Assay Details
Target Gene Details
Entrez Gene ID: | 64285 |
Gene Name: | rhomboid 5 homolog 1 |
Gene Aliases: |
C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1 |
Location: |
Chr.16:58059-76355 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RHBDF1 | NM_022450.3 | NP_071895.3 | ||
XM_005255494.1 | XP_005255551.1 | |||
XM_005255498.2 | XP_005255555.1 | |||
XM_006720921.1 | XP_006720984.1 | |||
XM_017023556.1 | XP_016879045.1 | |||
XM_017023557.1 | XP_016879046.1 | |||
AK026010.1 | BAB15318.1 | |||
AK056708.1 | ||||
BC014425.1 | AAH14425.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv518291 | Chr.16:47354 - 254515 on Build GRCh38 | Loss | HBA2 LUC7L POLR3K NPRL3 HBQ1 MPG FAM234A RHBDF1 SNRNP25 HBZ HBM HBA1 |
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | WASIR2 ZNF598 MIR3180-5 CASKIN1 ERVK13-1 NDUFB10 SNORA10 TBC1D24 TELO2 UNKL LOC105371049 ECI1 CACNA1H MCRIP2 RHOT2 MIR5587 HAGHL TPSG1 MIR3178 CEMP1 POLR3K RPL23AP5 SNHG9 SOX8 SNORA64 LOC105371047 MRPS34 SNRNP25 RPS2 MIR3177 PDPK1 RPL3L MIR1225 NPW PIGQ LOC107984876 AMDHD2 HBZ TMEM8A WDR90 GNG13 SYNGR3 MIR6768 DNASE1L2 HS3ST6 HBM SLC9A3R2 LOC105371046 MPG BAIAP3 HAGH HBA1 SSTR5 MEIOB MIR6859-4 SSTR5-AS1 TMEM204 IFT140 AXIN1 UBE2I PRR35 ABCA3 MIR940 LINC00235 RNF151 C16orf91 SNHG19 PKD1 MIR4717 NTN3 PRSS29P RHBDF1 RAB26 FLJ42627 FBXL16 LOC105371038 NOXO1 PDIA2 MRPL28 LOC100134368 FAM173A NME4 TBL3 PTX4 LOC106660606 CCDC78 C1QTNF8 MLST8 KCTD5 TSR3 E4F1 HBA2 METRN LOC100287175 TPSAB1 TRAF7 PRR25 LMF1-AS1 NME3 SNORD60 NTHL1 SNORA78 WDR24 DECR2 IGFALS RHBDL1 LOC101929280 DDX11L10 CRAMP1 RPUSD1 NPRL3 RAB11FIP3 METTL26 CCNF TPSB2 GNPTG MIR3677 TPSD1 LOC652276 TSC2 SPSB3 LINC00254 FAM234A RNPS1 MSLN NARFL EME2 C16orf59 MIR6767 RAB40C LOC107987233 CHTF18 LOC105371184 PRSS27 MSRB1 STUB1 ARHGDIG MIR4516 CCDC154 HN1L CLCN7 WFIKKN1 CAPN15 MIR3176 FAHD1 LUC7L NUBP2 LMF1 LOC105371045 JMJD8 MIR6511B1 MIR662 RGS11 GFER BRICD5 HBQ1 NHLRC4 LOC729652 ATP6V0C ABCA17P PGP MAPK8IP3 |
nsv1044732 | Chr.16:35815 - 60707 on Build GRCh38 | Loss | POLR3K RHBDF1 SNRNP25 |
dgv2690n100 | Chr.16:10765 - 207261 on Build GRCh38 | Gain | LUC7L MIR6859-4 POLR3K WASIR2 SNRNP25 HBM HBA2 DDX11L10 NPRL3 HBQ1 MPG RHBDF1 HBZ HBA1 |
esv988339 | Chr.16:56481 - 68287 on Build GRCh38 | Deletion | RHBDF1 SNRNP25 |
esv2760065 | Chr.16:31052 - 143601 on Build GRCh38 | Gain | POLR3K NPRL3 MPG RHBDF1 SNRNP25 HBZ |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |