Hs03058769_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3475994 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: Overlaps Intron 2 - Exon 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
	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	OR1A2 OR3A4P OR3A1 OR3A2 OR1D4 OR1E1 OR3A3 TRPV3 SPATA22 OR1A1 OR1E2 TRPV1 ASPA
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	RAP1GAP2 OR1A2 OR3A4P ITGAE OR3A2 MIR1253 OR1D4 OR1G1 GSG2 LOC105371591 CAMKK1 TRPV3 P2RX5-TAX1BP3 OR1A1 EMC6 CTNS LOC101927911 CCDC92B MIR6776 TAX1BP3 OR3A1 OR1D5 P2RX5 OR1E1 OR3A3 ATP2A3 CLUH SPATA22 NCBP3 OR1E2 OR1D2 SHPK P2RX1 TRPV1 LOC105371592 ASPA PAFAH1B1
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	SPATA22 OR3A4P OR3A1 OR3A2 OR1E2 OR1E1 OR3A3 ASPA
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	RAP1GAP2 OR1A2 OR3A4P OR3A1 OR3A2 OR1D5 MIR1253 OR1D4 OR1G1 OR1E1 LOC105371591 OR3A3 TRPV3 CLUH SPATA22 OR1A1 OR1E2 OR1D2 LOC101927911 CCDC92B MIR6776 LOC105371592 ASPA PAFAH1B1
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	TAX1BP3 ITGAE OR3A2 P2RX5 GSG2 OR1E1 OR3A3 CAMKK1 TRPV3 SPATA22 P2RX5-TAX1BP3 EMC6 CTNS NCBP3 OR1E2 SHPK TRPV1 ASPA
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	SPATA22 OR3A2 OR1E2 OR1E1 OR3A3 ASPA TRPV3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	SPATA22 OR1E2 SHPK TRPV1 OR3A3 ASPA TRPV3

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