Hs05512826_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3481230 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 3

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