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

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