Hs05491243_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3485618 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 443
• Gene Name: aspartoacylase
• Gene Aliases: ACY2, ASP
• Location: Chr.17:3474106-3502534 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASPA	NM_000049.2			NP_000040.1
	NM_001128085.1			NP_001121557.1
	XM_017024661.1			XP_016880150.1
	AK312901.1
	BC029128.1			AAH29128.1
	CR541908.1			CAG46706.1
	S67156.1			AAB29190.1

Target Gene Details

• Entrez Gene ID: 84690
• Gene Name: spermatogenesis associated 22
• Gene Aliases: NYD-SP20, NYDSP20
• Location: Chr.17:3440011-3513852 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATA22	NM_001321336.1			NP_001308265.1
	NM_001321337.1			NP_001308266.1
	AK295299.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892950	Chr.17:3131812 - 3577153 on Build GRCh38	Loss	TRPV1 TRPV3 OR1A2 OR1E2 OR3A2 SPATA22 OR3A4P OR3A1 OR1D4 OR3A3 OR1E1 OR1A1 ASPA
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	TRPV1 CLUH OR1G1 LOC101927911 OR1E2 CAMKK1 RAP1GAP2 CCDC92B NCBP3 PAFAH1B1 OR3A2 SPATA22 OR3A4P OR3A1 GSG2 OR1D5 LOC105371591 SHPK OR3A3 MIR1253 TRPV3 OR1A2 EMC6 P2RX5 P2RX1 MIR6776 TAX1BP3 OR1D2 LOC105371592 ITGAE P2RX5-TAX1BP3 CTNS ATP2A3 OR1D4 OR1E1 OR1A1 ASPA
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR1E2 OR3A3 OR1E1 OR3A2 ASPA SPATA22 OR3A4P OR3A1
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	TRPV3 CLUH OR1G1 LOC101927911 OR1A2 OR1E2 RAP1GAP2 CCDC92B MIR6776 OR1D2 PAFAH1B1 LOC105371592 OR3A2 SPATA22 OR3A4P OR3A1 OR1D5 LOC105371591 OR1D4 OR3A3 OR1E1 MIR1253 OR1A1 ASPA
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	TRPV1 TRPV3 OR1E2 EMC6 P2RX5 CAMKK1 TAX1BP3 NCBP3 OR3A2 ITGAE SPATA22 P2RX5-TAX1BP3 GSG2 CTNS SHPK OR3A3 OR1E1 ASPA
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	ASPA SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	TRPV3 OR1E2 OR3A3 OR1E1 OR3A2 ASPA SPATA22
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	TRPV1 TRPV3 SHPK OR1E2 OR3A3 ASPA SPATA22

More Information

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

Gene Ontology Categories:

Process(es)

aspartate catabolic process
cellular amino acid biosynthetic process
meiotic DNA repair synthesis
synapsis
gamete generation
fertilization
regulation of meiotic cell cycle
reproductive system development

Function(s)

aminoacylase activity
protein binding
hydrolase activity, acting on ester bonds
aspartoacylase activity
metal ion binding