Hs05486857_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3479749 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	OR3A4P OR1E2 TRPV1 OR3A1 OR1A1 OR1E1 OR1A2 SPATA22 OR3A2 ASPA OR3A3 TRPV3 OR1D4
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	LOC101927911 OR3A4P CCDC92B OR1G1 OR1E2 LOC105371591 RAP1GAP2 OR3A1 P2RX5-TAX1BP3 OR1A1 OR1E1 OR1D2 NCBP3 TAX1BP3 ITGAE OR1D5 SPATA22 CAMKK1 OR3A2 ASPA ATP2A3 TRPV3 OR1D4 LOC105371592 GSG2 TRPV1 MIR1253 SHPK P2RX5 EMC6 CTNS OR1A2 OR3A3 MIR6776 CLUH PAFAH1B1 P2RX1
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A4P OR1E2 OR3A1 SPATA22 OR3A2 ASPA OR3A3 OR1E1
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	LOC101927911 OR3A4P CCDC92B OR1G1 OR1E2 LOC105371591 RAP1GAP2 OR3A1 MIR1253 OR1A1 OR1E1 OR1D2 OR1A2 OR1D5 SPATA22 OR3A2 ASPA OR3A3 TRPV3 MIR6776 CLUH OR1D4 PAFAH1B1 LOC105371592
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	OR1E2 GSG2 TRPV1 P2RX5-TAX1BP3 SHPK P2RX5 EMC6 OR1E1 CTNS NCBP3 TAX1BP3 ITGAE SPATA22 CAMKK1 OR3A2 ASPA OR3A3 TRPV3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR1E2 SPATA22 OR3A2 ASPA OR3A3 TRPV3 OR1E1
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR1E2 TRPV1 SPATA22 SHPK ASPA OR3A3 TRPV3

More Information

Additional Information:

For this assay, SNP(s) [rs77803303] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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