Hs03810122_cn

• Gene Symbol: RAPGEF3
• Assay Reference Genome Location: Chr.12:47735147 on build GRCh38
• Cytoband: 12q13.11

Target Gene Details

• Entrez Gene ID: 10411
• Gene Name: Rap guanine nucleotide exchange factor 3
• Gene Aliases: CAMP-GEFI, EPAC, EPAC1, HSU79275, bcm910
• Location: Chr.12:47734670-47759106 on Build GRCh38
• Assay Gene Location: Within Exon 28

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAPGEF3	NM_001098531.2	28	5742	NP_001092001.1
	NM_001098532.2	27	5506	NP_001092002.1
	NM_006105.5	28	5276	NP_006096.2
	U79275.1	1	563	AAB50216.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv696	Chr.12:47720180 - 47754753 on Build GRCh38	Insertion	SLC48A1 ENDOU RAPGEF3 LOC105369748
nsv470289	Chr.12:47716768 - 47786725 on Build GRCh38	Gain	SLC48A1 ENDOU RAPGEF3 HDAC7 LOC105369748
dgv94n21	Chr.12:47725779 - 47821397 on Build GRCh38	Loss	SLC48A1 RAPGEF3 HDAC7 LOC105369748

More Information

Additional Information:

For this assay, SNP(s) [rs73302664] 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 -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

angiogenesis
signal transduction
brain development
cell proliferation
negative regulation of cardiac muscle cell apoptotic process
positive regulation of smooth muscle cell migration
cAMP-mediated signaling
spinal cord development
positive regulation of cAMP catabolic process
Rap protein signal transduction
negative regulation of collagen biosynthetic process
positive regulation of peptidyl-serine phosphorylation
negative regulation of syncytium formation by plasma membrane fusion
response to nicotine
cellular response to drug
positive regulation of GTPase activity
positive regulation of angiogenesis
positive regulation of cell size
positive regulation of transcription from RNA polymerase II promoter
positive regulation of protein export from nucleus
regulation of insulin secretion
positive regulation of stress fiber assembly
positive regulation of syncytium formation by plasma membrane fusion
artery development
establishment of endothelial barrier
cellular response to cAMP
cellular response to transforming growth factor beta stimulus
liver regeneration
positive regulation of protein acetylation
positive regulation of GTP binding
positive regulation of calcium ion transmembrane transport
positive regulation of hydrogen:potassium-exchanging ATPase activity
cellular response to L-dopa
dorsal root ganglion development
regulation of actin cytoskeleton reorganization
positive regulation of actin cytoskeleton reorganization
regulation of histone H3-K9 acetylation

Function(s)

guanyl-nucleotide exchange factor activity
protein binding
Rap guanyl-nucleotide exchange factor activity
protein domain specific binding
cAMP binding
ion channel binding