Hs07536044_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3511869 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: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRPV3	NM_001258205.1	18	4746	NP_001245134.1
	NM_145068.3	18	4743	NP_659505.1
	AK127330.1	6	2742
	AK127726.1	12	3695
	BX537539.1	12	3683

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	OR3A3 OR3A2 TRPV1 OR1E2 TRPV3 OR1A1 OR3A1 ASPA OR1A2 OR3A4P OR1E1 SPATA22 OR1D4
nsv1065489	Chr.17:2631416 - 3948349 on Build GRCh38	Gain	CAMKK1 MIR1253 P2RX5-TAX1BP3 ITGAE OR1D2 TRPV1 EMC6 OR1E2 OR1A1 CCDC92B OR1G1 TAX1BP3 PAFAH1B1 ASPA SHPK OR1E1 MIR6776 NCBP3 SPATA22 OR1D4 CTNS P2RX1 LOC105371592 OR3A3 CLUH OR3A2 TRPV3 ATP2A3 OR3A1 P2RX5 RAP1GAP2 LOC105371591 OR1D5 OR1A2 OR3A4P GSG2 LOC101927911
nsv574237	Chr.17:3486822 - 3729542 on Build GRCh38	Loss	CTNS P2RX5-TAX1BP3 ITGAE ASPA TRPV1 SHPK EMC6 TRPV3 GSG2 TAX1BP3 SPATA22 P2RX5
esv23898	Chr.17:3511464 - 3512895 on Build GRCh38	Gain	TRPV3 SPATA22
esv2660206	Chr.17:2679367 - 3519614 on Build GRCh38	Deletion	MIR1253 LOC105371592 OR3A3 CLUH OR1D2 OR3A2 OR1E2 TRPV3 OR1A1 CCDC92B OR1G1 OR3A1 RAP1GAP2 LOC105371591 PAFAH1B1 OR1D5 ASPA OR1A2 OR3A4P OR1E1 MIR6776 LOC101927911 SPATA22 OR1D4
nsv1055740	Chr.17:3381841 - 3890153 on Build GRCh38	Gain	CTNS CAMKK1 P2RX5-TAX1BP3 ITGAE OR3A3 OR3A2 TRPV1 EMC6 OR1E2 TRPV3 TAX1BP3 P2RX5 ASPA SHPK OR1E1 GSG2 NCBP3 SPATA22
nsv833341	Chr.17:3352243 - 3521390 on Build GRCh38	Loss	OR3A3 ASPA OR3A2 OR1E1 OR1E2 TRPV3 SPATA22
nsv1060071	Chr.17:3398474 - 3633472 on Build GRCh38	Loss	OR3A3 ASPA TRPV1 SHPK OR1E2 TRPV3 SPATA22

More Information

• Set Membership: Intragenic, Exonic, 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