AutismKB

Evidence Detail for CREBBP


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Basic Information Top
Gene Symbol:CREBBP ( CBP,KAT3A,RSTS )
Gene Full Name: CREB binding protein
Band: 16p13.3
Quick LinksEntrez ID:1387; OMIM: 600140; Uniprot ID:CBP_HUMAN; ENSEMBL ID: ENSG00000005339
Sequences Top
>CREBBP|1387|nucleotide
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>CREBBP|1387|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (2) 1 (2) 2 (2) 0 (1) 9 (5)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMRubinstein-Taybi syndrome (180849)
DescriptionRubinstein-Taybi syndrome (ID, characteristic facial features, broad thumbs and great toes). Mutations in EP300 can also cause Rubinstein-Taybi syndrome (in 3%) but have not been reported in ASD
Reference(s)18792986; 19350377;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Barnby, 2005_1 human bloodASD genetics: mutation screen
  • Subjects: 48
  • Normal Controls: 190
  • Methods: -
  • Evidence Details: no missense variants were detected during mutation screening of the coding sequence, and 19 noncoding/silent variants were found.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000718 16 16p13.3 gain 1 - CNVs Only Present In Patients; Bremer, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004
AutLD0000138 16p13.3 16 D16S748 - - 0.00117 Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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