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
esv2760445	Chr.17:82267669 - 82421456 on Build GRCh38	Gain	HEXDC LOC101929511 CSNK1D SECTM1 LOC105376790 CD7 UTS2R OGFOD3 TEX19
nsv1160502	Chr.17:82411695 - 82526070 on Build GRCh38	Deletion	FOXK2 HEXDC OGFOD3 C17orf62 NARF
nsv1062980	Chr.17:82408938 - 82687942 on Build GRCh38	Gain	FOXK2 HEXDC RAB40B WDR45B OGFOD3 C17orf62 NARF MIR4525
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	SECTM1 LRRC45 BAHCC1 FSCN2 WDR45B C17orf62 P4HB NPLOC4 MIR6787 MCRIP1 MIR6786 TMEM105 CEP131 GPS1 ANAPC11 ZNF750 AATK-AS1 UTS2R MYADML2 AATK SIRT7 ARHGDIA NARF C17orf89 PPP1R27 B3GNTL1 GCGR RFNG SNORD134 FOXK2 LOC101929511 CSNK1D CCDC57 MRPL12 RAB40B LOC105376791 ACTG1 SLC25A10 HEXDC SLC38A10 LOC105371944 LOC105376790 LOC105371925 PCYT2 FN3K NOTUM FN3KRP TEX19 ARL16 MIR3186 FAAP100 MAFG PDE6G CD7 OGFOD3 LOC101929552 CCDC137 SLC16A3 HGS MAFG-AS1 MIR4525 ALYREF NPB TSPAN10 LINC00482 MIR4740 OXLD1 DUS1L LOC100130370 FASN ASPSCR1 STRA13 PYCR1 TBCD RAC3 TEPSIN DCXR
nsv1067160	Chr.17:82381853 - 82446450 on Build GRCh38	Loss	HEXDC LOC105376790 OGFOD3 C17orf62
nsv828143	Chr.17:82400094 - 82429642 on Build GRCh38	Loss	HEXDC OGFOD3
nsv469561	Chr.17:82251148 - 82472274 on Build GRCh38	Loss	HEXDC LOC101929511 CSNK1D SECTM1 LOC105376790 CD7 UTS2R OGFOD3 C17orf62 NARF TEX19
nsv833574	Chr.17:82419054 - 82579254 on Build GRCh38	Gain	FOXK2 HEXDC C17orf62 NARF
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	SECTM1 LRRC45 WDR45B C17orf62 P4HB MIR6787 MCRIP1 GPS1 ANAPC11 ZNF750 UTS2R MYADML2 SIRT7 ARHGDIA NARF PPP1R27 B3GNTL1 RFNG SNORD134 METRNL FOXK2 LOC101929511 CSNK1D CCDC57 RAB40B LOC105376791 HEXDC LOC105371944 LOC105376790 PCYT2 FN3K NOTUM FN3KRP TEX19 MAFG CD7 OGFOD3 LOC101929552 SLC16A3 MAFG-AS1 MIR4525 ALYREF NPB DUS1L FASN ASPSCR1 STRA13 PYCR1 TBCD RAC3 DCXR
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	HEXDC SECTM1 LOC105376790 WDR45B C17orf62 FN3K FN3KRP TEX19 FOXK2 LOC101929511 CSNK1D ZNF750 CD7 UTS2R TBCD RAB40B OGFOD3 LOC101929552 LOC105376791 NARF MIR4525
nsv1067194	Chr.17:82294731 - 82653129 on Build GRCh38	Gain	FOXK2 HEXDC SECTM1 LOC105376790 CD7 UTS2R WDR45B OGFOD3 C17orf62 NARF TEX19

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