Hs01894237_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88739880 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	2231
	AK127064.1	2	2983

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

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