Hs05510106_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3486512 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	SPATA22 OR3A4P OR1E1 TRPV1 OR3A2 TRPV3 OR3A3 ASPA OR1E2 OR1A1 OR3A1 OR1A2 OR1D4
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	LOC105371592 SPATA22 MIR1253 OR1E1 OR1G1 ATP2A3 SHPK TRPV3 OR1D5 OR3A3 ASPA OR1E2 ITGAE OR3A1 CCDC92B OR1A2 RAP1GAP2 GSG2 TAX1BP3 OR3A4P P2RX5-TAX1BP3 TRPV1 NCBP3 P2RX1 OR3A2 MIR6776 LOC101927911 CTNS EMC6 CAMKK1 LOC105371591 OR1D2 OR1A1 PAFAH1B1 OR1D4 CLUH P2RX5
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	SPATA22 OR3A4P OR3A3 OR1E1 ASPA OR1E2 OR3A1 OR3A2
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	LOC105371592 SPATA22 OR3A4P MIR1253 OR1E1 OR1G1 OR3A2 MIR6776 LOC101927911 TRPV3 OR1D5 OR3A3 LOC105371591 ASPA OR1E2 OR1D2 OR1A1 PAFAH1B1 OR3A1 CCDC92B OR1A2 RAP1GAP2 OR1D4 CLUH
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	SPATA22 P2RX5-TAX1BP3 OR1E1 TRPV1 NCBP3 OR3A2 SHPK TRPV3 CTNS EMC6 CAMKK1 OR3A3 ASPA OR1E2 ITGAE P2RX5 GSG2 TAX1BP3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	SPATA22 OR3A3 OR1E1 ASPA OR1E2 OR3A2 TRPV3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 OR3A3 TRPV1 ASPA 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