Human Gene Module / Chromosome 2 / NCOA1

NCOA1nuclear receptor coactivator 1

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
5 / 0
Aliases
NCOA1, F-SRC-1,  KAT13A,  RIP160,  SRC1,  bHLHe42,  bHLHe74
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
2p23.3
Associated Disorders
-
Relevance to Autism

A de novo missense variant in the NCOA1 gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). Two de novo variants (a nonsense variant and a second missense variant) in this gene were subsequently identified in ASD probands from the Autism Sequencing Consortium, as were two protein-truncating variants in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified NCOA1 as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).

Molecular Function

The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion.

Reports related to NCOA1 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Recent recommendation Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
Rare Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.4156-104A>G - synonymous_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
c.568C>T p.Arg190Ter stop_gained De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.845C>G p.Ala282Gly missense_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
c.1017C>T p.Ser339= synonymous_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
c.3399G>A p.Met1133Ile missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
Common Variants  

No common variants reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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