Hs01406990_cn

• Gene Symbol: RIBC1
• Assay Reference Genome Location: Chr.X:53423331 on build GRCh38
• Cytoband: Xp11.22

Target Gene Details

• Entrez Gene ID: 158787
• Gene Name: RIB43A domain with coiled-coils 1
• Gene Aliases: 2610028I09Rik
• Location: Chr.X:53422782-53431120 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIBC1	NM_001031745.4			NP_001026915.1
	NM_001267053.3			NP_001253982.1
	NM_144968.3			NP_659405.1
	XM_005261988.3			XP_005262045.1
	XM_005261990.3			XP_005262047.1
	AK057345.1			BAB71438.1
	AK290346.1
	AK292871.1
	AK304179.1
	BC036767.1			AAH36767.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2740175	Chr.X:52862926 - 55652533 on Build GRCh38	Deletion	PAGE3 WNK3 SNORA109 IQSEC2 SMC1A TSPYL2 SNORA11 MIR98 XAGE3 PAGE2B PHF8 PAGE2 GPR173 USP51 MAGEH1 MIR6894 KDM5C TRO FAM120C MIR6857 FOXR2 ITIH6 LOC100421746 TSR2 HSD17B10 FGD1 ALAS2 APEX2 GNL3L PAGE5 MAGED2 FAM156B PFKFB1 MIRLET7F2 FAM156A MIR6895 MTRNR2L10 HUWE1 FAM104B MIR4536-2 MIR4536-1 RIBC1 KANTR
nsv435891	Chr.X:52861979 - 55653313 on Build GRCh38	Deletion	PAGE3 WNK3 SNORA109 IQSEC2 SMC1A TSPYL2 SNORA11 MIR98 XAGE3 PAGE2B PHF8 PAGE2 GPR173 USP51 MAGEH1 MIR6894 KDM5C TRO FAM120C MIR6857 FOXR2 ITIH6 LOC100421746 TSR2 HSD17B10 FGD1 ALAS2 APEX2 GNL3L PAGE5 MAGED2 FAM156B PFKFB1 MIRLET7F2 FAM156A MIR6895 MTRNR2L10 HUWE1 FAM104B MIR4536-2 MIR4536-1 RIBC1 KANTR
nsv6908	Chr.X:53412544 - 53446505 on Build GRCh38	Insertion	HSD17B10 SMC1A RIBC1

More Information

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

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Function(s)

protein binding