Human Gene Module / Chromosome 22 / CECR2

CECR2CECR2, histone acetyl-lysine reader

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
8 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
22q11.1-q11.21
Associated Disorders
-
Relevance to Autism

A deletion disurpting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012).

Molecular Function

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to CECR2 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary A discovery resource of rare copy number variations in individuals with autism spectrum disorder Prasad A , et al. (2013) Yes -
2 Support Synaptic, transcriptional and chromatin genes disrupted in autism De Rubeis S , et al. (2014) Yes -
3 Support - Zhou X et al. (2022) Yes -
Rare Variants   (8)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.619+16G>A - intron_variant De novo - - 35982159 Zhou X et al. (2022)
- - copy_number_loss Unknown - Unknown 23275889 Prasad A , et al. (2013)
c.1610C>T p.Ser537Phe missense_variant De novo - - 35982159 Zhou X et al. (2022)
- - copy_number_loss Unknown Not maternal Simplex 23275889 Prasad A , et al. (2013)
c.1007-24G>C - intron_variant De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.990T>A p.Tyr330Ter stop_gained De novo - Simplex 25363760 De Rubeis S , et al. (2014)
c.3116A>G p.Tyr1039Cys missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.2835G>A p.Thr945%3D synonymous_variant De novo - Simplex 35982159 Zhou X et al. (2022)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

A deletion disrupting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012). A de novo nonsense variant in this gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014.

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We 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.

4/1/2022
3
icon
2

Decreased from 3 to 2

Description

A deletion disrupting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012). A de novo nonsense variant in this gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014.

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

A deletion disrupting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012). A de novo nonsense variant in this gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014.

Reports Added
[New Scoring Scheme]
7/1/2018
icon
4

Increased from to 4

Description

A deletion disrupting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012). A de novo nonsense variant in this gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014.

Krishnan Probability Score

Score 0.45772024262777

Ranking 9736/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
Sanders TADA Score

Score 0.5211230747353

Ranking 495/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Zhang D Score

Score -0.20677324285792

Ranking 15571/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Original Source
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