Evidence Detail for CREBBP

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Basic Information Top
Gene Full Name: CREB binding protein
Band: 16p13.3
Quick LinksEntrez ID:1387; OMIM: 600140; Uniprot ID:CBP_HUMAN; ENSEMBL ID: ENSG00000005339
Sequences Top
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Evidence Statistic Top

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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.
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
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
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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