DDX59 (DEAD-box helicase 59)

2018-02-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
OFD5,ZNHIT5
FUSION GENES

Other Information

Locus ID:

NCBI: 83479
MIM: 615464
HGNC: 25360
Ensembl: ENSG00000118197

Variants:

dbSNP: 83479
ClinVar: 83479
TCGA: ENSG00000118197
COSMIC: DDX59

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118197ENST00000331314Q5T1V6
ENSG00000118197ENST00000413408Q5T1W1
ENSG00000118197ENST00000429498H0Y6Y1
ENSG00000118197ENST00000433235B7ZBU3
ENSG00000118197ENST00000436897Q5T1V5
ENSG00000118197ENST00000447706Q5T1V6
ENSG00000118197ENST00000452560H0Y7Z8
ENSG00000118197ENST00000453944B7ZBU4

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
239723722013Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.14
287117412017Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.2
291277252018A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.2
291331452018EGFR and Ras regulate DDX59 during lung cancer development.1

Citation

Dessen P

DDX59 (DEAD-box helicase 59)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57307/ddx59-(dead-box-helicase-59)