Assay Details
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 1 |
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 | 1 | 123 | XP_005262045.1 | |
XM_005261990.3 | 1 | 123 | XP_005262047.1 | |
AK057345.1 | BAB71438.1 | |||
AK290346.1 | ||||
AK292871.1 | ||||
AK304179.1 |
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 | GNL3L PFKFB1 FOXR2 TSPYL2 FAM156A KDM5C MIR6894 MIR6857 FAM156B ITIH6 SNORA11 FAM104B TRO MAGEH1 LOC100421746 USP51 FGD1 PAGE2 PHF8 HUWE1 KANTR TSR2 PAGE2B SMC1A SNORA109 PAGE3 FAM120C RIBC1 APEX2 MIR4536-2 HSD17B10 WNK3 MIR6895 MIRLET7F2 MTRNR2L10 IQSEC2 GPR173 ALAS2 MIR98 PAGE5 MIR4536-1 XAGE3 MAGED2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | GNL3L PFKFB1 FOXR2 TSPYL2 FAM156A KDM5C MIR6894 MIR6857 FAM156B ITIH6 SNORA11 FAM104B TRO MAGEH1 LOC100421746 USP51 FGD1 PAGE2 PHF8 HUWE1 KANTR TSR2 PAGE2B SMC1A SNORA109 PAGE3 FAM120C RIBC1 APEX2 MIR4536-2 HSD17B10 WNK3 MIR6895 MIRLET7F2 MTRNR2L10 IQSEC2 GPR173 ALAS2 MIR98 PAGE5 MIR4536-1 XAGE3 MAGED2 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | SMC1A RIBC1 HSD17B10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |