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 | 1921 | NP_659405.1 | |
XM_005261988.3 | XP_005262045.1 | |||
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | 5 | 1887 | BAB71438.1 | |
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 | USP51 SNORA11 GNL3L APEX2 ALAS2 MIR6857 MTRNR2L10 FAM120C SNORA109 FAM156A MIR6894 PAGE3 MIRLET7F2 MAGEH1 KDM5C FAM156B TSPYL2 KANTR WNK3 MIR98 PHF8 MIR6895 ITIH6 RIBC1 MAGED2 HSD17B10 FOXR2 PAGE2 PAGE5 SMC1A PFKFB1 GPR173 IQSEC2 LOC100421746 XAGE3 FAM104B MIR4536-2 PAGE2B FGD1 TSR2 HUWE1 MIR4536-1 TRO |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | USP51 SNORA11 GNL3L APEX2 ALAS2 MIR6857 MTRNR2L10 FAM120C SNORA109 FAM156A MIR6894 PAGE3 MIRLET7F2 MAGEH1 KDM5C FAM156B TSPYL2 KANTR WNK3 MIR98 PHF8 MIR6895 ITIH6 RIBC1 MAGED2 HSD17B10 FOXR2 PAGE2 PAGE5 SMC1A PFKFB1 GPR173 IQSEC2 LOC100421746 XAGE3 FAM104B MIR4536-2 PAGE2B FGD1 TSR2 HUWE1 MIR4536-1 TRO |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | RIBC1 HSD17B10 SMC1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |