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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RIBC1 | NM_001031745.4 | 8 | 1371 | NP_001026915.1 |
NM_001267053.3 | 6 | 1142 | NP_001253982.1 | |
XM_005261988.3 | 8 | 1579 | XP_005262045.1 | |
XM_005261990.3 | 7 | 1100 | XP_005262047.1 | |
AI127598.1 | 1 | 133 | ||
AK292871.1 | 8 | 1326 | ||
BC036767.1 | 8 | 1286 | AAH36767.1 | |
BF433577.1 | 1 | 140 | ||
BM978850.1 | 1 | 151 | ||
CA433728.1 | 1 | 145 |
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 | FAM156B FAM156A HUWE1 MIRLET7F2 MAGEH1 FGD1 FAM120C MTRNR2L10 SMC1A PAGE3 LOC100421746 PHF8 MAGED2 GNL3L PAGE2B IQSEC2 MIR6857 KDM5C TSPYL2 SNORA109 RIBC1 FOXR2 PFKFB1 ALAS2 MIR4536-2 FAM104B GPR173 SNORA11 WNK3 ITIH6 APEX2 MIR4536-1 PAGE2 USP51 KANTR HSD17B10 MIR6895 XAGE3 TSR2 TRO MIR6894 MIR98 PAGE5 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | FAM156B FAM156A HUWE1 MIRLET7F2 MAGEH1 FGD1 FAM120C MTRNR2L10 SMC1A PAGE3 LOC100421746 PHF8 MAGED2 GNL3L PAGE2B IQSEC2 MIR6857 KDM5C TSPYL2 SNORA109 RIBC1 FOXR2 PFKFB1 ALAS2 MIR4536-2 FAM104B GPR173 SNORA11 WNK3 ITIH6 APEX2 MIR4536-1 PAGE2 USP51 KANTR HSD17B10 MIR6895 XAGE3 TSR2 TRO MIR6894 MIR98 PAGE5 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | HSD17B10 SMC1A RIBC1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |