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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 DDX46 |
 Gene summary |
| Gene information | Gene symbol | DDX46 | Gene ID | 9879 |
| Gene name | DEAD-box helicase 46 | |
| Synonyms | PRPF5|Prp5 | |
| Cytomap | 5q31.1 | |
| Type of gene | protein-coding | |
| Description | probable ATP-dependent RNA helicase DDX46DEAD (Asp-Glu-Ala-Asp) box polypeptide 46DEAD box protein 46PRP5 homologPrp5-like DEAD-box proteinRNA helicase | |
| Modification date | 20180519 | |
| UniProtAcc | Q7L014 | |
| Context | PubMed: DDX46 [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 DDX46 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 DDX46 |
| 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 DDX46 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_437519 | 5 | 134094493:134094645:134099593:134099782:134102606:134102750 | 134099593:134099782 | ENSG00000145833.11 | ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437521 | 5 | 134099593:134099782:134102606:134102750:134106592:134106689 | 134102606:134102750 | ENSG00000145833.11 | ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437523 | 5 | 134102606:134102750:134106592:134106689:134109385:134109551 | 134106592:134106689 | ENSG00000145833.11 | ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437525 | 5 | 134106592:134106689:134109385:134109551:134113263:134113415 | 134109385:134109551 | ENSG00000145833.11 | ENST00000452510.2,ENST00000507392.1,ENST00000354283.4 |
| exon_skip_437528 | 5 | 134109474:134109551:134113263:134113415:134116822:134116936 | 134113263:134113415 | ENSG00000145833.11 | ENST00000452510.2,ENST00000507392.1,ENST00000354283.4 |
| exon_skip_437529 | 5 | 134116830:134116936:134117610:134117776:134118634:134118755 | 134117610:134117776 | ENSG00000145833.11 | ENST00000452510.2,ENST00000507392.1,ENST00000354283.4 |
| exon_skip_437530 | 5 | 134117759:134117776:134118634:134118755:134120055:134120231 | 134118634:134118755 | ENSG00000145833.11 | ENST00000452510.2,ENST00000507392.1,ENST00000354283.4,ENST00000509178.1 |
| exon_skip_437532 | 5 | 134117759:134117776:134120055:134120231:134121154:134121276 | 134120055:134120231 | ENSG00000145833.11 | ENST00000513592.1 |
| exon_skip_437533 | 5 | 134118634:134118755:134120055:134120231:134121154:134121276 | 134120055:134120231 | ENSG00000145833.11 | ENST00000452510.2,ENST00000507392.1,ENST00000354283.4,ENST00000509178.1 |
| exon_skip_437541 | 5 | 134124202:134124281:134124905:134124954:134126159:134126242 | 134124905:134124954 | ENSG00000145833.11 | ENST00000509178.1 |
| exon_skip_437542 | 5 | 134124202:134124281:134125795:134125912:134126159:134126242 | 134125795:134125912 | ENSG00000145833.11 | ENST00000507392.1 |
| exon_skip_437545 | 5 | 134154605:134154694:134162636:134162710:134164348:134164436 | 134162636:134162710 | ENSG00000145833.11 | ENST00000452510.2,ENST00000507392.1,ENST00000354283.4,ENST00000503946.1,ENST00000507053.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DDX46 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_437519 | 5 | 134094493:134094645:134099593:134099782:134102606:134102750 | 134099593:134099782 | ENSG00000145833.11 | ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437521 | 5 | 134099593:134099782:134102606:134102750:134106592:134106689 | 134102606:134102750 | ENSG00000145833.11 | ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437523 | 5 | 134102606:134102750:134106592:134106689:134109385:134109551 | 134106592:134106689 | ENSG00000145833.11 | ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437525 | 5 | 134106592:134106689:134109385:134109551:134113263:134113415 | 134109385:134109551 | ENSG00000145833.11 | ENST00000507392.1,ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437528 | 5 | 134109474:134109551:134113263:134113415:134116822:134116936 | 134113263:134113415 | ENSG00000145833.11 | ENST00000507392.1,ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437529 | 5 | 134116830:134116936:134117610:134117776:134118634:134118755 | 134117610:134117776 | ENSG00000145833.11 | ENST00000507392.1,ENST00000452510.2,ENST00000354283.4 |
| exon_skip_437530 | 5 | 134117759:134117776:134118634:134118755:134120055:134120231 | 134118634:134118755 | ENSG00000145833.11 | ENST00000507392.1,ENST00000452510.2,ENST00000354283.4,ENST00000509178.1 |
| exon_skip_437532 | 5 | 134117759:134117776:134120055:134120231:134121154:134121276 | 134120055:134120231 | ENSG00000145833.11 | ENST00000513592.1 |
| exon_skip_437533 | 5 | 134118634:134118755:134120055:134120231:134121154:134121276 | 134120055:134120231 | ENSG00000145833.11 | ENST00000507392.1,ENST00000452510.2,ENST00000354283.4,ENST00000509178.1 |
| exon_skip_437541 | 5 | 134124202:134124281:134124905:134124954:134126159:134126242 | 134124905:134124954 | ENSG00000145833.11 | ENST00000509178.1 |
| exon_skip_437542 | 5 | 134124202:134124281:134125795:134125912:134126159:134126242 | 134125795:134125912 | ENSG00000145833.11 | ENST00000507392.1 |
| exon_skip_437545 | 5 | 134154605:134154694:134162636:134162710:134164348:134164436 | 134162636:134162710 | ENSG00000145833.11 | ENST00000507392.1,ENST00000452510.2,ENST00000354283.4,ENST00000503946.1,ENST00000507053.1 |
| 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 DDX46 |
| 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 |
| ENST00000354283 | 134106592 | 134106689 | Frame-shift |
| ENST00000354283 | 134109385 | 134109551 | Frame-shift |
| ENST00000354283 | 134113263 | 134113415 | Frame-shift |
| ENST00000354283 | 134117610 | 134117776 | Frame-shift |
| ENST00000354283 | 134118634 | 134118755 | Frame-shift |
| ENST00000354283 | 134120055 | 134120231 | Frame-shift |
| ENST00000354283 | 134162636 | 134162710 | Frame-shift |
| ENST00000354283 | 134099593 | 134099782 | In-frame |
| ENST00000354283 | 134102606 | 134102750 | 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 |
| ENST00000354283 | 134106592 | 134106689 | Frame-shift |
| ENST00000354283 | 134109385 | 134109551 | Frame-shift |
| ENST00000354283 | 134113263 | 134113415 | Frame-shift |
| ENST00000354283 | 134117610 | 134117776 | Frame-shift |
| ENST00000354283 | 134118634 | 134118755 | Frame-shift |
| ENST00000354283 | 134120055 | 134120231 | Frame-shift |
| ENST00000354283 | 134162636 | 134162710 | Frame-shift |
| ENST00000354283 | 134099593 | 134099782 | In-frame |
| ENST00000354283 | 134102606 | 134102750 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DDX46 |
| 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 |
| ENST00000354283 | 3838 | 1031 | 134099593 | 134099782 | 153 | 341 | 6 | 68 |
| ENST00000354283 | 3838 | 1031 | 134102606 | 134102750 | 342 | 485 | 69 | 116 |
| 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 |
| ENST00000354283 | 3838 | 1031 | 134099593 | 134099782 | 153 | 341 | 6 | 68 |
| ENST00000354283 | 3838 | 1031 | 134102606 | 134102750 | 342 | 485 | 69 | 116 |
| 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 |
| Q7L014 | 6 | 68 | 2 | 1031 | Chain | ID=PRO_0000055121;Note=Probable ATP-dependent RNA helicase DDX46 |
| Q7L014 | 6 | 68 | 3 | 103 | Compositional bias | Note=Arg-rich |
| Q7L014 | 69 | 116 | 2 | 1031 | Chain | ID=PRO_0000055121;Note=Probable ATP-dependent RNA helicase DDX46 |
| Q7L014 | 69 | 116 | 3 | 103 | Compositional bias | Note=Arg-rich |
| Q7L014 | 69 | 116 | 109 | 109 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7L014 | 69 | 116 | 114 | 114 | Sequence conflict | Note=T->A;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 |
| Q7L014 | 6 | 68 | 2 | 1031 | Chain | ID=PRO_0000055121;Note=Probable ATP-dependent RNA helicase DDX46 |
| Q7L014 | 6 | 68 | 3 | 103 | Compositional bias | Note=Arg-rich |
| Q7L014 | 69 | 116 | 2 | 1031 | Chain | ID=PRO_0000055121;Note=Probable ATP-dependent RNA helicase DDX46 |
| Q7L014 | 69 | 116 | 3 | 103 | Compositional bias | Note=Arg-rich |
| Q7L014 | 69 | 116 | 109 | 109 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7L014 | 69 | 116 | 114 | 114 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for DDX46 |
| - 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_437523 | 134106593 | 134106689 | 134106642 | 134106642 | Frame_Shift_Del | A | - | p.K135fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_437525 | 134109386 | 134109551 | 134109464 | 134109464 | Frame_Shift_Del | A | - | p.K177fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_437525 | 134109386 | 134109551 | 134109494 | 134109494 | Frame_Shift_Del | A | - | p.K187fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_437525 | 134109386 | 134109551 | 134109494 | 134109494 | Frame_Shift_Del | A | - | p.L185fs |
| UCEC | TCGA-D1-A17B-01 | exon_skip_437525 | 134109386 | 134109551 | 134109524 | 134109524 | Frame_Shift_Del | A | - | p.K196fs |
| LGG | TCGA-DU-6392-01 | exon_skip_437528 | 134113264 | 134113415 | 134113367 | 134113367 | Frame_Shift_Del | A | - | p.V239fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_437545 | 134162637 | 134162710 | 134162660 | 134162660 | Frame_Shift_Del | A | - | p.K1001fs |
| UCEC | TCGA-AP-A056-01 | exon_skip_437523 | 134106593 | 134106689 | 134106675 | 134106675 | Nonsense_Mutation | G | T | p.E145* |
| READ | TCGA-EI-6917-01 | exon_skip_437528 | 134113264 | 134113415 | 134113410 | 134113410 | Nonsense_Mutation | G | T | p.E254X |
| KIRP | TCGA-2Z-A9JE-01 | exon_skip_437530 | 134118635 | 134118755 | 134118720 | 134118720 | Nonsense_Mutation | T | A | p.C377X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_437545 | 134162637 | 134162710 | 134162645 | 134162645 | Nonsense_Mutation | G | T | p.E996* |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_437525 | 134109386 | 134109551 | 134109385 | 134109385 | Splice_Site | G | T | 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 |
| SW48_LARGE_INTESTINE | 134113264 | 134113415 | 134113367 | 134113367 | Frame_Shift_Del | A | - | p.V239fs |
| EN_ENDOMETRIUM | 134117611 | 134117776 | 134117722 | 134117722 | Frame_Shift_Del | T | - | p.F331fs |
| NCIH630_LARGE_INTESTINE | 134102607 | 134102750 | 134102619 | 134102620 | Frame_Shift_Ins | - | AG | p.R74fs |
| 2313287_STOMACH | 134099594 | 134099782 | 134099602 | 134099602 | Missense_Mutation | G | A | p.R9Q |
| MM370_SKIN | 134099594 | 134099782 | 134099663 | 134099663 | Missense_Mutation | C | G | p.D29E |
| SNU1040_LARGE_INTESTINE | 134099594 | 134099782 | 134099725 | 134099725 | Missense_Mutation | A | G | p.E50G |
| HEC151_ENDOMETRIUM | 134099594 | 134099782 | 134099733 | 134099733 | Missense_Mutation | C | T | p.R53C |
| BICR22_UPPER_AERODIGESTIVE_TRACT | 134102607 | 134102750 | 134102631 | 134102631 | Missense_Mutation | C | G | p.D77E |
| HCT116_LARGE_INTESTINE | 134102607 | 134102750 | 134102633 | 134102633 | Missense_Mutation | G | A | p.R78K |
| SNU1040_LARGE_INTESTINE | 134102607 | 134102750 | 134102639 | 134102639 | Missense_Mutation | G | A | p.R80Q |
| UO31_KIDNEY | 134102607 | 134102750 | 134102732 | 134102732 | Missense_Mutation | G | A | p.S111N |
| JHUEM7_ENDOMETRIUM | 134109386 | 134109551 | 134109426 | 134109426 | Missense_Mutation | G | A | p.R163Q |
| FTC133_THYROID | 134109386 | 134109551 | 134109426 | 134109426 | Missense_Mutation | G | A | p.R163Q |
| NCIH2804_PLEURA | 134109386 | 134109551 | 134109513 | 134109513 | Missense_Mutation | T | C | p.M192T |
| HLE_LIVER | 134109386 | 134109551 | 134109533 | 134109533 | Missense_Mutation | A | C | p.S199R |
| HCC2450_LUNG | 134117611 | 134117776 | 134117620 | 134117620 | Missense_Mutation | G | C | p.E297Q |
| TC106_BONE | 134117611 | 134117776 | 134117639 | 134117639 | Missense_Mutation | T | G | p.L303R |
| SNU81_LARGE_INTESTINE | 134117611 | 134117776 | 134117675 | 134117675 | Missense_Mutation | G | A | p.R315Q |
| PSN1_PANCREAS | 134117611 | 134117776 | 134117681 | 134117681 | Missense_Mutation | T | C | p.L317P |
| LOXIMVI_SKIN | 134118635 | 134118755 | 134118746 | 134118746 | Missense_Mutation | C | T | p.S386F |
| HEC59_ENDOMETRIUM | 134120056 | 134120231 | 134120204 | 134120204 | Missense_Mutation | T | C | p.S439P |
| GAK_SKIN | 134162637 | 134162710 | 134162669 | 134162669 | Missense_Mutation | G | T | p.A1003S |
| HT115_LARGE_INTESTINE | 134106593 | 134106689 | 134106688 | 134106688 | Splice_Site | G | A | p.G149D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX46 |
| 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 DDX46 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX46 |
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RelatedDrugs for DDX46 |
| 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 DDX46 |
| 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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