Hs04029491_cn

• Gene Symbol: EFNA2
• Assay Reference Genome Location: Chr.19:1286769 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 1943
• Gene Name: ephrin A2
• Gene Aliases: ELF-1, EPLG6, HEK7-L, LERK-6, LERK6
• Location: Chr.19:1282817-1301431 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFNA2	NM_001405.3			NP_001396.2
	XM_017026449.1			XP_016881938.1
	XM_017026450.1			XP_016881939.1
	AJ007292.1			CAA07435.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1055164	Chr.19:1246647 - 1389804 on Build GRCh38	Gain	EFNA2 CIRBP CIRBP-AS1 MUM1 NDUFS7 MIDN C19orf24
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	ABCA7 EFNA2 CIRBP LOC102725180 CIRBP-AS1 CBARP MIDN ATP5D C19orf24 GPX4 STK11 CNN2 SBNO2 POLR2E ARHGAP45
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	ABCA7 EFNA2 CIRBP LOC102725180 RNU6-9 WDR18 CIRBP-AS1 CBARP RNU6-2 MIDN ARID3A KISS1R ATP5D C19orf24 R3HDM4 GPX4 GRIN3B STK11 CNN2 LOC105372235 TMEM259 SBNO2 POLR2E ARHGAP45
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	EFNA2 CIRBP LOC102725180 CIRBP-AS1 CBARP STK11 MIDN SBNO2 ATP5D C19orf24
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	ABCA7 CIRBP WDR18 ARID3A C19orf24 R3HDM4 STK11 CNN2 SBNO2 POLR2E ARHGAP45 MED16 EFNA2 LOC102725180 RNU6-9 CIRBP-AS1 CBARP RNU6-2 MIDN KISS1R ATP5D GPX4 GRIN3B LOC105372235 TMEM259
nsv953941	Chr.19:1205602 - 1322401 on Build GRCh38	Deletion	EFNA2 CIRBP CIRBP-AS1 CBARP STK11 MIDN ATP5D C19orf24
esv3643391	Chr.19:1273202 - 1294781 on Build GRCh38	Gain	EFNA2 CIRBP C19orf24
nsv1060536	Chr.19:1228266 - 1329640 on Build GRCh38	Gain	EFNA2 CIRBP CIRBP-AS1 CBARP STK11 MIDN ATP5D C19orf24
esv3643389	Chr.19:1264454 - 1397379 on Build GRCh38	Gain	EFNA2 CIRBP CIRBP-AS1 MUM1 NDUFS7 C19orf24 GAMT
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	EFNA2 CIRBP LOC102725180 CIRBP-AS1 CBARP MIDN ATP5D C19orf24 GPX4 STK11 SBNO2 POLR2E ARHGAP45
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	ABCA7 CIRBP WDR18 REEP6 ADAMTSL5 ARID3A C19orf24 APC2 DAZAP1 RPS15 STK11 CNN2 SBNO2 POLR2E ARHGAP45 PLK5 GAMT EFNA2 LOC102725180 C19orf25 CIRBP-AS1 CBARP RNU6-2 NDUFS7 MIDN PCSK4 ATP5D GPX4 GRIN3B LOC105372235 TMEM259 MUM1

More Information

Additional Information:

For this assay, SNP(s) [rs116014859] 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 -

membrane-bound signaling molecule

Gene Ontology Categories:

Process(es)

cell-cell signaling
axon guidance
olfactory bulb development
osteoclast differentiation
bone remodeling
ephrin receptor signaling pathway

Function(s)

ephrin receptor binding