DDX41 (DEAD-box helicase 41)

2007-04-01  

Identity

HGNC
DDX41
LOCATION
5q35.3
LOCUSID
51428
ALIAS
ABS,MPLPF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51428
MIM: 608170
HGNC: 18674
Ensembl: ENSG00000183258

Variants:

dbSNP: 51428
ClinVar: 51428
TCGA: ENSG00000183258
COSMIC: DDX41

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183258ENST00000330503Q9UJV9
ENSG00000183258ENST00000504781H0YA06
ENSG00000183258ENST00000507955A0A499FJW5
ENSG00000183258ENST00000508279H0Y8L8
ENSG00000183258ENST00000509576D6RGI7
ENSG00000183258ENST00000510171D6RD33
ENSG00000183258ENST00000625286D6RD33
ENSG00000183258ENST00000629036D6RGI7

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

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cytosolic sensors of pathogen-associated DNAREACTOMER-HSA-1834949
STING mediated induction of host immune responsesREACTOMER-HSA-1834941
IRF3-mediated induction of type I IFNREACTOMER-HSA-3270619
Regulation of innate immune responses to cytosolic DNAREACTOMER-HSA-3134975

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
382824182024Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.0
384922002024Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.0
382824182024Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage.0
384922002024Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.0
363229302023Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.29
364552002023DDX41-associated susceptibility to myeloid neoplasms.11
367801102023Ribosome profiling analysis reveals the roles of DDX41 in translational regulation.2
371991252023Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.3
374061662023Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.6
375063412023Prevalence and significance of DDX41 gene variants in the general population.7
377052602023Germline DDX41 mutant predisposition syndromes: Slow driver states to hematological malignancies.0
378749142023The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.0
363229302023Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.29
364552002023DDX41-associated susceptibility to myeloid neoplasms.11
367801102023Ribosome profiling analysis reveals the roles of DDX41 in translational regulation.2

Citation

Dessen P

DDX41 (DEAD-box helicase 41)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46682/img/js/lib/js/lib/jquery-3.5.1.min.js