Assay Details
Target Gene Details
Entrez Gene ID: | 377841 |
Gene Name: | ectonucleoside triphosphate diphosphohydrolase 8 |
Gene Aliases: |
E-NTPDase, GLSR2492, NTPDase-8, UNQ2492 |
Location: |
Chr.9:137434364-137441710 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ENTPD8 | NM_001033113.1 | 4 | 465 | NP_001028285.1 |
NM_198585.2 | 4 | 465 | NP_940987.2 | |
XM_011518665.2 | 5 | 771 | XP_011516967.1 | |
XM_011518666.2 | 5 | 781 | XP_011516968.1 | |
XM_011518668.1 | 2 | 126 | XP_011516970.1 | |
AY359088.1 | 4 | 465 | AAQ89446.1 | |
AY430414.1 | 3 | 298 | AAR04374.1 | |
AY903953.1 | 3 | 281 | AAW83515.1 | |
AY903954.1 | 3 | 281 | AAW83516.1 | |
BC141810.1 | 4 | 366 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv616021 | Chr.9:137434689 - 137452821 on Build GRCh38 | Loss | ENTPD8 NSMF MIR7114 |
nsv1049808 | Chr.9:137356366 - 137438026 on Build GRCh38 | Gain | EXD3 ENTPD8 NOXA1 |
nsv951208 | Chr.9:137379349 - 137467948 on Build GRCh38 | Deletion | PNPLA7 EXD3 ENTPD8 NSMF MIR7114 NOXA1 |
nsv6771 | Chr.9:137412670 - 137444666 on Build GRCh38 | Insertion | EXD3 ENTPD8 NOXA1 |
esv2759721 | Chr.9:137303332 - 137447299 on Build GRCh38 | Loss | EXD3 ENTPD8 NOXA1 |
nsv524322 | Chr.9:136795692 - 137482216 on Build GRCh38 | Loss | FUT7 MAMDC4 C9orf172 LCNL1 SAPCD2 LOC101930307 PNPLA7 EXD3 STPG3 LCN12 RNF208 FAM166A NRARP CYSRT1 NELFB GRIN1 SLC34A3 EDF1 C9orf142 RABL6 ENTPD8 TRAF2 PRR31 MAN1B1-AS1 CCDC183-AS1 CLIC3 CCDC183 NDOR1 ENTPD2 MIR4479 NPDC1 RNF224 ABCA2 PTGDS TUBB4B MIR4292 TMEM203 NSMF SSNA1 UAP1L1 C9orf139 NOXA1 MIR3621 PHPT1 TMEM210 TOR4A MAN1B1 DPP7 LRRC26 TPRN FBXW5 C9orf173-AS1 C8G ANAPC2 MIR7114 |
esv3622034 | Chr.9:137433077 - 137439026 on Build GRCh38 | Gain | ENTPD8 NOXA1 |
nsv1161918 | Chr.9:137118319 - 137438026 on Build GRCh38 | Duplication | MIR3621 RNF224 TUBB4B NELFB GRIN1 TMEM210 SLC34A3 TMEM203 TOR4A SSNA1 EXD3 LRRC26 TPRN STPG3 RNF208 C9orf173-AS1 ENTPD8 FAM166A NRARP CYSRT1 NDOR1 ANAPC2 NOXA1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |