Hs00428644_cn

• Gene Symbol: RIBC1
• Assay Reference Genome Location: Chr.X:53430802 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 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIBC1	NM_001031745.4			NP_001026915.1
	NM_001267053.3	6	963	NP_001253982.1
	XM_005261988.3			XP_005262045.1
	XM_005261990.3			XP_005262047.1
	AI127598.1
	AK292871.1
	AK304179.1	6	963
	BC036767.1			AAH36767.1
	BF433577.1	1	319
	BM978850.1
	CA433728.1

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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Function(s)

protein binding