SSPOP
Homo sapiens
Gene Name: SCO-spondin, pseudogene
Aliases: SSPO
Chromosome No: 7
Chromosome Band: 7q36.1
Genetic Category: Rare single gene variant
Aliases: SSPO
Chromosome No: 7
Chromosome Band: 7q36.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 3
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the SSPOP gene (previously known as SSPO) were identified in simplex ASD probands, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.91) (Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
The protein encoded by this gene is involved in the modulation of neuronal aggregation and may be involved in developmental events during the formation of the central nervous system.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
DD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD