Hs03966590_cn

• Gene Symbol: HEXDC
• Assay Reference Genome Location: Chr.17:82422663 on build GRCh38
• Cytoband: 17q25.3

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

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process

Function(s)

beta-N-acetylhexosaminidase activity
hexosaminidase activity