Hs01019348_cn

• Gene Symbol: EME1
• Assay Reference Genome Location: Chr.17:50381242 on build GRCh38
• Cytoband: 17q21.33

Target Gene Details

• Entrez Gene ID: 146956
• Gene Name: essential meiotic structure-specific endonuclease 1
• Gene Aliases: MMS4L, SLX2A
• Location: Chr.17:50373220-50381479 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EME1	NM_001166131.1	9	2137	NP_001159603.1
	NM_152463.2	9	2098	NP_689676.2
	XM_005257081.3	9	1623	XP_005257138.1
	XM_011524395.2	9	1588	XP_011522697.1
	XM_017024236.1	8	2011	XP_016879725.1
	AK021607.1	2	1223
	AK055926.1	9	2089	BAB71047.1
	BC016470.2	8	2080	AAH16470.1

Target Gene Details

• Entrez Gene ID: 55379
• Gene Name: leucine rich repeat containing 59
• Gene Aliases: PRO1855, p34
• Location: Chr.17:50381233-50397553 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LRRC59	NM_018509.3			NP_060979.2
	AF119857.1			AAF69611.1
	AK025328.1
	BC052279.1			AAH52279.1
	BM664133.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833475	Chr.17:50219520 - 50388833 on Build GRCh38	Loss	EME1 TMEM92 XYLT2 LRRC59 TMEM92-AS1 MRPL27
nsv833476	Chr.17:50316997 - 50473985 on Build GRCh38	Loss	ACSF2 EME1 XYLT2 LRRC59 MRPL27 CHAD

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

DNA recombination
interstrand cross-link repair
response to intra-S DNA damage checkpoint signaling
nucleic acid phosphodiester bond hydrolysis
cell-cell adhesion

Function(s)

DNA binding
endodeoxyribonuclease activity
protein binding
metal ion binding
poly(A) RNA binding
cadherin binding involved in cell-cell adhesion