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

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