Hs02732911_cn

• Gene Symbol: PPP1R9A
• Assay Reference Genome Location: Chr.7:94907721 on build GRCh38
• Cytoband: 7q21.3

Target Gene Details

• Entrez Gene ID: 55607
• Gene Name: protein phosphatase 1 regulatory subunit 9A
• Gene Aliases: NRB1, NRBI, Neurabin-I
• Location: Chr.7:94907202-95296415 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPP1R9A	NM_001166160.1			NP_001159632.1
	NM_017650.2			NP_060120.2
	XM_011516381.1			XP_011514683.1
	XM_011516383.1			XP_011514685.1
	XM_011516389.1			XP_011514691.1
	XM_017012394.1			XP_016867883.1
	XM_017012395.1			XP_016867884.1
	XM_017012397.1			XP_016867886.1
	XM_017012399.1			XP_016867888.1
	XM_017012400.1			XP_016867889.1
	XM_017012401.1			XP_016867890.1
	XM_017012402.1			XP_016867891.1
	XM_017012403.1			XP_016867892.1
	XM_017012404.1			XP_016867893.1
	XM_017012407.1			XP_016867896.1
	XM_017012409.1			XP_016867898.1
	XM_017012410.1			XP_016867899.1
	AK096514.1
	DA497168.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422248	Chr.7:94543833 - 94955318 on Build GRCh38	Duplication	PPP1R9A PEG10 SGCE CASD1
nsv1023193	Chr.7:93602376 - 95828660 on Build GRCh38	Gain	MIR4652 LOC105375405 SGCE PON1 PON3 CASD1 PDK4 COL1A2 BET1 PPP1R9A GNG11 TFPI2 PON2 PEG10 GNGT1 ASB4 LOC105375401 DYNC1I1
nsv831063	Chr.7:94742146 - 94914116 on Build GRCh38	Gain	PPP1R9A
nsv464643	Chr.7:94709551 - 94942020 on Build GRCh38	Gain	PPP1R9A

More Information

Additional Information:

For this assay, SNP(s) [rs142221536] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

actin filament organization
aging
calcium-mediated signaling
regulation of actin filament polymerization
neuron projection development
positive regulation of protein kinase activity
regulation of filopodium assembly
negative regulation of stress fiber assembly
regulation of synapse structural plasticity
regulation of synapse assembly
excitatory postsynaptic potential
positive regulation of dendritic spine development
regulation of dendritic spine morphogenesis
cellular response to toxic substance
negative regulation of long-term synaptic potentiation
positive regulation of long term synaptic depression
negative regulation of spontaneous neurotransmitter secretion

Function(s)

protein binding
protein C-terminus binding
protein phosphatase 1 binding
protein kinase binding
protein domain specific binding
protein homodimerization activity
ion channel binding
actin filament binding
GTPase binding