Hs06422729_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3483071 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 4

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

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