NFE2L3nuclear factor, erythroid 2 like 3
Autism Reports / Total Reports2 / 3
Rare Variants / Common Variants2 / 0
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
De novo likely gene-disruptive (LGD) variants in the NFE2L3 gene have been identified in two ASD probands (Iossifov 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 NFE2L3 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1); NFE2L3 was similarly identified as a gene with an excess of de novo LGD variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope.
Reports related to NFE2L3 (3 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||Support||Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.||C Yuen RK , et al. (2017)||Yes||-|
|3||Recent Recommendation||Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.||Coe BP , et al. (2018)||No||-|
Rare Variants (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1261_1264del||p.Ser422fs||frameshift_variant||De novo||-||Simplex||25363768||Iossifov I , et al. (2014)|
|c.946_947insAT||p.Glu317MetfsTer30||frameshift_variant||De novo||-||Simplex||28263302||C Yuen RK , et al. (2017)|
No common variants reported.
CNVs associated with NFE2L3(1 CNVs)
|7p15.2||12||Deletion-Duplication||18 / 20|