Hs05500590_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3493153 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	OR1E1 ASPA TRPV1 SPATA22 OR1E2 OR3A2 OR3A1 OR1A1 OR3A4P OR3A3 OR1A2 OR1D4 TRPV3
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	RAP1GAP2 GSG2 OR1G1 LOC101927911 OR1E1 PAFAH1B1 ASPA LOC105371591 OR1D5 P2RX1 EMC6 CAMKK1 OR1A1 NCBP3 OR3A4P MIR6776 MIR1253 CTNS LOC105371592 P2RX5-TAX1BP3 CLUH OR1D2 TRPV1 SPATA22 ATP2A3 OR1E2 P2RX5 SHPK OR3A2 OR3A1 ITGAE TAX1BP3 OR3A3 OR1A2 CCDC92B OR1D4 TRPV3
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	P2RX5-TAX1BP3 ITGAE GSG2 TAX1BP3 ASPA TRPV1 SPATA22 P2RX5 SHPK TRPV3 CTNS EMC6
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A4P OR3A3 OR1E1 ASPA SPATA22 OR1E2 OR3A2 OR3A1
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	CLUH RAP1GAP2 OR1D2 OR1G1 LOC101927911 OR1E1 PAFAH1B1 ASPA SPATA22 OR1E2 LOC105371591 OR3A2 OR1D5 OR3A1 OR1A1 OR3A4P OR3A3 MIR6776 MIR1253 OR1A2 CCDC92B OR1D4 TRPV3 LOC105371592
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	P2RX5-TAX1BP3 GSG2 OR1E1 ASPA TRPV1 SPATA22 OR1E2 P2RX5 SHPK OR3A2 EMC6 CAMKK1 ITGAE NCBP3 TAX1BP3 OR3A3 TRPV3 CTNS
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	ASPA SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A3 OR1E1 ASPA SPATA22 OR1E2 OR3A2 TRPV3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR3A3 ASPA TRPV1 SPATA22 OR1E2 SHPK 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