Hs05505997_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3496044 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	OR1D4 SPATA22 OR3A3 TRPV1 OR1A2 ASPA OR3A1 OR1E2 TRPV3 OR3A2 OR1A1 OR3A4P OR1E1
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR1D4 MIR1253 CCDC92B TRPV1 OR1A2 ATP2A3 ASPA CTNS OR1D2 LOC105371592 ITGAE CAMKK1 OR1G1 CLUH P2RX1 P2RX5-TAX1BP3 SPATA22 LOC101927911 RAP1GAP2 OR3A3 GSG2 OR3A1 OR1E2 TRPV3 OR1D5 LOC105371591 OR3A2 OR1A1 P2RX5 PAFAH1B1 OR3A4P SHPK OR1E1 EMC6 TAX1BP3 NCBP3 MIR6776
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	P2RX5 P2RX5-TAX1BP3 SPATA22 SHPK TRPV1 EMC6 GSG2 ASPA CTNS TAX1BP3 ITGAE TRPV3
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A2 SPATA22 OR3A4P OR3A3 OR1E1 ASPA OR3A1 OR1E2
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1D4 SPATA22 MIR1253 LOC101927911 RAP1GAP2 OR3A3 CCDC92B OR1A2 ASPA OR1D2 OR3A1 LOC105371592 OR1E2 TRPV3 OR1D5 OR1G1 LOC105371591 CLUH OR3A2 OR1A1 PAFAH1B1 OR3A4P OR1E1 MIR6776
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	P2RX5-TAX1BP3 SPATA22 OR3A3 TRPV1 GSG2 ASPA CTNS ITGAE OR1E2 CAMKK1 TRPV3 OR3A2 P2RX5 SHPK OR1E1 EMC6 TAX1BP3 NCBP3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A2 SPATA22 OR3A3 OR1E1 ASPA OR1E2 TRPV3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 OR3A3 SHPK TRPV1 ASPA 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