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

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