THAP8
Homo sapiens
Gene Name: THAP domain containing 8
Aliases:
Chromosome No: 19
Chromosome Band: 19q13.12
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 19
Chromosome Band: 19q13.12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 0
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).
Molecular Function
The protein encoded by this gene contains a THAP-type zinc finger and may be involved in DNA binding.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD