Hs01906166_cn

• Gene Symbol: RIBC2
• Assay Reference Genome Location: Chr.22:45413715 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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIBC2	NM_015653.4			NP_056468.3
	XM_017028766.1			XP_016884255.1
	AK098586.1
	AK225722.1
	AL442116.1			CAC09526.1
	BC003024.1			AAH03024.1
	BC009904.2			AAH09904.1

Target Gene Details

• Entrez Gene ID: 27127
• Gene Name: structural maintenance of chromosomes 1B
• Gene Aliases: SMC1BETA, SMC1L2
• Location: Chr.22:45344063-45413671 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMC1B	XM_011530145.2			XP_011528447.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv515690	Chr.22:45362878 - 45415482 on Build GRCh38	Gain+Loss	RIBC2 SMC1B
nsv1066204	Chr.22:45254728 - 45870451 on Build GRCh38	Gain	MIR4762 LINC01589 FAM118A FBLN1 ATXN10 RIBC2 LOC105373065 SMC1B UPK3A
nsv3651	Chr.22:45403708 - 45435552 on Build GRCh38	Insertion	RIBC2 SMC1B
nsv834221	Chr.22:45383909 - 45578311 on Build GRCh38	Loss	FBLN1 RIBC2 SMC1B
esv3647931	Chr.22:45382351 - 45517601 on Build GRCh38	Gain	FBLN1 RIBC2 SMC1B
esv34218	Chr.22:45254944 - 45515710 on Build GRCh38	Gain	FAM118A FBLN1 RIBC2 LOC105373065 SMC1B UPK3A
nsv9921	Chr.22:45247876 - 45514132 on Build GRCh38	Gain+Loss	FAM118A FBLN1 RIBC2 LOC105373065 SMC1B UPK3A
esv2758843	Chr.22:45178343 - 45529286 on Build GRCh38	Gain	FAM118A KIAA0930 FBLN1 NUP50 RIBC2 LOC105373065 MIR1249 SMC1B UPK3A
nsv471210	Chr.22:45315973 - 45415482 on Build GRCh38	Gain	FAM118A RIBC2 SMC1B
esv3647921	Chr.22:45247581 - 45517162 on Build GRCh38	Gain	FAM118A FBLN1 RIBC2 LOC105373065 SMC1B UPK3A

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Process(es)

sister chromatid cohesion
meiotic nuclear division

Function(s)

protein binding
DNA binding
ATP binding