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 3 - Intron 3 |
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 | |||
AK290346.1 | ||||
AK292871.1 | ||||
AK304179.1 | ||||
BC036767.1 | 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 | FAM156B WNK3 SMC1A TRO GPR173 HSD17B10 TSR2 PAGE2 MIR98 MAGEH1 PFKFB1 PAGE2B HUWE1 FAM120C APEX2 PHF8 KDM5C MIR4536-2 IQSEC2 MIR6857 MIRLET7F2 LOC100421746 USP51 SNORA11 FGD1 MIR4536-1 ITIH6 TSPYL2 MAGED2 SNORA109 FAM156A FAM104B XAGE3 FOXR2 PAGE5 ALAS2 RIBC1 MIR6895 PAGE3 KANTR GNL3L MIR6894 MTRNR2L10 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | FAM156B WNK3 SMC1A TRO GPR173 HSD17B10 TSR2 PAGE2 MIR98 MAGEH1 PFKFB1 PAGE2B HUWE1 FAM120C APEX2 PHF8 KDM5C MIR4536-2 IQSEC2 MIR6857 MIRLET7F2 LOC100421746 USP51 SNORA11 FGD1 MIR4536-1 ITIH6 TSPYL2 MAGED2 SNORA109 FAM156A FAM104B XAGE3 FOXR2 PAGE5 ALAS2 RIBC1 MIR6895 PAGE3 KANTR GNL3L MIR6894 MTRNR2L10 |
nsv6908 | Chr.X:53412544 - 53446505 on Build GRCh38 | Insertion | SMC1A HSD17B10 RIBC1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |