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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.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
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
 GEN764R001 
 splice_site_variant 
 c.1151-1G>A 
  
 De novo 
 NA 
 Simplex 
 GEN764R002 
 copy_number_loss 
  
  
 De novo 
 NA 
 Multiplex 
 GEN764R003 
 missense_variant 
 c.1385C>T 
 p.Thr462Met 
 Familial 
 Maternal 
  
 GEN764R004 
 missense_variant 
 c.1369G>T 
 p.Val457Phe 
 Familial 
 Paternal 
  
 GEN764R005 
 missense_variant 
 c.1369G>T 
 p.Val457Phe 
 Familial 
 Paternal 
  
 GEN764R006 
 missense_variant 
 c.1657C>T 
 p.Arg553Cys 
 Familial 
 Paternal 
  
 GEN764R007 
 missense_variant 
 c.871G>A 
 p.Val291Met 
 Familial 
 Paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 16
 
3
Deletion-Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ATXN7L3 ataxin 7-like 3 56970 Q14CW9 IP; LC-MS/MS
Huttlin EL , et al. 2015
BRCA2 breast cancer 2, early onset 675 P51587 GST; IP/WB
Fuks F , et al. 1998
CCDC101 coiled-coil domain containing 101 112869 Q96ES7 IP; LC-MS/MS
Huttlin EL , et al. 2015
IKZF5 IKAROS family zinc finger 5 (Pegasus) 64376 Q9H5V7 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAGEA10 Melanoma-associated antigen 10 4109 P43363 IP; LC-MS/MS
Huttlin EL , et al. 2015
MBIP MAP3K12 binding inhibitory protein 1 51562 Q9NS73 IP; LC-MS/MS
Huttlin EL , et al. 2015
SATB2 SATB homeobox 2 23314 Q9UPW6 IP/WB
Zhou LQ , et al. 2012
SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) 8464 O75486 IP; LC-MS/MS
Ogryzko VV , et al. 1998
TADA1 transcriptional adaptor 1 117143 Q96BN2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TADA2A transcriptional adaptor 2A 6871 O75478 IP; LC-MS/MS
Ogryzko VV , et al. 1998
TADA3 transcriptional adaptor 3 10474 O75528 IP; LC-MS/MS
Huttlin EL , et al. 2015
TADA3 transcriptional adaptor 3 10474 O75528 IP; LC-MS/MS
Ogryzko VV , et al. 1998
TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa 6881 Q12962 IP; LC-MS/MS; IP/WB
Ogryzko VV , et al. 1998
TAF12 TATA-box binding protein associated factor 12 6883 Q16514 IP; LC-MS/MS; IP/WB
Ogryzko VV , et al. 1998
TAF5L TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 27097 O75529 IP; LC-MS/MS
Ogryzko VV , et al. 1998
TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 10629 Q9Y6J9 IP; LC-MS/MS
Huttlin EL , et al. 2015
TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 10629 Q9Y6J9 IP; LC-MS/MS
Ogryzko VV , et al. 1998
TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa 6880 Q16594 IP; LC-MS/MS; IP/WB
Ogryzko VV , et al. 1998
WDR5 WD repeat domain 5 609012 N/A IP; LC-MS/MS
Huttlin EL , et al. 2015
Csrp2bp cysteine and glycine-rich protein 2 binding protein 228714 Q8CID0 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Dr1 down-regulator of transcription 1 13486 Q91WV0 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Mbip MAP3K12 binding inhibitory protein 1 217588 Q99LQ1 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Sgf29 SAGA complex associated factor 29 75565 Q9DA08 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Tada2a transcriptional adaptor 2A 217031 Q8CHV6 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Tada3 transcriptional adaptor 3 101206 Q8R0L9 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Wdr5 WD repeat-containing protein 5 140858 P61965 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Yeats2 YEATS domain containing 2 208146 Q3TUF7 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010
Zzz3 zinc finger, ZZ domain containing 3 108946 Q6KAQ7 IP; LC-MS/MS; IP/WB
Krebs AR , et al. 2010

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