Human Gene Module / Chromosome 7 / NFE2L3

NFE2L3nuclear factor, erythroid 2 like 3

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 3
Rare Variants / Common Variants
2 / 0
Associated Syndromes
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Associated Disorders
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).

Molecular Function

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)
Common Variants  

No common variants reported.

CNVs associated with NFE2L3(1 CNVs)
7p15.2 12 Deletion-Duplication 18  /  20
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