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