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
ENST00000311412 [[84213613, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84256035]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
ENST00000405413 [[84213613, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966], [84256200, 84256306]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
ENST00000507150 [[84216472, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966], [84256200, 84256306]] [[84231223, 84231231], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
ENST00000509906 [[84216472, 84216656], [84222112, 84222259], [84223302, 84223421], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966], [84256200, 84256306]] [[84223369, 84223421], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
ENST00000508891 [[84216472, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966], [84256200, 84256306]] [[84231223, 84231231], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
ENST00000512196 [[84216472, 84216656], [84222112, 84222259], [84223302, 84223421], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966], [84256200, 84256306]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
ENST00000513463 [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
NM_001199830 [[84213613, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
NM_001098540 [[84213613, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84256034]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
NM_006665 [[84213613, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966], [84256200, 84256306]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84227355, 84227470], [84229997, 84230104], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
NM_001166498 [[84213613, 84216656], [84222112, 84222259], [84223302, 84223421], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255966], [84256200, 84256306]] [[84216496, 84216656], [84222112, 84222259], [84223302, 84223421], [84230554, 84230648], [84231183, 84231231], [84231874, 84232043], [84234266, 84234440], [84240496, 84240622], [84243371, 84243517], [84255708, 84255935]]
Promoter
Chrom Start End Description
chr4 84255980 84256009 CAGE_peak_1_at_HPSE_5end
chr4 84256024 84256036 CAGE_peak_2_at_HPSE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I083629 83629524 83632792 1.41 [{'connected_gene': 'GPAT3', 'score': 18.92}, {'connected_gene': 'ABRAXAS1', 'score': 11.83}, {'connected_gene': 'THAP9-AS1', 'score': 4.21}, {'connected_gene': 'HPSE', 'score': 1.88}, {'connected_gene': 'GC04M083639', 'score': 0.44}, {'connected_gene': 'ENSG00000201633', 'score': 0.44}]
chr4 GH04I083556 83556002 83557138 0.99 [{'connected_gene': 'GPAT3', 'score': 17.3}, {'connected_gene': 'HPSE', 'score': 6.73}, {'connected_gene': 'COQ2', 'score': 1.93}, {'connected_gene': 'HELQ', 'score': 1.75}, {'connected_gene': 'PLAC8', 'score': 1.39}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083569 83569372 83571000 1 [{'connected_gene': 'GPAT3', 'score': 17.46}, {'connected_gene': 'HPSE', 'score': 9.08}, {'connected_gene': 'COQ2', 'score': 2.9}, {'connected_gene': 'HELQ', 'score': 2.13}, {'connected_gene': 'GC04M083639', 'score': 0.2}, {'connected_gene': 'ENSG00000201633', 'score': 0.2}]
chr4 GH04I083547 83547602 83549430 1.64 [{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 9.16}, {'connected_gene': 'GPAT3', 'score': 6.51}, {'connected_gene': 'MRPS18C', 'score': 5.06}, {'connected_gene': 'PLAC8', 'score': 3.8}, {'connected_gene': 'COQ2', 'score': 2.17}, {'connected_gene': 'HELQ', 'score': 1.94}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4 GH04I083551 83551865 83553737 1.46 [{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 8.45}, {'connected_gene': 'MRPS18C', 'score': 5.48}, {'connected_gene': 'PLAC8', 'score': 2.74}, {'connected_gene': 'COQ2', 'score': 2.18}, {'connected_gene': 'HELQ', 'score': 1.9}, {'connected_gene': 'GPAT3', 'score': 0.37}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083356 83356535 83359231 1.12 [{'connected_gene': 'ENOPH1', 'score': 4.22}, {'connected_gene': 'ENSG00000274154', 'score': 0.39}, {'connected_gene': 'HPSE', 'score': 0.34}]
chr4 GH04I083170 83170734 83172100 1.41 [{'connected_gene': 'PLAC8', 'score': 34.18}, {'connected_gene': 'THAP9', 'score': 9.91}, {'connected_gene': 'MRPS18C', 'score': 7.14}, {'connected_gene': 'HPSE', 'score': 4.03}, {'connected_gene': 'COQ2', 'score': 2.48}, {'connected_gene': 'GC04M083225', 'score': 0.23}]
chr4 GH04I083190 83190437 83190825 0.27 [{'connected_gene': 'PLAC8', 'score': 15.74}, {'connected_gene': 'THAP9', 'score': 2.37}, {'connected_gene': 'COQ2', 'score': 1.52}, {'connected_gene': 'HPSE', 'score': 1.35}, {'connected_gene': 'GC04M083225', 'score': 0.28}]
chr4 GH04I083180 83180146 83181094 1.36 [{'connected_gene': 'PLAC8', 'score': 29.71}, {'connected_gene': 'THAP9', 'score': 12.12}, {'connected_gene': 'HPSE', 'score': 4.84}, {'connected_gene': 'COQ2', 'score': 2.79}, {'connected_gene': 'LIN54', 'score': 1.19}, {'connected_gene': 'GC04M083225', 'score': 0.25}]
chr4 GH04I083152 83152388 83153858 1.07 [{'connected_gene': 'PLAC8', 'score': 19.65}, {'connected_gene': 'THAP9', 'score': 18.68}, {'connected_gene': 'HPSE', 'score': 7.07}, {'connected_gene': 'COQ2', 'score': 2.91}, {'connected_gene': 'LIN54', 'score': 1.21}, {'connected_gene': 'GC04M083225', 'score': 0.19}]
chr4 GH04I083149 83149154 83151676 0.96 [{'connected_gene': 'PLAC8', 'score': 23.39}, {'connected_gene': 'THAP9', 'score': 18.83}, {'connected_gene': 'HPSE', 'score': 6.18}, {'connected_gene': 'COQ2', 'score': 3.36}, {'connected_gene': 'LIN54', 'score': 1.32}, {'connected_gene': 'GC04M083225', 'score': 0.18}]
chr4 GH04I083197 83197002 83199200 1.31 [{'connected_gene': 'PLAC8', 'score': 41.14}, {'connected_gene': 'THAP9', 'score': 4.52}, {'connected_gene': 'HPSE', 'score': 2.79}, {'connected_gene': 'COQ2', 'score': 2.05}, {'connected_gene': 'GC04M083225', 'score': 0.31}]
chr4 GH04I083151 83151749 83151955 0.51 [{'connected_gene': 'PLAC8', 'score': 17.68}, {'connected_gene': 'THAP9', 'score': 10.08}, {'connected_gene': 'HPSE', 'score': 4.42}, {'connected_gene': 'COQ2', 'score': 2.28}, {'connected_gene': 'GC04M083225', 'score': 0.19}]
chr4 GH04I083215 83215817 83220520 1.55 [{'connected_gene': 'PLAC8', 'score': 28.8}, {'connected_gene': 'LOC391674', 'score': 16.57}, {'connected_gene': 'THAP9', 'score': 6.34}, {'connected_gene': 'HPSE', 'score': 4.16}, {'connected_gene': 'COQ2', 'score': 3.26}, {'connected_gene': 'LIN54', 'score': 2.08}, {'connected_gene': 'HELQ', 'score': 1.66}, {'connected_gene': 'GC04M083225', 'score': 0.44}]
chr4 GH04I083107 83107231 83116565 2.48 [{'connected_gene': 'PLAC8', 'score': 575.08}, {'connected_gene': 'HELQ', 'score': 3.53}, {'connected_gene': 'THAP9', 'score': 2.81}, {'connected_gene': 'LIN54', 'score': 2.17}, {'connected_gene': 'COQ2', 'score': 2.11}, {'connected_gene': 'HPSE', 'score': 1.47}, {'connected_gene': 'GC04P083063', 'score': 0.25}]
chr4 GH04I083454 83454253 83458036 2.11 [{'connected_gene': 'HELQ', 'score': 586.08}, {'connected_gene': 'MRPS18C', 'score': 562.51}, {'connected_gene': 'ABRAXAS1', 'score': 19.21}, {'connected_gene': 'SEC31A', 'score': 18.7}, {'connected_gene': 'HPSE', 'score': 10.42}, {'connected_gene': 'GPAT3', 'score': 10.11}, {'connected_gene': 'SLC25A14P1', 'score': 0.34}]
chr4 GH04I083315 83315919 83317741 0.84 [{'connected_gene': 'HPSE', 'score': 53.23}, {'connected_gene': 'THAP9', 'score': 21.43}, {'connected_gene': 'PLAC8', 'score': 6.84}, {'connected_gene': 'COQ2', 'score': 5.83}, {'connected_gene': 'HELQ', 'score': 2.03}, {'connected_gene': 'LIN54', 'score': 1.8}, {'connected_gene': 'LOC105377313', 'score': 0.37}]
chr4 GH04I083320 83320002 83321399 0.89 [{'connected_gene': 'HPSE', 'score': 53.9}, {'connected_gene': 'THAP9', 'score': 17.67}, {'connected_gene': 'PLAC8', 'score': 11.46}, {'connected_gene': 'COQ2', 'score': 5.94}, {'connected_gene': 'HELQ', 'score': 2.15}, {'connected_gene': 'LIN54', 'score': 1.97}, {'connected_gene': 'LOC105377313', 'score': 0.34}]
chr4 GH04I083316 83315522 83315612 0.23 [{'connected_gene': 'HPSE', 'score': 12.61}, {'connected_gene': 'THAP9', 'score': 11.41}, {'connected_gene': 'COQ2', 'score': 3.74}, {'connected_gene': 'PLAC8', 'score': 1.94}, {'connected_gene': 'HELQ', 'score': 1.84}, {'connected_gene': 'LOC105377313', 'score': 0.37}]
chr4 GH04I083334 83334261 83335468 1.91 [{'connected_gene': 'HPSE', 'score': 555.94}, {'connected_gene': 'HNRNPD', 'score': 22.28}, {'connected_gene': 'HELQ', 'score': 17.24}, {'connected_gene': 'SEC31A', 'score': 16.8}, {'connected_gene': 'ABRAXAS1', 'score': 11.57}, {'connected_gene': 'LOC105377313', 'score': 0.28}]
chr4 GH04I083318 83318728 83318877 0.31 [{'connected_gene': 'HPSE', 'score': 0.37}, {'connected_gene': 'LOC105377313', 'score': 0.34}]
chr4 GH04I083321 83321602 83323200 0.66 [{'connected_gene': 'HPSE', 'score': 0.39}, {'connected_gene': 'LOC105377313', 'score': 0.34}]
chr4 GH04I083329 83329702 83330400 0.38 [{'connected_gene': 'HPSE', 'score': 0.44}, {'connected_gene': 'LOC105377313', 'score': 0.29}]
chr4 GH04I083350 83350201 83350600 0.38 [{'connected_gene': 'HPSE', 'score': 0.37}, {'connected_gene': 'ENSG00000274154', 'score': 0.37}]
chr4 GH04I083341 83341068 83341217 0.31 [{'connected_gene': 'HPSE', 'score': 0.44}, {'connected_gene': 'ENSG00000274154', 'score': 0.31}]
chr4 GH04I083022 83022401 83023401 0.45 [{'connected_gene': 'THAP9-AS1', 'score': 46.31}, {'connected_gene': 'THAP9', 'score': 11.9}, {'connected_gene': 'HPSE', 'score': 4.63}, {'connected_gene': 'PLAC8', 'score': 2.97}, {'connected_gene': 'COQ2', 'score': 1.72}, {'connected_gene': 'HELQ', 'score': 1.34}, {'connected_gene': 'LIN54', 'score': 0.44}, {'connected_gene': 'COPS4', 'score': 0.39}]
chr4 GH04I083369 83369832 83370600 0.72 [{'connected_gene': 'ENSG00000274154', 'score': 550.77}, {'connected_gene': 'THAP9', 'score': 11.19}, {'connected_gene': 'MRPS18C', 'score': 6.96}, {'connected_gene': 'HPSE', 'score': 5.81}, {'connected_gene': 'PLAC8', 'score': 5.79}, {'connected_gene': 'COQ2', 'score': 2.7}, {'connected_gene': 'LOC100287427', 'score': 0.44}]
chr4 GH04I083370 83370690 83370761 0.22 [{'connected_gene': 'ENSG00000274154', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 9.69}, {'connected_gene': 'THAP9', 'score': 9.02}, {'connected_gene': 'HPSE', 'score': 4.81}, {'connected_gene': 'COQ2', 'score': 2.89}, {'connected_gene': 'LOC100287427', 'score': 0.44}]
chr4 GH04I083230 83230740 83232877 1.4 [{'connected_gene': 'GC04M083232', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 30.42}, {'connected_gene': 'LOC391674', 'score': 19.27}, {'connected_gene': 'THAP9', 'score': 4.95}, {'connected_gene': 'HPSE', 'score': 2.36}, {'connected_gene': 'COQ2', 'score': 2.01}, {'connected_gene': 'GC04M083225', 'score': 0.44}]
chr4 GH04I083361 83361214 83362628 0.85 [{'connected_gene': 'ENSG00000274154', 'score': 0.44}, {'connected_gene': 'HPSE', 'score': 0.31}]

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