Assay Details
Target Gene Details
Entrez Gene ID: | 284004 |
Gene Name: | hexosaminidase D |
Gene Aliases: |
- |
Location: |
Chr.17:82418376-82442645 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HEXDC | NM_173620.2 | NP_775891.2 | ||
XM_005256346.3 | XP_005256403.1 | |||
XM_005256347.4 | XP_005256404.1 | |||
XM_006722280.3 | XP_006722343.1 | |||
XM_017024484.1 | XP_016879973.1 | |||
XM_017024485.1 | XP_016879974.1 | |||
AK074405.1 | BAB85072.1 | |||
BC018205.1 | AAH18205.2 | |||
BC035561.1 | AAH35561.1 | |||
DN999062.1 | ||||
FM204887.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160502 | Chr.17:82411695 - 82526070 on Build GRCh38 | Deletion | HEXDC NARF OGFOD3 C17orf62 FOXK2 |
nsv1062980 | Chr.17:82408938 - 82687942 on Build GRCh38 | Gain | HEXDC NARF MIR4525 OGFOD3 C17orf62 RAB40B WDR45B FOXK2 |
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | MIR3186 LOC105376791 TMEM105 LOC105371925 AATK ARL16 C17orf62 DCXR MAFG-AS1 MYADML2 FASN LINC00482 C17orf89 OXLD1 OGFOD3 LOC101929552 BAHCC1 ACTG1 LOC105376790 HEXDC MIR6786 LOC101929511 TBCD SIRT7 ASPSCR1 MIR4525 LRRC45 NPLOC4 NPB LOC100130370 STRA13 MAFG TSPAN10 CD7 UTS2R TEX19 FSCN2 RAB40B GPS1 PPP1R27 NOTUM DUS1L SLC38A10 TEPSIN CCDC137 SLC25A10 CEP131 RFNG PCYT2 NARF PDE6G RAC3 MRPL12 MIR6787 SECTM1 FN3K LOC105371944 P4HB CCDC57 HGS B3GNTL1 GCGR SLC16A3 PYCR1 FAAP100 CSNK1D SNORD134 MIR4740 WDR45B ARHGDIA FN3KRP ZNF750 ALYREF AATK-AS1 MCRIP1 FOXK2 ANAPC11 |
nsv1067160 | Chr.17:82381853 - 82446450 on Build GRCh38 | Loss | LOC105376790 HEXDC OGFOD3 C17orf62 |
nsv828143 | Chr.17:82400094 - 82429642 on Build GRCh38 | Loss | HEXDC OGFOD3 |
nsv469561 | Chr.17:82251148 - 82472274 on Build GRCh38 | Loss | LOC105376790 HEXDC NARF CD7 UTS2R LOC101929511 OGFOD3 CSNK1D TEX19 C17orf62 SECTM1 |
nsv833574 | Chr.17:82419054 - 82579254 on Build GRCh38 | Gain | HEXDC NARF C17orf62 FOXK2 |
nsv1067194 | Chr.17:82294731 - 82653129 on Build GRCh38 | Gain | LOC105376790 HEXDC NARF CD7 UTS2R OGFOD3 TEX19 C17orf62 SECTM1 WDR45B FOXK2 |
esv2762577 | Chr.17:82244836 - 82838431 on Build GRCh38 | Gain+Loss | LOC105376790 LOC105376791 HEXDC CD7 UTS2R LOC101929511 CSNK1D TEX19 C17orf62 RAB40B TBCD WDR45B FN3KRP NARF MIR4525 OGFOD3 SECTM1 LOC101929552 ZNF750 FN3K FOXK2 |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | LOC105376791 C17orf62 DCXR MAFG-AS1 MYADML2 FASN OGFOD3 LOC101929552 LOC105376790 HEXDC LOC101929511 TBCD SIRT7 ASPSCR1 MIR4525 LRRC45 NPB STRA13 MAFG CD7 UTS2R TEX19 RAB40B GPS1 PPP1R27 NOTUM DUS1L RFNG PCYT2 NARF RAC3 MIR6787 SECTM1 FN3K LOC105371944 P4HB METRNL CCDC57 B3GNTL1 SLC16A3 PYCR1 CSNK1D SNORD134 WDR45B ARHGDIA FN3KRP ZNF750 ALYREF MCRIP1 FOXK2 ANAPC11 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |