Hs05473930_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3489405 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 6

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