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	PTK6 CHRNA4 SRMS MIR3196 PPDPF HELZ2 LOC102723788 BIRC7 EEF1A2 COL20A1 KCNQ2 FLJ16779 MIR124-3 NKAIN4 ARFGAP1 LOC100130587 YTHDF1 FNDC11 MIR4326 LOC100130152 LOC107985425
nsv586573	Chr.20:63535645 - 63560584 on Build GRCh38	Loss	PTK6 SRMS HELZ2 FNDC11
dgv521n27	Chr.20:63522433 - 63566995 on Build GRCh38	Loss	PTK6 SRMS HELZ2 FNDC11
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	MRGBP SRMS MIR3196 COL9A3 PPDPF HELZ2 LINC00659 BIRC7 TCFL5 HAR1B OGFR-AS1 GID8 LOC107985428 FLJ16779 MIR124-3 ARFGAP1 MIR4326 PTK6 DPH3P1 CHRNA4 LOC102723788 LINC01056 DIDO1 LINC00029 EEF1A2 COL20A1 SLC17A9 KCNQ2 GMEB2 BHLHE23 NKAIN4 LOC100130587 YTHDF1 FNDC11 HAR1A OGFR LOC63930 LOC100130152 LOC107985425
nsv834033	Chr.20:63421436 - 63554987 on Build GRCh38	Gain	PTK6 EEF1A2 KCNQ2 SRMS PPDPF FNDC11
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	PTK6 RTEL1-TNFRSF6B SRMS PPDPF HELZ2 STMN3 ARFRP1 EEF1A2 GMEB2 TNFRSF6B LOC100505771 LIME1 FNDC11 ZBTB46 SLC2A4RG RTEL1 ZGPAT
nsv834034	Chr.20:63462825 - 63625901 on Build GRCh38	Loss	PTK6 EEF1A2 KCNQ2 SRMS GMEB2 PPDPF HELZ2 FNDC11
nsv586569	Chr.20:63496168 - 63548764 on Build GRCh38	Loss	PTK6 EEF1A2 SRMS PPDPF
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	PTK6 RTEL1-TNFRSF6B SRMS PPDPF HELZ2 STMN3 ARFRP1 EEF1A2 KCNQ2 GMEB2 TNFRSF6B LOC100505771 LIME1 FNDC11 ZBTB46 SLC2A4RG RTEL1 ZGPAT

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