Hs05488934_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3495145 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 OR1A1 OR1E1 OR3A1 TRPV3 OR1A2 OR1E2 OR1D4 OR3A4P TRPV1 ASPA OR3A3 OR3A2
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	SPATA22 SHPK GSG2 TAX1BP3 TRPV1 ITGAE ASPA EMC6 P2RX5 CTNS P2RX5-TAX1BP3 TRPV3
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	LOC101927911 SPATA22 SHPK P2RX1 ATP2A3 LOC105371592 P2RX5 CTNS TRPV3 LOC105371591 CLUH OR1D4 OR1G1 GSG2 OR3A4P ITGAE OR3A3 OR1D2 OR3A2 CAMKK1 NCBP3 CCDC92B OR1A1 OR1E1 OR3A1 TAX1BP3 EMC6 OR1A2 RAP1GAP2 OR1E2 PAFAH1B1 MIR6776 MIR1253 OR1D5 TRPV1 ASPA P2RX5-TAX1BP3
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	SPATA22 OR1E2 OR1E1 OR3A1 OR3A4P ASPA OR3A3 OR3A2
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	LOC101927911 SPATA22 CCDC92B OR1A1 OR1E1 OR3A1 LOC105371592 TRPV3 OR1A2 LOC105371591 RAP1GAP2 OR1E2 CLUH OR1D4 OR1G1 PAFAH1B1 OR3A4P MIR6776 MIR1253 OR1D5 ASPA OR3A3 OR1D2 OR3A2
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	CAMKK1 NCBP3 SPATA22 SHPK OR1E1 TAX1BP3 EMC6 P2RX5 CTNS TRPV3 OR1E2 GSG2 TRPV1 ITGAE ASPA OR3A3 P2RX5-TAX1BP3 OR3A2
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	SPATA22 OR1E2 OR1E1 ASPA OR3A3 TRPV3 OR3A2
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 SHPK OR1E2 TRPV1 ASPA OR3A3 TRPV3

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