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

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