PRMT9

Chr 4AR

protein arginine methyltransferase 9

Also known as: MRT85, PRMT10

This gene encodes a type II methyltransferase. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to the guanidino nitrogen atoms of arginine. The protein encoded by this gene methylates spliceosome associated protein 145 to regulate alternative splicing and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2017]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 85MIM #621649
AR

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
0.93
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.90
OE 0.66 (0.480.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.28Z-score
OE missense 0.83 (0.760.91)
376 obs / 452.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.480.93)
00.351.4
Missense OE?0.83 (0.760.91)
00.61.4
Synonymous OE?0.85
01.21.6
LoF obs/exp: 24 / 36.4Missense obs/exp: 376 / 452.6Syn Z: 1.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRMT9 · 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.

Search ClinicalTrials.gov →