Hs01168128_cn

• Gene Symbol: PTK6
• Assay Reference Genome Location: Chr.20:63534239 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTK6	NM_001256358.1	2	363	NP_001243287.1
	NM_005975.3	3	485	NP_005966.1
	XM_017027982.1	3	485	XP_016883471.1
	AK301364.1	2	363
	AK301691.1
	AK315232.1	3	467
	BC035843.1	3	469	AAH35843.1
	DA762278.1	3	485
	X78549.1	3	457	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	CHRNA4 FLJ16779 FNDC11 PTK6 HELZ2 COL20A1 PPDPF LOC102723788 MIR3196 LOC100130587 MIR4326 YTHDF1 NKAIN4 ARFGAP1 LOC100130152 LOC107985425 KCNQ2 BIRC7 SRMS MIR124-3 EEF1A2
dgv521n27	Chr.20:63522433 - 63566995 on Build GRCh38	Loss	FNDC11 PTK6 HELZ2 SRMS
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	GMEB2 FLJ16779 HELZ2 LOC107985428 LINC00659 COL20A1 PPDPF LOC102723788 HAR1A LOC100130587 MIR4326 NKAIN4 COL9A3 LOC100130152 GID8 KCNQ2 SRMS EEF1A2 LINC01056 CHRNA4 OGFR FNDC11 PTK6 MRGBP MIR3196 YTHDF1 SLC17A9 BHLHE23 DPH3P1 TCFL5 OGFR-AS1 ARFGAP1 DIDO1 LOC107985425 LINC00029 LOC63930 HAR1B BIRC7 MIR124-3
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	FNDC11 PTK6 KCNQ2 PPDPF SRMS EEF1A2
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	GMEB2 FNDC11 PTK6 HELZ2 PPDPF LIME1 SLC2A4RG ARFRP1 LOC100505771 TNFRSF6B ZBTB46 STMN3 SRMS RTEL1-TNFRSF6B EEF1A2 RTEL1 ZGPAT
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	GMEB2 FNDC11 PTK6 HELZ2 KCNQ2 PPDPF SRMS EEF1A2
nsv586569	Chr.20:63496168 - 63548764 on Build GRCh38	Loss	PTK6 PPDPF SRMS EEF1A2
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	GMEB2 FNDC11 PTK6 HELZ2 PPDPF LIME1 SLC2A4RG ARFRP1 LOC100505771 TNFRSF6B KCNQ2 ZBTB46 STMN3 SRMS RTEL1-TNFRSF6B EEF1A2 RTEL1 ZGPAT

More Information

Additional Information:

For this assay, SNP(s) [rs114992630] 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, 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