Human Gene Module / Chromosome 17 / VEZF1

VEZF1vascular endothelial zinc finger 1

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
1 / 0
Aliases
VEZF1, DB1,  ZNF161
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
17q22
Associated Disorders
-
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.

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)
Common Variants  

No common variants reported.

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