Hs05510106_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3486512 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	OR1A2 OR3A4P ASPA SPATA22 OR3A2 TRPV1 OR1A1 OR1E1 OR3A3 OR1E2 OR1D4 TRPV3 OR3A1
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR3A4P OR1D2 P2RX5 SPATA22 CCDC92B CAMKK1 OR1E1 OR1G1 OR3A3 MIR6776 ITGAE TAX1BP3 TRPV3 OR3A1 PAFAH1B1 SHPK MIR1253 OR1A2 ASPA LOC105371591 LOC101927911 OR1D5 CLUH OR3A2 TRPV1 CTNS OR1A1 EMC6 P2RX5-TAX1BP3 ATP2A3 LOC105371592 OR1E2 RAP1GAP2 OR1D4 P2RX1 NCBP3 GSG2
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A4P ASPA SPATA22 OR3A2 OR1E1 OR3A1 OR3A3 OR1E2
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1A2 OR3A4P ASPA OR1D2 SPATA22 LOC105371591 LOC101927911 OR1D5 CLUH CCDC92B OR3A2 OR1A1 OR1E1 LOC105371592 OR1G1 OR3A3 OR1E2 RAP1GAP2 MIR6776 OR1D4 TRPV3 OR3A1 PAFAH1B1 MIR1253
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	ASPA P2RX5 SPATA22 OR3A2 TRPV1 CTNS CAMKK1 EMC6 OR1E1 P2RX5-TAX1BP3 OR3A3 OR1E2 ITGAE TAX1BP3 NCBP3 GSG2 TRPV3 SHPK
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	ASPA SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	ASPA SPATA22 OR3A2 TRPV3 OR1E1 OR3A3 OR1E2
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	ASPA SPATA22 TRPV1 TRPV3 OR3A3 OR1E2 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