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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 DDX59 |
 Gene summary |
| Gene information | Gene symbol | DDX59 | Gene ID | 83479 |
| Gene name | DEAD-box helicase 59 | |
| Synonyms | OFD5|ZNHIT5 | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | probable ATP-dependent RNA helicase DDX59DEAD (Asp-Glu-Ala-Asp) box polypeptide 59DEAD box protein 59zinc finger HIT domain-containing protein 5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5T1V6 | |
| Context | PubMed: DDX59 [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 DDX59 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 DDX59 |
| 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 DDX59 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35228 | 1 | 200609938:200610313:200617566:200617695:200618201:200618277 | 200617566:200617695 | ENSG00000118197.9 | ENST00000452560.1 |
| exon_skip_35229 | 1 | 200610118:200610384:200617566:200617695:200618201:200618277 | 200617566:200617695 | ENSG00000118197.9 | ENST00000413408.1,ENST00000367348.3 |
| exon_skip_35230 | 1 | 200613496:200613645:200617566:200617695:200618201:200618277 | 200617566:200617695 | ENSG00000118197.9 | ENST00000429498.1,ENST00000331314.6,ENST00000433235.1 |
| exon_skip_35242 | 1 | 200618201:200618354:200619552:200619804:200623568:200623678 | 200619552:200619804 | ENSG00000118197.9 | ENST00000433235.1 |
| exon_skip_35244 | 1 | 200618201:200618354:200619552:200619804:200628154:200628244 | 200619552:200619804 | ENSG00000118197.9 | ENST00000447706.2,ENST00000367348.3,ENST00000331314.6 |
| exon_skip_35265 | 1 | 200619618:200619804:200623568:200623678:200623933:200623997 | 200623568:200623678 | ENSG00000118197.9 | ENST00000453944.1 |
| exon_skip_35267 | 1 | 200619618:200619804:200623568:200623710:200623933:200623997 | 200623568:200623710 | ENSG00000118197.9 | ENST00000433235.1 |
| exon_skip_35269 | 1 | 200619618:200619804:200628154:200628244:200633046:200633092 | 200628154:200628244 | ENSG00000118197.9 | ENST00000447706.2,ENST00000367348.3,ENST00000331314.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DDX59 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_35228 | 1 | 200609938:200610313:200617566:200617695:200618201:200618277 | 200617566:200617695 | ENSG00000118197.9 | ENST00000452560.1 |
| exon_skip_35229 | 1 | 200610118:200610384:200617566:200617695:200618201:200618277 | 200617566:200617695 | ENSG00000118197.9 | ENST00000413408.1,ENST00000367348.3 |
| exon_skip_35230 | 1 | 200613496:200613645:200617566:200617695:200618201:200618277 | 200617566:200617695 | ENSG00000118197.9 | ENST00000331314.6,ENST00000429498.1,ENST00000433235.1 |
| exon_skip_35242 | 1 | 200618201:200618354:200619552:200619804:200623568:200623678 | 200619552:200619804 | ENSG00000118197.9 | ENST00000433235.1 |
| exon_skip_35244 | 1 | 200618201:200618354:200619552:200619804:200628154:200628244 | 200619552:200619804 | ENSG00000118197.9 | ENST00000447706.2,ENST00000367348.3,ENST00000331314.6 |
| exon_skip_35265 | 1 | 200619618:200619804:200623568:200623678:200623933:200623997 | 200623568:200623678 | ENSG00000118197.9 | ENST00000453944.1 |
| exon_skip_35267 | 1 | 200619618:200619804:200623568:200623710:200623933:200623997 | 200623568:200623710 | ENSG00000118197.9 | ENST00000433235.1 |
| exon_skip_35269 | 1 | 200619618:200619804:200628154:200628244:200633046:200633092 | 200628154:200628244 | ENSG00000118197.9 | ENST00000447706.2,ENST00000367348.3,ENST00000331314.6 |
| 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 DDX59 |
| 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 |
| ENST00000331314 | 200617566 | 200617695 | In-frame |
| ENST00000331314 | 200619552 | 200619804 | In-frame |
| ENST00000331314 | 200628154 | 200628244 | 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 |
| ENST00000331314 | 200617566 | 200617695 | In-frame |
| ENST00000331314 | 200619552 | 200619804 | In-frame |
| ENST00000331314 | 200628154 | 200628244 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DDX59 |
| 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 |
| ENST00000331314 | 2306 | 619 | 200628154 | 200628244 | 1187 | 1276 | 324 | 354 |
| ENST00000331314 | 2306 | 619 | 200619552 | 200619804 | 1277 | 1528 | 354 | 438 |
| ENST00000331314 | 2306 | 619 | 200617566 | 200617695 | 1682 | 1810 | 489 | 532 |
| 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 |
| ENST00000331314 | 2306 | 619 | 200628154 | 200628244 | 1187 | 1276 | 324 | 354 |
| ENST00000331314 | 2306 | 619 | 200619552 | 200619804 | 1277 | 1528 | 354 | 438 |
| ENST00000331314 | 2306 | 619 | 200617566 | 200617695 | 1682 | 1810 | 489 | 532 |
| 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 |
| Q5T1V6 | 324 | 354 | 1 | 619 | Chain | ID=PRO_0000282713;Note=Probable ATP-dependent RNA helicase DDX59 |
| Q5T1V6 | 324 | 354 | 234 | 405 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q5T1V6 | 324 | 354 | 353 | 356 | Motif | Note=DEAD box |
| Q5T1V6 | 354 | 438 | 1 | 619 | Chain | ID=PRO_0000282713;Note=Probable ATP-dependent RNA helicase DDX59 |
| Q5T1V6 | 354 | 438 | 234 | 405 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q5T1V6 | 354 | 438 | 416 | 579 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| Q5T1V6 | 354 | 438 | 353 | 356 | Motif | Note=DEAD box |
| Q5T1V6 | 354 | 438 | 367 | 367 | Natural variant | ID=VAR_070198;Note=In OFD5%3B markedly reduced expression in fibroblasts compared to wild-type protein%3B impaired SHH signaling in SAG-treated fibroblasts. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23972372;Dbxref=dbSNP:rs587777067,PMID: |
| Q5T1V6 | 489 | 532 | 1 | 619 | Chain | ID=PRO_0000282713;Note=Probable ATP-dependent RNA helicase DDX59 |
| Q5T1V6 | 489 | 532 | 416 | 579 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| 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 |
| Q5T1V6 | 324 | 354 | 1 | 619 | Chain | ID=PRO_0000282713;Note=Probable ATP-dependent RNA helicase DDX59 |
| Q5T1V6 | 324 | 354 | 234 | 405 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q5T1V6 | 324 | 354 | 353 | 356 | Motif | Note=DEAD box |
| Q5T1V6 | 354 | 438 | 1 | 619 | Chain | ID=PRO_0000282713;Note=Probable ATP-dependent RNA helicase DDX59 |
| Q5T1V6 | 354 | 438 | 234 | 405 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q5T1V6 | 354 | 438 | 416 | 579 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| Q5T1V6 | 354 | 438 | 353 | 356 | Motif | Note=DEAD box |
| Q5T1V6 | 354 | 438 | 367 | 367 | Natural variant | ID=VAR_070198;Note=In OFD5%3B markedly reduced expression in fibroblasts compared to wild-type protein%3B impaired SHH signaling in SAG-treated fibroblasts. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23972372;Dbxref=dbSNP:rs587777067,PMID: |
| Q5T1V6 | 489 | 532 | 1 | 619 | Chain | ID=PRO_0000282713;Note=Probable ATP-dependent RNA helicase DDX59 |
| Q5T1V6 | 489 | 532 | 416 | 579 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
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SNVs in the skipped exons for DDX59 |
| - 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_35228 exon_skip_35229 exon_skip_35230 | 200617567 | 200617695 | 200617603 | 200617603 | Frame_Shift_Del | A | - | p.F520fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_35244 exon_skip_35242 | 200619553 | 200619804 | 200619627 | 200619627 | Frame_Shift_Del | A | - | p.C414fs |
| HNSC | TCGA-RS-A6TP-01 | exon_skip_35244 exon_skip_35242 | 200619553 | 200619804 | 200619732 | 200619732 | Nonsense_Mutation | G | A | p.Q379* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-RS-A6TP-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_35242 | |
| Skipped exon start: 200619553 | |
| Skipped exon end: 200619804 | |
| Mutation start: 200619732 | |
| Mutation end: 200619732 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q379* | |
exon_skip_35244_HNSC_TCGA-RS-A6TP-01.png | |
| - 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 |
| MELJUSO_SKIN | 200619553 | 200619804 | 200619557 | 200619557 | Frame_Shift_Del | A | - | p.L437fs |
| TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 200617567 | 200617695 | 200617589 | 200617589 | Missense_Mutation | C | T | p.S525N |
| GIMEN_AUTONOMIC_GANGLIA | 200619553 | 200619804 | 200619583 | 200619584 | Missense_Mutation | GG | TT | p.A428E |
| SNU1040_LARGE_INTESTINE | 200619553 | 200619804 | 200619585 | 200619585 | Missense_Mutation | C | T | p.A428T |
| SNU1077_ENDOMETRIUM | 200619553 | 200619804 | 200619591 | 200619591 | Missense_Mutation | C | T | p.D426N |
| SNU81_LARGE_INTESTINE | 200619553 | 200619804 | 200619591 | 200619591 | Missense_Mutation | C | A | p.D426Y |
| NB17_AUTONOMIC_GANGLIA | 200619553 | 200619804 | 200619697 | 200619697 | Missense_Mutation | G | T | p.S390R |
| PANC0403_PANCREAS | 200619553 | 200619804 | 200619723 | 200619723 | Missense_Mutation | A | T | p.L382M |
| HT115_LARGE_INTESTINE | 200628155 | 200628244 | 200628223 | 200628223 | Nonsense_Mutation | G | A | p.R332* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX59 |
| 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 DDX59 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX59 |
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RelatedDrugs for DDX59 |
| 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 DDX59 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DDX59 | C1868118 | Orofaciodigital syndrome 5 | 1 | ORPHANET;UNIPROT |
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