SPOUT1 Chromosome 9
SPOUT domain containing methyltransferase 1
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What This Gene Does
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]
Gene Info
Gene Group
"SPOUT methyltransferase domain containing|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000198917
Associated Conditions (6)
Neurodevelopmental disorder
SPOUT1-associated neurodevelopmental disorder
Neurodevelopmental disorder with poor growth
seizures
and brain abnormalities
Undetermined early-onset epileptic encephalopathy
Key Variants
RS1018452459
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, SPOUT1-associated neurodevelopmental disorder, Neurodevelopmental disorder with poor growth
Health Risk
RS149761259
Conflicting classifications of pathogenicity
Neurodevelopmental disorder, Neurodevelopmental disorder with poor growth, seizures
Health Risk
RS1830177686
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2490935545
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder with poor growth, seizures
Health Risk
RS374919043
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS756797528
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS771013793
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS771869476
Likely pathogenic
Neurodevelopmental disorder, Undetermined early-onset epileptic encephalopathy, Neurodevelopmental disorder with poor growth
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1018452459 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, SPOUT1-associated neurodevelopmental disorder, Neurodevelopmental disorder with poor growth |
| RS149761259 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder, Neurodevelopmental disorder with poor growth, seizures |
| RS1830177686 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2490935545 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder with poor growth, seizures |
| RS374919043 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS756797528 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS771013793 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS771869476 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Undetermined early-onset epileptic encephalopathy, Neurodevelopmental disorder with poor growth |