RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))

2014-11-01  

Identity

HGNC
RNU4ATAC
LOCATION
2q14.2
LOCUSID
100151683
ALIAS
LWS,MOPD1,RFMN,RNU4ATAC1,TALS,U4ATAC

Other Information

Locus ID:

NCBI: 100151683
MIM: 601428
HGNC: 34016
Ensembl: ENSG00000264229

Variants:

dbSNP: 100151683
ClinVar: 100151683
TCGA: ENSG00000264229
COSMIC: RNU4ATAC

RNA/Proteins

Expression (GTEx)

0
1
2
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

References

Pubmed IDYearTitleCitations
273468512016A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.2
214747602011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.0
214747612011Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.0
218158882012Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.0
219902752011A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.0
225816402012Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.0
237943612013Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.0
248656092014Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.0
265228302015Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.0
270408662016Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.0

Citation

Dessen P

RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72727/rnu4atac