1. Analytes
  2. USP48

USP48

Analyte Export to PDF
Name:
ubiquitin specific peptidase 48
Symbol:
USP48
Version of Orphanet:
2023-06-22 14:14:43
XREF(s):
Orphanet
HGNC
Ensembl
OMIM
SwissProt
Created:
17 May 2022 - 02:40
Changed:
26 Oct 2023 - 23:49
  • Hearing loss (deafness) (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.11 1
    ACTG1 100.00 1
    ADCY1 98.44 1
    ADGRV1 99.88 1
    AIFM1 99.43 1
    ATOH1 100.00 1
    ATP11A 99.99 1
    ATP2B2 99.96 1
    ATP6V0A4 99.83 1
    ATP6V1B1 99.92 1
    ATP6V1B2 99.91 1
    BDP1 99.89 1
    BSND 100.00 1
    CABP2 99.99 1
    CACNA1D 99.94 1
    CCDC50 99.92 1
    CD164 99.92 1
    CDC14A 99.95 1
    CDH23 99.95 1
    CEACAM16 99.92 1
    CEP250 99.98 1
    CEP78 99.83 1
    CHD7 99.96 1
    CIB2 99.99 1
    CISD2 99.95 1
    CLDN14 100.00 1
    CLIC5 99.98 1
    CLPP 100.00 1
    CLRN1 99.97 1
    COCH 99.90 1
    COL11A1 99.89 1
    COL11A2 99.35 1
    COL2A1 100.00 1
    COL4A3 99.94 1
    COL4A4 99.96 1
    COL4A5 99.18 1
    COL4A6 99.37 1
    COL9A1 99.98 1
    COL9A2 99.95 1
    COL9A3 99.86 1
    CRYL1 99.89 1
    CRYM 99.91 1
    DCDC2 99.93 1
    DIABLO 99.98 1
    DIAPH1 97.50 1
    DIAPH3 99.86 1
    DMXL2 99.40 1
    DNAAF10 99.97 1
    EDN3 100.00 1
    EDNRB 99.94 1
    ELMOD3 100.00 1
    EPHA10 97.51 1
    EPS8 99.87 1
    EPS8L2 99.87 1
    ERAL1 99.97 1
    ESPN 96.05 1
    ESRP1 99.81 1
    ESRRB 100.00 1
    EYA1 99.93 1
    EYA4 99.98 1
    FDXR 99.98 1
    FGF3 98.11 1
    FOXI1 100.00 1
    GATA3 99.89 1
    GIPC3 97.45 1
    GJB2 100.00 1
    GJB3 100.00 1
    GJB6 100.00 1
    GPSM2 99.94 1
    GRHL2 99.95 1
    GRXCR1 100.00 1
    GRXCR2 99.91 1
    GSDME 99.97 1
    HARS1 99.99 1
    HARS2 99.51 1
    HECTD3 99.39 1
    HGF 99.96 1
    HOMER2 99.74 1
    HOXA2 99.93 1
    HSD17B4 99.80 1
    IFNLR1 99.52 1
    ILDR1 99.95 1
    KARS1 99.91 1
    KCNE1 100.00 1
    KCNJ10 100.00 1
    KCNQ1 99.87 1
    KCNQ4 99.49 1
    KITLG 99.87 1
    LARS2 99.99 1
    LHFPL5 99.99 1
    LMX1A 100.00 1
    LOXHD1 99.73 1
    LRTOMT 99.99 1
    MARVELD2 99.96 1
    MCM2 99.96 1
    MET 99.97 1
    MIR96 100.00 1
    MITF 99.97 1
    MPZL2 99.96 1
    MSRB3 99.96 1
    MTAP 98.96 1
    MYH14 99.79 1
    MYH9 100.00 1
    MYO15A 99.59 1
    MYO3A 99.84 1
    MYO6 99.77 1
    MYO7A 99.99 1
    NARS2 99.94 1
    NDP 99.95 1
    NLRP3 99.90 1
    OSBPL2 100.00 1
    OTOA 99.83 1
    OTOF 99.95 1
    OTOG 99.99 1
    OTOGL 99.63 1
    P2RX2 99.91 1
    PAX3 99.98 1
    PCDH15 99.94 1
    PDE1C 99.92 1
    PDZD7 99.82 1
    PI4KB 99.55 1
    PJVK 99.79 1
    PLS1 99.80 1
    PNPT1 99.86 1
    POLR1B 99.95 1
    POLR1C 97.52 1
    POLR1D 99.72 1
    POU3F4 99.94 1
    POU4F3 100.00 1
    PPIP5K2 99.83 1
    PRPS1 99.79 1
    PTPRQ 99.83 1
    RDX 99.80 1
    REST 99.96 1
    RIPOR2 99.96 1
    ROR1 98.58 1
    S1PR2 100.00 1
    SALL1 99.99 1
    SEMA3E 99.97 1
    SERPINB6 98.21 1
    SIX1 100.00 1
    SIX5 99.87 1
    SLC12A2 98.96 1
    SLC17A8 99.95 1
    SLC22A4 99.96 1
    SLC26A4 99.95 1
    SLC26A5 99.95 1
    SLC4A11 99.99 1
    SLC7A8 99.99 1
    SLITRK6 100.00 1
    SMPX 99.37 1
    SNAI2 99.98 1
    SOX10 100.00 1
    SPATC1L 100.00 1
    SSBP1 99.99 1
    STRC 99.73 1
    SYNE4 100.00 1
    TBC1D24 99.97 1
    TCOF1 99.96 1
    TECTA 99.97 1
    THRAP3 99.89 1
    TIMM8A 99.78 1
    TJP2 99.94 1
    TMC1 99.83 1
    TMEM132E 99.75 1
    TMIE 99.95 1
    TMPRSS3 99.95 1
    TMTC2 99.96 1
    TNC 99.97 1
    TPRN 90.56 1
    TRIOBP 99.09 1
    TSPEAR 99.97 1
    TWNK 100.00 1
    USH1C 98.72 1
    USH1G 99.96 1
    USH2A 99.95 1
    USP48 99.80 1
    WBP2 99.86 1
    WFS1 100.00 1
    WHRN 99.69 1