SYNJ1
Homo sapiens
Gene Name: synaptojanin 1
Aliases: EIEE53, INPP5G, PARK20
Chromosome No: 21
Chromosome Band: 21q22.11
Genetic Category: Rare single gene variant
Aliases: EIEE53, INPP5G, PARK20
Chromosome No: 21
Chromosome Band: 21q22.11
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 4
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two non-synonymous postzygotic mosaic mutations (PZMs) in the SYNJ1 gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 8/84,448 expected; hypergeometric P-value of 1.2E-03).
Molecular Function
This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD