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: | Within Intron 11 |
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 | |||
XM_017023558.1 | XP_016879047.1 | |||
AK026010.1 | BAB15318.1 | |||
AK056708.1 | 11 | 2162 | ||
AK225408.1 | ||||
AK291177.1 | ||||
BC014425.1 | AAH14425.1 | |||
M99624.1 | AAA02490.1 |
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 | HBA1 HBQ1 LUC7L SNRNP25 NPRL3 HBA2 FAM234A HBZ RHBDF1 POLR3K MPG HBM |
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | LOC729652 NOXO1 TELO2 LMF1 PRSS27 NUBP2 MIR6511B1 PRSS29P WFIKKN1 MIR3180-5 DECR2 CCNF MCRIP2 JMJD8 RPUSD1 SNRNP25 TBL3 MIR6768 EME2 HBZ CHTF18 POLR3K AMDHD2 AXIN1 ABCA17P TSR3 MLST8 SYNGR3 MIR1225 ECI1 HS3ST6 C1QTNF8 MIR940 RNPS1 BRICD5 MIR3178 TPSD1 CCDC78 C16orf59 SSTR5-AS1 PDIA2 NDUFB10 MIR3677 NARFL FBXL16 SNHG9 TSC2 LOC100134368 LUC7L MAPK8IP3 LOC107984876 MIR3176 MIR4717 NPW GNPTG NTHL1 WASIR2 RHBDF1 LOC105371049 SNORA10 ZNF598 WDR90 CEMP1 NTN3 NHLRC4 SOX8 CAPN15 LINC00235 FAM173A TMEM204 TMEM8A RPS2 RAB26 ARHGDIG CLCN7 METRN PRR35 RPL3L LOC105371047 RNF151 SNORA64 RGS11 IFT140 RAB40C HN1L MSRB1 SNORD60 E4F1 WDR24 MSLN GNG13 HBQ1 HAGHL ATP6V0C LINC00254 PTX4 DNASE1L2 CCDC154 LOC100287175 FLJ42627 TPSAB1 HAGH UNKL CACNA1H RAB11FIP3 NME3 MIR6767 PKD1 RHOT2 TPSB2 MIR5587 MPG UBE2I MIR662 PIGQ NME4 MRPS34 LOC105371046 PRR25 RHBDL1 HBM HBA1 LOC105371045 ERVK13-1 ABCA3 FAM234A GFER SPSB3 IGFALS KCTD5 TRAF7 TPSG1 MIR4516 HBA2 RPL23AP5 FAHD1 MEIOB SSTR5 LOC105371038 SNORA78 MIR6859-4 LOC105371184 LOC107987233 LOC101929280 TBC1D24 NPRL3 DDX11L10 LOC652276 SLC9A3R2 SNHG19 LOC106660606 PDPK1 C16orf91 BAIAP3 MRPL28 LMF1-AS1 CASKIN1 CRAMP1 METTL26 STUB1 MIR3177 PGP |
nsv1044732 | Chr.16:35815 - 60707 on Build GRCh38 | Loss | SNRNP25 RHBDF1 POLR3K |
dgv2690n100 | Chr.16:10765 - 207261 on Build GRCh38 | Gain | HBQ1 LUC7L NPRL3 DDX11L10 HBA2 WASIR2 RHBDF1 HBM HBA1 SNRNP25 MIR6859-4 HBZ POLR3K MPG |
esv988339 | Chr.16:56481 - 68287 on Build GRCh38 | Deletion | SNRNP25 RHBDF1 |
esv2760065 | Chr.16:31052 - 143601 on Build GRCh38 | Gain | SNRNP25 NPRL3 HBZ RHBDF1 POLR3K MPG |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |