ZNF517
Homo sapiens
Gene Name: Zinc finger protein 517
Aliases:
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
A novel recurrent deletion involving an exonic region of the ZNF517 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families.
Molecular Function
May be involved in transcriptional regulation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN499R003
stop_gained
c.543C>G
p.Tyr181Ter
De novo
Unknown
GEN499R004
frameshift_variant
c.1158del
p.Lys387SerfsTer46
Familial
Paternal
Multiplex
Common
No Common Variants Available
