Hs06417813_cn

• Gene Symbol: ASPA
• Assay Reference Genome Location: Chr.17:3477340 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	TRPV1 SPATA22 OR3A4P OR3A3 OR1E1 OR1D4 OR1A2 OR1A1 ASPA OR3A1 OR3A2 OR1E2 TRPV3
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	TRPV1 OR3A4P ATP2A3 OR1A2 LOC105371591 CTNS ASPA CCDC92B OR1D5 CAMKK1 P2RX1 OR3A1 OR3A2 OR1E2 LOC101927911 CLUH PAFAH1B1 GSG2 SPATA22 OR1G1 OR3A3 OR1E1 OR1D4 OR1A1 P2RX5-TAX1BP3 NCBP3 MIR1253 OR1D2 RAP1GAP2 MIR6776 EMC6 P2RX5 LOC105371592 ITGAE SHPK TAX1BP3 TRPV3
nsv574232	Chr.17:3254715 - 3503170 on Build GRCh38	Gain	SPATA22 OR3A4P OR3A1 OR3A3 OR1E1 OR3A2 OR1E2 ASPA
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	SPATA22 OR1G1 OR3A4P OR3A3 OR1E1 OR1D4 OR1A2 OR1A1 LOC105371591 ASPA CCDC92B OR1D5 MIR1253 OR1D2 RAP1GAP2 MIR6776 OR3A1 LOC105371592 OR3A2 OR1E2 LOC101927911 CLUH PAFAH1B1 TRPV3
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	GSG2 TRPV1 SPATA22 OR3A3 OR1E1 CTNS P2RX5-TAX1BP3 NCBP3 ASPA CAMKK1 EMC6 P2RX5 OR3A2 OR1E2 ITGAE SHPK TAX1BP3 TRPV3
nsv528368	Chr.17:3459775 - 3507608 on Build GRCh38	Gain	SPATA22 ASPA
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	SPATA22 OR3A3 OR1E1 OR3A2 OR1E2 ASPA TRPV3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	TRPV1 SPATA22 OR3A3 OR1E2 SHPK 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