Hs00753423_cn

• Gene Symbol: CREBBP
• Assay Reference Genome Location: Chr.16:3729419 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 1387
• Gene Name: CREB binding protein
• Gene Aliases: CBP, KAT3A, RSTS
• Location: Chr.16:3725054-3880727 on Build GRCh38
• Assay Gene Location: Within Exon 33

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CREBBP	NM_001079846.1	30	5718	NP_001073315.1
	NM_004380.2	31	5832	NP_004371.2
	XM_005255124.4	30	6394	XP_005255181.1
	XM_005255125.4	30	6022	XP_005255182.1
	XM_006720848.3	29	6178	XP_006720911.1
	XM_011522381.2	30	5321	XP_011520683.1
	XM_017022944.1	31	6433	XP_016878433.1
	AB210043.1	30	5718
	U47741.1	32	5826	AAC51770.1
	U85962.3	31	6446	AAC51331.2
	U89355.1	5	1099	AAC51340.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1051657	Chr.16:3644759 - 3788297 on Build GRCh38	Gain	CREBBP TRAP1 DNASE1

More Information

Additional Information:

For this assay, SNP(s) [rs115594471] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

histone modifying enzyme

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
response to hypoxia
stimulatory C-type lectin receptor signaling pathway
regulation of transcription, DNA-templated
transcription initiation from RNA polymerase II promoter
protein complex assembly
protein acetylation
signal transduction
Notch signaling pathway
cell proliferation
regulation of smoothened signaling pathway
viral process
histone acetylation
N-terminal peptidyl-lysine acetylation
positive regulation of type I interferon production
cellular response to UV
homeostatic process
embryonic digit morphogenesis
regulation of apoptotic process
cellular lipid metabolic process
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
rhythmic process
positive regulation of cell adhesion molecule production
regulation of transcription from RNA polymerase II promoter in response to hypoxia
response to interleukin-1
cell-cell adhesion
regulation of cellular response to heat
positive regulation of G1/S transition of mitotic cell cycle
positive regulation of NIK/NF-kappaB signaling
beta-catenin-TCF complex assembly

Function(s)

core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II transcription factor binding
RNA polymerase II activating transcription factor binding
RNA polymerase II transcription coactivator activity
transcriptional repressor activity, RNA polymerase II transcription factor binding
p53 binding
chromatin binding
damaged DNA binding
transcription factor activity, sequence-specific DNA binding
transcription coactivator activity
histone acetyltransferase activity
signal transducer activity
protein binding
transcription factor binding
zinc ion binding
acetyltransferase activity
peptide N-acetyltransferase activity
peroxisome proliferator activated receptor binding
MRF binding
SMAD binding