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

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