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: | Overlaps Intron 5 - Intron 6 |
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_011523560.2 | XP_011521862.1 | |||
XM_011523561.2 | XP_011521863.1 | |||
XM_017024484.1 | XP_016879973.1 | |||
XM_017024485.1 | XP_016879974.1 | |||
AK074405.1 | BAB85072.1 | |||
BC018205.1 | AAH18205.2 | |||
BC035561.1 | AAH35561.1 | |||
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 | OGFOD3 HEXDC NARF C17orf62 FOXK2 |
nsv1062980 | Chr.17:82408938 - 82687942 on Build GRCh38 | Gain | MIR4525 OGFOD3 WDR45B HEXDC NARF RAB40B C17orf62 FOXK2 |
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | ZNF750 MYADML2 MIR3186 GPS1 HEXDC ACTG1 RAB40B LINC00482 PCYT2 AATK-AS1 ASPSCR1 SLC25A10 SECTM1 NPB UTS2R ALYREF MRPL12 CEP131 CD7 TEPSIN MIR6786 TMEM105 P4HB MAFG AATK RAC3 CSNK1D MAFG-AS1 FASN MIR6787 LRRC45 DUS1L MIR4525 NOTUM WDR45B FSCN2 FN3K LOC105371944 C17orf62 LOC100130370 MCRIP1 TBCD ARHGDIA LOC101929511 LOC105371925 OXLD1 C17orf89 SLC16A3 LOC105376790 BAHCC1 LOC105376791 NARF TEX19 MIR4740 STRA13 FAAP100 DCXR PPP1R27 OGFOD3 CCDC137 TSPAN10 SIRT7 CCDC57 SLC38A10 RFNG HGS FN3KRP NPLOC4 SNORD134 ANAPC11 GCGR ARL16 PYCR1 LOC101929552 PDE6G FOXK2 B3GNTL1 |
nsv1067160 | Chr.17:82381853 - 82446450 on Build GRCh38 | Loss | OGFOD3 HEXDC LOC105376790 C17orf62 |
nsv828143 | Chr.17:82400094 - 82429642 on Build GRCh38 | Loss | OGFOD3 HEXDC |
nsv469561 | Chr.17:82251148 - 82472274 on Build GRCh38 | Loss | SECTM1 UTS2R OGFOD3 CSNK1D HEXDC LOC105376790 NARF TEX19 LOC101929511 C17orf62 CD7 |
nsv833574 | Chr.17:82419054 - 82579254 on Build GRCh38 | Gain | HEXDC NARF C17orf62 FOXK2 |
nsv1067194 | Chr.17:82294731 - 82653129 on Build GRCh38 | Gain | SECTM1 UTS2R OGFOD3 WDR45B HEXDC LOC105376790 NARF TEX19 C17orf62 FOXK2 CD7 |
esv2762577 | Chr.17:82244836 - 82838431 on Build GRCh38 | Gain+Loss | ZNF750 TBCD OGFOD3 CSNK1D HEXDC LOC101929511 RAB40B FN3KRP SECTM1 MIR4525 UTS2R WDR45B LOC105376790 LOC105376791 NARF TEX19 FN3K C17orf62 LOC101929552 FOXK2 CD7 |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | ZNF750 MYADML2 METRNL GPS1 HEXDC RAB40B PCYT2 ASPSCR1 SECTM1 NPB UTS2R ALYREF CD7 P4HB MAFG RAC3 CSNK1D MAFG-AS1 FASN MIR6787 LRRC45 DUS1L MIR4525 NOTUM WDR45B FN3K LOC105371944 C17orf62 MCRIP1 TBCD ARHGDIA LOC101929511 SLC16A3 LOC105376790 LOC105376791 NARF TEX19 STRA13 DCXR PPP1R27 OGFOD3 SIRT7 CCDC57 RFNG FN3KRP SNORD134 ANAPC11 PYCR1 LOC101929552 FOXK2 B3GNTL1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |