Hs02661468_cn

• Gene Symbol: APEX2
• Assay Reference Genome Location: Chr.X:55006896 on build GRCh38
• Cytoband: Xp11.21

Target Gene Details

• Entrez Gene ID: 27301
• Gene Name: apurinic/apyrimidinic endodeoxyribonuclease 2
• Gene Aliases: APE2, APEXL2, XTH2, ZGRF2
• Location: Chr.X:55000323-55007873 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APEX2	NM_001271748.1	5	937	NP_001258677.1
	NM_014481.3	6	1118	NP_055296.2
	AB021260.1	6	1078	BAA78422.1
	AB049211.1	6	1041	BAB13764.1
	AF119046.1	6	1084	AAD43041.1
	AJ011311.1	6	1084	CAB45242.1
	AK301555.1	5	892
	AK316186.1	5	890
	BC002959.1	6	1056	AAH02959.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2740175	Chr.X:52862926 - 55652533 on Build GRCh38	Deletion	MIRLET7F2 TSPYL2 MIR98 KDM5C SNORA11 USP51 IQSEC2 TRO FGD1 MIR6895 WNK3 HUWE1 PFKFB1 TSR2 RIBC1 FAM104B HSD17B10 MIR4536-2 FOXR2 GNL3L MTRNR2L10 PAGE2B PHF8 FAM156A MIR6857 FAM156B MAGEH1 FAM120C KANTR GPR173 XAGE3 PAGE3 MIR4536-1 SNORA109 MIR6894 PAGE5 MAGED2 ITIH6 ALAS2 LOC100421746 PAGE2 APEX2 SMC1A
esv3573984	Chr.X:54997314 - 55007120 on Build GRCh38	Loss	APEX2 PFKFB1
nsv435891	Chr.X:52861979 - 55653313 on Build GRCh38	Deletion	MIRLET7F2 TSPYL2 MIR98 KDM5C SNORA11 USP51 IQSEC2 TRO FGD1 MIR6895 WNK3 HUWE1 PFKFB1 TSR2 RIBC1 FAM104B HSD17B10 MIR4536-2 FOXR2 GNL3L MTRNR2L10 PAGE2B PHF8 FAM156A MIR6857 FAM156B MAGEH1 FAM120C KANTR GPR173 XAGE3 PAGE3 MIR4536-1 SNORA109 MIR6894 PAGE5 MAGED2 ITIH6 ALAS2 LOC100421746 PAGE2 APEX2 SMC1A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

base-excision repair
DNA recombination
cell cycle
nucleic acid phosphodiester bond hydrolysis

Function(s)

DNA binding
DNA-(apurinic or apyrimidinic site) lyase activity
zinc ion binding
double-stranded DNA 3'-5' exodeoxyribonuclease activity