ZC3H11A
Homo sapiens
Gene Name: zinc finger CCCH-type containing 11A
Aliases: ZC3HDC11A
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Rare single gene variant-
Aliases: ZC3HDC11A
Chromosome No: 1
Chromosome Band: 1q32.1
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 3
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 3
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
A de novo nonsense variant in the ZC3H11A gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), and a de novo missense variant that was predicted to be damaging was identified in this gene in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified ZC3H11A as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
Involved in nuclear mRNA export; probably mediated by association with the TREX complex.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD