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: | Overlaps Exon 5 - Exon 6 |
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 | XP_005262045.1 | |||
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | BAB71438.1 | |||
AK292871.1 | ||||
AK304179.1 | ||||
BC036767.1 | AAH36767.1 | |||
BM978850.1 | ||||
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 | MIR4536-2 IQSEC2 KANTR XAGE3 FAM156A APEX2 TRO KDM5C FAM156B PFKFB1 MIR4536-1 PAGE5 PAGE2 MAGEH1 MIR98 MTRNR2L10 HUWE1 TSR2 FOXR2 USP51 PAGE3 GPR173 MIRLET7F2 MAGED2 SNORA109 FAM120C MIR6895 RIBC1 TSPYL2 LOC100421746 MIR6894 PAGE2B SMC1A HSD17B10 ITIH6 PHF8 FGD1 MIR6857 GNL3L WNK3 ALAS2 SNORA11 FAM104B |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR4536-2 IQSEC2 KANTR XAGE3 FAM156A APEX2 TRO KDM5C FAM156B PFKFB1 MIR4536-1 PAGE5 PAGE2 MAGEH1 MIR98 MTRNR2L10 HUWE1 TSR2 FOXR2 USP51 PAGE3 GPR173 MIRLET7F2 MAGED2 SNORA109 FAM120C MIR6895 RIBC1 TSPYL2 LOC100421746 MIR6894 PAGE2B SMC1A HSD17B10 ITIH6 PHF8 FGD1 MIR6857 GNL3L WNK3 ALAS2 SNORA11 FAM104B |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | SMC1A HSD17B10 RIBC1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |