DOP1ADOP1 leucine zipper like protein A
Autism Reports / Total Reports
7 / 8Rare Variants / Common Variants
15 / 0Aliases
-Associated Syndromes
-Chromosome Band
6q14.1Associated Disorders
-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
SFARI Genomic Platforms
Reports related to DOP1A (8 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | - | Shi, Lingling et al. (2013) | Yes | - |
| 2 | Support | Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort | Callaghan DB , et al. (2019) | Yes | - |
| 3 | Support | - | Zhou X et al. (2022) | Yes | - |
| 4 | Support | - | Fu JM et al. (2022) | Yes | - |
| 5 | Support | - | Trost B et al. (2022) | Yes | - |
| 6 | Support | - | Wang J et al. (2023) | Yes | - |
| 7 | Support | - | Senwei Tan et al. () | Yes | - |
| 8 | Primary | - | Ariyama, Hirotaka et al. (2026) | No | Autistic features, stereotypy |
Rare Variants (15)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| G>C | - | splice_site_variant | De novo | - | Simplex | 39472663 | Senwei Tan et al. () | |
| c.173C>A | p.Pro58His | missense_variant | De novo | - | - | 35982160 | Fu JM et al. (2022) | |
| c.6940C>T | p.Arg2314Ter | stop_gained | Unknown | - | - | 31038196 | Callaghan DB , et al. (2019) | |
| c.411T>G | p.Gly137= | synonymous_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.1399T>A | p.Leu467Ile | missense_variant | De novo | - | Simplex | 37393044 | Wang J et al. (2023) | |
| c.7129G>A | p.Gly2377Ser | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.3682G>A | p.Val1228Met | missense_variant | De novo | - | Simplex | 36368308 | Trost B et al. (2022) | |
| c.6119T>G | p.Leu2040Ter | stop_gained | De novo | - | Simplex | 42164854 | Ariyama, Hirotaka et al. (2026) | |
| c.7241G>A | p.Arg2414Gln | missense_variant | Familial | - | Multiplex | 23597238 | Shi, Lingling et al. (2013) | |
| c.1063C>T | p.Arg355Cys | missense_variant | De novo | - | Simplex | 42164854 | Ariyama, Hirotaka et al. (2026) | |
| c.5977C>T | p.Arg1993Ter | stop_gained | Familial | Both parents | Multiplex | 42164854 | Ariyama, Hirotaka et al. (2026) | |
| c.1234_1238del | p.Asn412GlufsTer7 | frameshift_variant | De novo | - | Simplex | 42164854 | Ariyama, Hirotaka et al. (2026) | |
| c.4093_4096del | p.Leu1365IlefsTer27 | frameshift_variant | De novo | - | Simplex | 42164854 | Ariyama, Hirotaka et al. (2026) | |
| c.2894G>T | p.Ser965Ile | missense_variant | Familial | Both parents | Multiplex | 42164854 | Ariyama, Hirotaka et al. (2026) | |
| c.5368_5369del | p.Ile1790CysfsTer10 | frameshift_variant | De novo | - | Multiplex | 42164854 | Ariyama, Hirotaka et al. (2026) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence
criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.