Assay Details
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 | 663 | NP_001258677.1 |
NM_014481.3 | 6 | 844 | NP_055296.2 | |
AB021260.1 | 6 | 804 | BAA78422.1 | |
AB049211.1 | 6 | 767 | BAB13764.1 | |
AF119046.1 | 6 | 810 | AAD43041.1 | |
AJ011311.1 | 6 | 810 | CAB45242.1 | |
AK301555.1 | 5 | 618 | ||
AK316186.1 | 5 | 616 | ||
BC002959.1 | 6 | 782 | 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 | SNORA109 MIR6895 SMC1A KANTR MIR6894 SNORA11 USP51 MTRNR2L10 PAGE2 GPR173 WNK3 PAGE2B MAGED2 ITIH6 KDM5C GNL3L TSPYL2 FGD1 MIR6857 PHF8 FAM156B XAGE3 FAM120C FAM104B PFKFB1 MAGEH1 APEX2 MIR98 MIR4536-2 TSR2 HUWE1 IQSEC2 LOC100421746 MIR4536-1 HSD17B10 FOXR2 FAM156A TRO PAGE5 PAGE3 MIRLET7F2 RIBC1 ALAS2 |
esv3573984 | Chr.X:54997314 - 55007120 on Build GRCh38 | Loss | PFKFB1 APEX2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | SNORA109 MIR6895 SMC1A KANTR MIR6894 SNORA11 USP51 MTRNR2L10 PAGE2 GPR173 WNK3 PAGE2B MAGED2 ITIH6 KDM5C GNL3L TSPYL2 FGD1 MIR6857 PHF8 FAM156B XAGE3 FAM120C FAM104B PFKFB1 MAGEH1 APEX2 MIR98 MIR4536-2 TSR2 HUWE1 IQSEC2 LOC100421746 MIR4536-1 HSD17B10 FOXR2 FAM156A TRO PAGE5 PAGE3 MIRLET7F2 RIBC1 ALAS2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |