Hs05487237_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3495483 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 7

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

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