Hs02593702_cn

• Gene Symbol: RRP1
• Assay Reference Genome Location: Chr.21:43792786 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 8568
• Gene Name: ribosomal RNA processing 1
• Gene Aliases: D21S2056E, NNP-1, NOP52, RRP1A
• Location: Chr.21:43789537-43804102 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RRP1	NM_003683.5			NP_003674.1
	XM_017028485.1			XP_016883974.1
	XM_017028486.1			XP_016883975.1
	AK223185.1			BAD96905.1
	AK223215.1			BAD96935.1
	AK303000.1
	AK313116.1
	BC000380.2			AAH00380.1
	BC014787.1			AAH14787.2
	DA275615.1
	U79775.1			AAC51625.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv587718	Chr.21:43791051 - 43832957 on Build GRCh38	Loss	RRP1 AATBC
nsv509799	Chr.21:43724009 - 43852846 on Build GRCh38	Insertion	CSTB LOC105372824 PDXK RRP1 AATBC
nsv834108	Chr.21:43758156 - 43949760 on Build GRCh38	Loss	CSTB PDXK RRP1 AATBC AGPAT3
nsv953642	Chr.21:43731220 - 43827719 on Build GRCh38	Deletion	CSTB LOC105372824 PDXK RRP1 AATBC
nsv834107	Chr.21:43735444 - 43874665 on Build GRCh38	Loss	CSTB LOC105372824 PDXK RRP1 AATBC AGPAT3
nsv470904	Chr.21:43731164 - 43838166 on Build GRCh38	Loss	CSTB LOC105372824 PDXK RRP1 AATBC
esv33817	Chr.21:43749531 - 44647625 on Build GRCh38	Loss	KRTAP10-10 KRTAP10-9 TRPM2-AS KRTAP10-2 TRAPPC10 KRTAP10-5 AIRE CSTB C21orf2 KRTAP10-6 KRTAP10-4 TSPEAR-AS2 LRRC3-AS1 TSPEAR KRTAP10-8 AGPAT3 DNMT3L LRRC3 TSPEAR-AS1 PDXK ICOSLG TRPM2 KRTAP10-1 PFKL RRP1 LOC100505727 C21orf33 AATBC LOC105372833 KRTAP10-7 PWP2 KRTAP10-11 KRTAP10-3
nsv520305	Chr.21:43756077 - 43826445 on Build GRCh38	Loss	CSTB PDXK RRP1 AATBC

More Information

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

Gene Ontology Categories:

Process(es)

rRNA processing

Function(s)

poly(A) RNA binding