Hs01351881_cn

• Gene Symbol: C17orf62
• Assay Reference Genome Location: Chr.17:82442582 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 79415
• Gene Name: chromosome 17 open reading frame 62
• Gene Aliases: -
• Location: Chr.17:82442586-82450831 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C17orf62	NM_001033046.3			NP_001028218.1
	NM_001100407.2			NP_001093877.1
	NM_001100408.2			NP_001093878.1
	NM_001193653.1			NP_001180582.1
	NM_001193654.1			NP_001180583.1
	NM_001193655.1			NP_001180584.1
	NM_001193657.1			NP_001180586.1
	NR_036514.1
	NR_036516.1
	NR_036517.1
	NR_036518.1
	XM_006722293.2			XP_006722356.1
	XM_011523606.2			XP_011521908.1
	XM_017025072.1			XP_016880561.1
	XM_017025073.1			XP_016880562.1
	XM_017025074.1			XP_016880563.1
	XM_017025075.1			XP_016880564.1
	XM_017025076.1			XP_016880565.1
	XM_017025077.1			XP_016880566.1
	XM_017025078.1			XP_016880567.1
	AF269290.1			AAG23173.1
	AK027743.1			BAB55335.1
	AK225389.1
	BC003595.1			AAH03595.1
	BC004171.2			AAH04171.1
	BU734211.1

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 Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HEXDC	NM_173620.2			NP_775891.2
	XM_005256346.3	11	1752	XP_005256403.1
	XM_005256347.4	13	1799	XP_005256404.1
	XM_006722280.3	11	1727	XP_006722343.1
	XM_011523560.2	10	1695	XP_011521862.1
	XM_011523561.2	11	1733	XP_011521863.1
	XM_017024484.1	13	1855	XP_016879973.1
	XM_017024485.1	12	1663	XP_016879974.1
	AK074405.1	12	1638	BAB85072.1
	AK295197.1
	BC018205.1			AAH18205.2
	BC035561.1			AAH35561.1

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
esv3641424	Chr.17:82434625 - 82462586 on Build GRCh38	Gain	NARF HEXDC C17orf62
nsv1062980	Chr.17:82408938 - 82687942 on Build GRCh38	Gain	FOXK2 MIR4525 OGFOD3 WDR45B NARF HEXDC RAB40B C17orf62
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	NPB LOC105371925 DUS1L MIR6786 AATK-AS1 SIRT7 MCRIP1 SLC25A10 NOTUM MRPL12 LRRC45 C17orf62 MIR4525 TBCD OGFOD3 ASPSCR1 C17orf89 TEPSIN RAB40B CEP131 LOC101929511 MAFG-AS1 DCXR OXLD1 FSCN2 ARL16 ANAPC11 NARF STRA13 TSPAN10 FASN LOC105376790 PPP1R27 MIR6787 B3GNTL1 PCYT2 MIR4740 TEX19 P4HB ALYREF RFNG CCDC57 NPLOC4 MAFG HEXDC AATK MIR3186 GPS1 LOC105371944 LOC101929552 FAAP100 SLC16A3 CD7 LOC105376791 MYADML2 PDE6G SLC38A10 TMEM105 BAHCC1 FOXK2 LOC100130370 FN3K GCGR FN3KRP WDR45B SNORD134 CCDC137 CSNK1D ARHGDIA HGS SECTM1 PYCR1 ACTG1 UTS2R RAC3 ZNF750 LINC00482
nsv1067160	Chr.17:82381853 - 82446450 on Build GRCh38	Loss	LOC105376790 OGFOD3 HEXDC C17orf62
nsv469561	Chr.17:82251148 - 82472274 on Build GRCh38	Loss	LOC105376790 LOC101929511 CD7 OGFOD3 SECTM1 TEX19 UTS2R NARF CSNK1D HEXDC C17orf62
nsv833574	Chr.17:82419054 - 82579254 on Build GRCh38	Gain	FOXK2 NARF HEXDC C17orf62
nsv1067194	Chr.17:82294731 - 82653129 on Build GRCh38	Gain	LOC105376790 FOXK2 CD7 OGFOD3 SECTM1 TEX19 WDR45B UTS2R NARF HEXDC C17orf62
esv2762577	Chr.17:82244836 - 82838431 on Build GRCh38	Gain+Loss	FOXK2 LOC101929511 FN3K FN3KRP WDR45B LOC101929552 NARF CSNK1D C17orf62 LOC105376790 MIR4525 TBCD CD7 OGFOD3 SECTM1 TEX19 LOC105376791 UTS2R ZNF750 HEXDC RAB40B
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	NPB DUS1L SIRT7 MCRIP1 NOTUM LRRC45 C17orf62 MIR4525 TBCD OGFOD3 ASPSCR1 RAB40B LOC101929511 MAFG-AS1 DCXR ANAPC11 NARF STRA13 FASN LOC105376790 PPP1R27 METRNL MIR6787 B3GNTL1 PCYT2 TEX19 P4HB ALYREF RFNG CCDC57 MAFG HEXDC GPS1 LOC105371944 LOC101929552 SLC16A3 CD7 LOC105376791 MYADML2 FOXK2 FN3K FN3KRP WDR45B SNORD134 CSNK1D ARHGDIA SECTM1 PYCR1 UTS2R RAC3 ZNF750

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process

Function(s)

protein binding
beta-N-acetylhexosaminidase activity
hexosaminidase activity