Hs05488934_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3495145 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	OR1A2 ASPA OR1E2 TRPV3 SPATA22 OR1E1 OR1D4 TRPV1 OR3A2 OR3A4P OR3A1 OR1A1 OR3A3
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	ITGAE SHPK OR1A2 OR1E2 CLUH ATP2A3 OR1D4 LOC101927911 PAFAH1B1 OR3A2 OR3A4P MIR6776 OR3A1 P2RX5 OR1A1 RAP1GAP2 GSG2 CTNS CAMKK1 NCBP3 ASPA P2RX5-TAX1BP3 OR1G1 TAX1BP3 TRPV3 SPATA22 LOC105371592 MIR1253 CCDC92B OR1E1 OR1D2 TRPV1 OR1D5 LOC105371591 EMC6 P2RX1 OR3A3
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	ITGAE GSG2 CTNS SHPK TRPV1 ASPA P2RX5-TAX1BP3 TAX1BP3 TRPV3 EMC6 SPATA22 P2RX5
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR1E1 ASPA OR3A2 OR1E2 OR3A4P SPATA22 OR3A1 OR3A3
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1A2 ASPA OR1E2 OR1G1 TRPV3 SPATA22 LOC105371592 MIR1253 CCDC92B CLUH OR1E1 OR1D4 LOC101927911 PAFAH1B1 OR1D2 OR1D5 LOC105371591 OR3A2 OR3A4P MIR6776 OR3A1 OR1A1 OR3A3 RAP1GAP2
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	ITGAE GSG2 CTNS CAMKK1 SHPK NCBP3 ASPA OR1E2 P2RX5-TAX1BP3 TAX1BP3 TRPV3 SPATA22 OR1E1 TRPV1 OR3A2 EMC6 P2RX5 OR3A3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	ASPA SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR1E1 ASPA OR3A2 OR1E2 TRPV3 SPATA22 OR3A3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SHPK TRPV1 ASPA OR1E2 TRPV3 SPATA22 OR3A3

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