Hs01081448_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88732538 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: Overlaps Exon 20 - Exon 21

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	PABPN1L ZNF778 CBFA2T3 TRAPPC2L CDT1 APRT LOC400558 SLC22A31 LINC00304 LOC107987238 LOC100129697 MIR4722 LOC339059 LOC100289580 LOC101927793 PIEZO1 ACSF3 CTU2 LOC105371409 GALNS CDH15
nsv471113	Chr.16:88650665 - 88764428 on Build GRCh38	Loss	RNF166 MIR4722 MVD LOC339059 LOC100289580 PIEZO1 CYBA CTU2 SNAI3-AS1 SNAI3
esv998799	Chr.16:88731962 - 88732995 on Build GRCh38	Insertion	LOC100289580 PIEZO1
dgv3064n100	Chr.16:88683753 - 88846491 on Build GRCh38	Gain	RNF166 MIR4722 LOC339059 LOC100289580 PIEZO1 CTU2 SNAI3-AS1 GALNS SNAI3 CDT1 APRT LOC107987238
nsv517643	Chr.16:88713767 - 88756339 on Build GRCh38	Loss	MIR4722 LOC339059 LOC100289580 PIEZO1 CTU2
nsv833327	Chr.16:88667431 - 88757621 on Build GRCh38	Loss	RNF166 MIR4722 LOC339059 LOC100289580 PIEZO1 CTU2 SNAI3-AS1 SNAI3
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	ZNF276 ZNF778 DBNDD1 LOC105371419 URAHP LOC107984817 ACSF3 RPL13 CDH15 AFG3L1P CPNE7 FANCA LINC00304 SNORD68 FAM157C LOC107987238 PRDM7 CENPBD1 SPG7 CTU2 SNAI3-AS1 LOC105371409 TUBB8P7 SPATA33 MVD LOC105371414 CDK10 TUBB3 DEF8 APRT LOC400558 SLC22A31 DPEP1 MIR4722 LOC339059 LOC100289580 GAS8-AS1 VPS9D1-AS1 TCF25 GALNS MC1R CHMP1A SNAI3 RNF166 PABPN1L CBFA2T3 CYBA SPIRE2 TRAPPC2L CDT1 LOC100129697 GAS8 IL17C LOC101927793 PIEZO1 LOC101927817 VPS9D1 ANKRD11 SPATA2L LOC100287036
nsv1927	Chr.16:88712585 - 88743583 on Build GRCh38	Insertion	MIR4722 LOC339059 LOC100289580 PIEZO1 CTU2
nsv471114	Chr.16:88688461 - 88756339 on Build GRCh38	Gain	RNF166 MIR4722 LOC339059 LOC100289580 PIEZO1 CTU2
nsv573673	Chr.16:88721265 - 88735362 on Build GRCh38	Loss	LOC100289580 PIEZO1
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	RNF166 MVD ZC3H18 LOC107984862 ZC3H18-AS1 CYBA MIR4722 IL17C LOC339059 LOC100289580 PIEZO1 CTU2 SNAI3-AS1 SNAI3 MIR5189 ZFPM1 ZNF469
nsv1160442	Chr.16:88708161 - 88778524 on Build GRCh38	Deletion	MIR4722 LOC339059 LOC100289580 PIEZO1 CTU2
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	PABPN1L CBFA2T3 TRAPPC2L CDT1 APRT LOC107987238 LOC100129697 MIR4722 LOC339059 LOC100289580 LOC101927793 PIEZO1 CTU2 LOC105371409 GALNS

More Information

Additional Information:

For this assay, SNP(s) [rs73266607] 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, Exonic, 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