SND1
Homo sapiens
Gene Name: staphylococcal nuclease and tudor domain containing 1
Aliases: p100; TDRD11; SND1, TSN
Chromosome No: 7
Chromosome Band: 7q32.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases: p100; TDRD11; SND1, TSN
Chromosome No: 7
Chromosome Band: 7q32.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 3
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
ASD Reports: 10
Recent Reports: 3
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the SND1 gene and autism in a Northern Dutch population cohort (Holt et al., 2010). Recently, a de novo missense variant in this gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2012).
Molecular Function
A component of the RNA-induced silencing complex (RISC)
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Linkage and candidate gene studies of autism spectrum disorders in European populations.
ASD
Highly Cited
The RISC subunit Tudor-SN binds to hyper-edited double-stranded RNA and promotes its cleavage.
Highly Cited
Identification of p100 as a coactivator for STAT6 that bridges STAT6 with RNA polymerase II.
Recent Recommendation
Tudor staphylococcal nuclease is an evolutionarily conserved component of the programmed cell death degradome.
Recent Recommendation
Structural basis for methylarginine-dependent recognition of Aubergine by Tudor.
Recent Recommendation
Plasmodium falciparum Tudor Staphylococcal Nuclease interacting proteins suggest its role in nuclear as well as splicing processes.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN239C001
intron_variant
rs1881084
c.841-213G>A;c.778-213G>A
N/A
Northern Dutch
Discovery
