SPOUT1

Chr 9

SPOUT domain containing methyltransferase 1

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

NCBI Gene: 51490ENSG00000198917UniProt: Q5T280

Enables miRNA binding activity. Involved in maintenance of centrosome location and miRNA processing. Acts upstream of with a positive effect on post-transcriptional regulation of gene expression. Located in kinetochore; mitotic spindle; and spindle pole centrosome. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with poor growth, seizures, and brain abnormalities
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.56
OE 0.67 (0.46–1.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.31Z-score
OE missense 0.76 (0.67–0.86)
177 obs / 233.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.46–1.00)
0≤0.351.4
Missense OE?0.76 (0.67–0.86)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 17 / 25.5Missense obs/exp: 177 / 233.2Syn Z: 0.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients