Summary Statistics:
Gene Score: 4
Relevance to Autism
A de novo nonsense variant in the NFIA gene was identified in an ASD proband from the Simons Simplex Collection in PMID 22542183. PMID 25961944 identified a de novo missense variant in another ASD proband from the Simons Simplex Collection; no de novo SNVs in this gene were observed in unaffected SSC siblings (P=0.02). A rare deletion in the NFIA gene has been identified with intellectual disability and bipolar disorder (PMID 22031302).
Molecular Function
This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. This protein recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.
References
Primary
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
ID
BPD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
ID
Support
ASD, DD, epilepsy/seizures
ADHD, BPD, MDD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Learning disability, psychiatric symptoms
Support
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, macrocephaly, dysmorphic features
Support
Integrating de novo and inherited variants in 42
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Rare variants in the outcome of social skills group training for autism
ASD
Recent Recommendation
Chromatin Decondensation by FOXP2 Promotes Human Neuron Maturation and Expression of Neurodevelopmental Disease Genes.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
GEN290R001
copy_number_loss
GEN290R002
stop_gained
c.247C>T
p.Arg83Ter
De novo
Simplex
GEN290R003
copy_number_gain
Unknown
Unknown
GEN290R004
copy_number_gain
Unknown
Unknown
GEN290R005
missense_variant
c.950C>T
p.Thr317Met
De novo
Simplex
GEN290R006
intron_variant
c.625+19661del
Unknown
GEN290R007
intergenic_variant
insT
Unknown
GEN290R008
missense_variant
c.1049G>A
p.Ser350Asn
Familial
Paternal
GEN290R009
missense_variant
c.1594G>A
p.Val532Ile
Familial
Paternal
GEN290R010
stop_gained
c.66C>A
p.Cys22Ter
Unknown
GEN290R011
inversion
De novo
GEN290R012
stop_gained
c.397C>T
p.Arg133Ter
Unknown
Not maternal
Simplex
GEN290R013
splice_site_variant
c.1052-1G>C
p.?
De novo
Unknown
GEN290R014
splice_site_variant
c.946+1G>C
Unknown
GEN290R015
missense_variant
c.1547C>A
p.Thr516Lys
Familial
Maternal
GEN290R016
missense_variant
c.1547C>A
p.Thr516Lys
Familial
Maternal
GEN290R017
missense_variant
c.998C>G
p.Pro333Arg
Unknown
GEN290R018
frameshift_variant
c.839del
p.Pro280GlnfsTer2
Unknown
GEN290R019
splice_site_variant
c.946+1G>A
Unknown
GEN290R020
missense_variant
c.1301G>A
p.Arg434His
Unknown
GEN290R021
stop_gained
c.385C>T
p.Arg129Ter
Familial
Maternal
GEN290R022
missense_variant
c.161A>C
p.Gln54Pro
De novo
Simplex
GEN290R023
initiator_codon_variant
c.1A>G
p.Met1?
Unknown
GEN290R024
missense_variant
c.523G>C
p.Asp175His
De novo
Multiplex
GEN290R025
inframe_insertion
c.607_609dup
p.Asn203dup
De novo
Simplex
GEN290R026
stop_gained
c.1186C>T
p.Arg396Ter
Unknown
Simplex
GEN290R027
stop_gained
c.261T>G
p.Tyr87Ter
De novo
GEN290R028
missense_variant
c.344G>A
p.Arg115Gln
De novo
GEN290R029
frameshift_variant
c.887_888del
p.Gly296AlafsTer16
De novo
GEN290R030
missense_variant
c.362G>C
p.Arg121Pro
Familial
Maternal
Multiplex
No Common Variants Available
1
Deletion-Duplication
24
No Interactions Available
