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	AGPAT2 LINC01451 MIR126 EGFL7 HSPC324
nsv509334	Chr.9:136514168 - 136724663 on Build GRCh38	Insertion	AGPAT2 LINC01451 MIR126 FAM69B MIR4673 MIR4674 EGFL7 HSPC324 NOTCH1 NALT1 SNHG7
nsv951203	Chr.9:136562849 - 136770848 on Build GRCh38	Deletion	AGPAT2 MIR126 LCN6 SNORA17B LOC100128593 SNHG7 LCN10 LINC01451 LCN15 FAM69B MIR6722 EGFL7 HSPC324 SNORA17A LCN8
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	AGPAT2 MIR126 SEC16A MIR3621 MIR4292 MIR4479 LCN6 C9orf163 SNORA17B C9orf139 SNAPC4 DNLZ C8G ABCA2 LCN12 FAM69B MIR4673 LCNL1 EDF1 MAN1B1 C9orf142 FBXW5 PTGDS MAMDC4 DPP7 LCN10 MAN1B1-AS1 CCDC183-AS1 LCN15 INPP5E MIR6722 LRRC26 TMEM141 CARD9 GRIN1 TRAF2 LOC100128593 ENTPD2 SNHG7 LINC01451 PMPCA HSPC324 NALT1 SAPCD2 NPDC1 CCDC183 C9orf172 MIR4674 UAP1L1 NOTCH1 LOC101930307 TMEM210 RABL6 PRR31 CLIC3 EGFL7 PHPT1 SDCCAG3 FUT7 SNORA17A LCN8
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	AGPAT2 TMEM141 CARD9 MIR126 SEC16A MIR4292 MIR4479 LCN6 C9orf163 TRAF2 SNORA17B LOC100128593 SNAPC4 DNLZ SNHG7 LINC01451 FAM69B MIR4673 PMPCA HSPC324 GPSM1 NALT1 CCDC183 C9orf172 EDF1 MIR4674 NOTCH1 MAMDC4 LCN10 CCDC183-AS1 LCN15 RABL6 INPP5E MIR6722 EGFL7 PHPT1 SDCCAG3 SNORA17A LCN8
nsv8579	Chr.9:136505432 - 136760256 on Build GRCh38	Gain	AGPAT2 MIR126 MIR4674 LCN6 SNORA17B LOC100128593 NOTCH1 SNHG7 LCN10 LINC01451 LCN15 FAM69B MIR6722 MIR4673 EGFL7 HSPC324 NALT1 SNORA17A LCN8
nsv615971	Chr.9:136583078 - 136670216 on Build GRCh38	Loss	LINC01451 EGFL7 HSPC324
nsv1053781	Chr.9:136590694 - 136722927 on Build GRCh38	Gain	AGPAT2 LINC01451 MIR126 FAM69B EGFL7 HSPC324
dgv957n27	Chr.9:136619086 - 136725859 on Build GRCh38	Loss	AGPAT2 MIR126 FAM69B EGFL7 HSPC324 SNHG7
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	AGPAT2 MIR126 CYSRT1 NRARP MIR3621 MIR4292 MIR4479 LCN6 SNORA17B C9orf139 C8G ABCA2 LCN12 FAM69B LCNL1 TOR4A TPRN ANAPC2 EDF1 MAN1B1 C9orf142 FBXW5 PTGDS MAMDC4 DPP7 LCN10 MAN1B1-AS1 CCDC183-AS1 LCN15 SLC34A3 MIR6722 NELFB TMEM203 LRRC26 TMEM141 GRIN1 TUBB4B TRAF2 LOC100128593 ENTPD2 SNHG7 SSNA1 C9orf173-AS1 LINC01451 HSPC324 STPG3 FAM166A SAPCD2 RNF224 NPDC1 NDOR1 CCDC183 C9orf172 RNF208 UAP1L1 LOC101930307 TMEM210 RABL6 PRR31 CLIC3 EGFL7 PHPT1 FUT7 EXD3 SNORA17A LCN8

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