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Gene Symbol
RPUSD1
Assay Reference Genome
Location

Chr.16:785123 on build GRCh38
Cytoband
16p13.3
Assay ID Hs01735137_cn
Size
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Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 113000

Gene Name:

 RNA pseudouridylate synthase domain containing 1

Gene Aliases:

 C16orf40, RLUCL

Location:

 Chr.16:784974-788383 on Build GRCh38

Assay Gene Location:

 Within Exon 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RPUSD1 NM_001324086.1 6 1910 NP_001311015.1
NM_001324410.1 6 1811 NP_001311339.1
NM_001324411.1 5 1798 NP_001311340.1
NM_001324412.1 5 1712 NP_001311341.1
NM_001324413.1 6 1802 NP_001311342.1
NM_001324414.1 6 1858 NP_001311343.1
NM_001324415.1 6 1911 NP_001311344.1
NM_058192.2 6 1901 NP_478072.1
BC011783.2 5 1766 AAH11783.1
BC012951.2 2 1401 AAH12951.2
CB529100.1 1 167

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv4828n54 Chr.16:760143 - 828324 on Build GRCh38 Gain RPUSD1 MIR662 PRR25 CHTF18 GNG13 MSLN
esv3637582 Chr.16:751057 - 851536 on Build GRCh38 Gain RPUSD1 MIR662 PRR25 CHTF18 GNG13 MSLN
nsv571040 Chr.16:774098 - 797597 on Build GRCh38 Loss RPUSD1 CHTF18
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication LOC100134368 METTL26 SNORA64 MIR4717 MSLN GFER SYNGR3 LOC105371049 C1QTNF8 LOC105371184 ABCA17P PRSS27 CASKIN1 HAGH PTX4 UNKL MLST8 NTN3 WDR90 ERVK13-1 PRR25 HBQ1 WASIR2 MAPK8IP3 MIR4516 TRAF7 TPSG1 LMF1-AS1 TSC2 SNHG19 LOC105371046 RNF151 SNHG9 WDR24 FAM173A RAB11FIP3 LOC107984876 GNG13 PRSS29P STUB1 LOC105371038 DNASE1L2 CCDC154 HS3ST6 TELO2 BAIAP3 TPSB2 ATP6V0C SSTR5 TPSD1 FBXL16 HBA2 NTHL1 PKD1 PIGQ RAB40C NHLRC4 MIR3177 ABCA3 MCRIP2 RHOT2 JMJD8 SNORA10 MSRB1 GNPTG PDIA2 TMEM204 KCTD5 SOX8 MIR6511B1 RPL3L HBA1 DECR2 LMF1 LOC729652 MIR662 PDPK1 CCNF SPSB3 RHBDF1 TBC1D24 MEIOB HBM NPW HN1L RAB26 CACNA1H LOC652276 SLC9A3R2 MIR3677 NME3 POLR3K SNRNP25 LOC106660606 LOC100287175 IGFALS AXIN1 PRR35 FAHD1 MIR6767 PGP LUC7L MRPL28 NUBP2 ECI1 UBE2I C16orf91 MIR3176 LOC105371045 LINC00254 NOXO1 MIR6768 MIR3178 NPRL3 MIR940 RHBDL1 MIR5587 DDX11L10 E4F1 NARFL AMDHD2 MRPS34 RPUSD1 NDUFB10 MIR1225 MIR6859-4 LOC101929280 WFIKKN1 LOC107987233 CCDC78 MIR3180-5 CAPN15 TSR3 SSTR5-AS1 METRN ZNF598 SNORD60 C16orf59 CEMP1 FLJ42627 SNORA78 FAM234A LINC00235 CHTF18 TMEM8A NME4 LOC105371047 CLCN7 TPSAB1 RPL23AP5 MPG CRAMP1 RNPS1 RGS11 RPS2 IFT140 BRICD5 TBL3 ARHGDIG HBZ EME2 HAGHL
nsv9321 Chr.16:638149 - 804328 on Build GRCh38 Gain+Loss RHOT2 RHBDL1 MIR662 JMJD8 WDR90 LOC105371038 CHTF18 NARFL MSLN FBXL16 RPUSD1 WDR24 FAM173A LOC100287175 LOC105371184 GNG13 CCDC78 STUB1 MCRIP2 HAGHL METRN
nsv471063 Chr.16:520623 - 852322 on Build GRCh38 Loss RHBDL1 MIR5587 MIR662 METTL26 LOC105371038 NARFL MSLN FBXL16 RPUSD1 PIGQ RAB40C LOC101929280 LOC100287175 NHLRC4 LOC105371184 WFIKKN1 LOC107987233 CCDC78 PRR35 CAPN15 MCRIP2 METRN RHOT2 JMJD8 WDR90 PRR25 LINC00235 CHTF18 MIR3176 WDR24 FAM173A RAB11FIP3 GNG13 STUB1 HAGHL
nsv526903 Chr.16:451362 - 810673 on Build GRCh38 Loss RHBDL1 MIR5587 MIR662 METTL26 LOC105371038 NARFL MSLN FBXL16 RPUSD1 PIGQ RAB40C LOC101929280 LOC100287175 NHLRC4 LOC105371184 WFIKKN1 LOC107987233 CCDC78 PRR35 CAPN15 MCRIP2 METRN RHOT2 JMJD8 WDR90 PRR25 LINC00235 CHTF18 MIR3176 WDR24 FAM173A RAB11FIP3 GNG13 STUB1 HAGHL
nsv952898 Chr.16:495001 - 1132900 on Build GRCh38 Deletion LMF1 RHBDL1 MIR5587 MIR662 METTL26 LOC105371038 NARFL MSLN SSTR5 FBXL16 RPUSD1 C1QTNF8 PIGQ RAB40C LOC101929280 LOC100287175 NHLRC4 LOC105371184 WFIKKN1 LOC107987233 CCDC78 PRR35 CAPN15 MCRIP2 SSTR5-AS1 METRN RHOT2 JMJD8 WDR90 PRR25 LINC00235 CHTF18 MIR3176 SOX8 LMF1-AS1 WDR24 FAM173A RAB11FIP3 LOC107984876 GNG13 STUB1 HAGHL
dgv4827n54 Chr.16:760039 - 810673 on Build GRCh38 Loss RPUSD1 MIR662 PRR25 CHTF18 GNG13 MSLN
nsv1160326 Chr.16:580902 - 804689 on Build GRCh38 Duplication RHBDL1 MIR662 METTL26 LOC105371038 NARFL MSLN FBXL16 RPUSD1 PIGQ RAB40C LOC101929280 LOC100287175 LOC105371184 WFIKKN1 CCDC78 MCRIP2 METRN RHOT2 JMJD8 WDR90 CHTF18 WDR24 FAM173A GNG13 STUB1 HAGHL
nsv1160325 Chr.16:506925 - 836376 on Build GRCh38 Duplication RHBDL1 MIR5587 MIR662 METTL26 LOC105371038 NARFL MSLN FBXL16 RPUSD1 PIGQ RAB40C LOC101929280 LOC100287175 NHLRC4 LOC105371184 WFIKKN1 LOC107987233 CCDC78 PRR35 CAPN15 MCRIP2 METRN RHOT2 JMJD8 WDR90 PRR25 LINC00235 CHTF18 MIR3176 WDR24 FAM173A RAB11FIP3 GNG13 STUB1 HAGHL

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More Information


Additional Information:

For this assay, SNP(s) [rs116189618,rs73491293] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

RNA processing factor

Gene Ontology Categories:

Function(s) Process(es)


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