Hs03435060_cn

• Gene Symbol: RPIA
• Assay Reference Genome Location: Chr.2:88729188 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: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPIA	NM_144563.2			NP_653164.2
	AY050633.1			AAK95569.1
	BC015529.1
	CB989690.1

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	LOC101928403 LOC101928371 ANKRD36BP2 FOXI3 EIF2AK3 MIR4436A RPIA TEX37
dgv61n16	Chr.2:87343737 - 90254660 on Build GRCh38	Deletion	KRCC1 LOC101928371 IGKV3D-15 IGKV1D-13 PLGLB2 LOC730268 SMYD1 IGKV2-26 FOXI3 THNSL2 EIF2AK3 IGKV2-29 IGKV1D-8 MIR4436A FABP1 MIR4435-1 IGKC IGKV2-24 LOC101928403 MIR4780 RGPD2 ANKRD36BP2 IGKV1-5 LINC00152 LOC107985911 LOC101927050 IGK IGKV3-20 RPIA TEX37
esv2509341	Chr.2:88729035 - 88733389 on Build GRCh38	Deletion	RPIA
dgv6947n54	Chr.2:87815738 - 88850700 on Build GRCh38	Gain	KRCC1 LOC101928403 LOC101928371 MIR4780 RGPD2 ANKRD36BP2 SMYD1 FOXI3 THNSL2 EIF2AK3 MIR4436A FABP1 RPIA TEX37
nsv1072005	Chr.2:87360367 - 90256528 on Build GRCh38	Deletion	KRCC1 LOC101928371 IGKV3D-15 IGKV1D-13 PLGLB2 LOC730268 SMYD1 IGKV2-26 FOXI3 THNSL2 EIF2AK3 IGKV2-29 IGKV1D-8 MIR4436A FABP1 MIR4435-1 IGKC IGKV2-24 LOC101928403 MIR4780 RGPD2 ANKRD36BP2 IGKV1-5 LINC00152 LOC107985911 LOC101927050 IGK IGKV3-20 RPIA TEX37
nsv834290	Chr.2:88686704 - 88894261 on Build GRCh38	Loss	ANKRD36BP2 IGK MIR4436A RPIA IGKC
nsv1130752	Chr.2:87360364 - 90256525 on Build GRCh38	Deletion	KRCC1 LOC101928371 IGKV3D-15 IGKV1D-13 PLGLB2 LOC730268 SMYD1 IGKV2-26 FOXI3 THNSL2 EIF2AK3 IGKV2-29 IGKV1D-8 MIR4436A FABP1 MIR4435-1 IGKC IGKV2-24 LOC101928403 MIR4780 RGPD2 ANKRD36BP2 IGKV1-5 LINC00152 LOC107985911 LOC101927050 IGK IGKV3-20 RPIA TEX37
nsv582384	Chr.2:87987149 - 88773214 on Build GRCh38	Loss	KRCC1 LOC101928403 LOC101928371 MIR4780 RGPD2 ANKRD36BP2 SMYD1 FOXI3 THNSL2 EIF2AK3 FABP1 RPIA TEX37
nsv582386	Chr.2:88035188 - 89208087 on Build GRCh38	Loss	IGKV2-24 KRCC1 LOC101928403 LOC101928371 MIR4780 ANKRD36BP2 IGKV1-5 SMYD1 IGKV2-26 FOXI3 THNSL2 IGK EIF2AK3 MIR4436A IGKV3-20 FABP1 RPIA TEX37 IGKC

More Information

• Set Membership: Intragenic, Intronic, 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