Human Gene Module / Chromosome 20 / ZMYND8

ZMYND8zinc finger MYND-type containing 8

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
4 / 4
Rare Variants / Common Variants
5 / 0
Aliases
ZMYND8, PRKCBP1,  PRO2893,  RACK7
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
20q13.12
Associated Disorders
-
Relevance to Autism

De novo variants in the ZMYND8 gene, including two protein-truncating variants, have been identified in ASD probands from the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genetic Resource Exchange (Iossifov et al., 2014; Yuen et al., 2017; Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified ZMYND8 as a candidate gene with a false discovery rate (FDR) between 0.01 and 0.05 (0.01 < FDR 0.05).

Molecular Function

The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator.

Reports related to ZMYND8 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017) Yes -
3 Recent recommendation Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
4 Support A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders Suzuki T et al. (2020) Yes -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2032G>A p.Ala678Thr missense_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
c.1786A>G p.Ile596Val missense_variant De novo NA Multiplex 28263302 C Yuen RK et al. (2017)
c.2154_2158del p.Arg719GlyfsTer5 frameshift_variant De novo NA Simplex 32530565 Suzuki T et al. (2020)
c.1964dup p.Pro656AlafsTer10 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.3621del p.Ser1208ArgfsTer62 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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