Hs00684278_cn

• Gene Symbol: LOC339059
• Assay Reference Genome Location: Chr.16:88743628 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 339059
• Gene Name: uncharacterized LOC339059
• Gene Aliases: -
• Location: Chr.16:88742767-88745748 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC339059	NR_120387.1
	AK097767.1			BAC05165.1
	BC111769.1	1	808	AAI11770.1

Target Gene Details

• Entrez Gene ID: 9780
• Gene Name: piezo type mechanosensitive ion channel component 1
• Gene Aliases: DHS, FAM38A, LMPH3, Mib
• Location: Chr.16:88715338-88785220 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIEZO1	NM_001142864.3			NP_001136336.2
	HY165228.1
	KC602455.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	ZNF778 SLC22A31 LOC107987238 TRAPPC2L CTU2 PABPN1L MIR4722 PIEZO1 CBFA2T3 ACSF3 GALNS LOC400558 LINC00304 CDT1 CDH15 LOC105371409 LOC100289580 LOC101927793 LOC100129697 APRT LOC339059
nsv471114	Chr.16:88688461 - 88756339 on Build GRCh38	Gain	RNF166 LOC100289580 CTU2 LOC339059 MIR4722 PIEZO1
nsv471113	Chr.16:88650665 - 88764428 on Build GRCh38	Loss	MVD SNAI3-AS1 RNF166 CYBA LOC100289580 CTU2 LOC339059 SNAI3 MIR4722 PIEZO1
dgv3064n100	Chr.16:88683753 - 88846491 on Build GRCh38	Gain	SNAI3-AS1 RNF166 GALNS CDT1 LOC107987238 LOC100289580 CTU2 APRT LOC339059 SNAI3 MIR4722 PIEZO1
nsv517643	Chr.16:88713767 - 88756339 on Build GRCh38	Loss	LOC100289580 CTU2 LOC339059 MIR4722 PIEZO1
nsv833327	Chr.16:88667431 - 88757621 on Build GRCh38	Loss	SNAI3-AS1 RNF166 LOC100289580 CTU2 LOC339059 SNAI3 MIR4722 PIEZO1
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	ZNF778 SLC22A31 LOC107987238 LOC105371414 TRAPPC2L PABPN1L PIEZO1 CBFA2T3 ACSF3 GALNS LOC400558 LINC00304 CDT1 ANKRD11 CDH15 LOC105371409 LOC100289580 LOC101927793 LOC100129697 APRT LOC339059 LOC100287036
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	SNAI3-AS1 ZNF469 CYBA ZC3H18 CTU2 MIR5189 MIR4722 ZC3H18-AS1 PIEZO1 MVD RNF166 LOC107984862 ZFPM1 LOC100289580 LOC339059 SNAI3 IL17C
nsv1927	Chr.16:88712585 - 88743583 on Build GRCh38	Insertion	LOC100289580 CTU2 LOC339059 MIR4722 PIEZO1
nsv1160442	Chr.16:88708161 - 88778524 on Build GRCh38	Deletion	LOC100289580 CTU2 LOC339059 MIR4722 PIEZO1
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	CYBA LOC107987238 DEF8 GAS8 VPS9D1-AS1 PABPN1L SPG7 PIEZO1 MVD ACSF3 LOC400558 LOC107984817 LOC105371409 LOC100289580 SNAI3 SNAI3-AS1 FAM157C MC1R RPL13 LOC105371414 TRAPPC2L TUBB8P7 CDK10 PRDM7 RNF166 CENPBD1 DPEP1 CPNE7 ZNF778 TCF25 SLC22A31 FANCA GAS8-AS1 MIR4722 SNORD68 SPATA33 VPS9D1 ANKRD11 AFG3L1P APRT LOC339059 IL17C LOC100287036 ZNF276 CHMP1A SPATA2L TUBB3 LOC101927817 CTU2 LOC105371419 CBFA2T3 DBNDD1 GALNS SPIRE2 LINC00304 CDT1 CDH15 URAHP LOC101927793 LOC100129697
dgv3065n100	Chr.16:88711587 - 88927172 on Build GRCh38	Gain	LOC107987238 TRAPPC2L CTU2 PABPN1L MIR4722 PIEZO1 CBFA2T3 GALNS CDT1 LOC100289580 LOC101927793 APRT LOC339059

More Information

Additional Information:

For this assay, SNP(s) [rs73266647] 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

Gene Ontology Categories:

Process(es)

cation transport
positive regulation of integrin activation
positive regulation of cell-cell adhesion mediated by integrin
cation transmembrane transport

Function(s)

cation channel activity
mechanically-gated ion channel activity