Aliases: Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155
Chromosome No: 2
Chromosome Band: 2q33.1
Genetic Category: Rare single gene variant-
ASD Reports: 6
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
De novo missense variants in the SF3B1 gene have been identified in three ASD probands (De Rubeis et al., 2014; Iossifov et al., 2014) and two probands with unspecified developmental disorders (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified SF3B1 as a gene with an excess of missense variants (false discovery rata < 5%, count >1) (Coe et al., 2018).
Molecular Function
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome.
External Links
