Human Gene Module / Chromosome 16 / CORO1A

CORO1Acoronin 1A

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
2 / 0
Aliases
CORO1A, CLABP,  CLIPINA,  HCORO1,  IMD8,  TACO,  p57
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
16p11.2
Associated Disorders
-
Relevance to Autism

Two de novo missense variants that were predicted to be probably damaging (defined as MPC 2) were identified in the CORO1A gene in ASD probands from the Autism Sequencing Consortium (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 CORO1A as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).

Molecular Function

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation.

Reports related to CORO1A (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Satterstrom FK , et al. (2020) Yes -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.38A>C p.His13Pro missense_variant De novo NA Simplex 31981491 Satterstrom FK , et al. (2020)
c.733C>G p.Arg245Gly missense_variant De novo NA Simplex 31981491 Satterstrom FK , et al. (2020)
Common Variants  

No common variants reported.

CNVs associated with CORO1A(1 CNVs)
16p11.2 113 Deletion-Duplication 177  /  1562
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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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