Hs04080212_cn

• Gene Symbol: RIBC2
• Assay Reference Genome Location: Chr.22:45425581 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 Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIBC2	NM_015653.4			NP_056468.3
	XM_005261524.4			XP_005261581.1
	XM_011530126.2			XP_011528428.1
	AK098586.1
	AK225722.1
	AL442116.1			CAC09526.1
	BC003024.1			AAH03024.1
	BC009904.2			AAH09904.1
	CR456438.1			CAG30324.1
	CR457398.1			CAG33679.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647932	Chr.22:45418035 - 45484463 on Build GRCh38	Gain	RIBC2
nsv1066204	Chr.22:45254728 - 45870451 on Build GRCh38	Gain	RIBC2 FBLN1 FAM118A UPK3A SMC1B LOC105373065 MIR4762 ATXN10 LINC01589
nsv3651	Chr.22:45403708 - 45435552 on Build GRCh38	Insertion	RIBC2 SMC1B
nsv834221	Chr.22:45383909 - 45578311 on Build GRCh38	Loss	RIBC2 FBLN1 SMC1B
esv3647931	Chr.22:45382351 - 45517601 on Build GRCh38	Gain	RIBC2 FBLN1 SMC1B
esv34218	Chr.22:45254944 - 45515710 on Build GRCh38	Gain	RIBC2 FBLN1 FAM118A UPK3A SMC1B LOC105373065
nsv9921	Chr.22:45247876 - 45514132 on Build GRCh38	Gain+Loss	RIBC2 FBLN1 FAM118A UPK3A SMC1B LOC105373065
esv2758843	Chr.22:45178343 - 45529286 on Build GRCh38	Gain	RIBC2 FBLN1 FAM118A KIAA0930 MIR1249 UPK3A SMC1B LOC105373065 NUP50
esv3647921	Chr.22:45247581 - 45517162 on Build GRCh38	Gain	RIBC2 FBLN1 FAM118A UPK3A SMC1B LOC105373065

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Function(s)

protein binding