Aliases: EPEDD, KMT2F, Set1, Set1A
Chromosome No: 16
Chromosome Band: 16p11.2
Genetic Category: Rare single gene variant-Syndromic-Functional-Genetic association-Rare single gene variant/Functional
ASD Reports: 19
Recent Reports: 2
Annotated variants: 39
Associated CNVs: 3
Evidence score: 3
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Relevance to Autism
De novo missense variants in the SETD1A gene were identified in two ASD probands (Yuen et al., 2017), while a de novo likely gene-disruptive variant in this gene was observed in an ASD proband from the SPARK cohort (Feliciano et al., 2019). Kummeling et al., 2020 reported 15 individuals with de novo SETD1A variants presenting with a novel neurodevelopmental syndrome characterized by global developmental delay and/or intellectual disability, behavioral/psychiatric abnormalities, and craniofacial dysmorphisms; 3/14 individuals in this cohort presented with autistic behavior.
Molecular Function
The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily.
External Links
