1. Analytes
  2. OTUD4

OTUD4

Analyte Export to PDF
Name:
OTU deubiquitinase 4
Symbol:
OTUD4
XREF(s):
OMIM
HGNC
Created:
04 Dec 2019 - 10:06
Changed:
04 Dec 2019 - 10:06
  • Ataxia (348 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 100.00 0 No comment
    ABCB7 99.99 0 No comment
    ABCD1 97.56 0 No comment
    ABHD12 88.30 0 No comment
    ABHD5 99.85 0 No comment
    ACADVL 98.04 0 No comment
    ACO2 100.00 0 No comment
    COQ8A 99.92 0 No comment
    AFG3L2 94.80 0 No comment
    AHI1 100.00 0 No comment
    ALAS2 100.00 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH5A1 84.13 0 No comment
    ALG6 100.00 0 No comment
    ALS2 100.00 0 No comment
    AMACR 96.78 0 No comment
    AMPD2 99.90 0 No comment
    AMT 100.00 0 No comment
    ANO10 100.00 0 No comment
    AP1S2 100.00 0 No comment
    APTX 99.96 0 No comment
    ARL13B 99.98 0 No comment
    ARL6 100.00 0 No comment
    ARSA 100.00 0 No comment
    ARX 100.00 0 No comment
    ASPA 100.00 0 No comment
    ATCAY 100.00 0 No comment
    ATG5 100.00 0 No comment
    ATL1 99.89 0 No comment
    ATM 100.00 0 No comment
    ATP1A3 100.00 0 No comment
    ATP2B2 100.00 0 No comment
    ATP2B3 99.89 0 No comment
    ATP7B 100.00 0 No comment
    ATP8A2 99.91 0 No comment
    ATXN1 100.00 0 No comment
    ATXN10 98.19 0 No comment
    ATXN2 93.25 0 No comment
    ATXN3 99.47 0 No comment
    ATXN7 98.67 0 No comment
    B9D1 99.89 0 No comment
    BBS1 100.00 0 No comment
    BBS10 100.00 0 No comment
    BBS12 100.00 0 No comment
    BBS2 100.00 0 No comment
    BBS4 99.97 0 No comment
    BBS5 100.00 0 No comment
    BBS7 99.99 0 No comment
    BBS9 99.93 0 No comment
    BEAN1 100.00 0 No comment
    BIVM 100.00 0 No comment
    BSCL2 100.00 0 No comment
    BTD 100.00 0 No comment
    TWNK 100.00 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    CPLANE1 100.00 0 No comment
    CA8 100.00 0 No comment
    CACNA1A 99.53 0 No comment
    CACNA1G 99.97 0 No comment
    CACNB4 99.95 0 No comment
    CAMTA1 99.98 0 No comment
    CAPN1 99.97 0 No comment
    CASK 99.99 0 No comment
    CC2D2A 100.00 0 No comment
    CCDC88C 99.64 0 No comment
    CEP290 100.00 0 No comment
    CEP41 100.00 0 No comment
    CHMP1A 100.00 0 No comment
    CLCN2 100.00 0 No comment
    CLN5 98.80 0 No comment
    CLN6 90.40 0 No comment
    CLPP 97.95 0 No comment
    COA7 100.00 0 No comment
    COASY 100.00 0 No comment
    COG5 99.95 0 No comment
    COQ2 99.66 0 No comment
    COQ6 100.00 0 No comment
    COQ9 100.00 0 No comment
    COX20 95.39 0 No comment
    CP 100.00 0 No comment
    CRAT 99.29 0 No comment
    CSTB 98.75 0 No comment
    CWF19L1 100.00 0 No comment
    CYP27A1 99.38 0 No comment
    CYP2U1 93.20 0 No comment
    CYP7B1 95.41 0 No comment
    DARS1 100.00 0 No comment
    DARS2 100.00 0 No comment
    DDB2 100.00 0 No comment
    DDHD2 100.00 0 No comment
    DLAT 100.00 0 No comment
    DMXL2 100.00 0 No comment
    DNAJC19 99.65 0 No comment
    DNAJC3 99.99 0 No comment
    DNAJC5 100.00 0 No comment
    DNMT1 99.54 0 No comment
    EBF3 99.94 0 No comment
    EEF2 100.00 0 No comment
    EIF2B1 100.00 0 No comment
    EIF2B2 99.61 0 No comment
    EIF2B3 98.87 0 No comment
    EIF2B4 100.00 0 No comment
    EIF2B5 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    ELOVL5 100.00 0 No comment
    EPM2A 97.21 0 No comment
    ERCC2 99.22 0 No comment
    ERCC3 100.00 0 No comment
    ERCC4 99.99 0 No comment
    ERCC5 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    FA2H 95.71 0 No comment
    FARS2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FDXR 100.00 0 No comment
    FGF14 100.00 0 No comment
    FLVCR1 100.00 0 No comment
    FMR1 99.99 0 No comment
    FOLR1 100.00 0 No comment
    FRMD7 99.98 0 No comment
    FXN 100.00 0 No comment
    GALC 98.98 0 No comment
    GBA1 100.00 0 No comment
    GBA2 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCDH 100.00 0 No comment
    GCLC 99.98 0 No comment
    GCSH 73.97 0 No comment
    GFAP 100.00 0 No comment
    GJC2 96.72 0 No comment
    GLB1 100.00 0 No comment
    GLDC 97.39 0 No comment
    GLRX5 100.00 0 No comment
    GM2A 100.00 0 No comment
    GOSR2 100.00 0 No comment
    GPAA1 95.08 0 No comment
    GPR143 89.09 0 No comment
    ADGRG1 99.99 0 No comment
    GRID2 100.00 0 No comment
    GRM1 99.99 0 No comment
    GSS 100.00 0 No comment
    HARS2 100.00 0 No comment
    HEPACAM 99.85 0 No comment
    HERC1 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.19 0 No comment
    HIBCH 100.00 0 No comment
    HPRT1 92.71 0 No comment
    HTRA1 75.65 0 No comment
    IFRD1 98.86 0 No comment
    IGDCC3 95.07 0 No comment
    INPP5E 99.14 0 No comment
    IRF2BPL 97.56 0 No comment
    ITM2B 100.00 0 No comment
    ITPR1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNC3 76.20 0 No comment
    KCND3 100.00 0 No comment
    KCNJ10 100.00 0 No comment
    KCNJ6 100.00 0 No comment
    KCNMA1 99.93 0 No comment
    WASHC5 100.00 0 No comment
    RUBCN 96.60 0 No comment
    NEXMIF 100.00 0 No comment
    KIF1A 98.74 0 No comment
    KIF1C 100.00 0 No comment
    KIF5A 100.00 0 No comment
    KIF5C 100.00 0 No comment
    KIF7 99.64 0 No comment
    L2HGDH 99.75 0 No comment
    LAMA1 99.79 0 No comment
    LAMB1 100.00 0 No comment
    LARS2 100.00 0 No comment
    LMNB1 97.00 0 No comment
    LRPPRC 98.80 0 No comment
    LYST 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MKKS 100.00 0 No comment
    MKS1 100.00 0 No comment
    MLC1 98.57 0 No comment
    MMACHC 100.00 0 No comment
    MME 100.00 0 No comment
    MRE11 99.05 0 No comment
    MSTO1 99.96 0 No comment
    MTFMT 97.83 0 No comment
    MTPAP 99.98 0 No comment
    MTRR 100.00 0 No comment
    MTTP 100.00 0 No comment
    MVK 100.00 0 No comment
    NANS 100.00 0 No comment
    NDUFAF6 95.61 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS4 99.96 0 No comment
    NDUFS7 93.34 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 99.62 0 No comment
    NEFL 99.62 0 No comment
    NEU1 100.00 0 No comment
    NHLRC1 96.01 0 No comment
    NKX6-2 94.10 0 No comment
    NOL3 100.00 0 No comment
    NOP56 99.99 0 No comment
    NOTCH3 93.46 0 No comment
    NPC1 97.50 0 No comment
    NPC2 100.00 0 No comment
    NPHP1 100.00 0 No comment
    NUBPL 99.92 0 No comment
    OCLN 100.00 0 No comment
    OFD1 97.13 0 No comment
    MED12 99.98 0 No comment
    OPA3 100.00 0 No comment
    OPHN1 99.94 0 No comment
    OTUD4 100.00 0 No comment
    PAX6 100.00 0 No comment
    PDGFRB 99.98 0 No comment
    PDHX 100.00 0 No comment
    PDSS1 85.11 0 No comment
    PDSS2 100.00 0 No comment
    PDYN 100.00 0 No comment
    PEX10 87.10 0 No comment
    PEX16 99.97 0 No comment
    PEX2 100.00 0 No comment
    PEX7 95.60 0 No comment
    PHYH 99.81 0 No comment
    PIK3R5 100.00 0 No comment
    PLA2G6 100.00 0 No comment
    PLEKHG4 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMM2 100.00 0 No comment
    PMPCA 100.00 0 No comment
    PNKD 99.93 0 No comment
    PNKP 99.84 0 No comment
    PNPLA6 99.95 0 No comment
    POLG 100.00 0 No comment
    POLH 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    PPP2R2B 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRKCG 100.00 0 No comment
    PRNP 99.92 0 No comment
    PRPS1 99.91 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 99.45 0 No comment
    PUM1 100.00 0 No comment
    RAB18 99.99 0 No comment
    RAB3A 100.00 0 No comment
    RAB3GAP1 100.00 0 No comment
    RARS2 100.00 0 No comment
    RELN 100.00 0 No comment
    RNASEH2A 100.00 0 No comment
    RNASEH2C 100.00 0 No comment
    RNF170 100.00 0 No comment
    RNF216 100.00 0 No comment
    RPGRIP1L 96.40 0 No comment
    RRM2B 100.00 0 No comment
    SACS 99.95 0 No comment
    SAMD9L 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SAR1B 100.00 0 No comment
    SCN8A 100.00 0 No comment
    SEC16A 99.98 0 No comment
    SEPSECS 99.57 0 No comment
    SERAC1 100.00 0 No comment
    SETX 100.00 0 No comment
    SIL1 99.95 0 No comment
    SKOR1 98.57 0 No comment
    SLC16A2 99.97 0 No comment
    SLC17A5 100.00 0 No comment
    SLC19A3 99.90 0 No comment
    SLC1A3 100.00 0 No comment
    SLC20A2 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    SLC25A46 100.00 0 No comment
    SLC2A1 100.00 0 No comment
    SLC39A8 98.92 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 99.86 0 No comment
    SLC9A1 100.00 0 No comment
    SLC9A6 99.66 0 No comment
    SMPD1 100.00 0 No comment
    SNX14 99.98 0 No comment
    SPAST 99.83 0 No comment
    SPG11 100.00 0 No comment
    SPG7 95.78 0 No comment
    SPR 99.98 0 No comment
    SPTBN2 99.93 0 No comment
    SRD5A3 98.61 0 No comment
    STUB1 99.69 0 No comment
    SYNE1 100.00 0 No comment
    SYT14 92.28 0 No comment
    TANGO2 99.94 0 No comment
    TBC1D20 95.06 0 No comment
    TBCC 100.00 0 No comment
    TBP 100.00 0 No comment
    TCTN1 100.00 0 No comment
    TCTN2 100.00 0 No comment
    TCTN3 100.00 0 No comment
    TDP1 100.00 0 No comment
    TDP2 100.00 0 No comment
    TGM6 100.00 0 No comment
    TK2 100.00 0 No comment
    TMEM138 100.00 0 No comment
    TMEM216 99.87 0 No comment
    TMEM231 100.00 0 No comment
    TMEM237 99.85 0 No comment
    TMEM240 96.75 0 No comment
    TMEM67 99.95 0 No comment
    ACD 99.99 0 No comment
    TRIM32 100.00 0 No comment
    TRPC3 99.48 0 No comment
    TSEN2 100.00 0 No comment
    TSEN34 100.00 0 No comment
    TSEN54 91.60 0 No comment
    TSFM 100.00 0 No comment
    TTBK2 100.00 0 No comment
    TTC19 100.00 0 No comment
    TTC8 99.73 0 No comment
    TTPA 96.80 0 No comment
    TUBB4A 100.00 0 No comment
    TUBG1 100.00 0 No comment
    TYMP 100.00 0 No comment
    UBA5 100.00 0 No comment
    VAMP1 100.00 0 No comment
    VLDLR 96.00 0 No comment
    VPS13A 100.00 0 No comment
    VPS13B 100.00 0 No comment
    VPS13D 100.00 0 No comment
    VRK1 100.00 0 No comment
    VWA3B 100.00 0 No comment
    WDPCP 99.11 0 No comment
    WDR73 100.00 0 No comment
    WDR81 99.63 0 No comment
    WFS1 100.00 0 No comment
    WWOX 100.00 0 No comment
    XPA 98.10 0 No comment
    XPC 100.00 0 No comment
    XPR1 99.91 0 No comment
    XRCC1 99.95 0 No comment
    ZC4H2 100.00 0 No comment
    ZFYVE26 100.00 0 No comment
    ZNF423 100.00 0 No comment
    ZNF592 100.00 0 No comment
  • Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 99.98 1
    AKR1C2 91.19 1
    AKR1C4 100.00 1
    AMH 100.00 1
    AMHR2 99.96 1
    ANOS1 99.96 1
    AR 99.76 1
    ARX 95.36 1
    ATRX 99.44 1
    AXL 99.97 1
    BMP15 99.98 1
    BMP4 100.00 1
    BNC1 100.00 1
    CBX2 100.00 1
    CHD7 99.99 1
    CLPP 99.99 1
    CREBBP 99.97 1
    CYB5A 99.98 1
    CYP11A1 99.99 1
    CYP11B1 100.00 1
    CYP17A1 100.00 1
    CYP19A1 99.99 1
    CYP21A2 99.85 1
    DHCR7 99.97 1
    DHH 100.00 1
    DHX37 99.98 1
    DMRT1 99.99 1
    DMXL2 99.86 1
    DUSP6 99.99 1
    EIF4ENIF1 100.00 1
    EP300 99.97 1
    ESR1 100.00 1
    ESR2 99.96 1
    FANCM 99.83 1
    FEZF1 100.00 1
    FGF17 99.81 1
    FGF8 100.00 1
    FGF9 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FIGLA 99.95 1
    FLRT3 100.00 1
    FOXL2 99.97 1
    FSHB 100.00 1
    FSHR 99.99 1
    GATA4 99.99 1
    GDF9 99.98 1
    GNRH1 99.96 1
    GNRHR 99.94 1
    HDAC8 99.74 1
    HESX1 99.77 1
    HFM1 89.74 1
    HHAT 99.93 1
    HOXA13 99.94 1
    HS6ST1 99.99 1
    HSD17B3 99.77 1
    HSD17B4 99.71 1
    HSD3B2 100.00 1
    IL17RD 99.94 1
    INSL3 98.02 1
    KHDRBS1 99.35 1
    KISS1 99.97 1
    KISS1R 100.00 1
    LARS2 99.96 1
    LEP 100.00 1
    LEPR 92.52 1
    LHB 99.93 1
    LHCGR 99.94 1
    LHX1 99.96 1
    LHX3 99.99 1
    LHX4 99.99 1
    MAMLD1 99.84 1
    MAP3K1 99.93 1
    MCM8 98.78 1
    MCM9 99.76 1
    MEIOB 99.98 1
    MID1 99.90 1
    MRPS22 99.87 1
    MSH4 89.29 1
    MSH5 100.00 1
    NANOS3 100.00 1
    NBN 99.93 1
    NOBOX 99.95 1
    NR0B1 99.98 1
    NR2F2 100.00 1
    NR5A1 99.92 1
    NSMF 100.00 1
    NUP107 97.46 1
    OTUD4 99.83 1
    PATL2 99.99 1
    PCSK1 99.99 1
    PNPLA6 99.99 1
    POF1B 99.34 1
    POLR2C 99.99 1
    POLR3A 99.97 1
    PORCN 99.98 1
    PROK2 98.65 1
    PROKR2 100.00 1
    PROP1 99.88 1
    PSMC3IP 99.82 1
    RNF216 99.99 1
    RSPO1 99.99 1
    RXFP2 99.99 1
    SEMA3A 99.42 1
    SEMA7A 99.90 1
    SOHLH1 100.00 1
    SOHLH2 100.00 1
    SOX10 100.00 1
    SOX2 100.00 1
    SOX3 100.00 1
    SOX8 99.99 1
    SOX9 100.00 1
    SPIDR 99.96 1
    SPRY4 100.00 1
    SRD5A2 100.00 1
    SRY 51.98 1
    STAG3 98.99 1
    GUCY2C 99.97 1
    SYCE1 99.99 1
    TAC3 99.94 1
    TACR3 99.99 1
    TP63 99.97 1
    TSPYL1 100.00 1
    TWNK 100.00 1
    WDR11 99.91 1
    WNT4 99.94 1
    WT1 99.99 1
    WWOX 100.00 1
    ZFPM2 100.00 1
    ZNRF3 99.94 1
  • Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LEPR 98.65 0 NM_002303
    KISS1 99.66 0 NM_002256
    RD3 99.63 0 NM_183059
    HS6ST1 92.39 0 NM_004807
    CXCR4 99.63 0 NM_003467
    CCDC141 97.45 0 NM_173648
    NRP2 99.58 0 NM_201266
    IL17RD 94.68 0 NM_017563
    HESX1 98.36 0 NM_003865
    PROK2 90.75 0 NM_001126128
    GAP43 97.81 0 NM_001130064
    PLXNA1 99.67 0 NM_032242
    SOX2 95.94 0 NM_003106
    KLB 99.62 0 NM_175737
    GNRHR 99.45 0 NM_000406
    TACR3 99.41 0 NM_001059
    OTUD4 98.02 0 NM_001102653
    PCSK1 99.63 0 NM_000439
    SOX9 99.60 0 NM_001035235
    SPRY4 99.69 0 NM_030964
    PROP1 99.69 0 NM_006261
    GLI3 99.55 0 NM_000168
    SEMA3E 99.45 0 NM_012431
    SEMA3A 99.53 0 NM_006080
    FEZF1 99.43 0 NM_001024613
    LEP 99.69 0 NM_000230
    FGF17 99.67 0 NM_003867
    GNRH1 99.54 0 NM_000825
    FGFR1 99.69 0 NM_023110
    CHD7 99.53 0 NM_017780
    TRAPPC9 99.57 0 NM_031466
    PALM2 98.64 0 NM_001037293
    NOTCH1 96.74 0 NM_017617
    NSMF 93.42 0 NM_015537
    MASTL 99.20 0 NM_032844
    FGF8 78.88 0 NM_033163
    WDR11 99.33 0 NM_018117
    CCKBR 99.61 0 NM_176875
    FSHB 99.64 0 NM_000510
    PLEKHA5 98.89 0 NM_001143821
    PDE3A 99.05 0 NM_000921
    TSPAN11 99.69 0 NM_001080509
    AMN1 99.52 0 NM_001113402
    TAC3 99.64 0 NM_013251
    DUSP6 99.68 0 NM_001946
    POLR3B 99.29 0 NM_018082
    CRY1 99.26 0 NM_004075
    NOS1 99.42 0 NM_000620
    SEMA7A 92.63 0 NM_003612
    DCC 99.55 0 NM_005215
    KISS1R 85.01 0 NM_032551
    AXL 99.69 0 NM_021913
    LHB 99.69 0 NM_000894
    PROKR2 99.69 0 NM_144773
    JAG1 97.49 0 NM_000214
    FLRT3 99.67 0 NM_198391
    SOX10 93.26 0 NM_006941
    ANOS1 93.11 0 NM_000216
    NR0B1 99.34 0 NM_000475
    FGF13 99.32 0 NM_004114
    SOX3 83.29 0 NM_005634
  • Hypogonadotropic hypogonadism (33 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANOS1 95.04 0 No comment
    CHD7 100.00 0 No comment
    DMXL2 100.00 0 No comment
    DUSP6 100.00 0 No comment
    FEZF1 100.00 0 No comment
    FGF17 100.00 0 No comment
    FGF8 94.82 0 No comment
    FGFR1 100.00 0 No comment
    FLRT3 100.00 0 No comment
    FSHB 100.00 0 No comment
    GNRH1 100.00 0 No comment
    GNRHR 100.00 0 No comment
    HESX1 100.00 0 No comment
    HS6ST1 98.52 0 No comment
    IL17RD 98.31 0 No comment
    KISS1 100.00 0 No comment
    KISS1R 94.58 0 No comment
    LHB 97.18 0 No comment
    MKRN3 100.00 0 No comment
    NR0B1 100.00 0 No comment
    NSMF 95.23 0 No comment
    OTUD4 100.00 0 No comment
    PCSK1 100.00 0 No comment
    PNPLA6 100.00 0 No comment
    PROK2 98.51 0 No comment
    PROKR2 100.00 0 No comment
    RNF216 100.00 0 No comment
    SEMA3A 100.00 0 No comment
    SEMA7A 93.22 0 No comment
    SOX10 96.79 0 No comment
    TAC3 100.00 0 No comment
    TACR3 100.00 0 No comment
    WDR11 100.00 0 No comment