Hs04955095_cn

• Gene Symbol: RP9
• Assay Reference Genome Location: Chr.7:33096348 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RP9	NM_203288.1			NP_976033.1
	XM_011515468.2			XP_011513770.1
	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	KBTBD2 FKBP9 RP9 RP9P NT5C3A BBS9
dgv1080e201	Chr.7:32621750 - 35008557 on Build GRCh38	Deletion	NPSR1 NPSR1-AS1 RP9P MIR550B2 MIR550A2 FLJ20712 NT5C3A BBS9 DPY19L1P2 KBTBD2 FKBP9 RP9 ZNRF2P1 MIR548N DPY19L1 LINC00997 DPY19L1P1 BMPER LOC100421336
nsv830942	Chr.7:33008463 - 33207123 on Build GRCh38	Gain	RP9 NT5C3A BBS9
dgv1880e212	Chr.7:33086050 - 33150400 on Build GRCh38	Gain	RP9 BBS9
esv2761318	Chr.7:33091075 - 33145870 on Build GRCh38	Gain	RP9 BBS9
dgv1278e214	Chr.7:33090999 - 33149398 on Build GRCh38	Gain	RP9 BBS9
nsv508450	Chr.7:33083723 - 33145236 on Build GRCh38	Deletion	RP9 BBS9
dgv6319n100	Chr.7:33084393 - 33150979 on Build GRCh38	Gain	RP9 BBS9
dgv11272n54	Chr.7:33092117 - 33156742 on Build GRCh38	Gain	RP9 BBS9
nsv1135982	Chr.7:32794601 - 34893593 on Build GRCh38	Deletion	DPY19L1P2 KBTBD2 FKBP9 NPSR1 RP9 NPSR1-AS1 RP9P FLJ20712 BMPER NT5C3A LOC100421336 BBS9
nsv436907	Chr.7:32668474 - 34999437 on Build GRCh38	Insertion	NPSR1 NPSR1-AS1 RP9P MIR550B2 MIR550A2 FLJ20712 NT5C3A BBS9 DPY19L1P2 KBTBD2 FKBP9 RP9 ZNRF2P1 MIR548N DPY19L1 LINC00997 DPY19L1P1 BMPER LOC100421336

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