Hs01310221_cn

• Gene Symbol: RAPGEF3
• Assay Reference Genome Location: Chr.12:47757962 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAPGEF3	NM_001098531.2	2	673	NP_001092001.1
	NM_001098532.2	1	437	NP_001092002.1
	NM_006105.5	2	207	NP_006096.2
	XM_005268571.3	1	217	XP_005268628.1
	XM_011537752.1	2	645	XP_011536054.1
	XM_011537755.1	2	207	XP_011536057.1
	XM_011537758.2	2	325	XP_011536060.1
	XM_017018688.1	2	645	XP_016874177.1
	AF103905.1			AAC83381.1
	AK092448.1	2	645
	AK125545.1	2	143
	AK290230.1	3	338
	AK299029.1	2	301
	AK308079.1	2	275
	BC017728.1	2	287
	BC092404.1	2	276
	DA340363.1	2	469
	DA529158.1
	DA629958.1	2	207
	DB179165.1	1	222
	DB278856.1	1	437
	U78168.1	2	212	AAD12740.1
	U78169.1	2	212	AAD02890.1

Target Gene Details

• Entrez Gene ID: 55652
• Gene Name: solute carrier family 48 member 1
• Gene Aliases: HRG-1, HRG1, hHRG-1
• Location: Chr.12:47753605-47782753 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC48A1	XM_011538558.2			XP_011536860.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470289	Chr.12:47716768 - 47786725 on Build GRCh38	Gain	LOC105369748 ENDOU RAPGEF3 SLC48A1 HDAC7
dgv94n21	Chr.12:47725779 - 47821397 on Build GRCh38	Loss	LOC105369748 RAPGEF3 SLC48A1 HDAC7
nsv518315	Chr.12:47755969 - 47759212 on Build GRCh38	Loss	RAPGEF3 SLC48A1

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor, transporter

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
heme transport

Function(s)

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