Hs04567076_cn

• Gene Symbol: RPIA
• Assay Reference Genome Location: Chr.2:88707507 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	MIR4436A ANKRD36BP2 RPIA LOC101928371 LOC101928403 FOXI3 TEX37 EIF2AK3
dgv61n16	Chr.2:87343737 - 90254660 on Build GRCh38	Deletion	MIR4780 KRCC1 LOC730268 IGKV1D-13 RPIA LOC101928371 LOC101927050 IGKC THNSL2 IGKV3-20 MIR4436A IGKV1-5 IGKV2-29 IGK MIR4435-1 PLGLB2 LOC101928403 SMYD1 FABP1 ANKRD36BP2 LOC107985911 IGKV3D-15 IGKV2-24 RGPD2 IGKV1D-8 IGKV2-26 LINC00152 FOXI3 TEX37 EIF2AK3
nsv1072005	Chr.2:87360367 - 90256528 on Build GRCh38	Deletion	MIR4780 KRCC1 LOC730268 IGKV1D-13 RPIA LOC101928371 LOC101927050 IGKC THNSL2 IGKV3-20 MIR4436A IGKV1-5 IGKV2-29 IGK MIR4435-1 PLGLB2 LOC101928403 SMYD1 FABP1 ANKRD36BP2 LOC107985911 IGKV3D-15 IGKV2-24 RGPD2 IGKV1D-8 IGKV2-26 LINC00152 FOXI3 TEX37 EIF2AK3
dgv6947n54	Chr.2:87815738 - 88850700 on Build GRCh38	Gain	SMYD1 MIR4780 FABP1 ANKRD36BP2 KRCC1 RPIA LOC101928371 RGPD2 THNSL2 MIR4436A LOC101928403 FOXI3 TEX37 EIF2AK3
nsv1148611	Chr.2:87360364 - 90256525 on Build GRCh38	Deletion	MIR4780 KRCC1 LOC730268 IGKV1D-13 RPIA LOC101928371 LOC101927050 IGKC THNSL2 IGKV3-20 MIR4436A IGKV1-5 IGKV2-29 IGK MIR4435-1 PLGLB2 LOC101928403 SMYD1 FABP1 ANKRD36BP2 LOC107985911 IGKV3D-15 IGKV2-24 RGPD2 IGKV1D-8 IGKV2-26 LINC00152 FOXI3 TEX37 EIF2AK3
nsv834290	Chr.2:88686704 - 88894261 on Build GRCh38	Loss	MIR4436A ANKRD36BP2 IGK RPIA IGKC
nsv582384	Chr.2:87987149 - 88773214 on Build GRCh38	Loss	SMYD1 MIR4780 FABP1 ANKRD36BP2 KRCC1 RPIA LOC101928371 RGPD2 THNSL2 LOC101928403 FOXI3 TEX37 EIF2AK3
nsv582386	Chr.2:88035188 - 89208087 on Build GRCh38	Loss	SMYD1 MIR4780 FABP1 ANKRD36BP2 KRCC1 RPIA IGKV2-24 LOC101928371 IGKC THNSL2 IGKV3-20 MIR4436A IGKV1-5 IGKV2-26 IGK LOC101928403 FOXI3 TEX37 EIF2AK3

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