ZNF774
Homo sapiens
Gene Name: Zinc finger protein 774
Aliases:
Chromosome No: 15
Chromosome Band: 15q26.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 15
Chromosome Band: 15q26.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 8
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo missense variant in this gene has been identified in a simplex ASD proband (De Rubeis et al., 2014). Furthermore, an inherited LoF variant in this gene was observed in both affected siblings from a quartet ASD family (Yuen et al., 2015). This gene was also included in a set of genes strongly enriched for those likely to affect risk (FDR < 0.30) (De Rubeis, et al., 2014).
Molecular Function
The protein encoded by this gene may be involved in transcriptional regulation (by similarity).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN705R002
frameshift_variant
c.299_314del
p.Asp100ValfsTer11
Familial
Maternal
Multiplex
GEN705R005
frameshift_variant
TGTCCTGAGTGTGGCAA>T
Familial
Paternal
Simplex
GEN705R007
missense_variant
c.1032G>C
p.Glu344Asp
Familial
Maternal
Simplex
Common
No Common Variants Available
