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 2 - Exon 3 |
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_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 | |||
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 | OGFOD3 HEXDC NARF C17orf62 FOXK2 |
nsv1062980 | Chr.17:82408938 - 82687942 on Build GRCh38 | Gain | RAB40B MIR4525 OGFOD3 WDR45B HEXDC NARF C17orf62 FOXK2 |
nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain | SIRT7 MAFG GCGR ARHGDIA MYADML2 TBCD FN3KRP UTS2R HEXDC MIR6787 FAAP100 TEPSIN RFNG MRPL12 NPLOC4 P4HB LOC105376791 TSPAN10 SLC38A10 RAC3 DCXR MIR4740 SECTM1 CSNK1D LOC105371925 GPS1 STRA13 AATK PYCR1 LOC105376790 CD7 C17orf89 NARF HGS LOC100130370 TEX19 RAB40B MAFG-AS1 BAHCC1 DUS1L SLC16A3 PCYT2 OXLD1 ANAPC11 FOXK2 NOTUM PPP1R27 AATK-AS1 LINC00482 MCRIP1 LOC105371944 TMEM105 CCDC57 OGFOD3 WDR45B C17orf62 ARL16 CCDC137 ALYREF MIR3186 FSCN2 SLC25A10 LOC101929511 PDE6G B3GNTL1 MIR4525 ZNF750 ACTG1 LRRC45 SNORD134 ASPSCR1 CEP131 LOC101929552 NPB FN3K MIR6786 FASN |
nsv1067160 | Chr.17:82381853 - 82446450 on Build GRCh38 | Loss | LOC105376790 OGFOD3 HEXDC C17orf62 |
nsv828143 | Chr.17:82400094 - 82429642 on Build GRCh38 | Loss | OGFOD3 HEXDC |
nsv469561 | Chr.17:82251148 - 82472274 on Build GRCh38 | Loss | SECTM1 CSNK1D TEX19 LOC101929511 LOC105376790 UTS2R OGFOD3 HEXDC CD7 NARF C17orf62 |
nsv833574 | Chr.17:82419054 - 82579254 on Build GRCh38 | Gain | HEXDC NARF C17orf62 FOXK2 |
nsv1067194 | Chr.17:82294731 - 82653129 on Build GRCh38 | Gain | SECTM1 TEX19 LOC105376790 UTS2R OGFOD3 WDR45B HEXDC CD7 NARF C17orf62 FOXK2 |
esv2762577 | Chr.17:82244836 - 82838431 on Build GRCh38 | Gain+Loss | SECTM1 CSNK1D TBCD LOC101929511 FN3KRP LOC105376790 MIR4525 ZNF750 UTS2R HEXDC CD7 NARF TEX19 LOC105376791 RAB40B LOC101929552 OGFOD3 WDR45B FN3K C17orf62 FOXK2 |
esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss | SIRT7 MAFG ARHGDIA MYADML2 TBCD FN3KRP UTS2R HEXDC MIR6787 RFNG P4HB LOC105376791 RAC3 DCXR SECTM1 CSNK1D GPS1 STRA13 PYCR1 LOC105376790 CD7 NARF TEX19 RAB40B MAFG-AS1 DUS1L SLC16A3 PCYT2 ANAPC11 FOXK2 METRNL NOTUM PPP1R27 MCRIP1 LOC105371944 CCDC57 OGFOD3 WDR45B C17orf62 ALYREF LOC101929511 B3GNTL1 MIR4525 ZNF750 LRRC45 SNORD134 ASPSCR1 LOC101929552 NPB FN3K FASN |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |