EMSYEMSY, BRCA2 interacting transcriptional repressor
Autism Reports / Total Reports
5 / 5Rare Variants / Common Variants
14 / 0Aliases
EMSY, C11orf30, GL002Associated Syndromes
-Chromosome Band
11q13.5Associated 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.
External Links
SFARI Genomic Platforms
Reports related to EMSY (5 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 | - |
| 4 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
| 5 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (14)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.3125C>G | p.Ala1042Gly | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.1409-1G>C | - | splice_site_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
| c.1853T>A | p.Leu618Ter | stop_gained | De novo | - | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
| c.1062del | p.Ser354ArgfsTer14 | frameshift_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
| c.765G>C | p.Lys255Asn | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
| c.2764A>G | p.Ser922Gly | 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.3131A>G | p.Asp1044Gly | missense_variant | Unknown | - | Unknown | 25363760 | De Rubeis S , et al. (2014) | |
| c.1409-1G>C | - | splice_site_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) | |
| c.503C>G | p.Pro168Arg | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
| c.503C>G | p.Pro168Arg | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
| c.583G>A | p.Val195Ile | missense_variant | Familial | Paternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
| c.1123C>T | p.Pro375Ser | missense_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) | |
| c.94dup | p.Ile32AsnfsTer26 | frameshift_variant | Familial | Maternal | Simplex | 25363760 | De Rubeis S , et al. (2014) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
Single-gene expression analysis of brain cortical tissue samples from 47 ASD cases and 57 controls identified EMSY (formerly know 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).
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
10/1/2019
Decreased from 3 to 2
New Scoring Scheme
Description
Single-gene expression analysis of brain cortical tissue samples from 47 ASD cases and 57 controls identified EMSY (formerly know 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).
Reports Added
[New Scoring Scheme]7/1/2019
Decreased from 3 to 3
Description
Single-gene expression analysis of brain cortical tissue samples from 47 ASD cases and 57 controls identified EMSY (formerly know 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).
7/1/2018
Increased from to 3
Description
Single-gene expression analysis of brain cortical tissue samples from 47 ASD cases and 57 controls identified EMSY (formerly know 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).