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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 DHX40 |
 Gene summary |
| Gene information | Gene symbol | DHX40 | Gene ID | 79665 |
| Gene name | DEAH-box helicase 40 | |
| Synonyms | ARG147|DDX40|PAD | |
| Cytomap | 17q23.1 | |
| Type of gene | protein-coding | |
| Description | probable ATP-dependent RNA helicase DHX40DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)DEAH (Asp-Glu-Ala-His) box polypeptide 40DEAH box protein 40 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IX18 | |
| Context | PubMed: DHX40 [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 DHX40 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 DHX40 |
| 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 DHX40 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154823 | 17 | 57642973:57643144:57643987:57644070:57647878:57648024 | 57643987:57644070 | ENSG00000108406.5 | ENST00000577596.1 |
| exon_skip_154824 | 17 | 57642973:57643144:57643987:57644070:57650476:57650596 | 57643987:57644070 | ENSG00000108406.5 | ENST00000425628.3 |
| exon_skip_154825 | 17 | 57642973:57643144:57643987:57644155:57647878:57648024 | 57643987:57644155 | ENSG00000108406.5 | ENST00000451169.2 |
| exon_skip_154826 | 17 | 57642973:57643144:57643987:57644155:57650476:57650596 | 57643987:57644155 | ENSG00000108406.5 | ENST00000580218.1 |
| exon_skip_154829 | 17 | 57642973:57643144:57647878:57648024:57650476:57650596 | 57647878:57648024 | ENSG00000108406.5 | ENST00000584385.1 |
| exon_skip_154836 | 17 | 57643990:57644070:57647878:57648024:57650476:57650596 | 57647878:57648024 | ENSG00000108406.5 | ENST00000577596.1 |
| exon_skip_154837 | 17 | 57643987:57644155:57647878:57648024:57650476:57650596 | 57647878:57648024 | ENSG00000108406.5 | ENST00000580030.1,ENST00000251241.4,ENST00000451169.2 |
| exon_skip_154838 | 17 | 57647878:57648024:57650476:57650596:57651100:57651117 | 57650476:57650596 | ENSG00000108406.5 | ENST00000580030.1,ENST00000577596.1,ENST00000584385.1,ENST00000251241.4,ENST00000451169.2 |
| exon_skip_154843 | 17 | 57650476:57650596:57651100:57651328:57651548:57651615 | 57651100:57651328 | ENSG00000108406.5 | ENST00000580030.1,ENST00000425628.3,ENST00000251241.4,ENST00000580218.1,ENST00000451169.2 |
| exon_skip_154844 | 17 | 57654626:57654726:57656832:57656919:57657057:57657240 | 57656832:57656919 | ENSG00000108406.5 | ENST00000538926.2,ENST00000425628.3,ENST00000251241.4,ENST00000451169.2 |
| exon_skip_154848 | 17 | 57656832:57656919:57657057:57657240:57663513:57663594 | 57657057:57657240 | ENSG00000108406.5 | ENST00000425628.3,ENST00000251241.4,ENST00000451169.2 |
| exon_skip_154849 | 17 | 57657057:57657240:57663513:57663594:57665256:57665414 | 57663513:57663594 | ENSG00000108406.5 | ENST00000425628.3,ENST00000251241.4,ENST00000451169.2 |
| exon_skip_154858 | 17 | 57682475:57682545:57682806:57683035:57684393:57684619 | 57682806:57683035 | ENSG00000108406.5 | ENST00000577549.1,ENST00000425628.3,ENST00000251241.4,ENST00000451169.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DHX40 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154823 | 17 | 57642973:57643144:57643987:57644070:57647878:57648024 | 57643987:57644070 | ENSG00000108406.5 | ENST00000577596.1 |
| exon_skip_154824 | 17 | 57642973:57643144:57643987:57644070:57650476:57650596 | 57643987:57644070 | ENSG00000108406.5 | ENST00000425628.3 |
| exon_skip_154825 | 17 | 57642973:57643144:57643987:57644155:57647878:57648024 | 57643987:57644155 | ENSG00000108406.5 | ENST00000451169.2 |
| exon_skip_154826 | 17 | 57642973:57643144:57643987:57644155:57650476:57650596 | 57643987:57644155 | ENSG00000108406.5 | ENST00000580218.1 |
| exon_skip_154829 | 17 | 57642973:57643144:57647878:57648024:57650476:57650596 | 57647878:57648024 | ENSG00000108406.5 | ENST00000584385.1 |
| exon_skip_154836 | 17 | 57643990:57644070:57647878:57648024:57650476:57650596 | 57647878:57648024 | ENSG00000108406.5 | ENST00000577596.1 |
| exon_skip_154837 | 17 | 57643987:57644155:57647878:57648024:57650476:57650596 | 57647878:57648024 | ENSG00000108406.5 | ENST00000251241.4,ENST00000451169.2,ENST00000580030.1 |
| exon_skip_154838 | 17 | 57647878:57648024:57650476:57650596:57651100:57651117 | 57650476:57650596 | ENSG00000108406.5 | ENST00000251241.4,ENST00000451169.2,ENST00000577596.1,ENST00000584385.1,ENST00000580030.1 |
| exon_skip_154843 | 17 | 57650476:57650596:57651100:57651328:57651548:57651615 | 57651100:57651328 | ENSG00000108406.5 | ENST00000251241.4,ENST00000580218.1,ENST00000451169.2,ENST00000425628.3,ENST00000580030.1 |
| exon_skip_154844 | 17 | 57654626:57654726:57656832:57656919:57657057:57657240 | 57656832:57656919 | ENSG00000108406.5 | ENST00000251241.4,ENST00000451169.2,ENST00000425628.3,ENST00000538926.2 |
| exon_skip_154848 | 17 | 57656832:57656919:57657057:57657240:57663513:57663594 | 57657057:57657240 | ENSG00000108406.5 | ENST00000251241.4,ENST00000451169.2,ENST00000425628.3 |
| exon_skip_154849 | 17 | 57657057:57657240:57663513:57663594:57665256:57665414 | 57663513:57663594 | ENSG00000108406.5 | ENST00000251241.4,ENST00000451169.2,ENST00000425628.3 |
| exon_skip_154858 | 17 | 57682475:57682545:57682806:57683035:57684393:57684619 | 57682806:57683035 | ENSG00000108406.5 | ENST00000251241.4,ENST00000451169.2,ENST00000425628.3,ENST00000577549.1 |
| 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 DHX40 |
| 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 |
| ENST00000251241 | 57647878 | 57648024 | Frame-shift |
| ENST00000251241 | 57682806 | 57683035 | Frame-shift |
| ENST00000251241 | 57650476 | 57650596 | In-frame |
| ENST00000251241 | 57651100 | 57651328 | In-frame |
| ENST00000251241 | 57656832 | 57656919 | In-frame |
| ENST00000251241 | 57657057 | 57657240 | In-frame |
| ENST00000251241 | 57663513 | 57663594 | 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 |
| ENST00000251241 | 57647878 | 57648024 | Frame-shift |
| ENST00000251241 | 57682806 | 57683035 | Frame-shift |
| ENST00000251241 | 57650476 | 57650596 | In-frame |
| ENST00000251241 | 57651100 | 57651328 | In-frame |
| ENST00000251241 | 57656832 | 57656919 | In-frame |
| ENST00000251241 | 57657057 | 57657240 | In-frame |
| ENST00000251241 | 57663513 | 57663594 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DHX40 |
| 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 |
| ENST00000251241 | 3677 | 779 | 57650476 | 57650596 | 574 | 693 | 142 | 182 |
| ENST00000251241 | 3677 | 779 | 57651100 | 57651328 | 694 | 921 | 182 | 258 |
| ENST00000251241 | 3677 | 779 | 57656832 | 57656919 | 1221 | 1307 | 358 | 386 |
| ENST00000251241 | 3677 | 779 | 57657057 | 57657240 | 1308 | 1490 | 387 | 447 |
| ENST00000251241 | 3677 | 779 | 57663513 | 57663594 | 1491 | 1571 | 448 | 474 |
| 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 |
| ENST00000251241 | 3677 | 779 | 57650476 | 57650596 | 574 | 693 | 142 | 182 |
| ENST00000251241 | 3677 | 779 | 57651100 | 57651328 | 694 | 921 | 182 | 258 |
| ENST00000251241 | 3677 | 779 | 57656832 | 57656919 | 1221 | 1307 | 358 | 386 |
| ENST00000251241 | 3677 | 779 | 57657057 | 57657240 | 1308 | 1490 | 387 | 447 |
| ENST00000251241 | 3677 | 779 | 57663513 | 57663594 | 1491 | 1571 | 448 | 474 |
| 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 |
| Q8IX18 | 142 | 182 | 66 | 142 | Alternative sequence | ID=VSP_046973;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8IX18 | 142 | 182 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 142 | 182 | 63 | 231 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q8IX18 | 142 | 182 | 173 | 176 | Motif | Note=DEAH box |
| Q8IX18 | 182 | 258 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 182 | 258 | 63 | 231 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q8IX18 | 358 | 386 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 358 | 386 | 263 | 442 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| Q8IX18 | 387 | 447 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 387 | 447 | 263 | 442 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| Q8IX18 | 448 | 474 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 448 | 474 | 449 | 449 | Sequence conflict | Note=F->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 |
| Q8IX18 | 142 | 182 | 66 | 142 | Alternative sequence | ID=VSP_046973;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8IX18 | 142 | 182 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 142 | 182 | 63 | 231 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q8IX18 | 142 | 182 | 173 | 176 | Motif | Note=DEAH box |
| Q8IX18 | 182 | 258 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 182 | 258 | 63 | 231 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Q8IX18 | 358 | 386 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 358 | 386 | 263 | 442 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| Q8IX18 | 387 | 447 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 387 | 447 | 263 | 442 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| Q8IX18 | 448 | 474 | 1 | 779 | Chain | ID=PRO_0000252395;Note=Probable ATP-dependent RNA helicase DHX40 |
| Q8IX18 | 448 | 474 | 449 | 449 | Sequence conflict | Note=F->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for DHX40 |
| - 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_154823 exon_skip_154824 | 57643988 | 57644070 | 57644052 | 57644052 | Frame_Shift_Del | A | - | p.R59fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_154825 exon_skip_154826 | 57643988 | 57644155 | 57644052 | 57644052 | Frame_Shift_Del | A | - | p.R59fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_154836 exon_skip_154837 exon_skip_154829 | 57647879 | 57648024 | 57648003 | 57648003 | Frame_Shift_Del | T | - | p.R36fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_154844 | 57656833 | 57656919 | 57656854 | 57656854 | Frame_Shift_Del | C | - | p.F365fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_154849 | 57663514 | 57663594 | 57663549 | 57663549 | Frame_Shift_Del | T | - | p.I412fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_154858 | 57682807 | 57683035 | 57682857 | 57682857 | Frame_Shift_Del | G | - | p.L626fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_154858 | 57682807 | 57683035 | 57682907 | 57682907 | Frame_Shift_Del | G | - | p.W643fs |
| SKCM | TCGA-FS-A1ZZ-06 | exon_skip_154858 | 57682807 | 57683035 | 57682819 | 57682819 | Nonsense_Mutation | G | T | p.E614* |
| PAAD | TCGA-IB-7646-01 | exon_skip_154838 | 57650477 | 57650596 | 57650476 | 57650476 | Splice_Site | G | A | . |
| - 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 |
| OMC1_CERVIX | 57647879 | 57648024 | 57647956 | 57647956 | Frame_Shift_Del | G | - | p.E121fs |
| HEC59_ENDOMETRIUM | 57650477 | 57650596 | 57650520 | 57650521 | Frame_Shift_Del | AT | - | p.H157fs |
| SH4_SKIN | 57643988 | 57644070 | 57644035 | 57644035 | Missense_Mutation | C | T | p.P54S |
| SH4_SKIN | 57643988 | 57644155 | 57644035 | 57644035 | Missense_Mutation | C | T | p.P54S |
| UOK101_KIDNEY | 57643988 | 57644070 | 57644053 | 57644053 | Missense_Mutation | A | G | p.K60E |
| UOK101_KIDNEY | 57643988 | 57644155 | 57644053 | 57644053 | Missense_Mutation | A | G | p.K60E |
| OMC1_CERVIX | 57643988 | 57644070 | 57644058 | 57644058 | Missense_Mutation | G | T | p.K61N |
| OMC1_CERVIX | 57643988 | 57644155 | 57644058 | 57644058 | Missense_Mutation | G | T | p.K61N |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57643988 | 57644155 | 57644114 | 57644114 | Missense_Mutation | G | A | p.S80N |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57643988 | 57644155 | 57644125 | 57644125 | Missense_Mutation | A | G | p.T84A |
| SLR20_KIDNEY | 57643988 | 57644155 | 57644134 | 57644134 | Missense_Mutation | C | T | p.P87S |
| SCABER_URINARY_TRACT | 57647879 | 57648024 | 57647956 | 57647956 | Missense_Mutation | G | A | p.E120K |
| OMC1_CERVIX | 57647879 | 57648024 | 57648007 | 57648008 | Missense_Mutation | GA | AT | p.D137I |
| HCC2998_LARGE_INTESTINE | 57650477 | 57650596 | 57650490 | 57650490 | Missense_Mutation | A | C | p.K147T |
| NUGC3_STOMACH | 57650477 | 57650596 | 57650538 | 57650538 | Missense_Mutation | A | G | p.N163S |
| NUGC3_STOMACH | 57650477 | 57650596 | 57650554 | 57650554 | Missense_Mutation | T | A | p.S168R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 57651101 | 57651328 | 57651225 | 57651225 | Missense_Mutation | A | G | p.N224S |
| NCIH23_LUNG | 57651101 | 57651328 | 57651290 | 57651290 | Missense_Mutation | G | T | p.G246C |
| HEC108_ENDOMETRIUM | 57657058 | 57657240 | 57657191 | 57657191 | Missense_Mutation | A | G | p.T432A |
| SARC9371_BONE | 57663514 | 57663594 | 57663518 | 57663518 | Missense_Mutation | C | T | p.P450S |
| NCIH596_LUNG | 57682807 | 57683035 | 57682903 | 57682903 | Missense_Mutation | G | A | p.E690K |
| FTC238_THYROID | 57682807 | 57683035 | 57682910 | 57682910 | Missense_Mutation | T | C | p.V692A |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 57682807 | 57683035 | 57682940 | 57682940 | Missense_Mutation | T | A | p.F702Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHX40 |
| 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 DHX40 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHX40 |
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RelatedDrugs for DHX40 |
| 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 DHX40 |
| 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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