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