Hs02749764_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3481681 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASPA	NM_000049.2	2	473	NP_000040.1
	NM_001128085.1	3	406	NP_001121557.1
	XM_017024661.1	4	622	XP_016880150.1
	AK312901.1	3	464
	BC029128.1	2	450	AAH29128.1
	CR541908.1	2	315	CAG46706.1
	S67156.1	2	473	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	OR3A4P OR1E1 OR3A3 OR3A2 OR3A1 SPATA22 TRPV1 ASPA OR1E2 OR1A1 OR1A2 OR1D4 TRPV3
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	CAMKK1 OR3A4P OR1E1 LOC105371591 MIR1253 OR1G1 OR3A3 TAX1BP3 GSG2 OR3A1 ATP2A3 SPATA22 OR1D2 CLUH OR1E2 PAFAH1B1 P2RX5 P2RX5-TAX1BP3 OR1D4 MIR6776 CCDC92B TRPV3 LOC101927911 SHPK LOC105371592 EMC6 OR1D5 ITGAE P2RX1 OR3A2 NCBP3 TRPV1 ASPA CTNS OR1A1 OR1A2 RAP1GAP2
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	SPATA22 OR3A4P OR1E1 ASPA OR1E2 OR3A3 OR3A2 OR3A1
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	LOC105371592 OR3A4P OR1E1 OR1D5 LOC105371591 MIR1253 OR1G1 OR3A3 OR3A2 OR3A1 SPATA22 ASPA OR1D2 CLUH OR1E2 OR1A1 PAFAH1B1 OR1A2 OR1D4 MIR6776 CCDC92B TRPV3 LOC101927911 RAP1GAP2
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	CAMKK1 OR1E1 EMC6 ITGAE OR3A3 TAX1BP3 GSG2 OR3A2 SPATA22 NCBP3 TRPV1 ASPA CTNS OR1E2 P2RX5 P2RX5-TAX1BP3 TRPV3 SHPK
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	SPATA22 OR1E1 ASPA OR1E2 OR3A3 TRPV3 OR3A2
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 TRPV1 ASPA OR1E2 OR3A3 TRPV3 SHPK

More Information

• Set Membership: Intragenic, Exonic, 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