Hs00243123_cn

• Gene Symbol: HPS5
• Assay Reference Genome Location: Chr.11:18295109 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: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPS5	NM_007216.3	13	1816	NP_009147.3
	NM_181507.1	14	1973	NP_852608.1
	NM_181508.1	13	1629	NP_852609.1
	XM_011519862.1	14	1964	XP_011518164.1
	XM_011519863.1	14	1872	XP_011518165.1
	XM_011519864.1	14	1804	XP_011518166.1
	XM_011519865.1	13	2186	XP_011518167.1
	XM_011519866.1	13	1837	XP_011518168.1
	XM_011519867.1	13	1703	XP_011518169.1
	XM_011519868.2	13	1944	XP_011518170.1
	XM_017017149.1	14	1872	XP_016872638.1
	XM_017017150.1	14	1804	XP_016872639.1
	XM_017017151.1	13	2022	XP_016872640.1
	XM_017017152.1	13	2186	XP_016872641.1
	XM_017017153.1	13	2022	XP_016872642.1
	XM_017017154.1	13	1703	XP_016872643.1
	AB023234.1	13	1629
	AF534400.1	13	1629	AAO25962.1
	AF534401.1	14	1973	AAO25963.1
	AF534402.1	13	1816	AAO25964.1
	AJ131721.1	2	147	CAB38232.1
	AK291663.1	14	1939
	AK292436.1	13	1782
	BC033640.1	13	1777	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	PTPN5 TSG101 SPTY2D1 LDHA TMEM86A LDHC UEVLD IGSF22 HPS5 GTF2H1 MRGPRX1 MIR3159 SPTY2D1-AS1 LDHAL6A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

organelle organization
blood coagulation
pigmentation