Summary Statistics:
Gene Score: 3
Relevance to Autism
De novo variants in the NAV2 gene, including two missense variants and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator, have been observed in ASD probands (Sanders et al., 2012; O'Roak et al., 2012; Iossifov et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 1.78E-02 (Takata et al., 2016).
Molecular Function
This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. The protein encoded by the NAV2 gene possesses 3' to 5' helicase activity and exonuclease activity and is involved in neuronal development, specifically in the development of different sensory organs.
References
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
DD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Sensory deficits in mice hypomorphic for a mammalian homologue of unc-53.
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
DD
Support
Neurogenetic analysis of childhood disintegrative disorder.
Childhood disintegrative disorder
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
GEN814R001
missense_variant
c.7405G>A
p.Asp2469Asn
De novo
Simplex
GEN814R002
missense_variant
c.892C>T
p.Arg298Cys
De novo
Simplex
GEN814R003
synonymous_variant
c.6210C>T
p.Asp2070=
De novo
Simplex
GEN814R004
missense_variant
c.3446G>A
p.Ser1149Asn
Familial
Maternal
GEN814R005
missense_variant
c.2432G>A
p.Arg811Gln
Familial
Maternal
GEN814R006
missense_variant
c.2432G>A
p.Arg811Gln
Familial
Maternal
GEN814R007
missense_variant
c.4555C>T
p.Arg1519Cys
Familial
Maternal
GEN814R008
missense_variant
c.3707G>A
p.Ser1236Asn
Familial
Paternal
GEN814R009
missense_variant
c.2924G>A
p.Arg975Gln
Familial
Paternal
GEN814R010
missense_variant
c.6419C>T
p.Ser2140Leu
Familial
Paternal
GEN814R011
missense_variant
c.6878G>A
p.Arg2293Gln
Familial
Paternal
GEN814R012
splice_site_variant
c.4875+1G>A
Unknown
GEN814R013
missense_variant
c.6136C>T
p.Arg2046Trp
De novo
Simplex
GEN814R014
missense_variant
c.125G>A
p.Arg42His
De novo
Multiplex
GEN814R015
missense_variant
c.2441G>A
p.Arg814Gln
Familial
Maternal
Simplex
GEN814R016a
frameshift_variant
c.5179_5180delAG
p.Leu1728TrpfsTer2
Familial
Maternal
Simplex
GEN814R016b
frameshift_variant
c.6757delA
p.Ile12253Ter
Familial
Paternal
Simplex
GEN814R017
missense_variant
c.1093C>T
p.Arg365Trp
Unknown
GEN814R018
inframe_insertion
c.587_589dup
p.Gln196dup
De novo
Simplex
GEN814R019
synonymous_variant
c.45C>A
p.Pro15%3D
De novo
Simplex
GEN814R020
synonymous_variant
c.5793C>T
p.Leu1931%3D
De novo
Simplex
GEN814R021
synonymous_variant
c.1551G>A
p.Ala517%3D
De novo
GEN814R022
synonymous_variant
c.4677G>A
p.Ser1559%3D
De novo
GEN814R023
synonymous_variant
c.4284C>T
p.Ser1428%3D
De novo
Multiplex
GEN814R024
missense_variant
c.2596G>A
p.Val866Ile
De novo
GEN814R025
missense_variant
c.3332A>G
p.Lys1111Arg
De novo
Simplex
GEN814R026a
frameshift_variant
c.5011_5012del
p.Leu1672TrpfsTer2
Familial
Maternal
GEN814R026b
frameshift_variant
c.6580del
p.Ile2194Ter
Familial
Paternal
No Common Variants Available
11
Deletion-Duplication
20
No Interactions Available
