RNU6ATAC

Chr 9

RNA, U6atac small nuclear

Also known as: MEJINS, RNU6ATAC1, U6ATAC

This gene encodes U6atac snRNA, a component of the minor spliceosome that recognizes specific splice sites and assembles into the U6atac snRNP complex for processing a subset of pre-mRNA transcripts. Mutations cause microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), a severe autosomal recessive disorder characterized by intrauterine growth restriction, profound microcephaly, skeletal dysplasia, and early lethality. MOPD1 affects multiple organ systems with onset in utero and represents one of the most severe forms of primordial dwarfism.

ResearchSummary from RefSeq

Predicted to enable U4atac snRNA binding activity and pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition and spliceosomal tri-snRNP complex assembly. Predicted to be part of U6atac snRNP. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— RNU6ATAC

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ClinVar Variants

7 unique Pathogenic / Likely Pathogenic· 4 VUS of 11 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

11 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7

VUS4

Pathogenic

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Non-coding	Total
Pathogenic	7	7
Likely Pathogenic	0	0
VUS	4	4
Likely Benign	0	0
Benign	0	0
Total	11	11

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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40 pathogenic / likely-pathogenic (of 48) ClinVar copy-number / structural variants overlap RNU6ATAC — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →