ZNF713
Homo sapiens
Gene Name: Zinc finger protein 713
Aliases:
Chromosome No: 7
Chromosome Band: 7p11.2
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 7
Chromosome Band: 7p11.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A was identified in a male ASD patient due to a CGG-repeat expansion mutation (~450 repeats) in a 5' intron of the ZNF713 gene; in a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations (Metsu et al., 2014).
Molecular Function
May be involved in transcriptional regulation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN634R001
trinucleotide_repeat_microsatellite_feature
(CGG)~450
De novo
Simplex
GEN634R002
trinucleotide_repeat_microsatellite_feature
(CGG)66-70
Familial
Paternal
Multiplex
Common
No Common Variants Available