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 Intron 11 - Exon 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 | 1597 | ||
AK225408.1 | ||||
AK291177.1 | ||||
AK304797.1 | 10 | 1745 | ||
AK304812.1 | 9 | 1836 | ||
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 HBZ SNRNP25 POLR3K RHBDF1 NPRL3 HBA2 HBM LUC7L HBQ1 FAM234A MPG |
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | HAGHL MAPK8IP3 SSTR5-AS1 NARFL MIR5587 LOC105371038 HAGH CCDC78 C16orf91 POLR3K MIR3177 HN1L RPL3L MIR662 IFT140 NME3 HBA2 RPUSD1 TSR3 RHBDL1 RGS11 STUB1 NPRL3 WDR90 MLST8 GFER ARHGDIG DDX11L10 ZNF598 MIR6767 LOC100287175 RNF151 PRSS27 METRN ERVK13-1 LOC106660606 PTX4 SSTR5 LOC105371047 RHBDF1 E4F1 SPSB3 MIR3178 METTL26 MIR940 TPSAB1 C1QTNF8 UBE2I CLCN7 MIR1225 SNRNP25 SNORD60 LINC00235 TPSG1 LOC100134368 MEIOB IGFALS SOX8 CCDC154 TPSD1 NTN3 MIR6768 CRAMP1 SNHG19 PIGQ LMF1-AS1 RNPS1 ABCA3 MIR6859-4 ATP6V0C LOC105371184 MIR4516 TPSB2 LOC101929280 NTHL1 MIR6511B1 TMEM8A TRAF7 SNHG9 MIR3180-5 RAB26 MSLN PDIA2 HBA1 NHLRC4 FAM173A NUBP2 AXIN1 MIR3176 MRPS34 PGP MCRIP2 FLJ42627 BAIAP3 CHTF18 LOC729652 RPL23AP5 CASKIN1 LUC7L C16orf59 TELO2 LOC107987233 RAB40C SNORA78 MRPL28 PKD1 UNKL TSC2 LOC107984876 GNG13 RAB11FIP3 PRR35 TBL3 CACNA1H CAPN15 LOC105371045 DECR2 DNASE1L2 LINC00254 ECI1 TBC1D24 SNORA64 NME4 NDUFB10 RPS2 LOC652276 LMF1 SNORA10 HBM LOC105371049 HS3ST6 ABCA17P FAHD1 PDPK1 HBZ CEMP1 AMDHD2 SLC9A3R2 MIR4717 JMJD8 KCTD5 FBXL16 PRR25 NPW NOXO1 MSRB1 PRSS29P CCNF WDR24 WFIKKN1 WASIR2 FAM234A MPG GNPTG MIR3677 TMEM204 EME2 LOC105371046 BRICD5 SYNGR3 RHOT2 HBQ1 |
dgv2690n100 | Chr.16:10765 - 207261 on Build GRCh38 | Gain | RHBDF1 NPRL3 DDX11L10 WASIR2 HBM LUC7L MPG HBA1 HBZ SNRNP25 POLR3K MIR6859-4 HBA2 HBQ1 |
esv988339 | Chr.16:56481 - 68287 on Build GRCh38 | Deletion | SNRNP25 RHBDF1 |
esv2760065 | Chr.16:31052 - 143601 on Build GRCh38 | Gain | HBZ SNRNP25 POLR3K RHBDF1 NPRL3 MPG |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |