SRSF1 Chromosome 17
Serine and arginine rich splicing factor 1
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What This Gene Does
This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"RNA binding motif containing|Serine and arginine rich splicing factors"
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000136450
Associated Conditions (4)
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Intellectual disability
Neurodevelopmental delay
Inborn genetic diseases
Key Variants
RS2143492189
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual disability, Neurodevelopmental delay
Health Risk
RS1477879201
Pathogenic
Intellectual disability, Neurodevelopmental delay, Intellectual disability
Health Risk
RS2509284731
Pathogenic
Intellectual disability, Neurodevelopmental delay, Intellectual disability
Health Risk
RS2509284749
Pathogenic
Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Health Risk
RS2509285717
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2509287238
Pathogenic
Intellectual disability, Neurodevelopmental delay, Intellectual disability
Health Risk
RS2509287599
Pathogenic
Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Health Risk
RS2509287701
Pathogenic
Intellectual disability, Neurodevelopmental delay, Intellectual disability
Health Risk
RS2509290322
Pathogenic
Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Health Risk
RS2509290420
Pathogenic
Intellectual disability, Neurodevelopmental delay, Intellectual disability
Health Risk
RS911995391
Pathogenic
Intellectual disability, Neurodevelopmental delay, Intellectual disability
Health Risk
RS2509285683
Pathogenic/Likely pathogenic
Neurodevelopmental delay, Intellectual disability, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143492189 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual disability, Neurodevelopmental delay |
| RS1477879201 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Intellectual disability |
| RS2509284731 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Intellectual disability |
| RS2509284749 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2509285717 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2509287238 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Intellectual disability |
| RS2509287599 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2509287701 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Intellectual disability |
| RS2509290322 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities |
| RS2509290420 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Intellectual disability |
| RS911995391 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental delay, Intellectual disability |
| RS2509285683 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Intellectual disability, Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities |