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
ENST00000409262 [[74273449, 74275538], [74300675, 74300766], [74307624, 74307718], [74314956, 74315165], [74317023, 74317174], [74320028, 74320118], [74320655, 74320793], [74326402, 74326739], [74327519, 74335303]] [[74273449, 74275538], [74300675, 74300766], [74307624, 74307718], [74314956, 74315165], [74317023, 74317174], [74320028, 74320118], [74320655, 74320793], [74326402, 74326739], [74327519, 74329303]]
ENST00000305799 [[74229839, 74229928], [74230236, 74230293], [74273404, 74275538]] [[74229904, 74229928], [74230236, 74230293], [74273404, 74275538]]
ENST00000475405 [[74274286, 74275538], [74300675, 74301031]] None
NM_001287491 [[74213530, 74213833], [74230236, 74230293], [74273404, 74275538], [74300675, 74300766], [74307624, 74307718], [74314956, 74315165], [74317023, 74317174], [74320028, 74320118], [74320655, 74320793], [74326402, 74326739], [74327519, 74335303]] [[74213530, 74213833], [74230236, 74230293], [74273404, 74275538], [74300675, 74300766], [74307624, 74307718], [74314956, 74315165], [74317023, 74317174], [74320028, 74320118], [74320655, 74320793], [74326402, 74326739], [74327519, 74329303]]
Promoter
Chrom Start End Description
chr2 74229812 74229867 CAGE_peak_1_at_TET3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I074077 74077769 74078277 0.85 [{'connected_gene': 'DUSP11', 'score': 16.77}, {'connected_gene': 'PCGF1', 'score': 15.82}, {'connected_gene': 'CCDC142', 'score': 15.07}, {'connected_gene': 'ENSG00000273245', 'score': 14.66}, {'connected_gene': 'TTC31', 'score': 12.8}, {'connected_gene': 'MOGS', 'score': 11.78}, {'connected_gene': 'AUP1', 'score': 11.23}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MRPL53', 'score': 10.5}, {'connected_gene': 'INO80B', 'score': 10.41}, {'connected_gene': 'DGUOK-AS1', 'score': 5.44}, {'connected_gene': 'FNBP1P1', 'score': 0.26}, {'connected_gene': 'ENSG00000279181', 'score': 0.18}, {'connected_gene': 'TET3', 'score': 0.16}]
chr2 GH02I073759 73759269 73760094 0.46 [{'connected_gene': 'DUSP11', 'score': 11.79}, {'connected_gene': 'C2orf78', 'score': 11.79}, {'connected_gene': 'TPRKB', 'score': 11.18}, {'connected_gene': 'STAMBP', 'score': 10.66}, {'connected_gene': 'TET3', 'score': 10.05}, {'connected_gene': 'BOLA3', 'score': 9.76}, {'connected_gene': 'BOLA3-AS1', 'score': 9.76}, {'connected_gene': 'ENSG00000280037', 'score': 0.77}, {'connected_gene': 'ENSG00000273245', 'score': 0.44}]
chr2 GH02I073839 73839000 73839401 0.58 [{'connected_gene': 'ACTG2', 'score': 11.09}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'TPRKB', 'score': 5.12}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.39}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073841 73841488 73843482 0.84 [{'connected_gene': 'ACTG2', 'score': 11.11}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'STAMBP', 'score': 8.26}, {'connected_gene': 'ALMS1P1', 'score': 5.92}, {'connected_gene': 'LOC105374807', 'score': 0.39}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073838 73838001 73838800 0.69 [{'connected_gene': 'ACTG2', 'score': 11.09}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.44}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073931 73931549 73932992 0.83 [{'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'TET3', 'score': 10.48}, {'connected_gene': 'BOLA3', 'score': 9.77}, {'connected_gene': 'BOLA3-AS1', 'score': 9.77}, {'connected_gene': 'LOC107985899', 'score': 9.76}, {'connected_gene': 'DGUOK', 'score': 0.44}, {'connected_gene': 'GC02M073969', 'score': 0.28}]
chr2 GH02I073892 73892168 73895330 1.69 [{'connected_gene': 'ACTG2', 'score': 562.36}, {'connected_gene': 'STAMBP', 'score': 15.71}, {'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'HTRA2', 'score': 5.62}, {'connected_gene': 'MOB1A', 'score': 4.9}, {'connected_gene': 'ALMS1', 'score': 4.55}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I074070 74070293 74070540 0.52 [{'connected_gene': 'MOB1A', 'score': 1.94}, {'connected_gene': 'FNBP1P1', 'score': 0.23}, {'connected_gene': 'ENSG00000279181', 'score': 0.19}, {'connected_gene': 'TET3', 'score': 0.17}]
chr2 GH02I074071 74071143 74071758 0.3 [{'connected_gene': 'MOB1A', 'score': 2.34}, {'connected_gene': 'FNBP1P1', 'score': 0.25}, {'connected_gene': 'ENSG00000279181', 'score': 0.19}, {'connected_gene': 'TET3', 'score': 0.17}]
chr2 GH02I074042 74042697 74044064 1.21 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.06}, {'connected_gene': 'BOLA3-AS1', 'score': 10.06}, {'connected_gene': 'LOC107985899', 'score': 9.96}, {'connected_gene': 'MTHFD2', 'score': 9.9}, {'connected_gene': 'DGUOK-AS1', 'score': 7.43}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074044 74044228 74046483 0.63 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.06}, {'connected_gene': 'BOLA3-AS1', 'score': 10.06}, {'connected_gene': 'LOC107985899', 'score': 9.96}, {'connected_gene': 'MTHFD2', 'score': 9.91}, {'connected_gene': 'DGUOK-AS1', 'score': 9.07}, {'connected_gene': 'FNBP1P1', 'score': 4.49}, {'connected_gene': 'ENSG00000279181', 'score': 0.25}]
chr2 GH02I074048 74048155 74049960 0.91 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'LOC107985899', 'score': 9.97}, {'connected_gene': 'MTHFD2', 'score': 9.91}, {'connected_gene': 'ENSG00000279181', 'score': 0.23}, {'connected_gene': 'FNBP1P1', 'score': 0.19}]
chr2 GH02I073934 73934996 73936946 0.2 [{'connected_gene': 'TET3', 'score': 11.47}, {'connected_gene': 'ACTG2', 'score': 10.66}, {'connected_gene': 'BOLA3', 'score': 10.05}, {'connected_gene': 'BOLA3-AS1', 'score': 10.05}, {'connected_gene': 'STAMBP', 'score': 10.04}, {'connected_gene': 'DGUOK-AS1', 'score': 4.34}, {'connected_gene': 'DGUOK', 'score': 0.44}, {'connected_gene': 'GC02M073969', 'score': 0.29}]
chr2 GH02I074040 74040601 74041572 0.66 [{'connected_gene': 'TET3', 'score': 12.72}, {'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'MTHFD2', 'score': 9.9}, {'connected_gene': 'DGUOK-AS1', 'score': 4.82}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074039 74039801 74040000 0.72 [{'connected_gene': 'TET3', 'score': 12.72}, {'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074054 74054094 74054243 0.72 [{'connected_gene': 'TET3', 'score': 11.77}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'ACTG2', 'score': 9.72}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.2}]
chr2 GH02I074053 74053266 74054027 0.77 [{'connected_gene': 'TET3', 'score': 11.77}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'ACTG2', 'score': 9.72}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.2}]
chr2 GH02I074055 74055644 74057465 0.31 [{'connected_gene': 'TET3', 'score': 11.92}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'DGUOK', 'score': 10.26}, {'connected_gene': 'ACTG2', 'score': 10.01}, {'connected_gene': 'RTKN', 'score': 9.02}, {'connected_gene': 'DGUOK-AS1', 'score': 7.24}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.21}]
chr2 GH02I074091 74091548 74092893 0.2 [{'connected_gene': 'TET3', 'score': 11.61}, {'connected_gene': 'BOLA3', 'score': 11.26}, {'connected_gene': 'BOLA3-AS1', 'score': 11.26}, {'connected_gene': 'STAMBP', 'score': 11.07}, {'connected_gene': 'LOC107985899', 'score': 10.93}, {'connected_gene': 'ACTG2', 'score': 10.21}, {'connected_gene': 'DGUOK-AS1', 'score': 6.53}, {'connected_gene': 'FNBP1P1', 'score': 0.31}, {'connected_gene': 'ENSG00000279181', 'score': 0.16}]
chr2 GH02I074035 74035801 74039239 1.33 [{'connected_gene': 'TET3', 'score': 12.73}, {'connected_gene': 'STAMBP', 'score': 11.06}, {'connected_gene': 'BOLA3', 'score': 10.73}, {'connected_gene': 'BOLA3-AS1', 'score': 10.73}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'DGUOK-AS1', 'score': 5.34}, {'connected_gene': 'ENSG00000279181', 'score': 0.28}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074030 74030501 74034254 1.27 [{'connected_gene': 'TET3', 'score': 12.22}, {'connected_gene': 'FNBP1P1', 'score': 7.9}, {'connected_gene': 'DGUOK-AS1', 'score': 7.36}, {'connected_gene': 'ENSG00000279181', 'score': 0.29}]
chr2 GH02I073895 73895934 73897655 1.05 [{'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'STAMBP', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'ALMS1-IT1', 'score': 4.64}, {'connected_gene': 'SMYD5', 'score': 4.28}, {'connected_gene': 'ACTG2', 'score': 0.77}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073999 73999494 74005181 1.62 [{'connected_gene': 'LOC107985899', 'score': 5.3}, {'connected_gene': 'ENSG00000279181', 'score': 0.77}, {'connected_gene': 'TET3', 'score': 0.37}, {'connected_gene': 'FNBP1P1', 'score': 0.13}]
chr2 GH02I073995 73995484 73996619 0.67 [{'connected_gene': 'LOC107985899', 'score': 5.11}, {'connected_gene': 'ENSG00000279181', 'score': 0.77}, {'connected_gene': 'PIR31933', 'score': 0.44}, {'connected_gene': 'TET3', 'score': 0.39}]
chr2 GH02I073993 73993801 73994000 0.63 [{'connected_gene': 'STAMBP', 'score': 10.61}, {'connected_gene': 'ACTG2', 'score': 10.31}, {'connected_gene': 'BOLA3', 'score': 10.21}, {'connected_gene': 'BOLA3-AS1', 'score': 10.21}, {'connected_gene': 'LOC107985899', 'score': 10.06}, {'connected_gene': 'ENSG00000279181', 'score': 0.77}, {'connected_gene': 'PIR31933', 'score': 0.44}, {'connected_gene': 'TET3', 'score': 0.39}]
chr2 GH02I073991 73991166 73992497 0.43 [{'connected_gene': 'STAMBP', 'score': 10.61}, {'connected_gene': 'ACTG2', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.21}, {'connected_gene': 'BOLA3-AS1', 'score': 10.21}, {'connected_gene': 'LOC107985899', 'score': 10.06}, {'connected_gene': 'PIR31933', 'score': 0.77}, {'connected_gene': 'ENSG00000279181', 'score': 0.44}, {'connected_gene': 'TET3', 'score': 0.44}]
chr2 GH02I073978 73978797 73987145 2.71 [{'connected_gene': 'DGUOK-AS1', 'score': 560.36}, {'connected_gene': 'TET3', 'score': 552.28}, {'connected_gene': 'LOC107985899', 'score': 6.95}, {'connected_gene': 'MOB1A', 'score': 2.02}, {'connected_gene': 'SLC4A5', 'score': 1.47}, {'connected_gene': 'ENSG00000235499', 'score': 0.77}]
chr2 GH02I074020 74020535 74021898 1.04 [{'connected_gene': 'DGUOK-AS1', 'score': 7.1}, {'connected_gene': 'ENSG00000279181', 'score': 0.34}, {'connected_gene': 'TET3', 'score': 0.28}, {'connected_gene': 'FNBP1P1', 'score': 0.15}]
chr2 GH02I074011 74011163 74011813 0.38 [{'connected_gene': 'DGUOK-AS1', 'score': 8.14}, {'connected_gene': 'LOC107985899', 'score': 5.69}, {'connected_gene': 'ENSG00000279181', 'score': 0.39}, {'connected_gene': 'TET3', 'score': 0.31}, {'connected_gene': 'FNBP1P1', 'score': 0.14}]
chr2 GH02I074008 74008046 74010946 1.22 [{'connected_gene': 'DGUOK-AS1', 'score': 9.15}, {'connected_gene': 'LOC107985899', 'score': 6.78}, {'connected_gene': 'FNBP1P1', 'score': 5.62}, {'connected_gene': 'ENSG00000279181', 'score': 0.39}, {'connected_gene': 'TET3', 'score': 0.31}]
chr2 GH02I074079 74079598 74081257 0.96 [{'connected_gene': 'DGUOK-AS1', 'score': 5.92}, {'connected_gene': 'FNBP1P1', 'score': 5.36}, {'connected_gene': 'ENSG00000279181', 'score': 0.18}, {'connected_gene': 'TET3', 'score': 0.15}]
chr2 GH02I074072 74072565 74073000 0.52 [{'connected_gene': 'FNBP1P1', 'score': 0.25}, {'connected_gene': 'ENSG00000279181', 'score': 0.19}, {'connected_gene': 'TET3', 'score': 0.17}]
chr2 GH02I074025 74025457 74027723 1.08 [{'connected_gene': 'FNBP1P1', 'score': 7.95}, {'connected_gene': 'DGUOK-AS1', 'score': 7.87}, {'connected_gene': 'ENSG00000279181', 'score': 0.31}, {'connected_gene': 'TET3', 'score': 0.26}]
chr2 GH02I074181 74180923 74182999 1.35 [{'connected_gene': 'BOLA3-AS1', 'score': 24.45}, {'connected_gene': 'BOLA3', 'score': 11.02}, {'connected_gene': 'LOC107985899', 'score': 10.38}, {'connected_gene': 'MOB1A', 'score': 7.9}, {'connected_gene': 'TET3', 'score': 2.09}, {'connected_gene': 'NAT8B', 'score': 1.62}, {'connected_gene': 'ENSG00000279201', 'score': 0.44}]
chr2 GH02I074184 74184002 74188837 1.41 [{'connected_gene': 'BOLA3-AS1', 'score': 21.7}, {'connected_gene': 'LOC107985899', 'score': 20.9}, {'connected_gene': 'BOLA3', 'score': 10.79}, {'connected_gene': 'FNBP1P1', 'score': 9.41}, {'connected_gene': 'MOB1A', 'score': 6.55}, {'connected_gene': 'MTHFD2', 'score': 2.31}, {'connected_gene': 'TET3', 'score': 2.2}, {'connected_gene': 'LBX2', 'score': 1.16}, {'connected_gene': 'ENSG00000279201', 'score': 0.77}]
chr2 GH02I073877 73877201 73878000 0.84 [{'connected_gene': 'LOC100420774', 'score': 550.77}, {'connected_gene': 'STAMBP', 'score': 16.72}, {'connected_gene': 'DGUOK', 'score': 11.25}, {'connected_gene': 'TET3', 'score': 10.72}, {'connected_gene': 'BOLA3', 'score': 9.87}, {'connected_gene': 'BOLA3-AS1', 'score': 9.87}, {'connected_gene': 'ACTG2', 'score': 0.39}]
chr2 GH02I073987 73987534 73987723 0.87 [{'connected_gene': 'PIR31933', 'score': 550.77}, {'connected_gene': 'TTC31', 'score': 20.53}, {'connected_gene': 'AUP1', 'score': 17.0}, {'connected_gene': 'MOGS', 'score': 14.37}, {'connected_gene': 'CCDC142', 'score': 14.04}, {'connected_gene': 'ENSG00000273245', 'score': 13.75}, {'connected_gene': 'DUSP11', 'score': 13.59}, {'connected_gene': 'PCGF1', 'score': 13.4}, {'connected_gene': 'MOB1A', 'score': 10.11}, {'connected_gene': 'INO80B', 'score': 9.71}, {'connected_gene': 'TET3', 'score': 0.77}, {'connected_gene': 'ENSG00000279181', 'score': 0.39}]
chr2 GH02I074023 74023729 74025113 0.38 [{'connected_gene': 'ENSG00000279181', 'score': 0.31}, {'connected_gene': 'TET3', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.15}]

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