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 | 7 | 981 | NP_001026915.1 |
NM_001267053.3 | 6 | 636 | NP_001253982.1 | |
XM_005261988.3 | 7 | 1189 | XP_005262045.1 | |
XM_005261990.3 | 6 | 710 | XP_005262047.1 | |
AK292871.1 | 7 | 936 | ||
AK304179.1 | 6 | 636 | ||
BC036767.1 | 7 | 896 | AAH36767.1 | |
BM978850.1 | 2 | 541 | ||
CF272701.1 | 1 | 99 |
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 | KDM5C GNL3L PFKFB1 MAGEH1 ITIH6 HSD17B10 PAGE2 ALAS2 PAGE3 SNORA109 MIR6894 MIRLET7F2 RIBC1 USP51 TRO MIR6857 TSR2 PAGE2B SMC1A FAM104B IQSEC2 PHF8 KANTR LOC100421746 FOXR2 MIR4536-1 FAM120C MAGED2 MIR6895 MTRNR2L10 TSPYL2 HUWE1 MIR98 FAM156A FGD1 MIR4536-2 SNORA11 XAGE3 GPR173 FAM156B PAGE5 APEX2 WNK3 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | KDM5C GNL3L PFKFB1 MAGEH1 ITIH6 HSD17B10 PAGE2 ALAS2 PAGE3 SNORA109 MIR6894 MIRLET7F2 RIBC1 USP51 TRO MIR6857 TSR2 PAGE2B SMC1A FAM104B IQSEC2 PHF8 KANTR LOC100421746 FOXR2 MIR4536-1 FAM120C MAGED2 MIR6895 MTRNR2L10 TSPYL2 HUWE1 MIR98 FAM156A FGD1 MIR4536-2 SNORA11 XAGE3 GPR173 FAM156B PAGE5 APEX2 WNK3 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | SMC1A HSD17B10 RIBC1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |