | 135493828 | Frame-shift |
| ENST00000372159 | 135501050 | 135501132 | Frame-shift |
| ENST00000372153 | 135526461 | 135526503 | In-frame |
| ENST00000372159 | 135526461 | 135526503 | 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 |
| ENST00000372159 | 135493716 | 135493828 | Frame-shift |
| ENST00000372159 | 135501050 | 135501132 | Frame-shift |
| ENST00000372153 | 135526461 | 135526503 | In-frame |
| ENST00000372159 | 135526461 | 135526503 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DDX31 |
| 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 |
| ENST00000372153 | 3083 | 851 | 135526461 | 135526503 | 1101 | 1142 | 316 | 330 |
| ENST00000372159 | 4594 | 851 | 135526461 | 135526503 | 1101 | 1142 | 316 | 330 |
| 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 |
| ENST00000372153 | 3083 | 851 | 135526461 | 135526503 | 1101 | 1142 | 316 | 330 |
| ENST00000372159 | 4594 | 851 | 135526461 | 135526503 | 1101 | 1142 | 316 | 330 |
| 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 DDX31 |
| - 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-G3-A3CJ-01 | exon_skip_507892 | 135493717 | 135493828 | 135493807 | 135493807 | Frame_Shift_Del | G | - | p.Q684fs |
| STAD | TCGA-BR-8382-01 | exon_skip_507892 | 135493717 | 135493828 | 135493777 | 135493777 | Nonsense_Mutation | G | A | p.Q694* |
| STAD | TCGA-BR-8382-01 | exon_skip_507892 | 135493717 | 135493828 | 135493777 | 135493777 | Nonsense_Mutation | G | A | p.Q694X |
| DLBC | TCGA-G8-6324-01 | exon_skip_507892 | 135493717 | 135493828 | 135493792 | 135493792 | Nonsense_Mutation | G | A | p.R689X |
| - 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 |
| A673_BONE | 135493717 | 135493828 | 135493810 | 135493810 | Missense_Mutation | G | T | p.P683T |
| EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 135501051 | 135501132 | 135501065 | 135501065 | Nonsense_Mutation | G | A | p.R672* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX31 |
| 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 DDX31 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX31 |
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RelatedDrugs for DDX31 |
| 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 DDX31 |
| 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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