MSANTD2
Homo sapiens
Gene Name: Myb/SANT DNA binding domain containing 2
Aliases: C11orf61
Chromosome No: 11
Chromosome Band: 11q24.2
Genetic Category: Rare single gene variant
Aliases: C11orf61
Chromosome No: 11
Chromosome Band: 11q24.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 6
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two non-synonymous postzygotic mosaic mutations (PZMs) in the MSANTD2 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 genome-wide based on background rates (2/571 observed vs. 1/84,448 expected; hypergeometric P-value < 1.0E-06).
Molecular Function
This gene encodes a protein of unknown function.
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