Hs05515919_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3494634 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	OR1E2 TRPV3 SPATA22 OR3A2 TRPV1 OR3A1 OR1D4 OR3A4P OR1A2 ASPA OR3A3 OR1E1 OR1A1
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	GSG2 EMC6 TRPV3 SPATA22 TAX1BP3 ASPA ITGAE CTNS P2RX5-TAX1BP3 P2RX5 SHPK TRPV1
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	PAFAH1B1 EMC6 TRPV3 TAX1BP3 OR1D2 CLUH TRPV1 MIR1253 CCDC92B OR3A1 MIR6776 OR1D5 CTNS P2RX1 ATP2A3 NCBP3 P2RX5-TAX1BP3 SHPK OR1E1 OR1A1 LOC105371592 RAP1GAP2 CAMKK1 OR1E2 SPATA22 LOC101927911 P2RX5 OR3A2 GSG2 LOC105371591 OR1D4 OR3A4P OR1A2 ASPA ITGAE OR1G1 OR3A3
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A1 OR1E2 OR3A4P SPATA22 ASPA OR3A3 OR3A2 OR1E1
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	PAFAH1B1 LOC105371592 RAP1GAP2 OR1E2 TRPV3 SPATA22 LOC101927911 OR1D2 CLUH OR3A2 MIR1253 CCDC92B OR3A1 LOC105371591 OR1D4 OR3A4P MIR6776 OR1A2 OR1D5 ASPA OR1G1 OR3A3 OR1E1 OR1A1
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	CAMKK1 OR1E2 EMC6 TRPV3 SPATA22 TAX1BP3 P2RX5 OR3A2 TRPV1 GSG2 ASPA ITGAE CTNS OR3A3 NCBP3 P2RX5-TAX1BP3 SHPK OR1E1
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR1E2 TRPV3 SPATA22 ASPA OR3A3 OR3A2 OR1E1
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR1E2 TRPV3 SPATA22 ASPA OR3A3 SHPK TRPV1

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