Hs07536036_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3512415 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	4200	NP_001245134.1
	NM_145068.3	18	4197	NP_659505.1
	AK127330.1	6	2196
	AK127726.1	12	3149
	BX537539.1	12	3137

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

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