DHX30 (DExH-box helicase 30)

2007-04-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
DDX30,NEDMIAL,RETCOR
FUSION GENES

Other Information

Locus ID:

NCBI: 22907
MIM: 616423
HGNC: 16716
Ensembl: ENSG00000132153

Variants:

dbSNP: 22907
ClinVar: 22907
TCGA: ENSG00000132153
COSMIC: DHX30

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132153ENST00000348968H7BXY3
ENSG00000132153ENST00000395745F6R0H4
ENSG00000132153ENST00000415400F6R0H4
ENSG00000132153ENST00000441384F6R0H4
ENSG00000132153ENST00000445061Q7L2E3
ENSG00000132153ENST00000445061A0A024R2T6
ENSG00000132153ENST00000446256Q7L2E3
ENSG00000132153ENST00000446256A0A024R2T6
ENSG00000132153ENST00000457607Q7L2E3
ENSG00000132153ENST00000619982Q7L2E3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
370948632023DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.0
370948632023DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.0
361633692022Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates.2
361633692022Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates.2
340207082021Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.12
341800502021De novo pathogenic DHX30 variants in two cases.1
340207082021Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.12
341800502021De novo pathogenic DHX30 variants in two cases.1
317547232020A double-stranded RNA platform is required for the interaction between a host restriction factor and the NS1 protein of influenza A virus.12
322344732020Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30.15
317547232020A double-stranded RNA platform is required for the interaction between a host restriction factor and the NS1 protein of influenza A virus.12
322344732020Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30.15
291000852017De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.44
291000852017De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.44
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

DHX30 (DExH-box helicase 30)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47105/case-report-explorer/teaching-explorer/