CCSER1
Homo sapiens
Gene Name: coiled-coil serine rich protein 1
Aliases: FAM190A
Chromosome No: 4
Chromosome Band: 4q22.1
Genetic Category: Rare single gene variant
Aliases: FAM190A
Chromosome No: 4
Chromosome Band: 4q22.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo nonsense variant in the CCSER1 gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), while a paternally-transmitted nonsense variant in this gene was observed in all four affected siblings from an ASD multiplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified CCSER1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Recent Recommendation
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD