Hs00247537_cn

• Gene Symbol: EPS8L2
• Assay Reference Genome Location: Chr.11:727170 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 64787
• Gene Name: EPS8 like 2
• Gene Aliases: EPS8R2
• Location: Chr.11:705217-727727 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPS8L2	NM_022772.3	21	2584	NP_073609.2
	XM_017018130.1	22	2801	XP_016873619.1
	XM_017018131.1	21	2672	XP_016873620.1
	XM_017018132.1	22	2642	XP_016873621.1
	AK025588.1	21	2502	BAB15180.1
	AK025824.1	21	2502	BAB15248.1
	AK027765.1	9	1396	BAB55354.1
	AK094539.1	13	1680
	AK122903.1	18	2780
	AK122984.1	6	1050
	AK222903.1	21	2497	BAD96623.1
	AK225311.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv469923	Chr.11:378188 - 1302334 on Build GRCh38	Loss	SCT CDHR5 TALDO1 RASSF7 TSPAN4 DEAF1 PDDC1 MIR210 LOC171391 MUC6 PIDD1 MUC5B RNH1 IRF7 TMEM80 MUC2 MIR6744 ANO9 B4GALNT4 PHRF1 SNORA52 LOC101927503 LOC143666 CHID1 EPS8L2 POLR2L PKP3 PTDSS2 CEND1 LMNTD2 DRD4 SLC25A22 MIR210HG LRRC56 CRACR2B LOC101059906 PANO1 AP2A2 HRAS TOLLIP SIGIRR RPLP2 PNPLA2 CD151 MUC5AC
nsv522733	Chr.11:702250 - 752059 on Build GRCh38	Loss	EPS8L2 TALDO1 TMEM80
esv2759794	Chr.11:409846 - 1336162 on Build GRCh38	Loss	SCT CDHR5 TALDO1 RASSF7 TSPAN4 DEAF1 PDDC1 MIR210 LOC171391 MUC6 PIDD1 MUC5B RNH1 IRF7 TMEM80 MUC2 MIR6744 ANO9 PHRF1 SNORA52 LOC101927503 LOC143666 CHID1 EPS8L2 POLR2L PTDSS2 CEND1 LMNTD2 DRD4 SLC25A22 TOLLIP-AS1 MIR210HG LRRC56 CRACR2B LOC101059906 PANO1 AP2A2 HRAS TOLLIP SIGIRR RPLP2 PNPLA2 CD151 MUC5AC
nsv832043	Chr.11:631027 - 758602 on Build GRCh38	Loss	EPS8L2 TALDO1 TMEM80 DEAF1 DRD4
nsv552869	Chr.11:702097 - 727446 on Build GRCh38	Loss	EPS8L2 TMEM80
dgv182e199	Chr.11:349830 - 943372 on Build GRCh38	Deletion	SCT CDHR5 TALDO1 RASSF7 TSPAN4 DEAF1 PDDC1 MIR210 LOC171391 PIDD1 RNH1 IRF7 TMEM80 ANO9 B4GALNT4 PHRF1 SNORA52 LOC143666 CHID1 EPS8L2 POLR2L PKP3 PTDSS2 CEND1 LMNTD2 DRD4 SLC25A22 MIR210HG LRRC56 CRACR2B LOC101059906 PANO1 AP2A2 HRAS SIGIRR RPLP2 PNPLA2 CD151
nsv1159791	Chr.11:461793 - 909492 on Build GRCh38	Deletion	SCT CDHR5 TALDO1 RASSF7 TSPAN4 DEAF1 PDDC1 MIR210 LOC171391 PIDD1 RNH1 IRF7 TMEM80 PHRF1 SNORA52 LOC143666 CHID1 EPS8L2 POLR2L PTDSS2 CEND1 LMNTD2 DRD4 SLC25A22 MIR210HG LRRC56 CRACR2B LOC101059906 PANO1 HRAS RPLP2 PNPLA2 CD151
esv33757	Chr.11:723475 - 727720 on Build GRCh38	Gain	EPS8L2

More Information

Additional Information:

For this assay, SNP(s) [rs145863912] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

Rho protein signal transduction
regulation of Rho protein signal transduction
positive regulation of GTPase activity
cell-cell adhesion
positive regulation of ruffle assembly

Function(s)

actin binding
Rho guanyl-nucleotide exchange factor activity
Rac guanyl-nucleotide exchange factor activity
cadherin binding involved in cell-cell adhesion