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	GALNS LOC107987238 PABPN1L SLC22A31 TRAPPC2L CDH15 LOC105371409 ACSF3 LOC100129697 ZNF778 LOC101927793 MIR4722 LINC00304 PIEZO1 CDT1 LOC339059 CTU2 LOC100289580 APRT CBFA2T3 LOC400558
nsv471113	Chr.16:88650665 - 88764428 on Build GRCh38	Loss	SNAI3 SNAI3-AS1 MIR4722 RNF166 MVD CYBA PIEZO1 LOC339059 CTU2 LOC100289580
nsv471114	Chr.16:88688461 - 88756339 on Build GRCh38	Gain	MIR4722 RNF166 PIEZO1 LOC339059 CTU2 LOC100289580
dgv3064n100	Chr.16:88683753 - 88846491 on Build GRCh38	Gain	SNAI3 SNAI3-AS1 GALNS LOC107987238 MIR4722 RNF166 PIEZO1 CDT1 LOC339059 CTU2 LOC100289580 APRT
nsv517643	Chr.16:88713767 - 88756339 on Build GRCh38	Loss	MIR4722 PIEZO1 LOC339059 CTU2 LOC100289580
nsv833327	Chr.16:88667431 - 88757621 on Build GRCh38	Loss	SNAI3 SNAI3-AS1 MIR4722 RNF166 PIEZO1 LOC339059 CTU2 LOC100289580
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	ANKRD11 GALNS LOC107987238 LOC105371414 PABPN1L SLC22A31 TRAPPC2L CDH15 LOC105371409 ACSF3 LOC100129697 ZNF778 LOC100287036 LOC101927793 LINC00304 PIEZO1 CDT1 LOC339059 LOC100289580 APRT CBFA2T3 LOC400558
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	SNAI3 ZC3H18 SNAI3-AS1 LOC107984862 ZFPM1 IL17C ZC3H18-AS1 MVD MIR4722 RNF166 ZNF469 CYBA PIEZO1 LOC339059 CTU2 LOC100289580 MIR5189
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	RPL13 TUBB3 SNAI3-AS1 GALNS LOC105371414 SPATA33 TRAPPC2L CPNE7 LOC105371409 MC1R SNORD68 CYBA LOC339059 CTU2 LOC400558 LOC107984817 DEF8 AFG3L1P ZNF276 PABPN1L SLC22A31 VPS9D1 DBNDD1 LOC100129697 PIEZO1 LOC100289580 CBFA2T3 VPS9D1-AS1 ANKRD11 CENPBD1 LOC107987238 GAS8 SPG7 MVD ACSF3 ZNF778 LOC101927817 APRT DPEP1 CHMP1A SNAI3 PRDM7 CDK10 IL17C CDH15 FANCA TCF25 FAM157C GAS8-AS1 LOC105371419 LOC100287036 LOC101927793 URAHP MIR4722 SPIRE2 RNF166 LINC00304 CDT1 SPATA2L TUBB8P7
nsv1160442	Chr.16:88708161 - 88778524 on Build GRCh38	Deletion	MIR4722 PIEZO1 LOC339059 CTU2 LOC100289580
nsv1927	Chr.16:88712585 - 88743583 on Build GRCh38	Insertion	MIR4722 PIEZO1 LOC339059 CTU2 LOC100289580
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	GALNS LOC107987238 PABPN1L TRAPPC2L LOC105371409 LOC100129697 LOC101927793 MIR4722 PIEZO1 CDT1 LOC339059 CTU2 LOC100289580 APRT CBFA2T3

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