Hs02321565_cn

• Gene Symbol: SHPK
• Assay Reference Genome Location: Chr.17:3624232 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 23729
• Gene Name: sedoheptulokinase
• Gene Aliases: CARKL, SHK
• Location: Chr.17:3608262-3636322 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHPK	NM_013276.2			NP_037408.2
	AF163573.1			AAF24936.1
	AK055609.1
	AK298360.1
	AK312428.1
	AL832420.1			CAH10646.1
	BC020543.1			AAH20543.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv3085n100	Chr.17:3595117 - 3665113 on Build GRCh38	Loss	P2RX5-TAX1BP3 SHPK TAX1BP3 CTNS TRPV1
esv3639749	Chr.17:3570544 - 3639124 on Build GRCh38	Gain	SHPK CTNS TRPV1
esv3639752	Chr.17:3601104 - 3658235 on Build GRCh38	Loss	SHPK CTNS TRPV1
dgv882e212	Chr.17:3585851 - 3654158 on Build GRCh38	Loss	SHPK CTNS TRPV1
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	OR3A3 GSG2 OR1E2 P2RX5-TAX1BP3 SHPK SPATA22 ASPA CTNS TRPV3 CAMKK1 ITGAE OR1E1 NCBP3 OR3A2 TAX1BP3 TRPV1 EMC6 P2RX5
esv3572354	Chr.17:3528675 - 3654158 on Build GRCh38	Gain	SHPK CTNS TRPV3 TRPV1
esv2762588	Chr.17:3602274 - 3654159 on Build GRCh38	Loss	SHPK CTNS TRPV1
dgv5423n54	Chr.17:3601261 - 3665107 on Build GRCh38	Loss	P2RX5-TAX1BP3 SHPK TAX1BP3 CTNS TRPV1
nsv516676	Chr.17:3553441 - 3652130 on Build GRCh38	Gain+Loss	SHPK CTNS TRPV3 TRPV1
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	ITGAE GSG2 P2RX5-TAX1BP3 SHPK SPATA22 TAX1BP3 ASPA CTNS TRPV3 TRPV1 EMC6 P2RX5
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	CLUH OR1D2 GSG2 P2RX5-TAX1BP3 SHPK SPATA22 OR1A2 CCDC92B ITGAE MIR6776 LOC105371591 ATP2A3 TRPV1 LOC105371592 P2RX5 OR3A4P OR3A3 OR1E2 RAP1GAP2 ASPA CTNS TRPV3 OR1D5 CAMKK1 OR1E1 OR3A1 NCBP3 LOC101927911 MIR1253 P2RX1 OR3A2 TAX1BP3 OR1D4 PAFAH1B1 OR1G1 EMC6 OR1A1
esv2662762	Chr.17:3601001 - 3658179 on Build GRCh38	Deletion	SHPK CTNS TRPV1
esv997341	Chr.17:3617989 - 3627334 on Build GRCh38	Deletion	SHPK
dgv358n27	Chr.17:3601921 - 3664167 on Build GRCh38	Loss	P2RX5-TAX1BP3 SHPK TAX1BP3 CTNS TRPV1
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR3A3 OR1E2 SHPK SPATA22 ASPA TRPV3 TRPV1

More Information

Additional Information:

For this assay, SNP(s) [rs150638104] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

carbohydrate kinase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
pentose-phosphate shunt, non-oxidative branch
phosphorylation
cellular response to interleukin-13
regulation of macrophage activation
regulation of inflammatory response
cellular response to lipopolysaccharide
cellular response to interleukin-4

Function(s)

ATP binding
sedoheptulokinase activity