Hs00688395_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88739392 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 Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100289580	NR_103774.1	3	1743
	AK127064.1	2	2495

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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIEZO1	NM_001142864.3			NP_001136336.2
	DR731297.1
	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	CDH15 LINC00304 PABPN1L LOC400558 LOC101927793 GALNS ZNF778 CBFA2T3 TRAPPC2L LOC339059 LOC100289580 LOC107987238 APRT PIEZO1 CDT1 SLC22A31 LOC100129697 MIR4722 LOC105371409 ACSF3 CTU2
nsv471113	Chr.16:88650665 - 88764428 on Build GRCh38	Loss	PIEZO1 MVD SNAI3 MIR4722 SNAI3-AS1 LOC339059 LOC100289580 RNF166 CYBA CTU2
nsv471114	Chr.16:88688461 - 88756339 on Build GRCh38	Gain	PIEZO1 MIR4722 LOC339059 LOC100289580 RNF166 CTU2
dgv3064n100	Chr.16:88683753 - 88846491 on Build GRCh38	Gain	LOC107987238 APRT PIEZO1 GALNS SNAI3 CDT1 MIR4722 SNAI3-AS1 LOC339059 LOC100289580 RNF166 CTU2
nsv517643	Chr.16:88713767 - 88756339 on Build GRCh38	Loss	PIEZO1 MIR4722 LOC339059 LOC100289580 CTU2
nsv833327	Chr.16:88667431 - 88757621 on Build GRCh38	Loss	PIEZO1 SNAI3 MIR4722 SNAI3-AS1 LOC339059 LOC100289580 RNF166 CTU2
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	CDH15 LINC00304 PABPN1L LOC400558 LOC101927793 LOC100287036 GALNS ZNF778 LOC105371414 CBFA2T3 TRAPPC2L LOC339059 LOC100289580 ANKRD11 LOC107987238 APRT PIEZO1 CDT1 SLC22A31 LOC100129697 LOC105371409 ACSF3
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	ZFPM1 SNAI3 LOC107984862 IL17C SNAI3-AS1 LOC339059 LOC100289580 CYBA ZC3H18-AS1 ZNF469 ZC3H18 MIR5189 PIEZO1 MVD MIR4722 RNF166 CTU2
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	CDH15 CENPBD1 AFG3L1P LOC105371414 VPS9D1-AS1 ANKRD11 SPATA2L FANCA SNORD68 MVD ACSF3 CTU2 SPG7 GALNS GAS8 SNAI3 TUBB3 CBFA2T3 TRAPPC2L CYBA RPL13 LOC107987238 DEF8 APRT DBNDD1 MC1R CDT1 URAHP CPNE7 MIR4722 LOC105371409 LOC101927817 RNF166 GAS8-AS1 CDK10 TUBB8P7 LOC400558 LOC101927793 LOC100287036 ZNF778 IL17C SNAI3-AS1 DPEP1 FAM157C SPATA33 LOC100129697 LOC107984817 SPIRE2 CHMP1A ZNF276 VPS9D1 PRDM7 LINC00304 PABPN1L LOC105371419 LOC339059 LOC100289580 PIEZO1 SLC22A31 TCF25
nsv1160442	Chr.16:88708161 - 88778524 on Build GRCh38	Deletion	PIEZO1 MIR4722 LOC339059 LOC100289580 CTU2
nsv1927	Chr.16:88712585 - 88743583 on Build GRCh38	Insertion	PIEZO1 MIR4722 LOC339059 LOC100289580 CTU2
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	PABPN1L LOC101927793 GALNS CBFA2T3 TRAPPC2L LOC339059 LOC100289580 LOC107987238 APRT PIEZO1 CDT1 LOC100129697 MIR4722 LOC105371409 CTU2

More Information

Additional Information:

For this assay, SNP(s) [rs75147129] 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