Hs03956195_cn

• Gene Symbol: HEXDC
• Assay Reference Genome Location: Chr.17:82432096 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 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	FOXK2 OGFOD3 NARF HEXDC C17orf62
nsv1062980	Chr.17:82408938 - 82687942 on Build GRCh38	Gain	FOXK2 OGFOD3 WDR45B NARF RAB40B MIR4525 HEXDC C17orf62
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	ANAPC11 MAFG-AS1 LOC105376790 SLC16A3 PYCR1 LOC105376791 FSCN2 FOXK2 TEPSIN AATK-AS1 LOC101929511 MRPL12 UTS2R DCXR HGS P4HB TSPAN10 TEX19 TBCD FN3KRP NPB ALYREF SLC25A10 B3GNTL1 NOTUM DUS1L CEP131 STRA13 FN3K HEXDC PDE6G OGFOD3 RAB40B MAFG LOC105371925 GCGR LOC101929552 TMEM105 OXLD1 FAAP100 MIR6787 RAC3 FASN NPLOC4 ARL16 MIR4740 CCDC137 NARF CD7 MIR6786 MYADML2 LOC105371944 AATK RFNG SNORD134 CCDC57 ASPSCR1 WDR45B MCRIP1 GPS1 C17orf62 CSNK1D LRRC45 BAHCC1 LINC00482 SECTM1 ARHGDIA LOC100130370 PCYT2 SLC38A10 C17orf89 SIRT7 ACTG1 MIR4525 PPP1R27 ZNF750 MIR3186
nsv1067160	Chr.17:82381853 - 82446450 on Build GRCh38	Loss	OGFOD3 LOC105376790 HEXDC C17orf62
nsv469561	Chr.17:82251148 - 82472274 on Build GRCh38	Loss	CSNK1D TEX19 SECTM1 OGFOD3 LOC101929511 NARF CD7 UTS2R LOC105376790 HEXDC C17orf62
nsv833574	Chr.17:82419054 - 82579254 on Build GRCh38	Gain	FOXK2 NARF HEXDC C17orf62
nsv1067194	Chr.17:82294731 - 82653129 on Build GRCh38	Gain	FOXK2 TEX19 SECTM1 OGFOD3 WDR45B NARF CD7 UTS2R LOC105376790 HEXDC C17orf62
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	TEX19 OGFOD3 TBCD WDR45B FN3KRP RAB40B LOC105376790 LOC101929552 C17orf62 CSNK1D LOC105376791 FOXK2 SECTM1 LOC101929511 NARF CD7 UTS2R MIR4525 FN3K ZNF750 HEXDC
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	ANAPC11 MAFG-AS1 LOC105376790 SLC16A3 PYCR1 LOC105376791 FOXK2 LOC101929511 UTS2R DCXR P4HB TEX19 TBCD FN3KRP NPB ALYREF B3GNTL1 NOTUM DUS1L STRA13 FN3K HEXDC OGFOD3 RAB40B MAFG LOC101929552 MIR6787 RAC3 FASN NARF CD7 MYADML2 LOC105371944 RFNG SNORD134 CCDC57 ASPSCR1 WDR45B MCRIP1 GPS1 C17orf62 CSNK1D LRRC45 SECTM1 ARHGDIA PCYT2 SIRT7 MIR4525 PPP1R27 ZNF750 METRNL

More Information

Additional Information:

For this assay, SNP(s) [rs111485281] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process

Function(s)

beta-N-acetylhexosaminidase activity
hexosaminidase activity