Summary Statistics:
Gene Score: 3
Relevance to Autism
Two separate association studies using families from AGRE in the discovery cohort identified two different SNPs in the JARID2 gene that demonstrated association with ASD (Weiss et al., 2009; Ramos et al., 2012).
Molecular Function
This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. During embryogenesis, JARID2 is predominantly expressed in neurons and particularly in dorsal root ganglion cells. Association studies have identified JARID2 as a possible susceptibility gene in schizophrenia (Pedrosa et al., 2007; Liu et al., 2009).
References
Primary
A genome-wide linkage and association scan reveals novel loci for autism.
ASD
Positive Association
Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations.
ASD
Positive Association
Whole genome association study in a homogenous population in Shandong peninsula of China reveals JARID2 as a susceptibility gene for schizophrenia.
SCZ
Positive Association
Positive association of schizophrenia to JARID2 gene.
SCZ
Negative Association
A study of single nucleotide polymorphisms in CD157, AIM2 and JARID2 genes in Han Chinese children with autism spectrum disorder.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
ID
Autistic behavior, stereotypic behavior
Support
Integrating de novo and inherited variants in 42
ASD
Support
Genome-wide characteristics of de novo mutations in autism
ASD
Support
A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype
ADHD, DD
Autistic features
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
DD
ASD, ID
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series
DD
ASD, ADHD, ID
Support
Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder.
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Recent Recommendation
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
DD, ID
ASD/autistic features
GEN374R001
missense_variant
c.1474C>T
p.Arg492Cys
Familial
Extended multiplex (at least one pair of ASD affec
GEN374R002
frameshift_variant
3539+GATGTACC(delGATGTACC)
1180-!
De novo
GEN374R003
missense_variant
c.2480G>A
p.Arg827Gln
De novo
Simplex
GEN374R004
missense_variant
c.2255C>T
p.Pro752Leu
De novo
GEN374R005
synonymous_variant
c.66G>A
p.Pro22=
De novo
Simplex
GEN374R006
copy_number_loss
De novo
GEN374R007
copy_number_loss
De novo
GEN374R008
copy_number_loss
De novo
GEN374R009
copy_number_loss
De novo
GEN374R010
copy_number_loss
Familial
Paternal
GEN374R011
copy_number_loss
Unknown
GEN374R012
copy_number_loss
De novo
GEN374R013
frameshift_variant
c.2350dup
p.Glu784GlyfsTer72
De novo
GEN374R014
stop_gained
c.2341C>T
p.Gln781Ter
Unknown
GEN374R015
frameshift_variant
c.2828dup
p.Ser944GlnfsTer71
De novo
GEN374R016
stop_gained
c.3379C>T
p.Arg1127Ter
De novo
GEN374R017
splice_site_variant
c.2215+1G>C
De novo
GEN374R018
missense_variant
c.351T>G
p.Phe117Leu
De novo
GEN374R019
missense_variant
c.2363G>A
p.Arg788Gln
De novo
GEN374R020
missense_variant
c.1930G>A
p.Glu644Lys
De novo
GEN374R021
splice_site_variant
c.323+2T>G
Unknown
GEN374R022
stop_gained
c.2533G>T
p.Glu845Ter
Familial
Maternal
GEN374R023
frameshift_variant
c.577_578del
p.Glu193ArgfsTer66
Familial
Paternal
GEN374R024
stop_gained
c.3217G>T
p.Glu1073Ter
Unknown
GEN374R025
copy_number_loss
De novo
GEN374R026
copy_number_loss
Unknown
GEN374R027
missense_variant
c.3338A>G
p.His1113Arg
Unknown
Not maternal
GEN374R028
copy_number_loss
Familial
Maternal
GEN374R029
copy_number_loss
De novo
GEN374R030
missense_variant
c.2363G>A
p.Arg788Gln
Familial
Maternal
GEN374R031
copy_number_gain
De novo
GEN374R032
synonymous_variant
c.1179C>T
p.Leu393%3D
De novo
GEN374R033
frameshift_variant
c.2180dup
p.Glu728GlyfsTer82
De novo
GEN374R034
missense_variant
c.3121T>C
p.Phe1041Leu
De novo
GEN374R035
copy_number_loss
De novo
GEN374C001
intron_variant
rs7766973
c.-472+18856C>T;c.45+21236C>T;c.-472+19761C>T;c.-330+18856C>T
AGRE and other sources
Discovery
GEN374C002
intron_variant
rs13193457
c.-471-28343C>A;c.46-28343C>A;c.-329-28343C>A
AGRE
Discovery
GEN374C003
intron_variant
rs2237126
c.155-6435C>T;c.671-6435C>T;c.557-6435C>T;c.860-6435C>T;c.716-6435C>T;c.263-6435C>T
77 informative Japanese ASD families
Discovery
6
Deletion-Duplication
27
No Interactions Available
