Hs05508351_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3510509 on build GRCh38
• Cytoband: 17p13.2

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 Gene Details

• Entrez Gene ID: 162514
• Gene Name: transient receptor potential cation channel subfamily V member 3
• Gene Aliases: FNEPPK2, OLMS, VRL3
• Location: Chr.17:3510502-3557995 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRPV3	NM_001258205.1			NP_001245134.1
	NM_145068.3			NP_659505.1
	AK127330.1
	AK127726.1
	BX537539.1

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	ASPA OR1A2 OR1E1 OR3A1 TRPV3 OR1D4 OR3A4P SPATA22 OR1E2 TRPV1 OR3A3 OR1A1 OR3A2
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	ASPA CLUH OR1D5 OR1A2 P2RX1 PAFAH1B1 OR1E1 MIR6776 RAP1GAP2 OR1G1 NCBP3 ATP2A3 OR3A4P OR1E2 TRPV1 OR3A3 SHPK EMC6 P2RX5 MIR1253 GSG2 P2RX5-TAX1BP3 LOC105371591 OR1D2 TAX1BP3 CCDC92B LOC101927911 OR3A1 TRPV3 OR1D4 SPATA22 ITGAE OR1A1 OR3A2 CAMKK1 LOC105371592 CTNS
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	ASPA SPATA22 ITGAE TRPV1 GSG2 P2RX5-TAX1BP3 SHPK EMC6 CTNS P2RX5 TAX1BP3 TRPV3
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	ASPA CLUH MIR1253 OR1D5 OR1A2 LOC105371591 OR1D2 PAFAH1B1 OR1E1 MIR6776 RAP1GAP2 CCDC92B OR1G1 LOC101927911 OR3A1 TRPV3 OR1D4 OR3A4P SPATA22 OR1E2 OR3A3 OR1A1 OR3A2 LOC105371592
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	ASPA GSG2 P2RX5-TAX1BP3 OR1E1 TAX1BP3 NCBP3 TRPV3 SPATA22 ITGAE OR1E2 TRPV1 OR3A3 SHPK EMC6 OR3A2 CAMKK1 CTNS P2RX5
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	ASPA SPATA22 OR1E2 OR3A3 OR3A2 OR1E1 TRPV3
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	ASPA SPATA22 OR1E2 TRPV1 OR3A3 SHPK TRPV3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

meiotic DNA repair synthesis
synapsis
gamete generation
fertilization
regulation of meiotic cell cycle
reproductive system development
response to heat
negative regulation of hair cycle
calcium ion transmembrane transport
positive regulation of calcium ion import

Function(s)

protein binding
calcium channel activity