RNU4ATAC Chromosome 2
RNA, U4atac small nuclear
Upload your DNA to see your personal genotypes for variants in RNU4ATAC.
What This Gene Does
The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
"Small nuclear RNAs|Minor spliceosome"
Locus Type
RNA, small nuclear
Location
2q14.2
Ensembl
ENSG00000264229
Associated Conditions (9)
RNU4ATAC-related spliceosomopathies
RNU4ATAC-related disorder
Lowry-Wood syndrome
RNU4ATAC spectrum disorder
Roifman syndrome
Osteodysplastic primordial dwarfism
type 1
CLASP1-related disorder
Retinal disorder
Key Variants
RS1208611147
Conflicting classifications of pathogenicity
RNU4ATAC-related spliceosomopathies, RNU4ATAC-related spliceosomopathies
Health Risk
RS145446412
Conflicting classifications of pathogenicity
RNU4ATAC-related disorder, RNU4ATAC-related disorder
Health Risk
RS533487249
Conflicting classifications of pathogenicity
Lowry-Wood syndrome, RNU4ATAC spectrum disorder, Lowry-Wood syndrome
Health Risk
RS559979281
Conflicting classifications of pathogenicity
Roifman syndrome, Osteodysplastic primordial dwarfism, type 1
Health Risk
RS572917990
Conflicting classifications of pathogenicity
RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
Health Risk
RS575472572
Conflicting classifications of pathogenicity
Osteodysplastic primordial dwarfism, type 1, Roifman syndrome
Health Risk
RS767236617
Conflicting classifications of pathogenicity
Osteodysplastic primordial dwarfism, type 1, Lowry-Wood syndrome
Health Risk
RS770147655
Conflicting classifications of pathogenicity
RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
Health Risk
RS905928272
Conflicting classifications of pathogenicity
RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
Health Risk
RS991806266
Conflicting classifications of pathogenicity
Roifman syndrome, Roifman syndrome
Health Risk
RS1032667950
Likely pathogenic
Roifman syndrome, Lowry-Wood syndrome, RNU4ATAC spectrum disorder
Health Risk
RS1487164913
Likely pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1208611147 | Health Risk | Conflicting classifications of pathogenicity | RNU4ATAC-related spliceosomopathies, RNU4ATAC-related spliceosomopathies |
| RS145446412 | Health Risk | Conflicting classifications of pathogenicity | RNU4ATAC-related disorder, RNU4ATAC-related disorder |
| RS533487249 | Health Risk | Conflicting classifications of pathogenicity | Lowry-Wood syndrome, RNU4ATAC spectrum disorder, Lowry-Wood syndrome |
| RS559979281 | Health Risk | Conflicting classifications of pathogenicity | Roifman syndrome, Osteodysplastic primordial dwarfism, type 1 |
| RS572917990 | Health Risk | Conflicting classifications of pathogenicity | RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder |
| RS575472572 | Health Risk | Conflicting classifications of pathogenicity | Osteodysplastic primordial dwarfism, type 1, Roifman syndrome |
| RS767236617 | Health Risk | Conflicting classifications of pathogenicity | Osteodysplastic primordial dwarfism, type 1, Lowry-Wood syndrome |
| RS770147655 | Health Risk | Conflicting classifications of pathogenicity | RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder |
| RS905928272 | Health Risk | Conflicting classifications of pathogenicity | RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder |
| RS991806266 | Health Risk | Conflicting classifications of pathogenicity | Roifman syndrome, Roifman syndrome |
| RS1032667950 | Health Risk | Likely pathogenic | Roifman syndrome, Lowry-Wood syndrome, RNU4ATAC spectrum disorder |
| RS1487164913 | Health Risk | Likely pathogenic | — |
| RS374299350 | Health Risk | Likely pathogenic | Osteodysplastic primordial dwarfism, type 1, Retinal disorder |
| RS779143800 | Health Risk | Likely pathogenic | Osteodysplastic primordial dwarfism, type 1, Osteodysplastic primordial dwarfism |
| RS1281131043 | Health Risk | Pathogenic | Lowry-Wood syndrome, Lowry-Wood syndrome |
| RS544312701 | Health Risk | Pathogenic | Osteodysplastic primordial dwarfism, type 1, Roifman syndrome |
| RS558667045 | Health Risk | Pathogenic | Lowry-Wood syndrome, Lowry-Wood syndrome |
| RS763500364 | Health Risk | Pathogenic | Osteodysplastic primordial dwarfism, type 1, Lowry-Wood syndrome |
| RS181195449 | Health Risk | Pathogenic/Likely pathogenic | Osteodysplastic primordial dwarfism, type 1, RNU4ATAC spectrum disorder |
| RS558135361 | Health Risk | Pathogenic/Likely pathogenic | RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder |
| RS863225422 | Health Risk | Pathogenic/Likely pathogenic | Roifman syndrome, Osteodysplastic primordial dwarfism, type 1 |
| RS863225423 | Health Risk | Pathogenic/Likely pathogenic | Roifman syndrome, Osteodysplastic primordial dwarfism, type 1 |