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Relevance to Autism

A rare mutation in the EP300 gene has been identified in a patient with ASD (Vaags et al., 2012).

Molecular Function

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as a histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Support
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
Rubinstein-Taybi syndrome-2
ID, ASD
Support
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
Rubinstein-Taybi syndrome-2
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Microcephaly, growth retardation
Support
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
DD, ID, ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Congenital heart disease (CHD)
Neurodevelopmental disorders (NDD)
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Rubinstein-Taybi syndrome-2
Support
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
Rubinstein-Taybi syndrome-2
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
ID
Support
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
Rubinstein-Taybi syndrome-2
Support
Identification of Intellectual Disability Genes in Female Patients with A Skewed X Inactivation Pattern.
DD
Highly Cited
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Rubinstein-Taybi syndrome-2
Recent Recommendation
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Rubinstein-Taybi syndrome-2
ID, ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN308R001 
 missense_variant 
 c.631G>A 
 p.Gly211Ser 
 Familial 
 Paternal 
 Simplex 
 GEN308R002 
 frameshift_variant 
 insT 
  
 De novo 
  
  
 GEN308R003 
 frameshift_variant 
 c.3659_3661delCCCinsCC 
 p.Gln1221SerfsTer6 
 De novo 
  
 Simplex 
 GEN308R004 
 stop_gained 
 c.5581C>T 
 p.Gln1861Ter 
 De novo 
  
 Simplex 
 GEN308R005 
 frameshift_variant 
 c.4912dupC 
 p.His1638ProfsTer35 
 De novo 
  
 Simplex 
 GEN308R006 
 splice_site_variant 
 G>A 
  
 De novo 
  
  
 GEN308R007 
 frameshift_variant 
 TCAGAGAGCAGC/TC 
  
 De novo 
  
  
 GEN308R008 
 missense_variant 
 c.4879C>T 
 p.Arg1627Trp 
 De novo 
  
 Simplex 
 GEN308R009 
 frameshift_variant 
 c.4783_4784delTT 
 p.Phe1595fs 
 De novo 
  
  
 GEN308R010 
 missense_variant 
 c.5824A>T 
 p.Met1942Leu 
 Familial 
 Paternal 
 Multi-generational 
 GEN308R011 
 inframe_deletion 
 c.6567_6578del 
 p.2189_2193del 
 Unknown 
  
  
 GEN308R012 
 frameshift_variant 
 c.3661delC 
 p.Gln1221SerfsTer6 
 De novo 
  
  
 GEN308R013 
 frameshift_variant 
 c.659_662delCTGA 
 p.Thr220SerfsTer16 
 De novo 
  
 Simplex 
 GEN308R014 
 frameshift_variant 
 c.104_107delCTCT 
 p.Ser35TyrfsTer12 
 De novo 
  
  
 GEN308R015 
 stop_gained 
 c.1833T>G 
 p.Tyr611Ter 
 De novo 
  
  
 GEN308R016 
 missense_variant 
 c.4783T>G 
 p.Phe1595Val 
 De novo 
  
  
 GEN308R017 
 missense_variant 
 c.5471A>C 
 p.Gln1824Pro 
 De novo 
  
  
 GEN308R018 
 frameshift_variant 
 c.5873delC 
 p.Pro1958ArgfsTer2 
 De novo 
  
  
 GEN308R019 
 stop_gained 
 c.4066C>T 
 p.Arg1356Ter 
 De novo 
  
  
 GEN308R020 
 missense_variant 
 c.3857A>G 
 p.Asn1286Ser 
 De novo 
  
  
 GEN308R021 
 stop_gained 
 c.1876C>T 
 p.Arg626Ter 
 De novo 
  
  
 GEN308R022 
 frameshift_variant 
 delC 
 p.Arg1305fs 
 De novo 
  
  
 GEN308R023 
 inframe_deletion 
 c.5492_5494del 
 p.Arg1831del 
 De novo 
  
  
 GEN308R024 
 frameshift_variant 
 c.4954_4957dupATGT 
 p.Cys1653TyrfsTer21 
 De novo 
  
  
 GEN308R025 
 splice_site_variant 
 c.3728+5G>C 
 p.? 
 De novo 
  
  
 GEN308R026 
 stop_gained 
 c.3163C>T 
 p.Arg1055Ter 
 Unknown 
  
  
 GEN308R027 
 inframe_deletion 
 c.6627_6638del 
 p.Asn2209_Gln2213delinsLys 
 De novo 
  
  
 GEN308R028 
 frameshift_variant 
 c.7222_7223delCA 
 p.Gln2408GlufsTer39 
 Familial 
 Maternal 
 Multi-generational 
 GEN308R029 
 missense_variant 
 c.4511T>G 
 p.Phe1504Cys 
 De novo 
  
  
 GEN308R030 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN308R031 
 frameshift_variant 
 c.70_71delTC 
 p.Ser24GlyfsTer14 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 15
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C3ORF62 chromosome 3 open reading frame 62 375341 Q6ZUJ4 IP; LC-MS/MS
Huttlin EL , et al. 2015
CCNA2 cyclin A2 890 P20248 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDC20 cell division cycle 20 991 Q12834 IP; LC-MS/MS
Huttlin EL , et al. 2015
CDK2 cyclin-dependent kinase 2 1017 P24941 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CTGF Connective tissue growth factor 1490 P29279 IP; LC-MS/MS
Huttlin EL , et al. 2015
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 IP/WB
Kennell JA , et al. 2003
EP400 E1A binding protein p400 57634 Q96L91 IP/WB
Fuchs M , et al. 2001
GRIP1 glutamate receptor interacting protein 1 74053 Q925T6 IP/WB
Lee YH , et al. 2002
HSPA8 heat shock 70kDa protein 8 3312 P11142 IP; LC-MS/MS
Huttlin EL , et al. 2015
PTEN phosphatase and tensin homolog 5728 F6KD01 IP/WB
Li AG , et al. 2006
SPATA1 spermatogenesis associated 1 NM_001081472 Q5VX52 IP; LC-MS/MS
Huttlin EL , et al. 2015
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced 6778 P42226 IP/WB
Xiao X , et al. 2015
TCF7L2 Trinucleotide repeat-containing gene 6B protein 213988 Q8BKI2 Luciferase reporter assay
Kennell JA , et al. 2003
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
CHD7 chromodomain helicase DNA binding protein 7 320790 A2AJK6 ChIP; IP/WB
Schnetz MP , et al. 2010

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