Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000320892 [[7057522, 7057753], [7081078, 7081278], [7137046, 7137192], [7154584, 7154689], [7154842, 7154903], [7160603, 7160811], [7164499, 7164647], [7170256, 7170346], [7179759, 7184313]] [[7137057, 7137192], [7154584, 7154689], [7154842, 7154903], [7160603, 7160811], [7164499, 7164647], [7170256, 7170346], [7179759, 7179891]]
ENST00000467276 [[7057619, 7057753], [7081078, 7081278], [7160603, 7160899], [7164499, 7164647], [7170256, 7170346], [7179759, 7179791]] None
ENST00000416587 [[7073173, 7073361], [7081078, 7081278], [7137046, 7137192], [7154584, 7154614]] [[7137057, 7137192], [7154584, 7154614]]
ENST00000480970 [[7073214, 7073361], [7081078, 7081278], [7160603, 7160811], [7164499, 7164527]] None
ENST00000433456 [[7118754, 7118970], [7137046, 7137192], [7154584, 7154614]] [[7137057, 7137192], [7154584, 7154614]]
ENST00000471060 [[7136879, 7137192], [7154584, 7154689], [7154842, 7154903], [7160603, 7160708]] None
ENST00000432850 [[7137070, 7137192], [7154584, 7154689], [7154842, 7154903], [7160603, 7160811], [7164499, 7164647], [7170256, 7170346], [7208346, 7208417]] [[7137070, 7137192], [7154584, 7154689], [7154842, 7154903], [7160603, 7160811], [7164499, 7164647], [7170256, 7170346], [7208346, 7208406]]
NM_014746 [[7057522, 7057753], [7081078, 7081278], [7137046, 7137192], [7154584, 7154689], [7154842, 7154903], [7160603, 7160811], [7164499, 7164647], [7170256, 7170346], [7179759, 7184310]] [[7137057, 7137192], [7154584, 7154689], [7154842, 7154903], [7160603, 7160811], [7164499, 7164647], [7170256, 7170346], [7179759, 7179891]]
Promoter
Chrom Start End Description
chr2 7057536 7057613 CAGE_peak_1_at_RNF144A_5end
chr2 7057615 7057634 CAGE_peak_3_at_RNF144A_5end
chr2 7057698 7057710 CAGE_peak_5_at_RNF144A_5end
chr2 7073180 7073194 CAGE_peak_4_at_RNF144A_5end
chr2 7073206 7073223 CAGE_peak_2_at_RNF144A_5end
chr2 7118809 7118812 CAGE_peak_8_at_RNF144A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I006886 6885170 6885267 0.2 [{'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.37}, {'connected_gene': 'CMPK2', 'score': 0.37}]
chr2 GH02I006883 6883242 6884582 0.75 [{'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.37}, {'connected_gene': 'CMPK2', 'score': 0.37}]
chr2 GH02I006879 6879705 6882279 1.31 [{'connected_gene': 'RNF144A', 'score': 11.5}, {'connected_gene': 'RNF144A-AS1', 'score': 11.5}, {'connected_gene': 'CMPK2', 'score': 0.39}, {'connected_gene': 'RSAD2', 'score': 0.37}, {'connected_gene': 'GC02P006897', 'score': 0.37}]
chr2 GH02I006919 6919130 6919279 0.87 [{'connected_gene': 'RNF144A', 'score': 550.77}, {'connected_gene': 'RNF144A-AS1', 'score': 550.77}, {'connected_gene': 'CMPK2', 'score': 11.09}, {'connected_gene': 'GC02M007018', 'score': 0.15}]
chr2 GH02I006938 6938648 6940456 0.31 [{'connected_gene': 'RNF144A', 'score': 16.92}, {'connected_gene': 'RNF144A-AS1', 'score': 11.26}, {'connected_gene': 'NRIR', 'score': 9.74}, {'connected_gene': 'ENSG00000271947', 'score': 5.44}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2 GH02I006940 6940995 6941169 0.31 [{'connected_gene': 'RNF144A', 'score': 11.26}, {'connected_gene': 'RNF144A-AS1', 'score': 11.26}, {'connected_gene': 'NRIR', 'score': 9.74}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2 GH02I006943 6942193 6942589 0.44 [{'connected_gene': 'RNF144A', 'score': 14.21}, {'connected_gene': 'RNF144A-AS1', 'score': 11.26}, {'connected_gene': 'NRIR', 'score': 9.74}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2 GH02I006941 6941833 6942129 0.31 [{'connected_gene': 'RNF144A', 'score': 11.26}, {'connected_gene': 'RNF144A-AS1', 'score': 11.26}, {'connected_gene': 'NRIR', 'score': 9.74}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2 GH02I006942 6942958 6946217 0.76 [{'connected_gene': 'RNF144A', 'score': 11.71}, {'connected_gene': 'RNF144A-AS1', 'score': 11.71}, {'connected_gene': 'NRIR', 'score': 9.74}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2 GH02I006949 6949917 6951022 0.2 [{'connected_gene': 'RNF144A', 'score': 11.69}, {'connected_gene': 'RNF144A-AS1', 'score': 11.69}, {'connected_gene': 'GC02M007018', 'score': 0.19}]
chr2 GH02I006999 6999635 7000409 0.43 [{'connected_gene': 'RNF144A', 'score': 23.74}, {'connected_gene': 'RNF144A-AS1', 'score': 10.96}, {'connected_gene': 'GC02M007018', 'score': 0.34}]
chr2 GH02I006923 6923003 6923921 0.2 [{'connected_gene': 'RNF144A', 'score': 5.87}, {'connected_gene': 'RNF144A-AS1', 'score': 0.77}, {'connected_gene': 'GC02M007018', 'score': 0.15}]
chr2 GH02I006976 6976150 6976319 0.56 [{'connected_gene': 'RNF144A', 'score': 11.04}, {'connected_gene': 'RNF144A-AS1', 'score': 11.04}, {'connected_gene': 'GC02M007018', 'score': 0.25}]
chr2 GH02I006934 6934001 6934200 0.51 [{'connected_gene': 'RNF144A', 'score': 0.37}, {'connected_gene': 'RNF144A-AS1', 'score': 0.37}, {'connected_gene': 'GC02M007018', 'score': 0.17}]
chr2 GH02I007013 7013800 7018247 1.14 [{'connected_gene': 'RNF144A', 'score': 23.79}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02M007018', 'score': 0.44}]
chr2 GH02I006963 6963594 6964320 0.2 [{'connected_gene': 'RNF144A', 'score': 11.82}, {'connected_gene': 'RNF144A-AS1', 'score': 11.82}, {'connected_gene': 'GC02M007018', 'score': 0.22}]
chr2 GH02I006990 6990543 6991769 0.31 [{'connected_gene': 'RNF144A', 'score': 23.13}, {'connected_gene': 'RNF144A-AS1', 'score': 11.1}, {'connected_gene': 'GC02M007018', 'score': 0.29}]
chr2 GH02I006924 6924582 6924789 0.2 [{'connected_gene': 'RNF144A', 'score': 0.44}, {'connected_gene': 'RNF144A-AS1', 'score': 0.44}, {'connected_gene': 'GC02M007018', 'score': 0.15}]
chr2 GH02I007006 7006786 7006989 0.2 [{'connected_gene': 'RNF144A', 'score': 12.33}, {'connected_gene': 'RNF144A-AS1', 'score': 12.33}, {'connected_gene': 'GC02M007018', 'score': 0.37}]
chr2 GH02I007000 6999201 6999600 0.63 [{'connected_gene': 'RNF144A', 'score': 23.73}, {'connected_gene': 'RNF144A-AS1', 'score': 10.96}, {'connected_gene': 'GC02M007018', 'score': 0.34}]
chr2 GH02I006992 6992364 6993800 0.83 [{'connected_gene': 'RNF144A', 'score': 25.05}, {'connected_gene': 'RNF144A-AS1', 'score': 11.1}, {'connected_gene': 'GC02M007018', 'score': 0.29}]
chr2 GH02I006933 6933035 6933094 0.81 [{'connected_gene': 'RNF144A', 'score': 550.37}, {'connected_gene': 'RNF144A-AS1', 'score': 0.39}, {'connected_gene': 'GC02M007018', 'score': 0.16}]
chr2 GH02I006915 6915470 6915619 0.66 [{'connected_gene': 'RNF144A', 'score': 550.77}, {'connected_gene': 'RNF144A-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000271947', 'score': 0.44}]
chr2 GH02I006954 6954715 6957798 0.56 [{'connected_gene': 'RNF144A', 'score': 11.45}, {'connected_gene': 'RNF144A-AS1', 'score': 11.45}, {'connected_gene': 'GC02M007018', 'score': 0.2}]
chr2 GH02I006937 6934801 6935000 0.69 [{'connected_gene': 'RNF144A', 'score': 5.76}, {'connected_gene': 'RNF144A-AS1', 'score': 0.37}, {'connected_gene': 'GC02M007018', 'score': 0.17}]
chr2 GH02I007007 7007000 7013343 1.34 [{'connected_gene': 'RNF144A', 'score': 25.8}, {'connected_gene': 'RNF144A-AS1', 'score': 12.32}, {'connected_gene': 'GC02M007018', 'score': 0.39}]
chr2 GH02I006988 6988151 6989997 0.31 [{'connected_gene': 'RNF144A', 'score': 24.3}, {'connected_gene': 'RNF144A-AS1', 'score': 11.1}, {'connected_gene': 'GC02M007018', 'score': 0.29}]
chr2 GH02I007020 7020259 7020815 0.2 [{'connected_gene': 'RNF144A', 'score': 9.0}, {'connected_gene': 'GC02M007018', 'score': 0.77}, {'connected_gene': 'RNF144A-AS1', 'score': 0.15}]
chr2 GH02I006959 6959789 6961303 0.81 [{'connected_gene': 'RNF144A', 'score': 11.83}, {'connected_gene': 'RNF144A-AS1', 'score': 11.83}, {'connected_gene': 'GC02M007018', 'score': 0.21}]
chr2 GH02I006916 6916830 6918801 2 [{'connected_gene': 'RNF144A', 'score': 556.62}, {'connected_gene': 'RNF144A-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000271947', 'score': 5.55}]
chr2 GH02I006994 6994201 6994400 0.4 [{'connected_gene': 'RNF144A', 'score': 11.29}, {'connected_gene': 'RNF144A-AS1', 'score': 11.29}, {'connected_gene': 'GC02M007018', 'score': 0.31}]
chr2 GH02I006921 6921198 6922607 1.12 [{'connected_gene': 'RNF144A', 'score': 8.24}, {'connected_gene': 'RNF144A-AS1', 'score': 0.77}, {'connected_gene': 'GC02M007018', 'score': 0.15}]
chr2 GH02I006914 6914950 6915236 0.66 [{'connected_gene': 'RNF144A', 'score': 0.77}, {'connected_gene': 'RNF144A-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000271947', 'score': 0.44}]
chr2 GH02I006961 6961330 6961917 0.31 [{'connected_gene': 'RNF144A', 'score': 11.83}, {'connected_gene': 'RNF144A-AS1', 'score': 11.83}, {'connected_gene': 'GC02M007018', 'score': 0.21}]
chr2 GH02I006995 6995674 6996564 0.2 [{'connected_gene': 'RNF144A', 'score': 23.81}, {'connected_gene': 'RNF144A-AS1', 'score': 11.29}, {'connected_gene': 'GC02M007018', 'score': 0.31}]
chr2 GH02I007830 7830360 7831211 0.31 [{'connected_gene': 'RNF144A', 'score': 4.33}, {'connected_gene': 'LOC105373408', 'score': 0.29}, {'connected_gene': 'LOC100130731', 'score': 0.16}]
chr2 GH02I007045 7045978 7046875 0.2 [{'connected_gene': 'RNF144A', 'score': 19.59}, {'connected_gene': 'LOC101929452', 'score': 11.18}, {'connected_gene': 'RNF144A-AS1', 'score': 11.02}, {'connected_gene': 'ENSG00000272002', 'score': 5.42}, {'connected_gene': 'GC02M007055', 'score': 0.39}, {'connected_gene': 'GC02M007018', 'score': 0.34}]
chr2 GH02I007043 7043685 7045223 0.63 [{'connected_gene': 'RNF144A', 'score': 17.89}, {'connected_gene': 'LOC101929452', 'score': 11.18}, {'connected_gene': 'RNF144A-AS1', 'score': 11.02}, {'connected_gene': 'ENSG00000272002', 'score': 5.42}, {'connected_gene': 'GC02M007055', 'score': 0.39}, {'connected_gene': 'GC02M007018', 'score': 0.34}]
chr2 GH02I007026 7026011 7027790 0.58 [{'connected_gene': 'RNF144A', 'score': 12.61}, {'connected_gene': 'ENSG00000272002', 'score': 5.42}, {'connected_gene': 'GC02M007018', 'score': 0.77}, {'connected_gene': 'GC02M007055', 'score': 0.29}]
chr2 GH02I007029 7029001 7029719 0.46 [{'connected_gene': 'RNF144A', 'score': 5.78}, {'connected_gene': 'GC02M007018', 'score': 0.44}, {'connected_gene': 'GC02M007055', 'score': 0.31}]
chr2 GH02I007031 7031019 7032990 1.63 [{'connected_gene': 'RNF144A', 'score': 8.61}, {'connected_gene': 'ENSG00000272002', 'score': 5.47}, {'connected_gene': 'GC02M007018', 'score': 0.44}, {'connected_gene': 'GC02M007055', 'score': 0.31}]
chr2 GH02I007058 7058887 7060147 0.71 [{'connected_gene': 'RNF144A', 'score': 7.71}, {'connected_gene': 'GC02M007055', 'score': 0.77}, {'connected_gene': 'GC02P007071', 'score': 0.39}]
chr2 GH02I007051 7051518 7051800 0.23 [{'connected_gene': 'RNF144A', 'score': 2.07}, {'connected_gene': 'GC02M007055', 'score': 0.44}, {'connected_gene': 'GC02M007018', 'score': 0.31}]
chr2 GH02I007033 7033189 7038871 0.62 [{'connected_gene': 'RNF144A', 'score': 7.86}, {'connected_gene': 'ENSG00000272002', 'score': 5.47}, {'connected_gene': 'GC02M007018', 'score': 0.39}, {'connected_gene': 'GC02M007055', 'score': 0.34}]
chr2 GH02I006885 6885381 6886894 1.05 [{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}, {'connected_gene': 'CMPK2', 'score': 0.37}]
chr2 GH02I006946 6946781 6947040 0.72 [{'connected_gene': 'RSAD2', 'score': 19.54}, {'connected_gene': 'RNF144A', 'score': 11.71}, {'connected_gene': 'RNF144A-AS1', 'score': 11.71}, {'connected_gene': 'CMPK2', 'score': 9.42}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2 GH02I006887 6887278 6888501 1.13 [{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'CMPK2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 12.0}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.44}]
chr2 GH02I006888 6888602 6888709 0.43 [{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'CMPK2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 12.0}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.44}]
chr2 GH02I006889 6887089 6887177 0.2 [{'connected_gene': 'RSAD2', 'score': 12.1}, {'connected_gene': 'CMPK2', 'score': 12.1}, {'connected_gene': 'RNF144A', 'score': 11.98}, {'connected_gene': 'RNF144A-AS1', 'score': 11.98}, {'connected_gene': 'GC02P006897', 'score': 0.39}]
chr2 GH02I006908 6908469 6911595 1.35 [{'connected_gene': 'RSAD2', 'score': 11.44}, {'connected_gene': 'CMPK2', 'score': 11.44}, {'connected_gene': 'ENSG00000271947', 'score': 9.13}, {'connected_gene': 'RNF144A', 'score': 0.44}]
chr2 GH02I006964 6964950 6974904 0.56 [{'connected_gene': 'RNF144A-AS1', 'score': 26.87}, {'connected_gene': 'RNF144A', 'score': 19.98}, {'connected_gene': 'GC02M007018', 'score': 0.23}]
chr2 GH02I006982 6982302 6984846 0.31 [{'connected_gene': 'RNF144A-AS1', 'score': 23.76}, {'connected_gene': 'RNF144A', 'score': 19.64}, {'connected_gene': 'GC02M007018', 'score': 0.26}]
chr2 GH02I006947 6947277 6949863 0.38 [{'connected_gene': 'RNF144A-AS1', 'score': 11.71}, {'connected_gene': 'RNF144A', 'score': 11.69}, {'connected_gene': 'GC02M007018', 'score': 0.18}]
chr2 GH02I006977 6977330 6977479 0.4 [{'connected_gene': 'RNF144A-AS1', 'score': 19.04}, {'connected_gene': 'RNF144A', 'score': 11.03}, {'connected_gene': 'GC02M007018', 'score': 0.25}]
chr2 GH02I006957 6957890 6959392 0.58 [{'connected_gene': 'RNF144A-AS1', 'score': 11.37}, {'connected_gene': 'RNF144A', 'score': 11.36}, {'connected_gene': 'GC02M007018', 'score': 0.2}]
chr2 GH02I006985 6985944 6987787 0.99 [{'connected_gene': 'RNF144A-AS1', 'score': 12.66}, {'connected_gene': 'RNF144A', 'score': 12.05}, {'connected_gene': 'GC02M007018', 'score': 0.28}]
chr2 GH02I007004 7004422 7005054 0.51 [{'connected_gene': 'CMPK2', 'score': 10.78}, {'connected_gene': 'RNF144A', 'score': 5.66}, {'connected_gene': 'GC02M007018', 'score': 0.37}, {'connected_gene': 'RNF144A-AS1', 'score': 0.17}]
chr2 GH02I007077 7077217 7078639 0.31 [{'connected_gene': 'LOC101929452', 'score': 550.77}, {'connected_gene': 'RNF144A', 'score': 5.0}, {'connected_gene': 'GC02M007092', 'score': 0.34}]
chr2 GH02I006936 6936577 6938147 0.2 [{'connected_gene': 'ENSG00000271947', 'score': 5.45}, {'connected_gene': 'RNF144A', 'score': 0.37}, {'connected_gene': 'RNF144A-AS1', 'score': 0.37}, {'connected_gene': 'GC02M007018', 'score': 0.17}]
chr2 GH02I007021 7021465 7025294 1.02 [{'connected_gene': 'GC02M007018', 'score': 550.77}, {'connected_gene': 'RNF144A', 'score': 13.73}, {'connected_gene': 'RNF144A-AS1', 'score': 0.15}]
chr2 GH02I006986 6985324 6985745 0.2 [{'connected_gene': 'GC02M007018', 'score': 0.28}, {'connected_gene': 'RNF144A', 'score': 0.2}, {'connected_gene': 'RNF144A-AS1', 'score': 0.2}]
chr2 GH02I006935 6935256 6935388 0.31 [{'connected_gene': 'ENSG00000271947', 'score': 5.47}, {'connected_gene': 'RNF144A', 'score': 0.37}, {'connected_gene': 'RNF144A-AS1', 'score': 0.37}, {'connected_gene': 'GC02M007018', 'score': 0.17}]
chr2 GH02I006925 6925015 6928143 0.78 [{'connected_gene': 'ENSG00000271947', 'score': 6.97}, {'connected_gene': 'RNF144A', 'score': 5.4}, {'connected_gene': 'RNF144A-AS1', 'score': 0.44}, {'connected_gene': 'GC02M007018', 'score': 0.15}]
chr2 GH02I006930 6930797 6931652 0.2 [{'connected_gene': 'ENSG00000271947', 'score': 5.52}, {'connected_gene': 'RNF144A', 'score': 0.39}, {'connected_gene': 'RNF144A-AS1', 'score': 0.39}, {'connected_gene': 'GC02M007018', 'score': 0.16}]
chr2 GH02I007057 7057595 7058819 1.03 [{'connected_gene': 'GC02M007055', 'score': 550.77}, {'connected_gene': 'GC02P007071', 'score': 0.39}, {'connected_gene': 'RNF144A', 'score': 0.11}]
chr2 GH02I007027 7027918 7028813 0.2 [{'connected_gene': 'GC02M007018', 'score': 0.77}, {'connected_gene': 'GC02M007055', 'score': 0.31}, {'connected_gene': 'RNF144A', 'score': 0.14}]
chr2 GH02I007071 7071200 7071401 0.2 [{'connected_gene': 'GC02P007071', 'score': 550.77}, {'connected_gene': 'LOC101929452', 'score': 0.44}, {'connected_gene': 'GC02M007055', 'score': 0.39}, {'connected_gene': 'RNF144A', 'score': 0.1}]
chr2 GH02I007072 7071801 7072201 0.87 [{'connected_gene': 'GC02P007071', 'score': 550.77}, {'connected_gene': 'LOC101929452', 'score': 0.44}, {'connected_gene': 'RNF144A', 'score': 0.1}]

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