VIRMA

Chr 8

vir like m6A methyltransferase associated

Also known as: KIAA1429, MSTP054, fSAP121

The VIRMA protein acts as a key regulator of RNA N6-methyladenosine (m6A) methylation by recruiting catalytic components to guide methylation at specific sites in mRNA 3'-UTRs, playing an essential role in mRNA splicing, processing, and polyadenylation. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that complete loss of function is likely incompatible with normal development.

Summary from RefSeq, UniProt
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0
Active trials
29
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.28
LOEUF· LoF intol.
Mechanism
Clinical SummaryVIRMA
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.28LOEUF
pLI 0.994
Z-score 6.83
OE 0.18 (0.120.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.77Z-score
OE missense 0.75 (0.700.79)
706 obs / 945.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.18 (0.120.28)
00.351.4
Missense OE0.75 (0.700.79)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 15 / 81.5Missense obs/exp: 706 / 945.8Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

VIRMA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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