Hs05477793_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3487314 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	OR3A3 OR3A2 OR1E1 OR1D4 OR3A1 OR3A4P ASPA TRPV1 OR1A2 SPATA22 TRPV3 OR1A1 OR1E2
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	TAX1BP3 SHPK CTNS P2RX5 GSG2 ASPA P2RX5-TAX1BP3 TRPV1 SPATA22 TRPV3 EMC6 ITGAE
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	TAX1BP3 OR3A3 GSG2 OR3A2 RAP1GAP2 OR1E1 P2RX5-TAX1BP3 CLUH LOC101927911 OR1D4 EMC6 OR3A1 P2RX1 MIR6776 SHPK OR1G1 CCDC92B OR3A4P NCBP3 OR1A2 TRPV3 ATP2A3 LOC105371591 ITGAE OR1E2 CTNS MIR1253 CAMKK1 PAFAH1B1 OR1D2 LOC105371592 P2RX5 OR1D5 ASPA TRPV1 SPATA22 OR1A1
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A3 OR3A2 OR3A4P OR1E1 ASPA SPATA22 OR3A1 OR1E2
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR3A3 MIR1253 OR3A2 RAP1GAP2 OR1E1 CLUH PAFAH1B1 LOC101927911 OR1D4 OR3A1 OR1D2 LOC105371592 MIR6776 OR1G1 CCDC92B OR3A4P OR1D5 ASPA OR1A2 SPATA22 TRPV3 LOC105371591 OR1A1 OR1E2
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	TAX1BP3 OR3A3 CTNS GSG2 OR3A2 OR1E1 P2RX5-TAX1BP3 CAMKK1 EMC6 SHPK P2RX5 ASPA TRPV1 NCBP3 SPATA22 TRPV3 ITGAE OR1E2
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	ASPA SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A3 OR3A2 OR1E1 ASPA SPATA22 TRPV3 OR1E2
nsv525085	Chr.17:3486714 - 3490150 on Build GRCh38	Gain	ASPA SPATA22
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SHPK OR3A3 ASPA TRPV1 SPATA22 TRPV3 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