Aliases: DB1, ZNF161
Chromosome No: 17
Chromosome Band: 17q22
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
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 VEZF1 gene in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), while three 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 VEZF1 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).
Molecular Function
Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3.
External Links
