Aliases:
Chromosome No: 2
Chromosome Band: 2p16.1
Genetic Category: Rare single gene variant-
ASD Reports: 7
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 3
Evidence score: 3
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Relevance to Autism
De novo missense variants in the PAPOLG gene have been identified in three ASD probands (De Rubeis et al., 2014; Yuen et al., 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified PAPOLG as a gene with an excess of missense variants with CADD scores > 30 (false discovery rata < 5%, count >1) (Coe et al., 2018).
Molecular Function
This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA.
External Links
