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

2014-11-01 Affiliation

Identity

HGNC

RNU4ATAC

LOCATION

2q14.2

LOCUSID

100151683

ALIAS

LWS,MOPD1,RFMN,RNU4ATAC1,TALS,U4ATAC

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: 100151683
MIM: 601428
HGNC: 34016
Ensembl: ENSG00000264229

Variants:

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

RNA/Proteins

Expression (GTEx)

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 ID	Year	Title	Citations
37225827	2023	Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.	0
37225827	2023	Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.	0
34405953	2021	Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.	0
34405953	2021	Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.	0
29265708	2018	The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.	25
29370840	2018	Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.	7
29391254	2018	Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.	19
30368667	2018	Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.	9
29265708	2018	The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.	25
29370840	2018	Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.	7
29391254	2018	Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.	19
30368667	2018	Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.	9
27040866	2016	Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.	7
27346851	2016	A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.	3
27040866	2016	Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.	7

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