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 5 |
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 | 5 | 863 | NP_659405.1 | |
XM_005261988.3 | XP_005262045.1 | |||
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | 5 | 829 | BAB71438.1 | |
AK290346.1 | 5 | 813 | ||
AK292871.1 | ||||
AK304179.1 | ||||
BC036767.1 | 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 | GPR173 IQSEC2 SNORA11 LOC100421746 PAGE3 PAGE2 TRO XAGE3 MAGED2 USP51 ITIH6 APEX2 SMC1A PAGE5 MIRLET7F2 KDM5C FGD1 SNORA109 MIR4536-2 MIR6894 MIR98 HSD17B10 PFKFB1 FAM120C MIR6895 PHF8 HUWE1 MIR4536-1 MAGEH1 FAM156B TSR2 TSPYL2 FAM104B RIBC1 FOXR2 WNK3 GNL3L FAM156A MIR6857 ALAS2 KANTR MTRNR2L10 PAGE2B |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | GPR173 IQSEC2 SNORA11 LOC100421746 PAGE3 PAGE2 TRO XAGE3 MAGED2 USP51 ITIH6 APEX2 SMC1A PAGE5 MIRLET7F2 KDM5C FGD1 SNORA109 MIR4536-2 MIR6894 MIR98 HSD17B10 PFKFB1 FAM120C MIR6895 PHF8 HUWE1 MIR4536-1 MAGEH1 FAM156B TSR2 TSPYL2 FAM104B RIBC1 FOXR2 WNK3 GNL3L FAM156A MIR6857 ALAS2 KANTR MTRNR2L10 PAGE2B |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | HSD17B10 RIBC1 SMC1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |