Hs03700440_cn

• Gene Symbol: EGFL7
• Assay Reference Genome Location: Chr.9:136661279 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 51162
• Gene Name: EGF like domain multiple 7
• Gene Aliases: NEU1, VE-STATIN, ZNEU1
• Location: Chr.9:136654753-136672678 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EGFL7	NR_046367.1
	XM_011518764.1			XP_011517066.1
	XM_011518765.1			XP_011517067.1
	XM_011518766.1			XP_011517068.1
	XM_011518767.1			XP_011517069.1
	XM_011518768.1			XP_011517070.1
	XM_017014795.1			XP_016870284.1
	XM_017014796.1			XP_016870285.1
	XM_017014797.1			XP_016870286.1
	XM_017014798.1			XP_016870287.1
	XM_017014799.1			XP_016870288.1
	AK091964.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv13005n54	Chr.9:136605258 - 136696482 on Build GRCh38	Loss	LINC01451 AGPAT2 MIR126 HSPC324 EGFL7
nsv509334	Chr.9:136514168 - 136724663 on Build GRCh38	Insertion	MIR4673 NALT1 NOTCH1 LINC01451 AGPAT2 MIR126 FAM69B HSPC324 EGFL7 SNHG7 MIR4674
nsv951203	Chr.9:136562849 - 136770848 on Build GRCh38	Deletion	LCN8 SNORA17B AGPAT2 MIR126 HSPC324 EGFL7 LCN15 LCN6 SNORA17A LINC01451 MIR6722 LCN10 FAM69B SNHG7 LOC100128593
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	SDCCAG3 CCDC183 INPP5E LCN8 NALT1 SNAPC4 SEC16A RABL6 MIR4479 MAMDC4 HSPC324 EGFL7 LCN15 NOTCH1 CARD9 EDF1 MIR6722 C9orf172 FAM69B GPSM1 MIR4674 LOC100128593 SNORA17B MIR4292 C9orf163 AGPAT2 MIR126 PHPT1 TRAF2 CCDC183-AS1 LCN6 MIR4673 SNORA17A DNLZ LINC01451 PMPCA LCN10 TMEM141 SNHG7
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	SDCCAG3 CCDC183 INPP5E SEC16A RABL6 MAMDC4 C9orf139 FUT7 FAM69B MIR4674 ENTPD2 SNORA17B MIR4292 PTGDS MAN1B1-AS1 C9orf163 PHPT1 SAPCD2 TRAF2 LCNL1 MIR4673 DNLZ LINC01451 UAP1L1 PMPCA LCN10 PRR31 LCN8 NALT1 SNAPC4 TMEM210 ABCA2 CLIC3 MIR4479 LRRC26 HSPC324 EGFL7 GRIN1 LCN15 NOTCH1 CARD9 DPP7 EDF1 MIR6722 LCN12 C9orf172 LOC100128593 NPDC1 MIR3621 AGPAT2 MIR126 C8G MAN1B1 LOC101930307 FBXW5 CCDC183-AS1 LCN6 SNORA17A C9orf142 TMEM141 SNHG7
nsv8579	Chr.9:136505432 - 136760256 on Build GRCh38	Gain	LCN8 SNORA17B NALT1 AGPAT2 MIR126 HSPC324 EGFL7 LCN15 LCN6 MIR4673 NOTCH1 SNORA17A LINC01451 MIR6722 LCN10 FAM69B SNHG7 MIR4674 LOC100128593
dgv955n27	Chr.9:136583078 - 136676165 on Build GRCh38	Loss	LINC01451 AGPAT2 MIR126 HSPC324 EGFL7
nsv1053781	Chr.9:136590694 - 136722927 on Build GRCh38	Gain	LINC01451 AGPAT2 MIR126 FAM69B HSPC324 EGFL7
dgv13006n54	Chr.9:136619086 - 136725859 on Build GRCh38	Loss	AGPAT2 MIR126 FAM69B HSPC324 EGFL7 SNHG7
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	TUBB4B CCDC183 NELFB RABL6 TMEM203 MAMDC4 ANAPC2 C9orf139 FUT7 FAM69B ENTPD2 SNORA17B MIR4292 PTGDS MAN1B1-AS1 STPG3 PHPT1 SAPCD2 TRAF2 LCNL1 LINC01451 UAP1L1 FAM166A LCN10 PRR31 LCN8 TMEM210 ABCA2 CLIC3 TPRN MIR4479 RNF224 TOR4A LRRC26 HSPC324 EGFL7 NRARP GRIN1 EXD3 SSNA1 LCN15 C9orf173-AS1 RNF208 DPP7 EDF1 MIR6722 LCN12 C9orf172 SLC34A3 LOC100128593 NPDC1 MIR3621 AGPAT2 MIR126 CYSRT1 C8G MAN1B1 NDOR1 LOC101930307 FBXW5 CCDC183-AS1 LCN6 SNORA17A C9orf142 TMEM141 SNHG7

More Information

Additional Information:

For this assay, SNP(s) [rs75759763] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

intercellular signal molecule

Gene Ontology Categories:

Process(es)

angiogenesis
blood vessel development
vasculogenesis
positive regulation of endothelial cell proliferation
cell adhesion
negative regulation of Notch signaling pathway

Function(s)

calcium ion binding