MAPT-AS1
Homo sapiens
Gene Name: MAPT antisense RNA 1
Aliases:
Chromosome No: 17
Chromosome Band: 17q21.31
Genetic Category: Genetic association
Aliases:
Chromosome No: 17
Chromosome Band: 17q21.31
Genetic Category: Genetic association
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
| Associated Disorders: |
|
Relevance to Autism
An intronic polymorphism in the MAPT-AS1 gene (rs112436750) was the index SNP for a loci that reached genome-wide significance with ASD (odds ratio 1.09 (95% CI 1.061.12), P-value 2.62E-08) in a meta-analysis of European case-pseudocontrol pairs from the SPARK cohort and the iPSYCH-PGC GWAS (Matoba et al., 2020).
Molecular Function
MAPT-AS1 encodes for a non-coding RNA that shows biased expression in brain, testis, adrenal tissue, and kidney.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism
ASD
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN1206C001
intron_variant
rs112436750
18,381 cases and 27,969 controls (European case-pseudocontrol pairs from the SPARK cohort and the iPSYCH-PGC GWAS)
Discovery