Hs05486068_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3496667 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	OR3A2 OR1E1 SPATA22 OR1D4 TRPV1 ASPA OR1A2 OR3A3 OR1A1 OR3A4P TRPV3 OR1E2 OR3A1
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	SPATA22 SHPK CTNS TRPV3 TRPV1 ASPA ITGAE P2RX5-TAX1BP3 GSG2 EMC6 TAX1BP3 P2RX5
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	MIR1253 OR1D4 TRPV1 ITGAE P2RX5-TAX1BP3 EMC6 P2RX5 OR3A3 OR3A4P CTNS TRPV3 NCBP3 CAMKK1 OR3A1 GSG2 TAX1BP3 OR3A2 OR1E1 MIR6776 CCDC92B SPATA22 ASPA LOC101927911 OR1D5 ATP2A3 LOC105371591 OR1A2 OR1A1 SHPK PAFAH1B1 LOC105371592 RAP1GAP2 OR1G1 OR1E2 P2RX1 CLUH OR1D2
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A2 OR1E1 OR3A3 SPATA22 OR3A4P ASPA OR1E2 OR3A1
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR3A2 OR1E1 MIR6776 CCDC92B MIR1253 SPATA22 OR1D4 ASPA LOC101927911 OR1D5 LOC105371591 OR1A2 OR3A3 OR1A1 PAFAH1B1 OR3A4P TRPV3 LOC105371592 RAP1GAP2 OR1G1 OR1E2 OR3A1 CLUH OR1D2
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	OR3A2 OR1E1 SPATA22 TRPV1 ASPA ITGAE P2RX5-TAX1BP3 EMC6 P2RX5 OR3A3 SHPK CTNS TRPV3 NCBP3 CAMKK1 OR1E2 GSG2 TAX1BP3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A2 OR1E1 OR3A3 SPATA22 TRPV3 ASPA OR1E2
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR3A3 SPATA22 SHPK TRPV3 TRPV1 ASPA OR1E2

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