Hs05499673_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3488862 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	OR3A1 SPATA22 OR1E1 TRPV1 OR3A2 OR3A4P OR1A2 OR1A1 OR3A3 OR1D4 OR1E2 TRPV3 ASPA
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	GSG2 TAX1BP3 CTNS TRPV3 SPATA22 ITGAE P2RX5-TAX1BP3 TRPV1 P2RX5 SHPK ASPA EMC6
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	NCBP3 CAMKK1 OR3A1 SPATA22 OR1D5 P2RX5 ATP2A3 OR1A1 CTNS CLUH MIR6776 ITGAE LOC101927911 RAP1GAP2 EMC6 CCDC92B OR1D2 TAX1BP3 MIR1253 LOC105371592 OR1E1 TRPV1 OR3A2 OR3A4P OR1A2 P2RX1 GSG2 OR3A3 OR1D4 OR1E2 LOC105371591 TRPV3 P2RX5-TAX1BP3 PAFAH1B1 SHPK ASPA OR1G1
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A3 OR1E2 OR3A1 SPATA22 OR1E1 OR3A2 OR3A4P ASPA
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	CCDC92B OR1D2 MIR1253 LOC105371592 OR3A1 SPATA22 OR1E1 OR1D5 OR3A2 OR3A4P OR1A2 OR1A1 OR3A3 OR1D4 OR1E2 CLUH LOC105371591 MIR6776 TRPV3 PAFAH1B1 LOC101927911 RAP1GAP2 ASPA OR1G1
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	TAX1BP3 NCBP3 CAMKK1 SPATA22 OR1E1 TRPV1 OR3A2 P2RX5 GSG2 OR3A3 OR1E2 CTNS TRPV3 ITGAE P2RX5-TAX1BP3 SHPK ASPA EMC6
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A3 OR1E2 TRPV3 SPATA22 OR1E1 OR3A2 ASPA
nsv525085	Chr.17:3486714 - 3490150 on Build GRCh38	Gain	SPATA22 ASPA
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR3A3 OR1E2 TRPV3 SPATA22 TRPV1 SHPK ASPA

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