Hs04058087_cn

• Gene Symbol: PTK6
• Assay Reference Genome Location: Chr.20:63536511 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 5753
• Gene Name: protein tyrosine kinase 6
• Gene Aliases: BRK
• Location: Chr.20:63528413-63537370 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTK6	NM_001256358.1			NP_001243287.1
	NM_005975.3			NP_005966.1
	XM_017027982.1			XP_016883471.1
	AK301364.1
	AK301691.1
	AK315232.1
	BC035843.1			AAH35843.1
	DA762278.1
	X78549.1			CAA55295.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	BIRC7 YTHDF1 FLJ16779 LOC100130152 HELZ2 ARFGAP1 MIR4326 PTK6 KCNQ2 LOC100130587 PPDPF MIR3196 SRMS CHRNA4 LOC107985425 MIR124-3 FNDC11 NKAIN4 EEF1A2 LOC102723788 COL20A1
nsv586573	Chr.20:63535645 - 63560584 on Build GRCh38	Loss	HELZ2 FNDC11 PTK6 SRMS
nsv521734	Chr.20:63522433 - 63566995 on Build GRCh38	Loss	HELZ2 FNDC11 PTK6 SRMS
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	YTHDF1 FLJ16779 LOC100130152 HELZ2 ARFGAP1 OGFR KCNQ2 LINC00029 SLC17A9 PPDPF DIDO1 SRMS CHRNA4 LOC107985425 LINC01056 MIR124-3 HAR1A BIRC7 GMEB2 BHLHE23 LINC00659 MIR4326 HAR1B PTK6 LOC100130587 COL9A3 MIR3196 DPH3P1 OGFR-AS1 FNDC11 LOC63930 MRGBP GID8 NKAIN4 EEF1A2 LOC102723788 COL20A1 LOC107985428 TCFL5
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	GMEB2 ARFRP1 HELZ2 ZGPAT PTK6 LOC100505771 LIME1 PPDPF RTEL1 SRMS TNFRSF6B ZBTB46 RTEL1-TNFRSF6B SLC2A4RG FNDC11 EEF1A2 STMN3
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	FNDC11 PTK6 KCNQ2 PPDPF EEF1A2 SRMS
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	GMEB2 HELZ2 FNDC11 PTK6 KCNQ2 PPDPF EEF1A2 SRMS
nsv586569	Chr.20:63496168 - 63548764 on Build GRCh38	Loss	PTK6 PPDPF EEF1A2 SRMS
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	GMEB2 ARFRP1 HELZ2 ZGPAT PTK6 LOC100505771 KCNQ2 LIME1 PPDPF RTEL1 SRMS TNFRSF6B ZBTB46 RTEL1-TNFRSF6B SLC2A4RG FNDC11 EEF1A2 STMN3

More Information

Additional Information:

For this assay, SNP(s) [rs74620740] 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

Panther Classification:

Molecular Function -

protein-binding activity modulator, scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein phosphorylation
transmembrane receptor protein tyrosine kinase signaling pathway
negative regulation of signal transduction
positive regulation of neuron projection development
cell migration
peptidyl-tyrosine autophosphorylation
ERBB2 signaling pathway
regulation of cell proliferation
tyrosine phosphorylation of Stat3 protein
tyrosine phosphorylation of Stat5 protein
positive regulation of tyrosine phosphorylation of Stat3 protein
innate immune response
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of cell cycle
negative regulation of growth
protein autophosphorylation
intestinal epithelial cell differentiation
negative regulation of protein tyrosine kinase activity
cellular response to retinoic acid

Function(s)

protein tyrosine kinase activity
non-membrane spanning protein tyrosine kinase activity
receptor binding
protein binding
ATP binding
identical protein binding