Hs05493929_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3488073 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	OR1E1 OR1A1 SPATA22 OR3A1 ASPA OR1A2 TRPV1 OR3A3 OR3A2 OR1D4 OR3A4P OR1E2 TRPV3
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	SPATA22 P2RX5 ASPA EMC6 ITGAE TRPV1 P2RX5-TAX1BP3 SHPK TAX1BP3 TRPV3 GSG2 CTNS
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	EMC6 OR1G1 MIR6776 SHPK TAX1BP3 PAFAH1B1 OR1E1 CCDC92B LOC101927911 OR3A1 ASPA ITGAE OR1A2 CLUH TRPV1 OR3A3 ATP2A3 OR1D4 CAMKK1 OR3A4P OR1E2 TRPV3 P2RX1 OR1D2 NCBP3 GSG2 CTNS OR1A1 SPATA22 RAP1GAP2 MIR1253 P2RX5 OR1D5 P2RX5-TAX1BP3 OR3A2 LOC105371591 LOC105371592
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR1E1 SPATA22 OR3A1 ASPA OR3A3 OR3A2 OR3A4P OR1E2
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1D2 OR1G1 MIR6776 PAFAH1B1 OR1E1 OR1A1 SPATA22 CCDC92B RAP1GAP2 LOC101927911 MIR1253 OR3A1 ASPA OR1A2 CLUH OR1D5 OR3A3 OR3A2 LOC105371591 OR1D4 OR3A4P OR1E2 TRPV3 LOC105371592
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	NCBP3 EMC6 SHPK TAX1BP3 GSG2 CTNS OR1E1 SPATA22 P2RX5 ASPA ITGAE TRPV1 P2RX5-TAX1BP3 OR3A3 OR3A2 CAMKK1 OR1E2 TRPV3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR1E1 SPATA22 ASPA OR3A3 OR3A2 OR1E2 TRPV3
nsv525085	Chr.17:3486714 - 3490150 on Build GRCh38	Gain	SPATA22 ASPA
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 ASPA TRPV1 OR3A3 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