Hs05477793_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3487314 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 OR3A1 OR1A2 OR1E1 OR3A3 OR1E2 OR1D4 ASPA OR3A2 OR3A4P TRPV1 TRPV3 SPATA22
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	OR1A1 MIR6776 RAP1GAP2 P2RX5-TAX1BP3 OR3A1 CLUH OR1A2 OR1E1 ATP2A3 MIR1253 NCBP3 ITGAE EMC6 LOC105371591 TRPV1 SHPK TAX1BP3 CTNS LOC101927911 OR3A3 PAFAH1B1 OR1E2 GSG2 OR1D4 CCDC92B ASPA OR1D2 P2RX1 OR1G1 P2RX5 OR3A2 OR3A4P OR1D5 TRPV3 CAMKK1 SPATA22 LOC105371592
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	CTNS P2RX5-TAX1BP3 ITGAE EMC6 P2RX5 TRPV1 GSG2 TRPV3 SHPK ASPA SPATA22 TAX1BP3
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	OR3A1 OR1E1 OR3A3 OR3A2 OR1E2 OR3A4P ASPA SPATA22
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	OR1A1 MIR6776 RAP1GAP2 OR3A1 CLUH OR1A2 LOC101927911 OR1E1 OR3A3 PAFAH1B1 OR1E2 OR1D4 CCDC92B ASPA MIR1253 OR1D2 OR1G1 LOC105371591 OR3A2 OR3A4P OR1D5 TRPV3 SPATA22 LOC105371592
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	CTNS P2RX5-TAX1BP3 OR1E1 OR3A3 OR1E2 GSG2 ASPA NCBP3 ITGAE EMC6 P2RX5 OR3A2 TRPV1 TRPV3 SHPK CAMKK1 SPATA22 TAX1BP3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	ASPA SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR1E1 OR3A3 OR3A2 OR1E2 TRPV3 ASPA SPATA22
nsv525085	Chr.17:3486714 - 3490150 on Build GRCh38	Gain	ASPA SPATA22
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR3A3 OR1E2 TRPV1 TRPV3 SHPK ASPA SPATA22

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