Assay Details
Target Gene Details
Entrez Gene ID: | 51005 |
Gene Name: | amidohydrolase domain containing 2 |
Gene Aliases: |
CGI-14 |
Location: |
Chr.16:2520351-2531414 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AMDHD2 | XM_017023262.1 | 11 | 3112 | XP_016878751.1 |
XM_017023263.1 | 9 | 3100 | XP_016878752.1 | |
XM_017023264.1 | 10 | 3043 | XP_016878753.1 | |
XM_017023265.1 | 10 | 3010 | XP_016878754.1 | |
XM_017023266.1 | 10 | 3058 | XP_016878755.1 | |
XM_017023267.1 | 9 | 3054 | XP_016878756.1 |
Target Gene Details
Entrez Gene ID: | 752014 |
Gene Name: | cementum protein 1 |
Gene Aliases: |
CP-23, CP23 |
Location: |
Chr.16:2530035-2531408 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CEMP1 | NM_001048212.3 | 1 | 72 | NP_001041677.1 |
AY584596.1 | 1 | 72 | AAT01221.1 | |
BC146925.1 | ||||
BC146926.1 | ||||
BM681118.1 | 1 | 93 |
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 | GNG13 E4F1 MIR6511B1 LOC100134368 LMF1-AS1 AXIN1 PRSS27 LOC101929280 MRPS34 LOC100287175 SNRNP25 MRPL28 RPL3L TPSD1 SPSB3 CRAMP1 FLJ42627 MIR4516 BRICD5 AMDHD2 LOC107984876 CLCN7 NHLRC4 DDX11L10 PTX4 WASIR2 FAM173A SNORD60 LMF1 SSTR5-AS1 TMEM204 RAB40C HBZ HS3ST6 LOC729652 SNORA64 NUBP2 WFIKKN1 METTL26 RNF151 TSC2 MIR6859-4 NOXO1 IGFALS PRR25 MIR662 FBXL16 RHOT2 UNKL PKD1 MLST8 SNHG19 CEMP1 LINC00254 LOC105371047 NPW SSTR5 MIR5587 PIGQ KCTD5 CAPN15 TBL3 NDUFB10 TBC1D24 LOC105371184 TRAF7 POLR3K HN1L ARHGDIG CHTF18 HAGHL LOC107987233 TPSG1 LINC00235 MEIOB EME2 MSRB1 SNHG9 IFT140 CASKIN1 HBA2 MIR3176 RHBDL1 RPS2 GFER CCDC78 MSLN METRN NME4 MIR4717 ECI1 MIR6767 NPRL3 RAB11FIP3 SNORA78 LUC7L CCDC154 PGP BAIAP3 STUB1 ABCA17P WDR90 GNPTG PDIA2 HAGH MIR3178 SNORA10 SLC9A3R2 MIR940 HBM MIR3677 WDR24 LOC105371038 TMEM8A MIR3180-5 ATP6V0C TELO2 LOC105371045 HBA1 ABCA3 PRR35 FAHD1 TPSAB1 ERVK13-1 C1QTNF8 UBE2I C16orf91 CACNA1H NME3 MIR1225 RHBDF1 JMJD8 NTHL1 C16orf59 SYNGR3 RGS11 RPUSD1 FAM234A DECR2 NARFL SOX8 LOC105371049 PRSS29P RNPS1 MPG TSR3 ZNF598 MIR6768 RAB26 DNASE1L2 MIR3177 LOC105371046 RPL23AP5 CCNF LOC652276 NTN3 TPSB2 MAPK8IP3 HBQ1 LOC106660606 MCRIP2 PDPK1 |
esv2760067 | Chr.16:2486824 - 2820535 on Build GRCh38 | Gain+Loss | PRSS21 PRSS41 TBC1D24 PRSS33 TCEB2 PRSS27 ERVK13-1 MIR3178 CEMP1 SRRM2-AS1 LOC652276 SRRM2 FLJ42627 ATP6V0C AMDHD2 PDPK1 KCTD5 |
nsv833122 | Chr.16:2501717 - 2663937 on Build GRCh38 | Loss | CEMP1 TBC1D24 LOC652276 ERVK13-1 MIR3178 FLJ42627 ATP6V0C AMDHD2 PDPK1 |
nsv1052260 | Chr.16:2074546 - 2629655 on Build GRCh38 | Gain | CASKIN1 E4F1 ABCA3 MIR6511B1 PKD1 MIR4717 MLST8 SNHG19 ECI1 MIR6767 MIR1225 CEMP1 C16orf59 MIR4516 BRICD5 AMDHD2 PGP ABCA17P TBC1D24 TRAF7 MIR3178 SNORD60 LOC105371049 RNPS1 MIR940 MIR6768 RAB26 DNASE1L2 MIR3677 CCNF LOC729652 LOC652276 NTN3 MIR3180-5 ATP6V0C LOC106660606 PDPK1 TSC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |