Identity
HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
DDX30,NEDMIAL,RETCOR
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22907
MIM: 616423
HGNC: 16716
Ensembl: ENSG00000132153
Variants:
dbSNP: 22907
ClinVar: 22907
TCGA: ENSG00000132153
COSMIC: DHX30
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37094863 | 2023 | DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review. | 0 |
| 37094863 | 2023 | DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review. | 0 |
| 36163369 | 2022 | Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates. | 2 |
| 36163369 | 2022 | Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates. | 2 |
| 34020708 | 2021 | Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. | 12 |
| 34180050 | 2021 | De novo pathogenic DHX30 variants in two cases. | 1 |
| 34020708 | 2021 | Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. | 12 |
| 34180050 | 2021 | De novo pathogenic DHX30 variants in two cases. | 1 |
| 31754723 | 2020 | A double-stranded RNA platform is required for the interaction between a host restriction factor and the NS1 protein of influenza A virus. | 12 |
| 32234473 | 2020 | Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30. | 15 |
| 31754723 | 2020 | A double-stranded RNA platform is required for the interaction between a host restriction factor and the NS1 protein of influenza A virus. | 12 |
| 32234473 | 2020 | Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30. | 15 |
| 29100085 | 2017 | De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. | 44 |
| 29100085 | 2017 | De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. | 44 |
| 20379614 | 2010 | Personalized 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/dhx30
