Hs05493929_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3488073 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 5

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	OR1A1 SPATA22 TRPV3 OR3A4P ASPA OR3A1 OR3A3 OR1D4 TRPV1 OR1E2 OR1E1 OR3A2 OR1A2
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR1A1 SPATA22 P2RX5 GSG2 OR1D5 CAMKK1 OR3A3 LOC101927911 NCBP3 ITGAE MIR1253 MIR6776 RAP1GAP2 TAX1BP3 OR1E2 LOC105371592 OR1E1 PAFAH1B1 OR1D2 OR1G1 CTNS TRPV3 OR3A4P ASPA OR3A1 LOC105371591 SHPK OR1D4 TRPV1 P2RX5-TAX1BP3 P2RX1 CLUH ATP2A3 CCDC92B EMC6 OR3A2 OR1A2
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	SHPK CTNS ITGAE SPATA22 TRPV1 P2RX5-TAX1BP3 TRPV3 TAX1BP3 P2RX5 GSG2 EMC6 ASPA
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	SPATA22 OR3A4P OR1E2 OR1E1 ASPA OR3A1 OR3A2 OR3A3
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1G1 OR1A1 SPATA22 TRPV3 OR3A4P OR1D5 ASPA OR3A1 OR3A3 LOC101927911 LOC105371591 OR1D4 MIR1253 MIR6776 RAP1GAP2 CLUH OR1E2 LOC105371592 CCDC92B OR1E1 OR3A2 PAFAH1B1 OR1A2 OR1D2
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	CTNS SPATA22 TRPV3 P2RX5 GSG2 ASPA CAMKK1 OR3A3 SHPK NCBP3 ITGAE TRPV1 P2RX5-TAX1BP3 TAX1BP3 OR1E2 OR1E1 EMC6 OR3A2
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	SPATA22 TRPV3 OR1E2 OR1E1 ASPA OR3A2 OR3A3
nsv525085	Chr.17:3486714 - 3490150 on Build GRCh38	Gain	SPATA22 ASPA
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SHPK SPATA22 TRPV1 TRPV3 OR1E2 ASPA 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