Aliases: dJ836N17.2
Chromosome No: 20
Chromosome Band: 20q11.21
Genetic Category: Rare single gene variant-Multigenic CNV
ASD Reports: 5
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
A de novo missense variant that was predicted to be damaging (defined as MPC 2) was identified in the TM9SF4 gene in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), while four protein-truncating variants in this gene were observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified TM9SF4 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
Molecular Function
Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface.
External Links
