Aliases: DOP1, DOPEY1, KIAA1117, dJ202D23.2
Chromosome No: 6
Chromosome Band: 6q14.1
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 8
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 8
Evidence score: 3
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Relevance to Autism
Ariyama et al., 2026 identified 11 patients from 8 families with either de novo heterozygous or homozygous variants in DOP1A presenting with neurodevelopmental phenotypes, including developmental delay in all individuals and intellectual disability in 8 individuals, as well as autistic features in 4 individuals and sterotypic behavior in two others; in the same report, the authors observed behavioral abnormalities, including impaired discrimination of novel and familiar mice in the 3-chamber social interaction assay, in both Dop1a knockout mice and mice harboring a patient-derived p.Arg355Cys variant. De novo variants in DOP1A, including a de novo loss-of-function variant and four de novo missense variants, have been identified in ASD probands from the SPARK cohort, the Autism Sequencing Consortium, and a Chinese ASD cohort (Zhou et al., 2022; Fu et al., 2022; Trost et al., 2022; Wang et al., 2023; Tan et al., 2025).
Molecular Function
Predicted to be involved in Golgi to endosome transport and endoplasmic reticulum organization. Predicted to be located in Golgi membrane. Predicted to be active in endosome and trans-Golgi network. Ariyama et al., 2026 recently demonstrated that Dop1a regulates nuclear phospholipid homeostatis under the control of mTOR signaling, and that loss of Dop1a resulted in neural cell overgrowth and compromised neural development in mice.
External Links
