VEZF1vascular endothelial zinc finger 1
Autism Reports / Total Reports2 / 2
Rare Variants / Common Variants1 / 0
AliasesVEZF1, DB1, ZNF161
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 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).
Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3.
Reports related to VEZF1 (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.626A>C||p.Gln209Pro||missense_variant||De novo||NA||Simplex||25363760||De Rubeis S , et al. (2014)|
No common variants reported.