Hs05354367_cn

• Gene Symbol: PAK6
• Assay Reference Genome Location: Chr.15:40255189 on build GRCh38
• Cytoband: 15q15.1

Target Gene Details

• Entrez Gene ID: 56924
• Gene Name: p21 (RAC1) activated kinase 6
• Gene Aliases: PAK5
• Location: Chr.15:40239091-40277487 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAK6	NM_001276717.1			NP_001263646.1
	NM_001276718.1			NP_001263647.1
	NM_020168.5			NP_064553.1
	AF276893.1			AAF82800.1
	AJ236915.1			CAC18720.1
	AK131522.1
	BC035596.1			AAH35596.1
	DA191028.1
	DA229537.1
	HY128655.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471240	Chr.15:40235954 - 40303426 on Build GRCh38	Loss	C15orf56 PLCB2 BUB1B-PAK6 PAK6 ANKRD63
esv3581650	Chr.15:40254799 - 40256959 on Build GRCh38	Loss	BUB1B-PAK6 PAK6
nsv952611	Chr.15:40237800 - 40284699 on Build GRCh38	Deletion	C15orf56 BUB1B-PAK6 PAK6 ANKRD63

More Information

Additional Information:

For this assay, SNP(s) [rs199769392] 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)

mitotic cell cycle
regulation of transcription, DNA-templated
apoptotic process
cytoskeleton organization
signal transduction by protein phosphorylation
cell-cell adhesion

Function(s)

receptor signaling protein serine/threonine kinase activity
protein binding
ATP binding
cadherin binding involved in cell-cell adhesion