ZNF626
Homo sapiens
Gene Name: zinc finger protein 626
Aliases:
Chromosome No: 19
Chromosome Band: 19p12
Genetic Category: Rare single gene variant-
Aliases:
Chromosome No: 19
Chromosome Band: 19p12
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 28
Associated CNVs: 6
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 28
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare inherited loss-of-function variants in the ZNF626 gene were observed in ASD probands from the Simons Simplex Collection in Krumm et al., 2015. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified ZNF626 as an ASD candidate gene with a PTADA of 0.000352.
Molecular Function
May be involved in transcriptional regulation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Recent Recommendation
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN944R015
frameshift_variant
TGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAAGCTTTGCCACATTCTTCACA
-444
Familial
Simplex
GEN944R028
frameshift_variant
c.347del
p.Gly116AspfsTer3
Familial
Maternal
Multiplex
Common
No Common Variants Available