Hs07536042_cn

• Gene Symbol: SPATA22
• Assay Reference Genome Location: Chr.17:3511668 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	4947	NP_001245134.1
	NM_145068.3	18	4944	NP_659505.1
	AK127330.1	6	2943
	AK127726.1	12	3896
	BX537539.1	12	3884

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

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