Hs02111212_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88740720 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	3071
	AK127064.1	2	3823

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

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