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 | 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 |