Hs05512826_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3481230 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 3

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