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 | 5 | 609 | NP_001026915.1 |
NM_001267053.3 | NP_001253982.1 | |||
NM_144968.3 | 5 | 609 | NP_659405.1 | |
XM_005261988.3 | 5 | 817 | XP_005262045.1 | |
XM_005261990.3 | XP_005262047.1 | |||
AK057345.1 | 5 | 575 | BAB71438.1 | |
AK290346.1 | 5 | 559 | ||
AK292871.1 | 5 | 564 | ||
AK304179.1 | ||||
BC036767.1 | 5 | 524 | 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 | FGD1 FAM156A MAGED2 PFKFB1 RIBC1 FOXR2 TSPYL2 HSD17B10 MIR6894 IQSEC2 GNL3L MAGEH1 APEX2 KDM5C MIR6895 MIR4536-2 WNK3 MIR4536-1 USP51 PAGE2B XAGE3 GPR173 FAM104B SMC1A TRO MTRNR2L10 ALAS2 SNORA109 PHF8 FAM120C MIRLET7F2 HUWE1 ITIH6 TSR2 PAGE3 KANTR PAGE5 PAGE2 FAM156B MIR6857 LOC100421746 SNORA11 MIR98 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | FGD1 FAM156A MAGED2 PFKFB1 RIBC1 FOXR2 TSPYL2 HSD17B10 MIR6894 IQSEC2 GNL3L MAGEH1 APEX2 KDM5C MIR6895 MIR4536-2 WNK3 MIR4536-1 USP51 PAGE2B XAGE3 GPR173 FAM104B SMC1A TRO MTRNR2L10 ALAS2 SNORA109 PHF8 FAM120C MIRLET7F2 HUWE1 ITIH6 TSR2 PAGE3 KANTR PAGE5 PAGE2 FAM156B MIR6857 LOC100421746 SNORA11 MIR98 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | RIBC1 HSD17B10 SMC1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |