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