Hs01765493_cn

• Gene Symbol: HPS1
• Assay Reference Genome Location: Chr.10:98429427 on build GRCh38
• Cytoband: 10q24.2

Target Gene Details

• Entrez Gene ID: 3257
• Gene Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
• Gene Aliases: BLOC3S1, HPS
• Location: Chr.10:98415068-98446963 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPS1	NM_000195.4			NP_000186.2
	NM_001311345.1			NP_001298274.1
	NM_001322476.1			NP_001309405.1
	NM_001322477.1			NP_001309406.1
	NM_001322478.1			NP_001309407.1
	NM_001322479.1			NP_001309408.1
	NM_001322480.1			NP_001309409.1
	NM_001322481.1			NP_001309410.1
	NM_001322482.1			NP_001309411.1
	NM_001322483.1			NP_001309412.1
	NM_001322484.1			NP_001309413.1
	NM_001322485.1			NP_001309414.1
	NM_001322487.1			NP_001309416.1
	NM_001322489.1			NP_001309418.1
	NM_001322490.1	9	1236	NP_001309419.1
	NM_001322491.1	9	1175	NP_001309420.1
	NM_001322492.1	8	1057	NP_001309421.1
	NM_182639.3	10	1354	NP_872577.1
	XM_005269757.4			XP_005269814.1
	XM_017016170.1			XP_016871659.1
	XM_017016171.1			XP_016871660.1
	XM_017016172.1			XP_016871661.1
	XM_017016173.1	8	1135	XP_016871662.1
	AK295821.1
	BC000175.2	10	1304	AAH00175.1
	BI518436.1
	BI966698.1	1	290
	BQ100915.1	1	288
	BX647296.1	2	1742
	U65676.1			AAB17869.1
	U96721.1	10	1317	AAC52074.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524427	Chr.10:98408615 - 98452617 on Build GRCh38	Loss	HPS1 LOC101927278 MIR4685 PYROXD2
nsv515723	Chr.10:98388419 - 98435072 on Build GRCh38	Loss	MIR1287 HPS1 MIR4685 PYROXD2
nsv831955	Chr.10:98402137 - 98592058 on Build GRCh38	Gain	HPSE2 HPS1 LOC101927278 MIR4685 PYROXD2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

lysosome organization
visual perception
response to stimulus

Function(s)

protein binding
protein dimerization activity