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

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