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
ENST00000313143 [[183873175, 183873584], [183881444, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884310], [183884393, 183884461], [183884613, 183884763], [183885367, 183885499], [183885685, 183885853], [183887793, 183888009], [183888106, 183891398]] [[183873423, 183873584], [183881444, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884310], [183884393, 183884461], [183884613, 183884763], [183885367, 183885499], [183885685, 183885853], [183887793, 183888009], [183888106, 183888543]]
ENST00000435708 [[183873345, 183873584], [183874147, 183874235], [183881444, 183881514], [183882054, 183882176], [183882265, 183882305]] [[183873423, 183873584], [183874147, 183874220]]
ENST00000431765 [[183873347, 183873584], [183881444, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884310], [183884393, 183884461], [183884664, 183884763], [183885367, 183885499], [183885685, 183885853], [183887793, 183888009], [183888106, 183888661]] [[183873423, 183873584], [183881444, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884310], [183884393, 183884461], [183884664, 183884763], [183885367, 183885499], [183885685, 183885853], [183887793, 183888009], [183888106, 183888543]]
ENST00000462665 [[183873349, 183873584], [183881444, 183881514], [183882054, 183882176], [183882265, 183882389], [183882583, 183882700]] None
ENST00000423300 [[183874562, 183874855], [183881444, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884297]] [[183882129, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884297]]
ENST00000478247 [[183881464, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884310], [183884393, 183884461], [183884613, 183884763], [183885367, 183885499], [183885685, 183885853], [183887793, 183888009], [183888106, 183888664]] None
ENST00000467873 [[183882434, 183882994], [183883209, 183883266]] None
ENST00000478639 [[183883981, 183884053], [183884233, 183884489]] None
NM_004423 [[183873283, 183873584], [183881444, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884310], [183884393, 183884461], [183884613, 183884763], [183885367, 183885499], [183885685, 183885853], [183887793, 183888009], [183888106, 183891314]] [[183873423, 183873584], [183881444, 183881514], [183882054, 183882176], [183882279, 183882389], [183882583, 183882719], [183882900, 183882994], [183883209, 183883279], [183883913, 183884053], [183884233, 183884310], [183884393, 183884461], [183884613, 183884763], [183885367, 183885499], [183885685, 183885853], [183887793, 183888009], [183888106, 183888543]]
Promoter
Chrom Start End Description
chr3 183872893 183872906 CAGE_peak_4_at_DVL3_5end
chr3 183873098 183873230 CAGE_peak_1_at_DVL3_5end
chr3 183873240 183873369 CAGE_peak_2_at_DVL3_5end
chr3 183882628 183882643 CAGE_peak_3_at_DVL3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I184195 184195157 184197102 0.31 [{'connected_gene': 'ECE2', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.5}, {'connected_gene': 'ALG3', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4', 'score': 11.5}, {'connected_gene': 'VWA5B2', 'score': 11.37}, {'connected_gene': 'EIF2B5', 'score': 11.22}, {'connected_gene': 'MIR1224', 'score': 11.12}, {'connected_gene': 'CAMK2N2', 'score': 10.98}, {'connected_gene': 'HTR3C', 'score': 10.68}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'EIF4G1', 'score': 10.25}, {'connected_gene': 'HTR3E-AS1', 'score': 9.91}, {'connected_gene': 'FAM131A', 'score': 9.86}, {'connected_gene': 'ABCC5', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.99}, {'connected_gene': 'ABCF3', 'score': 0.39}]
chr3 GH03I184261 184261000 184263375 2.09 [{'connected_gene': 'CAMK2N2', 'score': 553.64}, {'connected_gene': 'VWA5B2', 'score': 16.86}, {'connected_gene': 'DVL3', 'score': 13.19}, {'connected_gene': 'RPS3P3', 'score': 12.35}, {'connected_gene': 'POLR2H', 'score': 11.22}, {'connected_gene': 'EIF2B5', 'score': 10.15}, {'connected_gene': 'ECE2', 'score': 4.75}, {'connected_gene': 'EEF1AKMT4', 'score': 0.39}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 0.39}, {'connected_gene': 'PSMD2', 'score': 0.28}]
chr3 GH03I184167 184167463 184170205 0.58 [{'connected_gene': 'VWA5B2', 'score': 19.79}, {'connected_gene': 'EIF2B5', 'score': 11.74}, {'connected_gene': 'ALG3', 'score': 10.53}, {'connected_gene': 'ECE2', 'score': 10.53}, {'connected_gene': 'EEF1AKMT4', 'score': 10.53}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.53}, {'connected_gene': 'CAMK2N2', 'score': 10.46}, {'connected_gene': 'MIR1224', 'score': 10.38}, {'connected_gene': 'HTR3C', 'score': 9.94}, {'connected_gene': 'AP2M1', 'score': 0.44}, {'connected_gene': 'DVL3', 'score': 0.39}]
chr3 GH03I184162 184162364 184163616 0.2 [{'connected_gene': 'VWA5B2', 'score': 19.6}, {'connected_gene': 'ABCF3', 'score': 12.31}, {'connected_gene': 'EIF2B5', 'score': 12.24}, {'connected_gene': 'CAMK2N2', 'score': 10.6}, {'connected_gene': 'ALG3', 'score': 10.56}, {'connected_gene': 'ECE2', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.56}, {'connected_gene': 'MIR1224', 'score': 10.42}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'PSMD2', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'FAM131A', 'score': 9.0}, {'connected_gene': 'DVL3', 'score': 0.44}, {'connected_gene': 'AP2M1', 'score': 0.39}]
chr3 GH03I184192 184192560 184194621 0.31 [{'connected_gene': 'VWA5B2', 'score': 21.18}, {'connected_gene': 'ALG3', 'score': 11.49}, {'connected_gene': 'ECE2', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.49}, {'connected_gene': 'MIR1224', 'score': 10.82}, {'connected_gene': 'CAMK2N2', 'score': 10.71}, {'connected_gene': 'ABCF3', 'score': 10.63}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'HTR3C', 'score': 9.96}, {'connected_gene': 'HTR3E-AS1', 'score': 9.92}, {'connected_gene': 'EIF4G1', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.19}]
chr3 GH03I184160 184160073 184161642 0.96 [{'connected_gene': 'EIF2B5', 'score': 12.24}, {'connected_gene': 'ABCF3', 'score': 10.85}, {'connected_gene': 'CAMK2N2', 'score': 10.59}, {'connected_gene': 'ALG3', 'score': 10.56}, {'connected_gene': 'ECE2', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4', 'score': 10.56}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.56}, {'connected_gene': 'VWA5B2', 'score': 10.44}, {'connected_gene': 'MIR1224', 'score': 10.41}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'PSMD2', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'FAM131A', 'score': 9.01}, {'connected_gene': 'DVL3', 'score': 0.44}, {'connected_gene': 'AP2M1', 'score': 0.39}]
chr3 GH03I184133 184133681 184136794 2.1 [{'connected_gene': 'EIF2B5', 'score': 563.07}, {'connected_gene': 'ENSG00000273181', 'score': 556.34}, {'connected_gene': 'LOC105374249', 'score': 550.77}, {'connected_gene': 'ENSG00000272721', 'score': 550.77}, {'connected_gene': 'DVL3', 'score': 20.83}, {'connected_gene': 'VWA5B2', 'score': 18.01}, {'connected_gene': 'RPS3P3', 'score': 17.38}, {'connected_gene': 'POLR2H', 'score': 15.89}, {'connected_gene': 'AP2M1', 'score': 10.69}, {'connected_gene': 'ABCC5-AS1', 'score': 10.49}, {'connected_gene': 'ABCC5', 'score': 10.28}, {'connected_gene': 'HTR3C', 'score': 9.68}, {'connected_gene': 'CAMK2N2', 'score': 9.68}, {'connected_gene': 'EIF4G1', 'score': 8.74}]
chr3 GH03I183284 183284189 183288481 1.71 [{'connected_gene': 'B3GNT5', 'score': 25.64}, {'connected_gene': 'DVL3', 'score': 15.91}, {'connected_gene': 'MCCC1-AS1', 'score': 13.67}, {'connected_gene': 'PARL', 'score': 13.46}, {'connected_gene': 'RNA5SP151', 'score': 13.17}, {'connected_gene': 'RPS3P3', 'score': 13.09}, {'connected_gene': 'EIF2B5', 'score': 12.8}, {'connected_gene': 'MCCC1', 'score': 10.26}, {'connected_gene': 'KLHL6', 'score': 9.92}, {'connected_gene': 'ATP11B', 'score': 4.59}, {'connected_gene': 'KLHL24', 'score': 2.45}, {'connected_gene': 'GC03M183259', 'score': 0.31}, {'connected_gene': 'MCF2L2', 'score': 0.11}]
chr3 GH03I183178 183178601 183180462 1 [{'connected_gene': 'MCCC1', 'score': 16.67}, {'connected_gene': 'RPS3P3', 'score': 12.01}, {'connected_gene': 'DVL3', 'score': 10.69}, {'connected_gene': 'MCF2L2', 'score': 10.51}, {'connected_gene': 'ATP11B', 'score': 10.19}, {'connected_gene': 'EIF2B5', 'score': 9.67}, {'connected_gene': 'SNORD3P4', 'score': 0.77}, {'connected_gene': 'B3GNT5', 'score': 0.19}]
chr3 GH03I183883 183883179 183885600 2.11 [{'connected_gene': 'PARL', 'score': 563.22}, {'connected_gene': 'ENSG00000283765', 'score': 550.77}, {'connected_gene': 'RPSAP31', 'score': 550.77}, {'connected_gene': 'POLR2H', 'score': 12.59}, {'connected_gene': 'YEATS2-AS1', 'score': 12.57}, {'connected_gene': 'RPS3P3', 'score': 12.05}, {'connected_gene': 'DVL3', 'score': 10.73}, {'connected_gene': 'EIF2B5', 'score': 9.72}, {'connected_gene': 'ABCC5', 'score': 5.41}, {'connected_gene': 'MAP6D1', 'score': 5.12}]
chr3 GH03I184184 184184280 184187914 2.27 [{'connected_gene': 'ABCF3', 'score': 562.78}, {'connected_gene': 'VWA5B2', 'score': 21.22}, {'connected_gene': 'POLR2H', 'score': 13.96}, {'connected_gene': 'EIF2B5', 'score': 10.89}, {'connected_gene': 'ALG3', 'score': 10.76}, {'connected_gene': 'ECE2', 'score': 10.76}, {'connected_gene': 'EEF1AKMT4', 'score': 10.76}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.76}, {'connected_gene': 'MIR1224', 'score': 10.67}, {'connected_gene': 'CAMK2N2', 'score': 10.56}, {'connected_gene': 'PSMD2', 'score': 10.4}, {'connected_gene': 'EIF4G1', 'score': 10.27}, {'connected_gene': 'DVL3', 'score': 7.36}]
chr3 GH03I184144 184144488 184146636 0.75 [{'connected_gene': 'ABCF3', 'score': 9.33}, {'connected_gene': 'DVL3', 'score': 4.53}, {'connected_gene': 'VWA5B2', 'score': 4.5}, {'connected_gene': 'RPS3P3', 'score': 0.77}, {'connected_gene': 'EIF2B5', 'score': 0.39}, {'connected_gene': 'ENSG00000272721', 'score': 0.39}]
chr3 GH03I183634 183634908 183638384 2.24 [{'connected_gene': 'KLHL24', 'score': 563.36}, {'connected_gene': 'POLR2H', 'score': 18.5}, {'connected_gene': 'YEATS2', 'score': 16.13}, {'connected_gene': 'DVL3', 'score': 15.91}, {'connected_gene': 'MCCC1-AS1', 'score': 13.64}, {'connected_gene': 'PARL', 'score': 13.49}, {'connected_gene': 'RPS3P3', 'score': 13.09}, {'connected_gene': 'EIF2B5', 'score': 12.81}, {'connected_gene': 'KLHL6', 'score': 11.15}]
chr3 GH03I184149 184149801 184150200 0.43 [{'connected_gene': 'RPS3P3', 'score': 550.77}, {'connected_gene': 'AP2M1', 'score': 11.36}, {'connected_gene': 'CAMK2N2', 'score': 10.78}, {'connected_gene': 'VWA5B2', 'score': 10.45}, {'connected_gene': 'ALG3', 'score': 10.3}, {'connected_gene': 'ECE2', 'score': 10.3}, {'connected_gene': 'EEF1AKMT4', 'score': 10.3}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.3}, {'connected_gene': 'MIR1224', 'score': 10.09}, {'connected_gene': 'PARL', 'score': 9.65}, {'connected_gene': 'RPSAP31', 'score': 9.65}, {'connected_gene': 'DVL3', 'score': 0.44}]
chr3 GH03I185151 185151865 185153908 1.82 [{'connected_gene': 'C3orf70', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 17.41}, {'connected_gene': 'DVL3', 'score': 16.09}, {'connected_gene': 'VPS8', 'score': 14.22}, {'connected_gene': 'POLR2H', 'score': 14.2}, {'connected_gene': 'RPL4P4', 'score': 10.43}, {'connected_gene': 'GC03P185008', 'score': 0.11}, {'connected_gene': 'GC03P185005', 'score': 0.11}, {'connected_gene': 'GC03P185006', 'score': 0.11}, {'connected_gene': 'PIR58156', 'score': 0.11}]
chr3 GH03I184318 184318417 184323688 1.5 [{'connected_gene': 'EIF4G1', 'score': 550.44}, {'connected_gene': 'PSMD2', 'score': 13.18}, {'connected_gene': 'ABCF3', 'score': 7.4}, {'connected_gene': 'DVL3', 'score': 4.26}, {'connected_gene': 'GC03P184326', 'score': 0.77}]
chr3 GH03I184154 184154314 184158479 2.18 [{'connected_gene': 'DVL3', 'score': 569.57}, {'connected_gene': 'EIF2B5', 'score': 22.29}, {'connected_gene': 'RPS3P3', 'score': 12.65}, {'connected_gene': 'POLR2H', 'score': 11.15}, {'connected_gene': 'ECE2', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.63}, {'connected_gene': 'ALG3', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4', 'score': 10.63}, {'connected_gene': 'ABCF3', 'score': 10.59}, {'connected_gene': 'CAMK2N2', 'score': 10.59}, {'connected_gene': 'PSMD2', 'score': 10.5}, {'connected_gene': 'VWA5B2', 'score': 10.44}, {'connected_gene': 'MIR1224', 'score': 10.42}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'HTR3C', 'score': 10.17}, {'connected_gene': 'HTR3E-AS1', 'score': 10.09}, {'connected_gene': 'FAM131A', 'score': 10.06}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'AP2M1', 'score': 0.37}]
chr3 GH03I183544 183544218 183545326 0.97 [{'connected_gene': 'DVL3', 'score': 17.11}, {'connected_gene': 'PARL', 'score': 13.25}, {'connected_gene': 'RPS3P3', 'score': 12.78}, {'connected_gene': 'POLR2H', 'score': 12.37}, {'connected_gene': 'ATP11B', 'score': 11.6}, {'connected_gene': 'KLHL24', 'score': 10.44}, {'connected_gene': 'YEATS2', 'score': 10.11}, {'connected_gene': 'KLHL6-AS1', 'score': 0.77}, {'connected_gene': 'KLHL6', 'score': 0.39}, {'connected_gene': 'ENSG00000271682', 'score': 0.18}]
chr3 GH03I184366 184366002 184367622 0.64 [{'connected_gene': 'DVL3', 'score': 17.16}, {'connected_gene': 'PARL', 'score': 13.24}, {'connected_gene': 'RPS3P3', 'score': 12.83}, {'connected_gene': 'POLR2H', 'score': 12.78}, {'connected_gene': 'FAM131A', 'score': 12.47}, {'connected_gene': 'EIF4G1', 'score': 12.4}, {'connected_gene': 'KLHL24', 'score': 4.56}, {'connected_gene': 'THPO', 'score': 0.39}]
chr3 GH03I184330 184330887 184339921 2.23 [{'connected_gene': 'FAM131A', 'score': 550.77}, {'connected_gene': 'ABCF3', 'score': 10.13}, {'connected_gene': 'PSMD2', 'score': 9.76}, {'connected_gene': 'VWA5B2', 'score': 7.31}, {'connected_gene': 'ECE2', 'score': 5.95}, {'connected_gene': 'DVL3', 'score': 4.9}, {'connected_gene': 'SNORD66', 'score': 0.44}, {'connected_gene': 'EIF4G1', 'score': 0.34}]
chr3 GH03I184171 184171161 184179162 2.44 [{'connected_gene': 'AP2M1', 'score': 555.19}, {'connected_gene': 'VWA5B2', 'score': 20.35}, {'connected_gene': 'ABCF3', 'score': 13.46}, {'connected_gene': 'EIF2B5', 'score': 11.33}, {'connected_gene': 'DVL3', 'score': 10.88}, {'connected_gene': 'ALG3', 'score': 10.54}, {'connected_gene': 'ECE2', 'score': 10.54}, {'connected_gene': 'EEF1AKMT4', 'score': 10.54}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.54}, {'connected_gene': 'MIR1224', 'score': 10.39}, {'connected_gene': 'CAMK2N2', 'score': 10.37}]
chr3 GH03I184247 184247994 184250656 2.09 [{'connected_gene': 'ALG3', 'score': 550.77}, {'connected_gene': 'ECE2', 'score': 550.77}, {'connected_gene': 'EEF1AKMT4', 'score': 550.77}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 550.77}, {'connected_gene': 'POLR2H', 'score': 19.63}, {'connected_gene': 'RPS3P3', 'score': 14.06}, {'connected_gene': 'PARL', 'score': 13.52}, {'connected_gene': 'VWA5B2', 'score': 13.46}, {'connected_gene': 'DVL3', 'score': 12.19}, {'connected_gene': 'EIF2B5', 'score': 10.25}, {'connected_gene': 'ABCF3', 'score': 10.23}, {'connected_gene': 'MIR1224', 'score': 0.44}]

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