Human Gene Module / Chromosome 11 / EMSY

EMSYEMSY, BRCA2 interacting transcriptional repressor

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
10 / 0
Aliases
EMSY, C11orf30,  GL002
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Functional
Chromosome Band
11q13.5
Associated Disorders
-
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.

Reports related to EMSY (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
2 Primary Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Gupta S , et al. (2014) Yes -
3 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
Rare Variants   (10)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1364-1G>C - splice_site_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.1808T>A p.Leu603Ter stop_gained De novo - Simplex 25363760 De Rubeis S , et al. (2014)
ins(A) - frameshift_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.535A>G p.Ser179Gly missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.765G>C p.Lys255Asn missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3022C>A p.Gln1008Lys missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.3086A>G p.Asp1029Gly missense_variant Unknown - Unknown 25363760 De Rubeis S , et al. (2014)
c.583G>A p.Gly195Ser missense_variant Familial Paternal Simplex 25363760 De Rubeis S , et al. (2014)
c.928C>T p.Pro310Ser missense_variant Familial Maternal Simplex 25363760 De Rubeis S , et al. (2014)
c.503C>G p.Ala168Gly missense_variant Familial Maternal (n=1), paternal (n=1) Simplex 25363760 De Rubeis S , et al. (2014)
Common Variants  

No common variants reported.

SFARI Gene score
3

Suggestive Evidence

3

3

Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.

4/1/2018
4.5 + acc1

Initial score established: 4.5 + acc1

Description

3

CNVs associated with EMSY(1 CNVs)
11q13.5 7 Duplication 14  /  11
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