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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for DHX30

check button Gene summary
Gene informationGene symbol

DHX30

Gene ID

22907

Gene nameDExH-box helicase 30
SynonymsDDX30|NEDMIAL|RETCOR
Cytomap

3p21.31

Type of geneprotein-coding
Descriptionputative ATP-dependent RNA helicase DHX30DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30DEAH (Asp-Glu-Ala-His) box helicase 30DEAH (Asp-Glu-Ala-His) box polypeptide 30DEAH box protein 30DEAH-box helicase 30retina co-repressor
Modification date20180523
UniProtAcc

Q7L2E3

ContextPubMed: DHX30 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for DHX30 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for DHX30

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for DHX30

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_373864347844654:47844702:47846815:47846910:47852146:4785220147846815:47846910ENSG00000132153.10ENST00000446256.2,ENST00000415400.1,ENST00000492893.1,ENST00000395745.2,ENST00000476446.1,ENST00000348968.4,ENST00000441384.1,ENST00000445061.1
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENSG00000132153.10ENST00000348968.4
exon_skip_373868347852146:47852201:47859511:47859607:47868836:4786896747859511:47859607ENSG00000132153.10ENST00000445061.1
exon_skip_373869347859511:47859607:47860725:47860754:47866256:4786635347860725:47860754ENSG00000132153.10ENST00000492893.1
exon_skip_373870347859511:47859607:47860725:47860754:47868836:4786896747860725:47860754ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000441384.1
exon_skip_373876347860725:47860754:47863586:47863721:47866256:4786635347863586:47863721ENSG00000132153.10ENST00000415400.1
exon_skip_373878347868888:47868967:47870513:47870624:47882366:4788266847870513:47870624ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000441384.1,ENST00000445061.1
exon_skip_373882347882366:47882668:47883106:47883227:47884595:4788474547883106:47883227ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000445061.1
exon_skip_373883347883106:47883227:47884595:47884745:47887189:4788734247884595:47884745ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000445061.1
exon_skip_373884347884595:47884745:47887189:47887342:47887654:4788789447887189:47887342ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000445061.1
exon_skip_373886347888762:47888838:47888921:47889026:47889270:4788944647888921:47889026ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000445061.1
exon_skip_373887347889270:47889446:47889669:47889876:47889958:4789004047889669:47889876ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000445061.1
exon_skip_373888347889958:47890040:47890113:47890307:47890409:4789048647890113:47890307ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000445061.1,ENST00000474183.1
exon_skip_373892347890940:47891044:47891119:47891259:47891356:4789167747891119:47891259ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000445061.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for DHX30

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_373864347844654:47844702:47846815:47846910:47852146:4785220147846815:47846910ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000476446.1,ENST00000415400.1,ENST00000492893.1,ENST00000395745.2,ENST00000441384.1,ENST00000348968.4
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENSG00000132153.10ENST00000348968.4
exon_skip_373868347852146:47852201:47859511:47859607:47868836:4786896747859511:47859607ENSG00000132153.10ENST00000445061.1
exon_skip_373869347859511:47859607:47860725:47860754:47866256:4786635347860725:47860754ENSG00000132153.10ENST00000492893.1
exon_skip_373870347859511:47859607:47860725:47860754:47868836:4786896747860725:47860754ENSG00000132153.10ENST00000446256.2,ENST00000395745.2,ENST00000441384.1
exon_skip_373876347860725:47860754:47863586:47863721:47866256:4786635347863586:47863721ENSG00000132153.10ENST00000415400.1
exon_skip_373878347868888:47868967:47870513:47870624:47882366:4788266847870513:47870624ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000441384.1,ENST00000348968.4,ENST00000457607.1
exon_skip_373882347882366:47882668:47883106:47883227:47884595:4788474547883106:47883227ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1
exon_skip_373883347883106:47883227:47884595:47884745:47887189:4788734247884595:47884745ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1
exon_skip_373884347884595:47884745:47887189:47887342:47887654:4788789447887189:47887342ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1
exon_skip_373886347888762:47888838:47888921:47889026:47889270:4788944647888921:47889026ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1
exon_skip_373887347889270:47889446:47889669:47889876:47889958:4789004047889669:47889876ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1
exon_skip_373888347889958:47890040:47890113:47890307:47890409:4789048647890113:47890307ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1,ENST00000474183.1
exon_skip_373892347890940:47891044:47891119:47891259:47891356:4789167747891119:47891259ENSG00000132153.10ENST00000446256.2,ENST00000445061.1,ENST00000395745.2,ENST00000348968.4,ENST00000457607.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for DHX30

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000044625647860725478607545CDS-5UTR
ENST0000044506147846815478469105UTR-5UTR
ENST0000044625647846815478469105UTR-5UTR
ENST000004450614788310647883227Frame-shift
ENST000004462564788310647883227Frame-shift
ENST000004450614789011347890307Frame-shift
ENST000004462564789011347890307Frame-shift
ENST000004450614789111947891259Frame-shift
ENST000004462564789111947891259Frame-shift
ENST000004450614785951147859607In-frame
ENST000004450614787051347870624In-frame
ENST000004462564787051347870624In-frame
ENST000004450614788459547884745In-frame
ENST000004462564788459547884745In-frame
ENST000004450614788718947887342In-frame
ENST000004462564788718947887342In-frame
ENST000004450614788892147889026In-frame
ENST000004462564788892147889026In-frame
ENST000004450614788966947889876In-frame
ENST000004462564788966947889876In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000044625647860725478607545CDS-5UTR
ENST0000044506147846815478469105UTR-5UTR
ENST0000044625647846815478469105UTR-5UTR
ENST000004450614788310647883227Frame-shift
ENST000004462564788310647883227Frame-shift
ENST000004450614789011347890307Frame-shift
ENST000004462564789011347890307Frame-shift
ENST000004450614789111947891259Frame-shift
ENST000004462564789111947891259Frame-shift
ENST000004450614785951147859607In-frame
ENST000004450614787051347870624In-frame
ENST000004462564787051347870624In-frame
ENST000004450614788459547884745In-frame
ENST000004462564788459547884745In-frame
ENST000004450614788718947887342In-frame
ENST000004462564788718947887342In-frame
ENST000004450614788892147889026In-frame
ENST000004462564788892147889026In-frame
ENST000004450614788966947889876In-frame
ENST000004462564788966947889876In-frame

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Infer the effects of exon skipping event on protein functional features for DHX30

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000445061408211944785951147859607436531941
ENST000004462564132119447870513478706247118214683
ENST0000044506140821194478705134787062466377385122
ENST0000044625641321194478845954788474512451394224274
ENST0000044506140821194478845954788474511971346263313
ENST0000044625641321194478871894788734213951547274325
ENST0000044506140821194478871894788734213471499313364
ENST0000044625641321194478889214788902624612565629664
ENST0000044506140821194478889214788902624132517668703
ENST0000044625641321194478896694788987627422948723792
ENST0000044506140821194478896694788987626942900762831

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000445061408211944785951147859607436531941
ENST000004462564132119447870513478706247118214683
ENST0000044506140821194478705134787062466377385122
ENST0000044625641321194478845954788474512451394224274
ENST0000044506140821194478845954788474511971346263313
ENST0000044625641321194478871894788734213951547274325
ENST0000044506140821194478871894788734213471499313364
ENST0000044625641321194478889214788902624612565629664
ENST0000044506140821194478889214788902624132517668703
ENST0000044625641321194478896694788987627422948723792
ENST0000044506140821194478896694788987626942900762831

check button 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 featureDescription of feature
Q7L2E3941141Alternative sequenceID=VSP_022118;Note=In isoform 2. MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISR->MAAARRLMALAAGISPRLQPLGPRAAGRQGRSRGFSSSCAHPDHTKEAAEAESGMAPGGPGEGDGSLVN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7L2E3941139Alternative sequenceID=VSP_036891;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q7L2E39414041Alternative sequenceID=VSP_036892;Note=In isoform 3. SR->MA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q7L2E394111194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E346837478Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E346838191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E3468311194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3468353121DomainNote=DRBM
Q7L2E346835364HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E346836773HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E346834749TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E3851228191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E3851229395Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E38512297105Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E38512211194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E38512253121DomainNote=DRBM
Q7L2E385122106124HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E322427411194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3224274226226Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99PU8
Q7L2E326331311194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E327432511194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E331336411194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E362966411194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3629664654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E366870311194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3668703654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E372379211194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3723792654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E3723792781781Natural variantID=VAR_080613;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. G->D;Ontology_term=ECO:0000269;evid
Q7L2E3723792782782Natural variantID=VAR_080614;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->W;Ontology_term=ECO:0000269,ECO:
Q7L2E3723792785785Natural variantID=VAR_080615;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->C;Ontology_term=ECO:0000269;evid
Q7L2E3723792785785Natural variantID=VAR_080616;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->H;Ontology_term=ECO:0000269;evid
Q7L2E376283111194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3762831654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E3762831781781Natural variantID=VAR_080613;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. G->D;Ontology_term=ECO:0000269;evid
Q7L2E3762831782782Natural variantID=VAR_080614;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->W;Ontology_term=ECO:0000269,ECO:
Q7L2E3762831785785Natural variantID=VAR_080615;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->C;Ontology_term=ECO:0000269;evid
Q7L2E3762831785785Natural variantID=VAR_080616;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->H;Ontology_term=ECO:0000269;evid


check button 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 featureDescription of feature
Q7L2E3941141Alternative sequenceID=VSP_022118;Note=In isoform 2. MFSLDSFRKDRAQHRQRQCKLPPPRLPPMCVNPTPGGTISR->MAAARRLMALAAGISPRLQPLGPRAAGRQGRSRGFSSSCAHPDHTKEAAEAESGMAPGGPGEGDGSLVN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7L2E3941139Alternative sequenceID=VSP_036891;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q7L2E39414041Alternative sequenceID=VSP_036892;Note=In isoform 3. SR->MA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q7L2E394111194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E346837478Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E346838191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E3468311194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3468353121DomainNote=DRBM
Q7L2E346835364HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E346836773HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E346834749TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E3851228191Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E3851229395Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E38512297105Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E38512211194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E38512253121DomainNote=DRBM
Q7L2E385122106124HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DB2
Q7L2E322427411194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3224274226226Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99PU8
Q7L2E326331311194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E327432511194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E331336411194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E362966411194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3629664654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E366870311194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3668703654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E372379211194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3723792654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E3723792781781Natural variantID=VAR_080613;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. G->D;Ontology_term=ECO:0000269;evid
Q7L2E3723792782782Natural variantID=VAR_080614;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->W;Ontology_term=ECO:0000269,ECO:
Q7L2E3723792785785Natural variantID=VAR_080615;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->C;Ontology_term=ECO:0000269;evid
Q7L2E3723792785785Natural variantID=VAR_080616;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->H;Ontology_term=ECO:0000269;evid
Q7L2E376283111194ChainID=PRO_0000245538;Note=ATP-dependent RNA helicase DHX30
Q7L2E3762831654827DomainNote=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542
Q7L2E3762831781781Natural variantID=VAR_080613;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. G->D;Ontology_term=ECO:0000269;evid
Q7L2E3762831782782Natural variantID=VAR_080614;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->W;Ontology_term=ECO:0000269,ECO:
Q7L2E3762831785785Natural variantID=VAR_080615;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->C;Ontology_term=ECO:0000269;evid
Q7L2E3762831785785Natural variantID=VAR_080616;Note=In NEDMIAL%3B changed localization to stress granules%3B decreased RNA-dependent ATPase activity%3B by inducing the formation of stress granules probably indirectly decreases global protein synthesis. R->H;Ontology_term=ECO:0000269;evid


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SNVs in the skipped exons for DHX30

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
DHX30_BRCA_exon_skip_373868_psi_boxplot.png
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DHX30_STAD_exon_skip_373868_psi_boxplot.png
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DHX30_STAD_exon_skip_373886_psi_boxplot.png
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DHX30_THCA_exon_skip_373868_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
STADTCGA-CG-4306-01exon_skip_373868
47859512478596074785955347859553Frame_Shift_DelC-p.P23fs
LIHCTCGA-DD-A1EG-01exon_skip_373883
47884596478847454788461947884619Frame_Shift_DelG-p.V232fs
LIHCTCGA-DD-A1EG-01exon_skip_373883
47884596478847454788461947884619Frame_Shift_DelG-p.V271fs
SKCMTCGA-EE-A2MS-06exon_skip_373883
47884596478847454788467747884677Frame_Shift_DelG-p.F251fs
SKCMTCGA-EE-A2MS-06exon_skip_373883
47884596478847454788467747884677Frame_Shift_DelG-p.V252fs
LIHCTCGA-DD-A3A0-01exon_skip_373888
47890114478903074789024647890246Frame_Shift_DelT-p.V864fs
KIRPTCGA-UZ-A9PU-01exon_skip_373892
47891120478912594789124747891253Frame_Shift_DelGTGCACA-p.1106_1108del
THCATCGA-EM-A3O6-01exon_skip_373868
47859512478596074785952947859529Nonsense_MutationCTp.Q16*
THCATCGA-EM-A3O6-01exon_skip_373868
47859512478596074785952947859529Nonsense_MutationCTp.Q16X
BLCATCGA-H4-A2HQ-01exon_skip_373884
47887190478873424788726847887268Nonsense_MutationGTp.E301*
BLCATCGA-H4-A2HQ-01exon_skip_373884
47887190478873424788726847887268Nonsense_MutationGTp.E340*
BRCATCGA-E2-A14R-01exon_skip_373886
47888922478890264788900247889002Nonsense_MutationGTp.E696*
STADTCGA-BR-6452-01exon_skip_373887
47889670478898764788977247889772Nonsense_MutationCTp.R797*
STADTCGA-BR-6452-01exon_skip_373887
47889670478898764788977247889772Nonsense_MutationCTp.R797X
BRCATCGA-A1-A0SI-01exon_skip_373868
47859512478596074785951147859511Splice_SiteGTe2-1
STADTCGA-CD-A4MG-01exon_skip_373886
47888922478890264788902747889027Splice_SiteGAp.V704_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
DHX30_47888762_47888838_47888921_47889026_47889270_47889446_TCGA-CD-A4MG-01Sample: TCGA-CD-A4MG-01
Cancer type: STAD
ESID: exon_skip_373886
Skipped exon start: 47888922
Skipped exon end: 47889026
Mutation start: 47889027
Mutation end: 47889027
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: p.V704_splice
exon_skip_126223_STAD_TCGA-CD-A4MG-01.png
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exon_skip_140893_STAD_TCGA-CD-A4MG-01.png
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exon_skip_149455_STAD_TCGA-CD-A4MG-01.png
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exon_skip_27769_STAD_TCGA-CD-A4MG-01.png
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exon_skip_373886_STAD_TCGA-CD-A4MG-01.png
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exon_skip_4028_STAD_TCGA-CD-A4MG-01.png
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exon_skip_434040_STAD_TCGA-CD-A4MG-01.png
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exon_skip_452918_STAD_TCGA-CD-A4MG-01.png
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exon_skip_460764_STAD_TCGA-CD-A4MG-01.png
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exon_skip_460769_STAD_TCGA-CD-A4MG-01.png
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exon_skip_464126_STAD_TCGA-CD-A4MG-01.png
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exon_skip_467032_STAD_TCGA-CD-A4MG-01.png
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exon_skip_477308_STAD_TCGA-CD-A4MG-01.png
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exon_skip_493826_STAD_TCGA-CD-A4MG-01.png
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exon_skip_493827_STAD_TCGA-CD-A4MG-01.png
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exon_skip_499045_STAD_TCGA-CD-A4MG-01.png
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exon_skip_63587_STAD_TCGA-CD-A4MG-01.png
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exon_skip_74321_STAD_TCGA-CD-A4MG-01.png
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DHX30_47852146_47852201_47859511_47859607_47868836_47868967_TCGA-A1-A0SI-01Sample: TCGA-A1-A0SI-01
Cancer type: BRCA
ESID: exon_skip_373868
Skipped exon start: 47859512
Skipped exon end: 47859607
Mutation start: 47859511
Mutation end: 47859511
Mutation type: Splice_Site
Reference seq: G
Mutation seq: T
AAchange: e2-1
exon_skip_373868_BRCA_TCGA-A1-A0SI-01.png
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DHX30_47852146_47852201_47859511_47859607_47868836_47868967_TCGA-EM-A3O6-01Sample: TCGA-EM-A3O6-01
Cancer type: THCA
ESID: exon_skip_373868
Skipped exon start: 47859512
Skipped exon end: 47859607
Mutation start: 47859529
Mutation end: 47859529
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q16X
DHX30_47852146_47852201_47859511_47859607_47868836_47868967_TCGA-EM-A3O6-01Sample: TCGA-EM-A3O6-01
Cancer type: THCA
ESID: exon_skip_373868
Skipped exon start: 47859512
Skipped exon end: 47859607
Mutation start: 47859529
Mutation end: 47859529
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q16*
exon_skip_373868_THCA_TCGA-EM-A3O6-01.png
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DHX30_47852146_47852201_47859511_47859607_47868836_47868967_TCGA-CG-4306-01Sample: TCGA-CG-4306-01
Cancer type: STAD
ESID: exon_skip_373868
Skipped exon start: 47859512
Skipped exon end: 47859607
Mutation start: 47859553
Mutation end: 47859553
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.P23fs
exon_skip_111877_STAD_TCGA-CG-4306-01.png
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exon_skip_299244_STAD_TCGA-CG-4306-01.png
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exon_skip_319017_STAD_TCGA-CG-4306-01.png
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exon_skip_330012_STAD_TCGA-CG-4306-01.png
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exon_skip_330013_STAD_TCGA-CG-4306-01.png
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exon_skip_373868_STAD_TCGA-CG-4306-01.png
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exon_skip_438601_STAD_TCGA-CG-4306-01.png
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exon_skip_438605_STAD_TCGA-CG-4306-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT47859512478596074785951747859517Missense_MutationGAp.A12T
MZ7MEL_SKIN47859512478596074785954747859547Missense_MutationCGp.P22A
BICR18_UPPER_AERODIGESTIVE_TRACT47859512478596074785960147859601Missense_MutationTAp.S40T
SNU1040_LARGE_INTESTINE47883107478832274788322247883222Missense_MutationGAp.A262T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE47884596478847454788469347884693Missense_MutationGAp.R296H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE47887190478873424788722047887221Missense_MutationCCTTp.P324L
HEC59_ENDOMETRIUM47887190478873424788727847887278Missense_MutationGAp.R343H
SNU1040_LARGE_INTESTINE47887190478873424788731747887317Missense_MutationGAp.R356H
NCIBL1395_MATCHED_NORMAL_TISSUE47888922478890264788896447888964Missense_MutationGCp.G683A
NCIH1395_LUNG47888922478890264788896447888964Missense_MutationGCp.G683A
HCT15_LARGE_INTESTINE47888922478890264788902347889023Missense_MutationCAp.P703T
LU135_LUNG47889670478898764788969447889694Missense_MutationGAp.V771I
HEC6_ENDOMETRIUM47889670478898764788973647889736Missense_MutationCTp.R785C
HCT15_LARGE_INTESTINE47890114478903074789014647890146Missense_MutationCAp.L870M
HCT15_LARGE_INTESTINE47890114478903074789015647890156Missense_MutationGAp.R873H
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE47891120478912594789116647891166Missense_MutationGAp.V1080I
A431_SKIN47889670478898764788969847889698Nonsense_MutationCGp.S772*
HCC2450_LUNG47891120478912594789120547891205Nonsense_MutationCTp.Q1093*
FTC133_THYROID47889670478898764788987547889875Splice_SiteCTp.T831M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHX30

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4BRCArs3888chr3:47857575T/C1.73e-04
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4LGGrs3888chr3:47857575T/C3.11e-04
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4LGGrs3888chr3:47857575T/C2.37e-03
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4KIRCrs3888chr3:47857575T/C1.73e-06
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4LUADrs3888chr3:47857575T/C2.10e-03
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4PRADrs3888chr3:47857575T/C3.61e-05
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4STADrs3888chr3:47857575T/C1.92e-03
exon_skip_373866347852146:47852201:47857452:47857618:47859511:4785960747857452:47857618ENST00000348968.4STADrs3888chr3:47857575T/C1.92e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHX30


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DHX30


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RelatedDrugs for DHX30

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DHX30

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource