Assay Details
Target Gene Details
Entrez Gene ID: | 4913 |
Gene Name: | nth-like DNA glycosylase 1 |
Gene Aliases: |
FAP3, NTH1, OCTS3, hNTH1 |
Location: |
Chr.16:2039815-2047872 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NTHL1 | NM_001318193.1 | 5 | 711 | NP_001305122.1 |
NM_001318194.1 | 6 | 730 | NP_001305123.1 | |
NM_002528.6 | 6 | 882 | NP_002519.1 | |
XM_017023253.1 | 5 | 970 | XP_016878742.1 | |
AB001575.1 | 6 | 846 | BAA19413.1 | |
BC000391.2 | 6 | 839 | AAH00391.2 | |
BC003014.1 | 6 | 839 | AAH03014.1 | |
BE900738.1 | 5 | 593 | ||
BG468617.1 | 6 | 656 | ||
U79718.1 | 6 | 879 | AAB41534.1 | |
U81285.1 | 6 | 844 | AAC51136.1 | |
Y09687.1 | 6 | 833 | CAA70865.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | MIR1225 LOC100134368 MIR6767 TBL3 TMEM8A WDR90 EME2 NPW KCTD5 C1QTNF8 SOX8 TRAF7 METRN NOXO1 TSR3 RNF151 SNRNP25 PDPK1 LOC652276 TMEM204 POLR3K TPSG1 MRPL28 GNPTG HN1L SNORA64 MIR4516 WFIKKN1 SSTR5 LOC107987233 MIR5587 MAPK8IP3 RNPS1 NUBP2 AXIN1 FAM234A RAB11FIP3 E4F1 HBA1 MSLN MEIOB HBZ MIR3177 MIR3176 CCNF LOC107984876 RAB26 ERVK13-1 BRICD5 NTHL1 FBXL16 LOC105371049 C16orf91 HAGHL PTX4 CACNA1H PKD1 TBC1D24 MRPS34 ECI1 TELO2 MPG LINC00235 LOC105371045 HBA2 LOC729652 LOC106660606 LOC105371047 SSTR5-AS1 LOC100287175 RPUSD1 MIR6511B1 LMF1 AMDHD2 MIR4717 CASKIN1 NME4 NPRL3 ABCA3 FLJ42627 MIR940 MIR662 MCRIP2 ARHGDIG SNORA78 PGP CCDC78 GFER CRAMP1 JMJD8 MIR6768 PRR35 CAPN15 METTL26 CCDC154 MLST8 SNORA10 TPSAB1 UNKL FAHD1 RPL23AP5 TPSD1 TSC2 MIR6859-4 PRSS29P ABCA17P NME3 SPSB3 RHBDL1 BAIAP3 STUB1 MIR3178 DDX11L10 ATP6V0C LOC105371046 DNASE1L2 RHBDF1 FAM173A NARFL LINC00254 LMF1-AS1 WDR24 IFT140 SLC9A3R2 MIR3180-5 UBE2I MIR3677 ZNF598 RPL3L SNHG19 IGFALS PRSS27 CEMP1 RGS11 HS3ST6 HAGH LOC105371184 LUC7L CHTF18 TPSB2 NDUFB10 GNG13 NHLRC4 C16orf59 RHOT2 RAB40C DECR2 HBM LOC105371038 PIGQ WASIR2 SYNGR3 PRR25 PDIA2 MSRB1 NTN3 SNORD60 HBQ1 SNHG9 RPS2 CLCN7 LOC101929280 |
nsv471072 | Chr.16:1971892 - 2317508 on Build GRCh38 | Loss | MIR1225 SNHG19 TBL3 MLST8 NPW RAB26 BRICD5 NTHL1 TRAF7 LOC105371049 NOXO1 TSC2 PKD1 ECI1 MIR4516 LOC106660606 MIR6511B1 SYNGR3 DNASE1L2 MIR4717 CASKIN1 SNORD60 ABCA3 MIR940 RNPS1 SLC9A3R2 E4F1 MIR3180-5 PGP GFER MIR3677 ZNF598 |
nsv952901 | Chr.16:1888800 - 2135899 on Build GRCh38 | Deletion | SNORA64 RPL3L MIR4516 MIR1225 TBL3 MIR6511B1 SYNGR3 NPW SNORA10 MSRB1 NTHL1 LOC105371049 NOXO1 TSC2 HS3ST6 RNF151 PKD1 NDUFB10 SLC9A3R2 SNHG9 SNORA78 RPS2 GFER ZNF598 |
nsv1160329 | Chr.16:1961727 - 2128574 on Build GRCh38 | Deletion | SNORA64 MIR1225 TBL3 MIR6511B1 SYNGR3 NPW SNORA10 NTHL1 LOC105371049 NOXO1 TSC2 RNF151 PKD1 NDUFB10 SLC9A3R2 SNHG9 SNORA78 RPS2 GFER ZNF598 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |