Hs02146650_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88740179 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	2530
	AK127064.1	2	3282

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

More Information

• 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