ZNF865zinc finger protein 865
Autism Reports / Total Reports
4 / 5Rare Variants / Common Variants
22 / 0Aliases
-Associated Syndromes
-Chromosome Band
19q13.42Associated Disorders
-Relevance to Autism
Bradbrook et al., 2025 described a cohort of 18 patients with protein-truncating variants in the ZNF865 gene (the majority of which were de novo in origin and clustered toward the C-terminus) presenting with a neurodevelopmental disorder characterized by speech delay, cognitive delay or intellectual disability, hypotonia, brain MRI abnormalities, and dysmorphic features; seven patients were reported to have been diagnosed with autism spectrum disorder, with two additional patients having autistic features without a confirmed diagnosis. Additional de novo variants in ZNF865, including two protein-truncating variants and four missense variants, have been reported in ASD probands from the Simons Simplex Collection, SPARK, the Autism Sequencing Consortium, MSSNG, and a Chinese ASD cohort (Satterstrom et al., 2020; Zhou et al., 2022; Wang et al., 2023).
Molecular Function
Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.
SFARI Genomic Platforms
Reports related to ZNF865 (5 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
| 2 | Support | - | Zhou X et al. (2022) | Yes | - |
| 3 | Support | - | Wang J et al. (2023) | Yes | - |
| 4 | Primary | - | Samuel M Bradbrook et al. (2026) | No | ASD, epilepsy/seizures |
| 5 | Support | - | Richard G Boles et al. (2025) | Yes | ID |
Rare Variants (22)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.2015C>A | p.Ser672Ter | stop_gained | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2091C>G | p.Tyr697Ter | stop_gained | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2141G>A | p.Trp714Ter | stop_gained | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2142G>A | p.Trp714Ter | stop_gained | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.1381G>T | p.Ala461Ser | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.2629C>G | p.Arg877Gly | missense_variant | De novo | - | Simplex | 37393044 | Wang J et al. (2023) | |
| c.1999C>T | p.Leu667= | synonymous_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.539C>T | p.Pro180Leu | missense_variant | De novo | - | Multiplex | 35982159 | Zhou X et al. (2022) | |
| c.1256C>T | p.Ala419Val | missense_variant | De novo | - | - | 31981491 | Satterstrom FK et al. (2020) | |
| c.1718C>T | p.Thr573Met | missense_variant | De novo | - | - | 41010044 | Richard G Boles et al. (2025) | |
| c.2304_2305delTG | p.Gly770Ter | stop_gained | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2038del | p.Asp680IlefsTer6 | frameshift_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.2952del | p.Pro985ArgfsTer97 | frameshift_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
| c.2395C>T | p.Gln799Ter | stop_gained | Unknown | Not maternal | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.194del | p.Pro65ArgfsTer98 | frameshift_variant | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.1616del | p.Gly539GlufsTer27 | frameshift_variant | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2339del | p.Gly780ValfsTer29 | frameshift_variant | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2351del | p.Gly784ValfsTer25 | frameshift_variant | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2363del | p.Gly788AlafsTer21 | frameshift_variant | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.1951del | p.Ala651ProfsTer17 | frameshift_variant | Familial | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.2398_2399del | p.Ser800PhefsTer163 | frameshift_variant | De novo | - | - | 40936200 | Samuel M Bradbrook et al. (2026) | |
| c.1573_1574dup | p.His526ProfsTer41 | frameshift_variant | Unknown | Not maternal | - | 40936200 | Samuel M Bradbrook et al. (2026) |
Common Variants
No common variants reported.