Relevance to Autism

A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified SCAF1 as a gene reaching exome-wide significance (P < 2.5E-06); association of SCAF1 with ASD risk was driven by both de novo variants and rare loss-of-function variants. Wilfert et al., 2021 identified two ultra-rare inherited frameshift variants in SCAF1 that were exclusively transmitted to ASD probands from two independent families.

Molecular Function

Enables RNA polymerase II C-terminal domain binding activity. Predicted to be involved in RNA splicing; mRNA processing; and transcription by RNA polymerase II. Predicted to be located in nucleus.

External Links

References