Hs03952067_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88734137 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 100289580
• Gene Name: uncharacterized LOC100289580
• Gene Aliases: -
• Location: Chr.16:88731180-88741425 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100289580	NR_103774.1
	AK294743.1

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 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIEZO1	NM_001142864.3			NP_001136336.2
	AB161230.1			BAF03565.1
	BC150271.1
	D87071.1			BAA13240.1
	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	LOC339059 ACSF3 LOC105371409 LOC107987238 CDH15 MIR4722 CTU2 LOC101927793 LOC100129697 TRAPPC2L LOC400558 CBFA2T3 PIEZO1 LOC100289580 LINC00304 APRT GALNS ZNF778 SLC22A31 PABPN1L CDT1
nsv471113	Chr.16:88650665 - 88764428 on Build GRCh38	Loss	LOC339059 MVD PIEZO1 LOC100289580 SNAI3-AS1 RNF166 CYBA MIR4722 CTU2 SNAI3
nsv471114	Chr.16:88688461 - 88756339 on Build GRCh38	Gain	LOC339059 PIEZO1 LOC100289580 RNF166 MIR4722 CTU2
dgv3064n100	Chr.16:88683753 - 88846491 on Build GRCh38	Gain	LOC339059 PIEZO1 LOC100289580 SNAI3-AS1 RNF166 APRT GALNS LOC107987238 MIR4722 CTU2 SNAI3 CDT1
nsv517643	Chr.16:88713767 - 88756339 on Build GRCh38	Loss	LOC339059 PIEZO1 LOC100289580 MIR4722 CTU2
nsv833327	Chr.16:88667431 - 88757621 on Build GRCh38	Loss	LOC339059 PIEZO1 LOC100289580 SNAI3-AS1 RNF166 MIR4722 CTU2 SNAI3
nsv573673	Chr.16:88721265 - 88735362 on Build GRCh38	Loss	PIEZO1 LOC100289580
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	ZNF469 LOC339059 MVD RNF166 MIR4722 CTU2 SNAI3 IL17C ZC3H18-AS1 PIEZO1 LOC107984862 ZFPM1 LOC100289580 SNAI3-AS1 CYBA ZC3H18 MIR5189
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC339059 ACSF3 AFG3L1P URAHP LOC107987238 CDH15 LOC100287036 LOC101927793 RPL13 CENPBD1 IL17C CBFA2T3 SNAI3-AS1 LINC00304 ANKRD11 CDT1 MC1R MIR4722 CTU2 SNAI3 TRAPPC2L CHMP1A FANCA VPS9D1-AS1 ZNF276 APRT CDK10 LOC107984817 LOC105371419 SLC22A31 TCF25 MVD LOC105371409 VPS9D1 SPATA2L DBNDD1 TUBB8P7 FAM157C DEF8 LOC100129697 LOC400558 LOC100289580 CYBA GALNS GAS8 ZNF778 PABPN1L SPIRE2 RNF166 LOC105371414 LOC101927817 SPATA33 SNORD68 PRDM7 SPG7 PIEZO1 TUBB3 CPNE7 DPEP1 GAS8-AS1
nsv1160442	Chr.16:88708161 - 88778524 on Build GRCh38	Deletion	LOC339059 PIEZO1 LOC100289580 MIR4722 CTU2
nsv1927	Chr.16:88712585 - 88743583 on Build GRCh38	Insertion	LOC339059 PIEZO1 LOC100289580 MIR4722 CTU2
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	LOC339059 LOC105371409 LOC107987238 MIR4722 CTU2 LOC101927793 LOC100129697 TRAPPC2L CBFA2T3 PIEZO1 LOC100289580 APRT GALNS PABPN1L CDT1

More Information

Additional Information:

For this assay, SNP(s) [rs66935855] 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