ZC3H4
Homo sapiens
Gene Name: zinc finger CCCH-type containing 4
Aliases: C19orf7
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant
Aliases: C19orf7
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 27
Associated CNVs: 2
Evidence score: 3
ASD Reports: 6
Recent Reports: 1
Annotated variants: 27
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Two de novo frameshift variants in the ZC3H4 gene were identified in the same ASD proband from the Simons Simplex Collection in Iossifov et al., 2014.
Molecular Function
This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
