Aliases:
Chromosome No: 17
Chromosome Band: 17q25.3
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 6
Recent Reports: 1
Annotated variants: 16
Associated CNVs: 10
Evidence score: 3
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Relevance to Autism
A de novo coding-synonymous variant in the TNRC6C gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014; functional assessment of this variant by a high throughput Massively Parallel Splicing Assay (MaPSY) in Rhine et al., 2022 demonstrated that this variant disrupted splicing, and this functional effect was further validated by RT-PCR. Additional rare de novo non-coding variation in this gene has also been observed in ASD probands (Yuen et al., 2017; Turner et al., 2017).
Molecular Function
Predicted to enable RNA binding activity. Involved in gene silencing by miRNA; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; and positive regulation of nuclear-transcribed mRNA poly(A) tail shortening. Predicted to be located in cytosol. Predicted to be active in P-body and nucleoplasm.
External Links
