Hs05505997_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3496044 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 7

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	SPATA22 OR3A4P OR1E1 OR3A2 TRPV1 OR1A1 OR3A3 OR3A1 ASPA TRPV3 OR1E2 OR1A2 OR1D4
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	P2RX5 ASPA TRPV3 SPATA22 TRPV1 ITGAE P2RX5-TAX1BP3 TAX1BP3 SHPK GSG2 EMC6 CTNS
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR1D5 SPATA22 LOC101927911 OR1E1 LOC105371592 ITGAE P2RX5-TAX1BP3 MIR1253 OR1D2 OR3A3 OR3A1 LOC105371591 CCDC92B TRPV3 PAFAH1B1 CLUH P2RX5 OR3A4P OR3A2 TRPV1 TAX1BP3 MIR6776 SHPK OR1A1 EMC6 ATP2A3 ASPA NCBP3 OR1E2 OR1A2 RAP1GAP2 OR1G1 P2RX1 CAMKK1 GSG2 OR1D4 CTNS
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	ASPA SPATA22 OR3A4P OR1E1 OR1E2 OR3A2 OR3A3 OR3A1
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1D5 SPATA22 LOC101927911 OR3A4P OR1E1 OR3A2 LOC105371592 MIR1253 OR1D2 MIR6776 OR1A1 OR3A3 OR3A1 LOC105371591 ASPA CCDC92B TRPV3 OR1E2 PAFAH1B1 OR1A2 RAP1GAP2 OR1G1 OR1D4 CLUH
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	P2RX5 SPATA22 OR1E1 OR3A2 TRPV1 ITGAE P2RX5-TAX1BP3 TAX1BP3 SHPK OR3A3 EMC6 ASPA TRPV3 NCBP3 OR1E2 CAMKK1 GSG2 CTNS
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	ASPA SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	ASPA TRPV3 SPATA22 OR1E1 OR1E2 OR3A2 OR3A3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	ASPA TRPV3 SPATA22 OR1E2 TRPV1 SHPK OR3A3

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