ZNF644zinc finger protein 644
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
3 / 0Aliases
-Associated Syndromes
-Chromosome Band
1p22.2Associated Disorders
-Relevance to Autism
Chen et al., 2025 integrated cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 non-coding de novo mutations (ncDNMs) in ASD probands from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts and identified a ncDNM that down-regulated expression of the ZNF644 gene in a MSSNG proband. A de novo loss-of-function variant and a de novo missense variant have also been identified in the ZNF644 gene in ASD probands (Iossifov et al., 2014; Tan et al., 2024).
Molecular Function
The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia (MYP21; OMIM 614167).
SFARI Genomic Platforms
Reports related to ZNF644 (3 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 2 | Support | - | Senwei Tan et al. () | Yes | - |
| 3 | Primary | - | Congcong Chen et al. () | Yes | - |
Rare Variants (3)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| G>A | - | intergenic_variant | De novo | - | Multiplex | 40738258 | Congcong Chen et al. () | |
| c.1609G>A | p.Glu537Lys | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
| c.873_876del | p.Arg291SerfsTer6 | frameshift_variant | De novo | - | Simplex | 39472663 | Senwei Tan et al. () |
Common Variants
No common variants reported.