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 17 - Exon 17 |
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 | 13 | 3093 | ||
AK225408.1 | ||||
AK291177.1 | ||||
BC014425.1 | AAH14425.1 | |||
BM830007.1 | ||||
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 FAM234A HBZ HBQ1 HBM HBA2 LUC7L NPRL3 SNRNP25 RHBDF1 MPG POLR3K |
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | SNHG9 FAM234A UNKL TPSB2 AXIN1 UBE2I HBZ MIR3177 HBM LOC100287175 ERVK13-1 SNHG19 LOC107984876 FAM173A LOC105371184 MIR4516 WFIKKN1 NHLRC4 LOC652276 FLJ42627 C16orf91 TRAF7 NPW SOX8 WASIR2 MIR6768 IFT140 BAIAP3 ABCA17P TELO2 RPUSD1 E4F1 CAPN15 CACNA1H GNG13 RHOT2 RHBDL1 ATP6V0C LMF1 TPSD1 RNF151 LOC729652 NOXO1 LOC105371038 NUBP2 SSTR5-AS1 DNASE1L2 LMF1-AS1 RPL3L TMEM204 LOC105371047 HN1L LOC106660606 HBA1 LOC100134368 LINC00235 LOC105371046 RPL23AP5 NTHL1 MPG METRN MIR3176 FBXL16 JMJD8 LOC105371045 HAGHL TPSG1 TMEM8A METTL26 MIR3677 SYNGR3 RAB40C CASKIN1 CCDC154 PDIA2 DECR2 GFER PGP PRSS27 HS3ST6 SSTR5 PRR25 PIGQ POLR3K MSRB1 AMDHD2 MIR3178 TSC2 TBL3 NDUFB10 PKD1 SNORA64 SNORA10 RHBDF1 WDR24 NME4 CLCN7 SNORA78 TPSAB1 LUC7L NPRL3 MIR6511B1 ZNF598 KCTD5 CEMP1 MIR5587 RAB11FIP3 RAB26 TBC1D24 MIR6859-4 MIR3180-5 GNPTG LINC00254 RNPS1 RPS2 ABCA3 MIR4717 NME3 CHTF18 LOC107987233 CCNF ARHGDIG MRPS34 SPSB3 MIR940 EME2 MRPL28 C16orf59 CCDC78 MCRIP2 LOC105371049 PTX4 MIR662 BRICD5 MSLN MEIOB IGFALS HAGH MIR6767 SNRNP25 STUB1 NARFL CRAMP1 FAHD1 MLST8 MAPK8IP3 TSR3 ECI1 PDPK1 WDR90 PRSS29P HBQ1 C1QTNF8 SNORD60 HBA2 LOC101929280 MIR1225 PRR35 SLC9A3R2 DDX11L10 NTN3 RGS11 |
nsv1044732 | Chr.16:35815 - 60707 on Build GRCh38 | Loss | SNRNP25 RHBDF1 POLR3K |
dgv2690n100 | Chr.16:10765 - 207261 on Build GRCh38 | Gain | HBA1 HBZ HBM LUC7L NPRL3 SNRNP25 MPG POLR3K HBQ1 HBA2 WASIR2 MIR6859-4 DDX11L10 RHBDF1 |
esv988339 | Chr.16:56481 - 68287 on Build GRCh38 | Deletion | SNRNP25 RHBDF1 |
esv2760065 | Chr.16:31052 - 143601 on Build GRCh38 | Gain | HBZ NPRL3 SNRNP25 RHBDF1 MPG POLR3K |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |