Hs01045921_cn

• Gene Symbol: RIBC1
• Assay Reference Genome Location: Chr.X:53428340 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: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIBC1	NM_001031745.4	5	495	NP_001026915.1
	NM_001267053.3			NP_001253982.1
	NM_144968.3	5	495	NP_659405.1
	XM_005261988.3	5	703	XP_005262045.1
	XM_005261990.3			XP_005262047.1
	AK057345.1	5	461	BAB71438.1
	AK290346.1	5	445
	AK292871.1	5	450
	AK304179.1
	BC036767.1	5	410	AAH36767.1
	CF272701.1

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Function(s)

protein binding