TM9SF4transmembrane 9 superfamily member 4
Autism Reports / Total Reports2 / 2
Rare Variants / Common Variants1 / 0
Genetic CategoryRare Single Gene Mutation
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).
Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface.
Reports related to TM9SF4 (2 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Synaptic, transcriptional and chromatin genes disrupted in autism.||De Rubeis S , et al. (2014)||Yes||-|
|2||Recent recommendation||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.||Satterstrom FK , et al. (2020)||Yes||-|
Rare Variants (1)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1136T>A||p.Met379Lys||missense_variant||De novo||NA||Simplex||25363760||De Rubeis S , et al. (2014)|
No common variants reported.