Human Gene Module / Chromosome 3 / KAT2B

KAT2BK(lysine) acetyltransferase 2B 

Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
5 / 5
Rare Variants / Common Variants
6 / 0
Aliases
KAT2B, CAF,  P/CAF,  PCAF
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
3p24.3
Associated Disorders
-
Relevance to Autism

This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.

Molecular Function

The protein encoded by this gene functions as a histone acetyltransferase (HAT) to promote transcriptional activation and acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators.

Reports related to KAT2B (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014) Yes -
2 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , 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 Primary Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Sanders SJ , et al. (2015) Yes -
5 Support De novo genic mutations among a Chinese autism spectrum disorder cohort. Wang T , et al. (2016) Yes -
Rare Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss De novo - Multiplex 24768552 Pinto D , et al. (2014)
G>A - splice_site_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.1385C>T p.Thr462Met missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.1369G>T p.Val457Phe missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.1369G>T p.Val457Phe missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.1657C>T p.Arg553Cys missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). This gene was subsequently identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.

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.

04-01-2017
2

Initial score established: 2

Description

This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). This gene was subsequently identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.

CNVs associated with KAT2B(1 CNVs)
3p24.3 14 Deletion-Duplication 24  /  118
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
MAGEA10 Melanoma-associated antigen 10 Human Protein Binding 4109 P43363
Sgf29 SAGA complex associated factor 29 Mouse Protein Binding 75565 Q9DA08
TAF12 TATA-box binding protein associated factor 12 Human Protein Binding 6883 Q16514
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