Hs05500590_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3493153 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 6

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