DHX30 (DExH-box helicase 30)

2007-04-01  

Identity

HGNC
DHX30
LOCATION
3p21.31
LOCUSID
22907
ALIAS
DDX30,NEDMIAL,RETCOR
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/js/template.js