Hs01884271_cn

• Gene Symbol: RPIA
• Assay Reference Genome Location: Chr.2:88738077 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 22934
• Gene Name: ribose 5-phosphate isomerase A
• Gene Aliases: RPI, RPIAD
• Location: Chr.2:88691658-88750935 on Build GRCh38
• Assay Gene Location: Overlaps Exon 8 - Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPIA	NM_144563.2			NP_653164.2
	AY050633.1			AAK95569.1
	BC015529.1
	L35035.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470476	Chr.2:88384248 - 88829483 on Build GRCh38	Gain	RPIA FOXI3 TEX37 ANKRD36BP2 LOC101928371 LOC101928403 EIF2AK3 MIR4436A
dgv61n16	Chr.2:87343737 - 90254660 on Build GRCh38	Deletion	IGKV1D-13 KRCC1 RPIA IGKV3D-15 RGPD2 MIR4780 THNSL2 MIR4435-1 LOC101928371 EIF2AK3 IGKV1-5 FOXI3 SMYD1 IGKV3-20 PLGLB2 IGKC IGKV1D-8 IGK LOC107985911 IGKV2-29 LOC730268 LOC101927050 IGKV2-24 TEX37 ANKRD36BP2 LOC101928403 IGKV2-26 FABP1 LINC00152 MIR4436A
nsv1072005	Chr.2:87360367 - 90256528 on Build GRCh38	Deletion	IGKV1D-13 KRCC1 RPIA IGKV3D-15 RGPD2 MIR4780 THNSL2 MIR4435-1 LOC101928371 EIF2AK3 IGKV1-5 FOXI3 SMYD1 IGKV3-20 PLGLB2 IGKC IGKV1D-8 IGK LOC107985911 IGKV2-29 LOC730268 LOC101927050 IGKV2-24 TEX37 ANKRD36BP2 LOC101928403 IGKV2-26 FABP1 LINC00152 MIR4436A
dgv6947n54	Chr.2:87815738 - 88850700 on Build GRCh38	Gain	KRCC1 RPIA FOXI3 SMYD1 RGPD2 MIR4780 THNSL2 TEX37 ANKRD36BP2 LOC101928371 LOC101928403 EIF2AK3 FABP1 MIR4436A
nsv1148611	Chr.2:87360364 - 90256525 on Build GRCh38	Deletion	IGKV1D-13 KRCC1 RPIA IGKV3D-15 RGPD2 MIR4780 THNSL2 MIR4435-1 LOC101928371 EIF2AK3 IGKV1-5 FOXI3 SMYD1 IGKV3-20 PLGLB2 IGKC IGKV1D-8 IGK LOC107985911 IGKV2-29 LOC730268 LOC101927050 IGKV2-24 TEX37 ANKRD36BP2 LOC101928403 IGKV2-26 FABP1 LINC00152 MIR4436A
nsv834290	Chr.2:88686704 - 88894261 on Build GRCh38	Loss	RPIA IGKC ANKRD36BP2 IGK MIR4436A
nsv582384	Chr.2:87987149 - 88773214 on Build GRCh38	Loss	KRCC1 RPIA FOXI3 SMYD1 RGPD2 MIR4780 THNSL2 TEX37 ANKRD36BP2 LOC101928371 LOC101928403 EIF2AK3 FABP1
nsv582386	Chr.2:88035188 - 89208087 on Build GRCh38	Loss	KRCC1 IGKV1-5 RPIA FOXI3 SMYD1 MIR4780 IGKV3-20 THNSL2 IGKC IGK IGKV2-24 TEX37 ANKRD36BP2 LOC101928371 LOC101928403 EIF2AK3 IGKV2-26 FABP1 MIR4436A

More Information

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

Panther Classification:

Molecular Function -

isomerase

Gene Ontology Categories:

Process(es)

pentose-phosphate shunt
pentose-phosphate shunt, non-oxidative branch

Function(s)

ribose-5-phosphate isomerase activity
protein binding
monosaccharide binding