Hs02675754_cn

• Gene Symbol: HPS5
• Assay Reference Genome Location: Chr.11:18295009 on build GRCh38
• Cytoband: 11p15.1

Target Gene Details

• Entrez Gene ID: 11234
• Gene Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
• Gene Aliases: AIBP63, BLOC2S2
• Location: Chr.11:18278670-18322498 on Build GRCh38
• Assay Gene Location: Overlaps Intron 14 - Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPS5	NM_007216.3			NP_009147.3
	NM_181507.1			NP_852608.1
	NM_181508.1			NP_852609.1
	XM_011519862.1			XP_011518164.1
	XM_011519863.1			XP_011518165.1
	XM_011519864.1			XP_011518166.1
	XM_011519865.1			XP_011518167.1
	XM_011519866.1			XP_011518168.1
	XM_011519867.1			XP_011518169.1
	XM_011519868.2			XP_011518170.1
	XM_017017149.1			XP_016872638.1
	XM_017017150.1			XP_016872639.1
	XM_017017151.1			XP_016872640.1
	XM_017017152.1			XP_016872641.1
	XM_017017153.1			XP_016872642.1
	XM_017017154.1			XP_016872643.1
	AB023234.1
	AF534400.1			AAO25962.1
	AF534401.1			AAO25963.1
	AF534402.1			AAO25964.1
	AJ131721.1			CAB38232.1
	AK291663.1
	AK292436.1
	BC033640.1			AAH33640.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv553633	Chr.11:18290154 - 19036904 on Build GRCh38	Gain	IGSF22 HPS5 GTF2H1 UEVLD MRGPRX1 SPTY2D1-AS1 SPTY2D1 TMEM86A LDHA LDHAL6A PTPN5 TSG101 LDHC MIR3159

More Information

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

Gene Ontology Categories:

Process(es)

organelle organization
blood coagulation
pigmentation