Human Gene Module / Chromosome 20 / TM9SF4

TM9SF4transmembrane 9 superfamily member 4

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
1 / 0
Aliases
TM9SF4, dJ836N17.2
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
20q11.21
Associated Disorders
-
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.

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)
Common Variants  

No common variants reported.

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SFARI Gene Update

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