Hs02513282_cn

• Gene Symbol: HEXDC
• Assay Reference Genome Location: Chr.17:82419929 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	C17orf62 OGFOD3 HEXDC NARF FOXK2
esv2760445	Chr.17:82267669 - 82421456 on Build GRCh38	Gain	UTS2R OGFOD3 HEXDC CD7 LOC105376790 CSNK1D SECTM1 TEX19 LOC101929511
nsv1062980	Chr.17:82408938 - 82687942 on Build GRCh38	Gain	C17orf62 WDR45B OGFOD3 HEXDC NARF RAB40B FOXK2 MIR4525
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	LOC105376791 ANAPC11 TMEM105 MIR6786 BAHCC1 MIR3186 C17orf89 RAB40B PPP1R27 ARL16 CCDC137 LOC105376790 SECTM1 ACTG1 LINC00482 GCGR LOC101929511 TEPSIN ZNF750 WDR45B SLC16A3 OGFOD3 NPLOC4 CEP131 LOC101929552 LRRC45 ASPSCR1 NARF MRPL12 OXLD1 P4HB SLC38A10 MIR4525 TEX19 LOC105371944 RAC3 FSCN2 MIR6787 C17orf62 AATK MIR4740 NPB CD7 MYADML2 TSPAN10 CSNK1D STRA13 SIRT7 LOC105371925 ALYREF FN3KRP DUS1L NOTUM TBCD PYCR1 PDE6G B3GNTL1 AATK-AS1 RFNG PCYT2 FOXK2 CCDC57 ARHGDIA UTS2R DCXR GPS1 FN3K SLC25A10 HEXDC FASN MCRIP1 FAAP100 MAFG-AS1 LOC100130370 MAFG SNORD134 HGS
nsv1067160	Chr.17:82381853 - 82446450 on Build GRCh38	Loss	C17orf62 OGFOD3 HEXDC LOC105376790
nsv828143	Chr.17:82400094 - 82429642 on Build GRCh38	Loss	OGFOD3 HEXDC
nsv469561	Chr.17:82251148 - 82472274 on Build GRCh38	Loss	C17orf62 UTS2R OGFOD3 HEXDC NARF CD7 LOC105376790 CSNK1D SECTM1 TEX19 LOC101929511
nsv833574	Chr.17:82419054 - 82579254 on Build GRCh38	Gain	C17orf62 HEXDC NARF FOXK2
nsv1067194	Chr.17:82294731 - 82653129 on Build GRCh38	Gain	C17orf62 UTS2R WDR45B OGFOD3 HEXDC NARF CD7 LOC105376790 SECTM1 FOXK2 TEX19
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	LOC105376791 C17orf62 UTS2R FN3K HEXDC NARF RAB40B CD7 LOC105376790 CSNK1D FN3KRP SECTM1 MIR4525 TEX19 LOC101929511 ZNF750 TBCD WDR45B OGFOD3 LOC101929552 FOXK2
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	LOC105376791 ANAPC11 RAB40B PPP1R27 LOC105376790 SECTM1 LOC101929511 ZNF750 WDR45B SLC16A3 OGFOD3 LOC101929552 LRRC45 ASPSCR1 NARF P4HB MIR4525 TEX19 LOC105371944 RAC3 MIR6787 C17orf62 NPB CD7 MYADML2 CSNK1D STRA13 SIRT7 ALYREF FN3KRP DUS1L NOTUM TBCD PYCR1 B3GNTL1 RFNG PCYT2 FOXK2 CCDC57 ARHGDIA UTS2R DCXR GPS1 FN3K HEXDC FASN MCRIP1 METRNL MAFG-AS1 MAFG SNORD134

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