Hs04994167_cn

• Gene Symbol: RP9
• Assay Reference Genome Location: Chr.7:33107526 on build GRCh38
• Cytoband: 7p14.3

Target Gene Details

• Entrez Gene ID: 6100
• Gene Name: retinitis pigmentosa 9 (autosomal dominant)
• Gene Aliases: PAP-1, PAP1
• Location: Chr.7:33094797-33109390 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RP9	NM_203288.1			NP_976033.1
	BC025928.1			AAH25928.2

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1029220	Chr.7:32881872 - 33222578 on Build GRCh38	Gain	RP9P KBTBD2 FKBP9 NT5C3A BBS9 RP9
dgv1080e201	Chr.7:32621750 - 35008557 on Build GRCh38	Deletion	RP9P LINC00997 LOC100421336 MIR550A2 FKBP9 MIR550B2 DPY19L1P2 NT5C3A MIR548N KBTBD2 DPY19L1 BMPER NPSR1-AS1 FLJ20712 NPSR1 DPY19L1P1 ZNRF2P1 BBS9 RP9
nsv830942	Chr.7:33008463 - 33207123 on Build GRCh38	Gain	NT5C3A BBS9 RP9
dgv1880e212	Chr.7:33086050 - 33150400 on Build GRCh38	Gain	BBS9 RP9
esv2761318	Chr.7:33091075 - 33145870 on Build GRCh38	Gain	BBS9 RP9
dgv1278e214	Chr.7:33090999 - 33149398 on Build GRCh38	Gain	BBS9 RP9
nsv508450	Chr.7:33083723 - 33145236 on Build GRCh38	Deletion	BBS9 RP9
dgv6319n100	Chr.7:33084393 - 33150979 on Build GRCh38	Gain	BBS9 RP9
dgv11272n54	Chr.7:33092117 - 33156742 on Build GRCh38	Gain	BBS9 RP9
nsv1135982	Chr.7:32794601 - 34893593 on Build GRCh38	Deletion	RP9P KBTBD2 LOC100421336 FKBP9 BMPER NPSR1-AS1 FLJ20712 NPSR1 DPY19L1P2 NT5C3A BBS9 RP9
nsv436907	Chr.7:32668474 - 34999437 on Build GRCh38	Insertion	RP9P LINC00997 LOC100421336 MIR550A2 FKBP9 MIR550B2 DPY19L1P2 NT5C3A MIR548N KBTBD2 DPY19L1 BMPER NPSR1-AS1 FLJ20712 NPSR1 DPY19L1P1 ZNRF2P1 BBS9 RP9

More Information

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

Gene Ontology Categories:

Process(es)

RNA splicing
cognition

Function(s)

protein binding
poly(A) RNA binding
metal ion binding