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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 DDX19B |
 Gene summary |
| Gene information | Gene symbol | DDX19B | Gene ID | 11269 |
| Gene name | DEAD-box helicase 19B | |
| Synonyms | DBP5|DDX19|RNAh | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | ATP-dependent RNA helicase DDX19BATP-dependent RNA helicase DDX19DEAD (Asp-Glu-Ala-As) box polypeptide 19BDEAD (Asp-Glu-Ala-Asp) box polypeptide 19BDEAD box protein 19BDEAD-box RNA helicase DEAD5DEAD-box protein 5DEAD/H (Asp-Glu-Ala-Asp/His) box po | |
| Modification date | 20180522 | |
| UniProtAcc | Q9UMR2 | |
| Context | PubMed: DDX19B [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 DDX19B 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 DDX19B |
| 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 DDX19B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138326 | 16 | 70349871:70350007:70351398:70351491:70358487:70358590 | 70351398:70351491 | ENSG00000157349.11 | ENST00000566216.1,ENST00000393657.2,ENST00000568625.1,ENST00000568460.1,ENST00000563206.1,ENST00000563392.1,ENST00000288071.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DDX19B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138325 | 16 | 70328735:70328969:70346511:70346560:70348804:70348858 | 70346511:70346560 | ENSG00000157349.11 | ENST00000569099.2 |
| exon_skip_138326 | 16 | 70349871:70350007:70351398:70351491:70358487:70358590 | 70351398:70351491 | ENSG00000157349.11 | ENST00000566216.1,ENST00000563392.1,ENST00000563206.1,ENST00000568625.1,ENST00000288071.6,ENST00000393657.2,ENST00000568460.1 |
| 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 DDX19B |
| 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 |
| ENST00000288071 | 70351398 | 70351491 | 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 |
| ENST00000288071 | 70351398 | 70351491 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DDX19B |
| 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 |
| ENST00000288071 | 3403 | 479 | 70351398 | 70351491 | 542 | 634 | 99 | 129 |
| 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 |
| ENST00000288071 | 3403 | 479 | 70351398 | 70351491 | 542 | 634 | 99 | 129 |
| 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 |
| Q9UMR2 | 99 | 129 | 1 | 109 | Alternative sequence | ID=VSP_041347;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12219940,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:12219940,PMID:14702039,PMID:15489334 |
| Q9UMR2 | 99 | 129 | 100 | 130 | Alternative sequence | ID=VSP_015239;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:14702039,ECO:0000303|Ref.4;Dbxref=PMID:11230166,PMID:14702039 |
| Q9UMR2 | 99 | 129 | 128 | 130 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FHT |
| Q9UMR2 | 99 | 129 | 119 | 119 | Binding site | Note=ATP |
| Q9UMR2 | 99 | 129 | 2 | 479 | Chain | ID=PRO_0000055022;Note=ATP-dependent RNA helicase DDX19B |
| Q9UMR2 | 99 | 129 | 125 | 295 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q9UMR2 | 99 | 129 | 101 | 109 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FHT |
| Q9UMR2 | 99 | 129 | 117 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FHT |
| Q9UMR2 | 99 | 129 | 92 | 120 | Motif | Note=Q motif |
| Q9UMR2 | 99 | 129 | 2 | 300 | Region | Note=N-terminal lobe |
| Q9UMR2 | 99 | 129 | 128 | 128 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UMR2 | 99 | 129 | 1 | 109 | Alternative sequence | ID=VSP_041347;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12219940,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:12219940,PMID:14702039,PMID:15489334 |
| Q9UMR2 | 99 | 129 | 100 | 130 | Alternative sequence | ID=VSP_015239;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:14702039,ECO:0000303|Ref.4;Dbxref=PMID:11230166,PMID:14702039 |
| Q9UMR2 | 99 | 129 | 128 | 130 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FHT |
| Q9UMR2 | 99 | 129 | 119 | 119 | Binding site | Note=ATP |
| Q9UMR2 | 99 | 129 | 2 | 479 | Chain | ID=PRO_0000055022;Note=ATP-dependent RNA helicase DDX19B |
| Q9UMR2 | 99 | 129 | 125 | 295 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q9UMR2 | 99 | 129 | 101 | 109 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FHT |
| Q9UMR2 | 99 | 129 | 117 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FHT |
| Q9UMR2 | 99 | 129 | 92 | 120 | Motif | Note=Q motif |
| Q9UMR2 | 99 | 129 | 2 | 300 | Region | Note=N-terminal lobe |
| Q9UMR2 | 99 | 129 | 128 | 128 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for DDX19B |
| - 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 |
| ESCA | TCGA-L5-A43J-01 | exon_skip_138326 | 70351399 | 70351491 | 70351424 | 70351425 | Frame_Shift_Del | TA | - | p.107_108del |
| ESCA | TCGA-L5-A43J-01 | exon_skip_138326 | 70351399 | 70351491 | 70351424 | 70351425 | Frame_Shift_Del | TA | - | p.Y108fs |
| - 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 |
| NCIH2170_LUNG | 70351399 | 70351491 | 70351418 | 70351418 | Missense_Mutation | G | A | p.G106R |
| CW2_LARGE_INTESTINE | 70351399 | 70351491 | 70351418 | 70351418 | Nonsense_Mutation | G | T | p.G106* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX19B |
| 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 DDX19B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX19B |
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RelatedDrugs for DDX19B |
| 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 DDX19B |
| 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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