Assay Details
Target Gene Details
Entrez Gene ID: | 81889 |
Gene Name: | fumarylacetoacetate hydrolase domain containing 1 |
Gene Aliases: |
C16orf36, YISKL |
Location: |
Chr.16:1827224-1840207 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FAHD1 | NM_001018104.2 | 1 | 233 | NP_001018114.1 |
NM_001142398.1 | 1 | 233 | NP_001135870.1 | |
NM_031208.3 | 1 | 233 | NP_112485.1 | |
AK094199.1 | 1 | 232 | BAC04308.1 | |
AL136720.1 | 1 | 233 | CAB66654.1 | |
BC063017.1 | 1 | 237 | AAH63017.1 | |
CR533499.1 | 1 | 227 | CAG38530.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv517196 | Chr.16:1729694 - 1844960 on Build GRCh38 | Gain+Loss | HAGH EME2 SPSB3 MEIOB MAPK8IP3 NME3 IGFALS FAHD1 MRPS34 NUBP2 MIR3177 |
nsv571175 | Chr.16:1806439 - 1875278 on Build GRCh38 | Loss | HAGH MEIOB FAHD1 |
nsv1040440 | Chr.16:1811739 - 1866102 on Build GRCh38 | Gain | HAGH MEIOB FAHD1 |
esv2422427 | Chr.16:10001 - 2723164 on Build GRCh38 | Duplication | MIR3178 MLST8 GFER PRSS29P LOC101929280 SNORD60 TSR3 MIR6511B1 PGP TBL3 MSLN LOC729652 SPSB3 GNPTG TMEM8A WFIKKN1 HBM PTX4 UBE2I RPS2 MIR4717 RHOT2 ERVK13-1 MIR3677 MIR3176 SYNGR3 NTHL1 TSC2 CCNF CRAMP1 SNORA78 BAIAP3 RAB40C NME4 FAM234A RHBDF1 GNG13 PDIA2 MAPK8IP3 WDR24 SNRNP25 PKD1 LOC100287175 FAHD1 ATP6V0C POLR3K SNORA64 TPSAB1 MIR6768 MRPL28 STUB1 TELO2 LMF1-AS1 LOC105371045 NPW JMJD8 PRR35 PDPK1 C16orf91 MEIOB LOC107984876 CCDC154 MSRB1 HN1L MIR5587 HAGH EME2 ZNF598 FAM173A SOX8 HBZ TPSD1 MIR4516 LOC100134368 RGS11 TBC1D24 RPL3L TRAF7 IGFALS LMF1 MRPS34 MIR3177 DECR2 MIR3180-5 DNASE1L2 LOC105371049 SNHG9 LINC00235 AMDHD2 RPUSD1 RNPS1 RHBDL1 LOC105371047 MIR6859-4 C1QTNF8 NOXO1 HAGHL PRR25 CHTF18 WASIR2 MIR1225 BRICD5 SNHG19 ABCA3 LOC105371038 LOC652276 TPSG1 PRSS27 AXIN1 LOC105371184 SNORA10 LUC7L RAB11FIP3 RAB26 METTL26 E4F1 MIR6767 CAPN15 HBA1 NME3 WDR90 RPL23AP5 MIR940 C16orf59 KCTD5 CEMP1 DDX11L10 FBXL16 PIGQ NPRL3 ARHGDIG LOC106660606 NHLRC4 SSTR5 CLCN7 TPSB2 MPG LINC00254 UNKL NDUFB10 HBA2 LOC107987233 NTN3 MCRIP2 NARFL IFT140 SSTR5-AS1 RNF151 HS3ST6 ABCA17P METRN HBQ1 SLC9A3R2 MIR662 TMEM204 CASKIN1 CCDC78 NUBP2 CACNA1H LOC105371046 FLJ42627 ECI1 |
nsv1051692 | Chr.16:1505070 - 1866102 on Build GRCh38 | Loss | HAGH EME2 TELO2 CRAMP1 LOC105371047 TMEM204 SPSB3 MEIOB MAPK8IP3 NME3 IGFALS FAHD1 MRPS34 NUBP2 MIR3177 LOC105371046 HN1L IFT140 |
nsv1042986 | Chr.16:1784723 - 1866102 on Build GRCh38 | Loss | HAGH MEIOB IGFALS FAHD1 NUBP2 |
nsv518641 | Chr.16:1645775 - 1835631 on Build GRCh38 | Loss | HAGH EME2 CRAMP1 SPSB3 MEIOB MAPK8IP3 NME3 IGFALS FAHD1 MRPS34 NUBP2 MIR3177 HN1L |
nsv457337 | Chr.16:1813519 - 1855005 on Build GRCh38 | Loss | HAGH MEIOB FAHD1 |
nsv952900 | Chr.16:1724500 - 1827999 on Build GRCh38 | Deletion | HAGH EME2 SPSB3 MAPK8IP3 NME3 IGFALS FAHD1 MRPS34 NUBP2 MIR3177 |
nsv571177 | Chr.16:1817039 - 1897015 on Build GRCh38 | Gain | HAGH MEIOB LINC00254 FAHD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |