SPOUT1

Chr 9AR

SPOUT domain containing methyltransferase 1

Also known as: C9orf114, CENP-32, CENP32, HSPC109, NEDGSB

SPOUT1 encodes an S-adenosyl-L-methionine-dependent RNA methyltransferase that methylates 28S rRNA, maintains centrosome positioning during mitosis, and regulates miRNA processing including MIR145. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and brain malformations, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIMResearchSummary from RefSeq, UniProt
ARLOEUF 1.001 OMIM phenotype
Clinical SummarySPOUT1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.00LOEUF
pLI 0.000
Z-score 1.56
OE 0.67 (0.461.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.31Z-score
OE missense 0.76 (0.670.86)
177 obs / 233.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.67 (0.461.00)
00.351.4
Missense OE0.76 (0.670.86)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 17 / 25.5Missense obs/exp: 177 / 233.2Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPOUT1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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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