Hs01072061_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88738934 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	1285
	AK127064.1	2	2037
	AK294743.1	3	1285

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

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