Hs01817702_cn

• Gene Symbol: LOC100289580
• Assay Reference Genome Location: Chr.16:88740867 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	3218
	AK127064.1	2	3970

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 ZNF778 CDT1 GALNS PIEZO1 LOC400558 MIR4722 CBFA2T3 ACSF3 LOC107987238 TRAPPC2L CDH15 LOC100289580 LOC100129697 LOC339059 LOC105371409 SLC22A31 LOC101927793 LINC00304 PABPN1L CTU2
nsv471113	Chr.16:88650665 - 88764428 on Build GRCh38	Loss	SNAI3-AS1 LOC100289580 MVD LOC339059 SNAI3 CYBA PIEZO1 RNF166 MIR4722 CTU2
dgv3064n100	Chr.16:88683753 - 88846491 on Build GRCh38	Gain	SNAI3-AS1 APRT LOC100289580 CDT1 LOC339059 GALNS SNAI3 PIEZO1 RNF166 MIR4722 LOC107987238 CTU2
nsv517643	Chr.16:88713767 - 88756339 on Build GRCh38	Loss	LOC100289580 LOC339059 PIEZO1 MIR4722 CTU2
nsv833327	Chr.16:88667431 - 88757621 on Build GRCh38	Loss	SNAI3-AS1 LOC100289580 LOC339059 SNAI3 PIEZO1 RNF166 MIR4722 CTU2
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	APRT ZNF778 CDT1 LOC105371414 GALNS PIEZO1 LOC400558 CBFA2T3 ACSF3 LOC107987238 TRAPPC2L CDH15 LOC100289580 LOC100129697 LOC339059 ANKRD11 LOC105371409 SLC22A31 LOC101927793 LINC00304 PABPN1L LOC100287036
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	APRT ZNF778 CDK10 SPATA2L VPS9D1-AS1 MIR4722 DBNDD1 DPEP1 CDH15 LOC339059 LOC105371409 IL17C CDT1 LOC105371414 PRDM7 SPATA33 CBFA2T3 RPL13 FANCA FAM157C LOC100289580 LOC107984817 ANKRD11 SNORD68 GAS8-AS1 GAS8 LOC101927793 URAHP PABPN1L TCF25 CPNE7 MVD CYBA VPS9D1 ZNF276 LOC107987238 TUBB3 TRAPPC2L LOC105371419 DEF8 LINC00304 SPIRE2 LOC100287036 CTU2 CENPBD1 SNAI3-AS1 GALNS PIEZO1 LOC400558 ACSF3 TUBB8P7 LOC100129697 CHMP1A SNAI3 SPG7 SLC22A31 AFG3L1P LOC101927817 RNF166 MC1R
nsv1927	Chr.16:88712585 - 88743583 on Build GRCh38	Insertion	LOC100289580 LOC339059 PIEZO1 MIR4722 CTU2
nsv471114	Chr.16:88688461 - 88756339 on Build GRCh38	Gain	LOC100289580 LOC339059 PIEZO1 RNF166 MIR4722 CTU2
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	IL17C SNAI3-AS1 MVD ZNF469 CYBA PIEZO1 MIR4722 MIR5189 ZC3H18 ZFPM1 LOC100289580 ZC3H18-AS1 LOC339059 LOC107984862 SNAI3 RNF166 CTU2
nsv1160442	Chr.16:88708161 - 88778524 on Build GRCh38	Deletion	LOC100289580 LOC339059 PIEZO1 MIR4722 CTU2
nsv1061256	Chr.16:88711587 - 89013365 on Build GRCh38	Gain	APRT CDT1 GALNS PIEZO1 MIR4722 CBFA2T3 LOC107987238 TRAPPC2L LOC100289580 LOC100129697 LOC339059 LOC105371409 LOC101927793 PABPN1L CTU2
nsv573675	Chr.16:88740797 - 88743485 on Build GRCh38	Loss	LOC100289580 LOC339059 PIEZO1

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