Hs02743663_cn

• Gene Symbol: EML6
• Assay Reference Genome Location: Chr.2:54972320 on build GRCh38
• Cytoband: 2p16.1

Target Gene Details

• Entrez Gene ID: 400954
• Gene Name: echinoderm microtubule associated protein like 6
• Gene Aliases: -
• Location: Chr.2:54723467-54972908 on Build GRCh38
• Assay Gene Location: Within Exon 45

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EML6	XM_017004098.1	43	8329	XP_016859587.1
	XM_017004099.1	42	8314	XP_016859588.1
	XM_017004101.1	37	7163	XP_016859590.1

Target Gene Details

• Entrez Gene ID: 57142
• Gene Name: reticulon 4
• Gene Aliases: ASY, NI220/250, NOGO, NOGO-A, NOGOC, NSP, NSP-CL, Nbla00271, Nbla10545, Nogo-B, Nogo-C, RTN-X, RTN4-A, RTN4-B1, RTN4-B2, RTN4-C
• Location: Chr.2:54972187-55137831 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RTN4	NM_001321859.1	9	3960	NP_001308788.1
	NM_001321860.1	9	4030	NP_001308789.1
	NM_001321861.1	9	3993	NP_001308790.1
	NM_001321862.1	9	3980	NP_001308791.1
	NM_001321863.1	9	3930	NP_001308792.1
	NM_001321904.1	10	4408	NP_001308833.1
	NM_007008.2	7	1650	NP_008939.1
	NM_020532.4	9	4713	NP_065393.1
	NM_153828.2	7	2256	NP_722550.1
	NM_207520.1	8	2313	NP_997403.1
	NM_207521.1	9	3971	NP_997404.1
	NR_135829.1	7	1536
	NR_135830.1	7	1514
	XM_005264434.3	10	4107	XP_005264491.1
	XM_017004518.1	10	4146	XP_016860007.1
	XM_017004519.1	10	4263	XP_016860008.1
	AB015639.1	8	1925	BAA83712.1
	AF077050.1			AAD27783.1
	AF087901.1	8	1481	AAG12205.1
	AF125103.1	7	1650	AAD39920.1
	AF132047.1	7	2137	AAD31021.1
	AF132048.1	7	1556	AAD31022.1
	AF148537.1	10	4496	AAG12176.1
	AF148538.1	7	2099	AAG12177.1
	AF177332.1	7	1555	AAG17976.1
	AI671568.1	1	159
	AK172726.1	5	1080
	AY102276.1	7	1670	AAM64245.1
	AY102277.1	7	2202	AAM64246.1
	AY102278.1	8	2259	AAM64247.1
	AY102279.1	9	4659	AAM64248.1
	AY123245.1	9	3972	AAM64249.1
	AY123246.1	9	4030	AAM64250.1
	AY123247.1	9	3993	AAM64251.1
	AY123248.1	9	3979	AAM64252.1
	AY123249.1	9	3940	AAM64253.1
	AY123250.1	9	3930	AAM64254.1
	BC014366.1	7	1547	AAH14366.1
	BC150182.1	9	4663
	BC152555.1	9	4663

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2720078	Chr.2:53962225 - 55281329 on Build GRCh38	Deletion	PSME4 SPTBN1 ACYP2 RPL23AP32 RPS27A TSPYL6 MTIF2 EML6 RTN4 CLHC1 C2orf73
nsv582029	Chr.2:54931906 - 54977362 on Build GRCh38	Loss	EML6 RTN4
nsv834069	Chr.2:54869460 - 55024544 on Build GRCh38	Loss	EML6 RTN4
nsv953127	Chr.2:54970765 - 55049264 on Build GRCh38	Duplication	EML6 RTN4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
axonal fasciculation
cerebral cortex radial glia guided migration
negative regulation of cell growth
negative regulation of axon extension
regulation of apoptotic process
negative regulation of axonogenesis
nuclear pore complex assembly
cardiac epithelial to mesenchymal transition
endoplasmic reticulum tubular network organization
endoplasmic reticulum tubular network assembly
cell-cell adhesion
regulation of branching morphogenesis of a nerve

Function(s)

protein binding
poly(A) RNA binding
cadherin binding involved in cell-cell adhesion