From: Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
Exon/Patient | C | P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | P9 | P10 | P11 | P12 | P13 | P14 | P15* | P16 | P17 | P18 | P19 | P20 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Ex 1a | 0.936 | 0.974 | 0.920 | 0.922 | 1.034 | 0.921 | 0.904 | 1.020 | 0.922 | 0.956 | 0.796 | 0.969 | 1.016 | 0.959 | 0.982 | 0.957 | 1.032 | 0.804 | 0.884 | 0.837 | 0.994 |
Ex 1b | 0.934 | 0.970 | 0.903 | 0.945 | 0.938 | 0.953 | 1.010 | 1.061 | 0.903 | 0.991 | 0.856 | 1.030 | 1.015 | 0.943 | 0.998 | 0.943 | 0.904 | 1.032 | 0.851 | 0.960 | 0.959 |
Ex 2 | 1.005 | 0.992 | 1.014 | 1.071 | 1.014 | 1.045 | 0.971 | 1.006 | 0.968 | 0.991 | 0.859 | 1.001 | 1.012 | 1.002 | 1.030 | 0.908 | 0.974 | 0.885 | 0.983 | 1.000 | 0.963 |
Ex 3 | 0.954 | 1.905 | 0.975 | 1.042 | 1.021 | 1.006 | 1.012 | 1.765 | 0.861 | 1.752 | 1.717 | 0.973 | 1.021 | 0.946 | 1.017 | 0.985 | 0.999 | 0.969 | 0.924 | 0.979 | 0.954 |
Ex 4 | 1.028 | 2.009 | 1.024 | 1.155 | 1.052 | 1.009 | 1.076 | 1.910 | 1.088 | 1.878 | 1.903 | 0.848 | 1.033 | 0.956 | 0.997 | 0.956 | 0.995 | 1.125 | 1.024 | 0.979 | 1.002 |
Ex 5 | 0.990 | 0.944 | 1.841 | 1.011 | 0.971 | 1.014 | 1.082 | 1.889 | 1.686 | 1.880 | 1.662 | 0.915 | 0.932 | 0.952 | 1.170 | 0.946 | 0.904 | 1.030 | 0.948 | 0.987 | 0.948 |
Ex 6 | 0.953 | 0.964 | 1.914 | 2.096 | 0.934 | 0.939 | 1.884 | 1.000 | 1.813 | 1.850 | 1.723 | 1.725 | 0.983 | 0.949 | 1.030 | 0.961 | 1.012 | 0.941 | 0.882 | 1.009 | 0.933 |
Ex 7 | 1.017 | 0.931 | 0.988 | 1.960 | 0.943 | 1.011 | 1.925 | 0.981 | 1.688 | 1.860 | 1.629 | 1.827 | 2.339 | 1.874 | 1.879 | 1.305 | 1.011 | 0.946 | 0.912 | 0.971 | 0.935 |
Ex 8 | 0.950 | 1.050 | 1.000 | 0.748 | 1.014 | 1.015 | 1.034 | 0.990 | 1.010 | 1.854 | 1.980 | 1.723 | 2.908 | 1.943 | 1.845 | 1.343 | 1.943 | 2.346 | 1.786 | 1.845 | 1.884 |
Ex 9 | 0.990 | 1.049 | 1.035 | 1.057 | 1.021 | 1.026 | 1.032 | 0.970 | 1.062 | 1.937 | 1.884 | 1.762 | 2.904 | 2.055 | 2.010 | 1.330 | 1.994 | 1.985 | 1.769 | 1.873 | 1.789 |
Ex 10 | 0.903 | 1.020 | 1.031 | 0.872 | 1.003 | 0.968 | 0.993 | 1.023 | 0.977 | 1.816 | 1.834 | 1.742 | 2.845 | 1.917 | 1.772 | 1.536 | 1.875 | 1.989 | 1.860 | 1.883 | 1.633 |
Ex 11 | 1.031 | 0.979 | 1.024 | 1.000 | 1.004 | 0.970 | 1.094 | 1.024 | 1.058 | 1.800 | 1.847 | 1.842 | 0.990 | 1.855 | 1.911 | 1.455 | 1.842 | 2.119 | 1.636 | 1.930 | 1.936 |
Ex 12 | 1.060 | 1.032 | 1.032 | 1.069 | 1.070 | 1.013 | 1.037 | 1.000 | 1.014 | 1.870 | 1.564 | 1.962 | 1.032 | 1.644 | 2.234 | 1.211 | 1.762 | 1.703 | 2.118 | 1.858 | 1.761 |
Ex 13 | 1.058 | 1.068 | 1.041 | 1.148 | 1.907 | 0.855 | 1.104 | 1.095 | 0.988 | 1.635 | 1.756 | 2.901 | 1.025 | 1.014 | 1.199 | 1.290 | 1.034 | 0.909 | 1.995 | 1.846 | 1.838 |
Ex 14 | 1.000 | 0.989 | 1.010 | 0.978 | 1.649 | 1.034 | 1.184 | 1.005 | 0.979 | 0.907 | 1.853 | 2.569 | 0.949 | 0.973 | 1.196 | 1.345 | 0.942 | 1.203 | 1.969 | 1.886 | 1.910 |
Ex 15 | 1.040 | 1.026 | 0.988 | 0.806 | 1.024 | 0.938 | 1.031 | 0.972 | 1.008 | 0.950 | 1.717 | 1.996 | 1.022 | 0.981 | 1.042 | 0.995 | 1.088 | 0.940 | 1.053 | 1.907 | 1.855 |
Ex 16 | 0.998 | 1.095 | 1.043 | 1.031 | 1.050 | 1.946 | 1.066 | 0.967 | 0.980 | 0.990 | 1.687 | 0.943 | 1.054 | 1.075 | 0.995 | 1.075 | 1.102 | 0.905 | 0.862 | 1.029 | 1.721 |
Ex 17 | 0.997 | 0.990 | 0.965 | 0.963 | 1.003 | 1.786 | 1.007 | 0.993 | 0.958 | 0.975 | 1.686 | 0.834 | 0.964 | 0.960 | 1.042 | 0.920 | 1.012 | 0.926 | 0.930 | 0.990 | 1.861 |
Ex 18 | 0.994 | 1.017 | 0.972 | 1.019 | 0.978 | 0.964 | 1.160 | 0.984 | 0.991 | 0.936 | 0.949 | 0.874 | 1.002 | 1.009 | 0.922 | 1.009 | 0.984 | 1.120 | 0.915 | 0.999 | 0.942 |
Ex 19 | 0.964 | 1.035 | 1.030 | 1.128 | 1.036 | 0.983 | 0.061 | 1.003 | 1.041 | 1.006 | 0.934 | 0.904 | 1.045 | 1.008 | 1.088 | 1.008 | 1.073 | 0.946 | 0.962 | 0.990 | 0.904 |
Ex 20 | 0.976 | 0.957 | 0.991 | 0.825 | 0.981 | 0.986 | 0.912 | 0.990 | 0.979 | 0.917 | 0.921 | 0.918 | 1.008 | 1.018 | 1.057 | 0.925 | 0.993 | 0.980 | 0.729 | 0.993 | 0.924 |
Ex 21 | 0.977 | 1.054 | 1.035 | 0.866 | 1.066 | 1.011 | 1.001 | 0.959 | 0.961 | 0.950 | 0.905 | 0.910 | 1.044 | 1.064 | 1.120 | 1.064 | 1.003 | 0.928 | 0.775 | 0.995 | 0.957 |
Ex 22 | 0.968 | 0.963 | 0.927 | 1.059 | 0.985 | 0.930 | 1.154 | 0.994 | 0.974 | 1.002 | 0.907 | 0.952 | 0.970 | 0.949 | 1.164 | 0.904 | 0.959 | 1.072 | 1.152 | 0.956 | 0.945 |