Hs04450782_cn

• Gene Symbol: AKAP13
• Assay Reference Genome Location: Chr.15:85405404 on build GRCh38
• Cytoband: 15q25.3

Target Gene Details

• Entrez Gene ID: 11214
• Gene Name: A-kinase anchoring protein 13
• Gene Aliases: AKAP-13, AKAP-Lbc, ARHGEF13, BRX, HA-3, Ht31, LBC, PRKA13, PROTO-LB, PROTO-LBC, c-lbc, p47
• Location: Chr.15:85380616-85749358 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AKAP13	NM_006738.5			NP_006729.4
	NM_007200.4			NP_009131.2
	AB055890.1			BAB62913.1
	AF406992.1			AAL11723.1
	AK125331.1
	BC050312.1			AAH50312.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4692n54	Chr.15:85235254 - 85600273 on Build GRCh38	Gain	GOLGA6L3 MIR7706 AKAP13
esv2761699	Chr.15:85236347 - 85569198 on Build GRCh38	Gain	GOLGA6L3 MIR7706 AKAP13
esv3637111	Chr.15:85291627 - 85464874 on Build GRCh38	Gain	MIR7706 AKAP13
dgv323n27	Chr.15:85282336 - 85600273 on Build GRCh38	Gain	MIR7706 AKAP13
dgv2647n100	Chr.15:85268380 - 85470404 on Build GRCh38	Gain	MIR7706 AKAP13
esv3637112	Chr.15:85384885 - 85468079 on Build GRCh38	Gain	AKAP13
nsv518064	Chr.15:85178426 - 85605928 on Build GRCh38	Gain	GOLGA6L3 LOC642423 MIR7706 LOC101929479 AKAP13
dgv754e212	Chr.15:85181918 - 85597222 on Build GRCh38	Gain	GOLGA6L3 LOC642423 MIR7706 LOC101929479 AKAP13
dgv4694n54	Chr.15:85344022 - 85600273 on Build GRCh38	Gain	MIR7706 AKAP13
nsv570298	Chr.15:85272357 - 85510128 on Build GRCh38	Gain	MIR7706 AKAP13
nsv428311	Chr.15:85107707 - 85486274 on Build GRCh38	Gain	GOLGA6L3 LOC642423 PDE8A MIR7706 LOC101929479 AKAP13

More Information

Additional Information:

For this assay, SNP(s) [rs72752596] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

protein phosphorylation
G-protein coupled receptor signaling pathway
heart development
regulation of cardiac muscle hypertrophy
positive regulation of Rho protein signal transduction
intracellular signal transduction
positive regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
positive regulation of GTPase activity
regulation of protein kinase activity
regulation of small GTPase mediated signal transduction
nuclear export
cardiac muscle cell differentiation
regulation of sarcomere organization
bone development
adrenergic receptor signaling pathway
adrenergic receptor signaling pathway involved in heart process
regulation of glucocorticoid mediated signaling pathway

Function(s)

cAMP-dependent protein kinase activity
signal transducer activity
MAP-kinase scaffold activity
guanyl-nucleotide exchange factor activity
Rho guanyl-nucleotide exchange factor activity
protein binding
Rho GTPase binding
protein complex scaffold
metal ion binding
protein kinase A binding