Hs05491243_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3485618 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	OR1E2 OR1D4 OR3A4P TRPV3 ASPA SPATA22 OR3A3 OR1A1 OR3A2 TRPV1 OR3A1 OR1E1 OR1A2
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR1D2 P2RX5-TAX1BP3 LOC105371592 OR1D5 TRPV3 GSG2 RAP1GAP2 OR3A3 NCBP3 PAFAH1B1 TRPV1 OR1A2 P2RX1 TAX1BP3 MIR1253 MIR6776 OR1E2 OR1D4 OR3A4P SHPK LOC105371591 CCDC92B ASPA SPATA22 ITGAE OR1A1 OR3A2 CAMKK1 CLUH OR3A1 OR1E1 EMC6 LOC101927911 OR1G1 ATP2A3 P2RX5 CTNS
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	SPATA22 OR1E2 OR3A3 OR3A2 OR3A4P OR3A1 OR1E1 ASPA
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1D2 OR1E2 OR1D4 LOC105371592 OR3A4P OR1D5 TRPV3 LOC105371591 CCDC92B ASPA RAP1GAP2 SPATA22 OR3A3 OR1A1 OR3A2 CLUH PAFAH1B1 OR3A1 OR1E1 OR1A2 LOC101927911 OR1G1 MIR1253 MIR6776
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	OR1E2 P2RX5-TAX1BP3 SHPK TRPV3 GSG2 ASPA SPATA22 OR3A3 ITGAE OR3A2 CAMKK1 NCBP3 TRPV1 OR1E1 EMC6 TAX1BP3 P2RX5 CTNS
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	SPATA22 OR1E2 OR3A3 OR3A2 OR1E1 TRPV3 ASPA
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 OR1E2 OR3A3 TRPV1 SHPK TRPV3 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