EMSYEMSY, BRCA2 interacting transcriptional repressor
Autism Reports / Total Reports3 / 3
Rare Variants / Common Variants10 / 0
AliasesEMSY, C11orf30, GL002
Genetic CategoryRare Single Gene Mutation, Functional
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).
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)|
No common variants reported.
SFARI Gene score
criteria metSee SFARI Gene'scoring criteria
Suggestive EvidenceSee 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.
Initial score established: 4.5 + acc1
CNVs associated with EMSY(1 CNVs)
|11q13.5||7||Duplication||14 / 11|