MAPT-AS1MAPT antisense RNA 1
Autism Reports / Total Reports
1 / 1Rare Variants / Common Variants
0 / 1Aliases
-Associated Syndromes
-Chromosome Band
17q21.31Associated 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
SFARI Genomic Platforms
Reports related to MAPT-AS1 (1 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism | Matoba N et al. (2020) | Yes | - |
Rare Variants
No rare variants reported.
Common Variants (1)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Paternal Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | intron_variant | - | - | - | 32747698 | Matoba N et al. (2020) |
SFARI Gene score
2
Strong Candidate
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
4/1/2022
2
Increased from to 2
Krishnan Probability Score
Score 0.48743524500305
Ranking 6979/25841 scored genes
[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning
approach on a human brain-specific gene network. The method was first presented in Nat
Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed
in column G of supplementary table 3 (see:
http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser,
with the ability to view networks of associated ASD risk genes, can be found at
asd.princeton.edu.