Hs01602198_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88738616 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	967
	AK127064.1	2	1719
	AK294743.1	3	967

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 Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIEZO1	NM_001142864.3	6	842	NP_001136336.2
	DR731297.1
	DV080349.1
	DV080374.1	3	342
	KC602455.1	6	586

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

More Information

Additional Information:

For this assay, SNP(s) [rs115481622] 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, 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