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)
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/rnu4atac-(rna-u4atac-small-nuclear-(u12-dependent-splicing))
