Hs00451123_cn

• Gene Symbol: RIBC2
• Assay Reference Genome Location: Chr.22:45417722 on build GRCh38
• Cytoband: 22q13.31

Target Gene Details

• Entrez Gene ID: 26150
• Gene Name: RIB43A domain with coiled-coils 2
• Gene Aliases: C22orf11, TRIB
• Location: Chr.22:45413691-45432422 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIBC2	NM_015653.4	3	528	NP_056468.3
	XM_005261524.4	3	353	XP_005261581.1
	XM_017028766.1	3	450	XP_016884255.1
	AK098586.1	3	528
	AK225722.1	3	509
	AL442116.1	3	479	CAC09526.1
	BC003024.1	3	490	AAH03024.1
	BC009904.2	3	490	AAH09904.1
	CR456438.1	1	122	CAG30324.1
	CR457398.1	1	113	CAG33679.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1066204	Chr.22:45254728 - 45870451 on Build GRCh38	Gain	LOC105373065 UPK3A SMC1B FBLN1 ATXN10 MIR4762 RIBC2 FAM118A LINC01589
nsv834221	Chr.22:45383909 - 45578311 on Build GRCh38	Loss	SMC1B FBLN1 RIBC2
nsv3651	Chr.22:45403708 - 45435552 on Build GRCh38	Insertion	SMC1B RIBC2
esv34218	Chr.22:45254944 - 45515710 on Build GRCh38	Gain	LOC105373065 UPK3A SMC1B FBLN1 RIBC2 FAM118A
esv3647931	Chr.22:45382351 - 45517601 on Build GRCh38	Gain	SMC1B FBLN1 RIBC2
esv2758843	Chr.22:45178343 - 45529286 on Build GRCh38	Gain	LOC105373065 UPK3A NUP50 SMC1B FBLN1 RIBC2 FAM118A MIR1249 KIAA0930
nsv9921	Chr.22:45247876 - 45514132 on Build GRCh38	Gain+Loss	LOC105373065 UPK3A SMC1B FBLN1 RIBC2 FAM118A
esv3647921	Chr.22:45247581 - 45517162 on Build GRCh38	Gain	LOC105373065 UPK3A SMC1B FBLN1 RIBC2 FAM118A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Function(s)

protein binding