EMSY
Homo sapiens
Gene Name: EMSY, BRCA2 interacting transcriptional repressor
Aliases: C11orf30, GL002
Chromosome No: 11
Chromosome Band: 11q13.5
Genetic Category: Rare single gene variant-Functional-
Aliases: C11orf30, GL002
Chromosome No: 11
Chromosome Band: 11q13.5
Genetic Category: Rare single gene variant-Functional-
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 3
Evidence score: 3
ASD Reports: 5
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 3
Evidence score: 3
Associated Disorders: |
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Relevance to Autism
Single-gene expression analysis of brain cortical tissue samples from 47 ASD cases and 57 controls identified EMSY (formerly known as C11orf30) as a gene showing transcriptome-wide significant differential gene expression (0.6-fold decrease) between autism and control brains (P=3.29E-07; threshold for transcriptome-wide significance set at P<4.76E-07) (Gupta et al., 2014). A de novo LoF variant in this gene was also identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014).
Molecular Function
Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN669R002
frameshift_variant
c.94dup
p.Ile32AsnfsTer26
Familial
Maternal
Simplex
GEN669R003
missense_variant
c.583G>A
p.Val195Ile
Familial
Paternal
Simplex
GEN669R004
missense_variant
c.503C>G
p.Pro168Arg
Familial
Maternal
Simplex
GEN669R005
missense_variant
c.503C>G
p.Pro168Arg
Familial
Paternal
Simplex
GEN669R006
missense_variant
c.1123C>T
p.Pro375Ser
Familial
Maternal
Simplex
Common
No Common Variants Available