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
ENST00000564365 [[88922627, 88922654], [88925026, 88925197], [88925752, 88925851], [88925980, 88926158], [88926300, 88926380], [88927318, 88927823]] [[88926107, 88926158], [88926300, 88926380], [88927318, 88927367]]
ENST00000567895 [[88923493, 88923591], [88925049, 88925199], [88926070, 88926158], [88926300, 88926380], [88927321, 88927759]] [[88925083, 88925199], [88926070, 88926158], [88926300, 88926380], [88927321, 88927367]]
ENST00000301021 [[88923493, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927318, 88929094]] [[88923558, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927318, 88927367]]
ENST00000564547 [[88923505, 88923591], [88925026, 88925920]] None
ENST00000562792 [[88923534, 88923859], [88925049, 88925199], [88926070, 88926137]] [[88923558, 88923672]]
ENST00000565504 [[88923534, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88929084]] [[88923558, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926732]]
ENST00000565205 [[88923538, 88923591], [88925026, 88925197], [88925752, 88926158], [88926300, 88926380], [88927321, 88927695]] [[88923558, 88923591], [88925026, 88925197], [88925752, 88925776]]
ENST00000567312 [[88923542, 88923591], [88925026, 88925197], [88926300, 88926380], [88927321, 88927520]] [[88923558, 88923591], [88925026, 88925197], [88926300, 88926380], [88927321, 88927367]]
ENST00000568583 [[88923548, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927300, 88927717]] [[88923558, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927300, 88927367]]
ENST00000564404 [[88923551, 88923591], [88925026, 88925197], [88925752, 88926158], [88926300, 88926380], [88927300, 88927518]] [[88923558, 88923591], [88925026, 88925197], [88925752, 88925776]]
ENST00000561840 [[88923575, 88923591], [88925049, 88925197], [88925980, 88926158], [88926300, 88926380], [88927321, 88927457]] [[88925111, 88925197], [88925980, 88926158], [88926300, 88926380], [88927321, 88927367]]
ENST00000565309 [[88925024, 88925199], [88926070, 88926594]] None
ENST00000562125 [[88925708, 88926158], [88926300, 88926380], [88927321, 88927513]] None
ENST00000563514 [[88926178, 88926380], [88927321, 88927538]] None
NR_134671 [[88922627, 88922654], [88925026, 88925197], [88925752, 88925851], [88925980, 88926158], [88926300, 88926380], [88927318, 88929094]] None
NM_001318526 [[88923493, 88923591], [88925049, 88925197], [88925980, 88926158], [88926300, 88926380], [88927321, 88929094]] [[88925111, 88925197], [88925980, 88926158], [88926300, 88926380], [88927321, 88927367]]
NM_001318530 [[88923493, 88923591], [88925049, 88925199], [88926070, 88926158], [88926300, 88926380], [88927321, 88929094]] [[88925083, 88925199], [88926070, 88926158], [88926300, 88926380], [88927321, 88927367]]
NM_001318528 [[88923493, 88923591], [88925049, 88925199], [88926070, 88926158], [88926300, 88926380], [88927318, 88929094]] [[88925083, 88925199], [88926070, 88926158], [88926300, 88926380], [88927318, 88927367]]
NR_134670 [[88923493, 88923591], [88925026, 88925197], [88925752, 88925851], [88925980, 88926158], [88926300, 88926380], [88927321, 88929094]] None
NM_001318532 [[88923493, 88923591], [88925026, 88925197], [88925752, 88926158], [88926300, 88926380], [88927321, 88929094]] [[88925957, 88926158], [88926300, 88926380], [88927321, 88927367]]
NM_001318529 [[88923493, 88923591], [88925026, 88925197], [88925752, 88926158], [88926300, 88926380], [88927318, 88929094]] [[88925957, 88926158], [88926300, 88926380], [88927318, 88927367]]
NM_001318527 [[88923493, 88923591], [88925026, 88925197], [88925752, 88926158], [88926300, 88926380], [88927300, 88929094]] [[88925957, 88926158], [88926300, 88926380], [88927300, 88927367]]
NM_001318525 [[88923493, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927321, 88929094]] [[88923558, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927321, 88927367]]
NM_016209 [[88923493, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927318, 88929094]] [[88923558, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927318, 88927367]]
NM_001318524 [[88923493, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927300, 88929094]] [[88923558, 88923591], [88925026, 88925199], [88926070, 88926158], [88926300, 88926380], [88927300, 88927367]]
Promoter
Chrom Start End Description
chr16 88923519 88923561 CAGE_peak_1_at_TRAPPC2L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I088779 88779426 88786087 2.56 [{'connected_gene': 'PIEZO1', 'score': 556.55}, {'connected_gene': 'APRT', 'score': 22.12}, {'connected_gene': 'ANKRD11', 'score': 21.7}, {'connected_gene': 'SNORD68', 'score': 12.56}, {'connected_gene': 'CDT1', 'score': 12.18}, {'connected_gene': 'GALNS', 'score': 11.31}, {'connected_gene': 'TRAPPC2L', 'score': 11.31}, {'connected_gene': 'ENSG00000259877', 'score': 11.3}, {'connected_gene': 'RPL13', 'score': 11.05}, {'connected_gene': 'CTU2', 'score': 10.89}, {'connected_gene': 'ZC3H18', 'score': 10.53}, {'connected_gene': 'ACSF3', 'score': 10.37}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'BANP', 'score': 9.84}, {'connected_gene': 'LINC00304', 'score': 9.73}, {'connected_gene': 'RNF166', 'score': 8.36}, {'connected_gene': 'ENSG00000260121', 'score': 6.84}, {'connected_gene': 'CYBA', 'score': 6.83}, {'connected_gene': 'CDK10', 'score': 6.78}, {'connected_gene': 'LOC100129697', 'score': 4.93}, {'connected_gene': 'SNAI3', 'score': 1.51}, {'connected_gene': 'LOC339059', 'score': 0.28}]
chr16 GH16I087864 87864973 87873764 2.59 [{'connected_gene': 'SLC7A5', 'score': 550.77}, {'connected_gene': 'ZC3H18', 'score': 34.93}, {'connected_gene': 'BANP', 'score': 23.48}, {'connected_gene': 'KLHDC4', 'score': 21.68}, {'connected_gene': 'ZCCHC14', 'score': 14.83}, {'connected_gene': 'CTU2', 'score': 10.73}, {'connected_gene': 'TRAPPC2L', 'score': 10.13}, {'connected_gene': 'CA5A', 'score': 8.33}, {'connected_gene': 'MAP1LC3B', 'score': 1.77}, {'connected_gene': 'FBXO31', 'score': 1.41}, {'connected_gene': 'PIR45032', 'score': 0.44}]
chr16 GH16I088886 88886288 88888400 0.97 [{'connected_gene': 'TRAPPC2L', 'score': 13.23}, {'connected_gene': 'GALNS', 'score': 13.23}, {'connected_gene': 'LOC100129697', 'score': 12.17}, {'connected_gene': 'CBFA2T3', 'score': 12.1}, {'connected_gene': 'RNF166', 'score': 5.94}, {'connected_gene': 'LOC101927793', 'score': 0.44}, {'connected_gene': 'LOC102724632', 'score': 0.37}]
chr16 GH16I088882 88882767 88884781 0.64 [{'connected_gene': 'TRAPPC2L', 'score': 13.25}, {'connected_gene': 'GALNS', 'score': 13.25}, {'connected_gene': 'LOC100129697', 'score': 12.16}, {'connected_gene': 'CBFA2T3', 'score': 12.1}, {'connected_gene': 'LOC101927793', 'score': 6.51}, {'connected_gene': 'LOC102724632', 'score': 0.37}]
chr16 GH16I088917 88917434 88918896 0.43 [{'connected_gene': 'PABPN1L', 'score': 12.87}, {'connected_gene': 'TRAPPC2L', 'score': 12.32}, {'connected_gene': 'GALNS', 'score': 12.32}, {'connected_gene': 'LOC105371409', 'score': 0.44}, {'connected_gene': 'LOC102724632', 'score': 0.39}, {'connected_gene': 'CBFA2T3', 'score': 0.22}]
chr16 GH16I088853 88853249 88853636 0.38 [{'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'RNF166', 'score': 1.84}, {'connected_gene': 'CBFA2T3', 'score': 1.59}, {'connected_gene': 'SNAI3', 'score': 1.24}, {'connected_gene': 'GALNS', 'score': 0.77}, {'connected_gene': 'TRAPPC2L', 'score': 0.77}, {'connected_gene': 'PIR42461', 'score': 0.31}]
chr16 GH16I088809 88809068 88813486 2.31 [{'connected_gene': 'APRT', 'score': 561.76}, {'connected_gene': 'ENSG00000259877', 'score': 52.86}, {'connected_gene': 'SNORD68', 'score': 37.76}, {'connected_gene': 'GALNS', 'score': 30.9}, {'connected_gene': 'ANKRD11', 'score': 30.21}, {'connected_gene': 'LOC101927863', 'score': 28.59}, {'connected_gene': 'RPL13', 'score': 22.06}, {'connected_gene': 'ENSG00000260121', 'score': 21.2}, {'connected_gene': 'ZC3H18', 'score': 20.84}, {'connected_gene': 'ACSF3', 'score': 20.46}, {'connected_gene': 'CTU2', 'score': 20.26}, {'connected_gene': 'CDK10', 'score': 14.67}, {'connected_gene': 'ENSG00000268218', 'score': 12.99}, {'connected_gene': 'ENSG00000260279', 'score': 10.88}, {'connected_gene': 'SPG7', 'score': 10.77}, {'connected_gene': 'TRAPPC2L', 'score': 10.37}, {'connected_gene': 'BANP', 'score': 10.33}, {'connected_gene': 'LINC00304', 'score': 10.01}, {'connected_gene': 'CDH15', 'score': 4.46}, {'connected_gene': 'PIR39293', 'score': 0.77}, {'connected_gene': 'CDT1', 'score': 0.44}]
chr16 GH16I088854 88854323 88858502 2.25 [{'connected_gene': 'GALNS', 'score': 560.34}, {'connected_gene': 'TRAPPC2L', 'score': 550.77}, {'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'CYBA', 'score': 7.23}, {'connected_gene': 'RNF166', 'score': 5.99}, {'connected_gene': 'ZC3H18', 'score': 2.11}, {'connected_gene': 'SNAI3', 'score': 1.76}, {'connected_gene': 'CBFA2T3', 'score': 1.64}]
chr16 GH16I088840 88840001 88840400 0.43 [{'connected_gene': 'GALNS', 'score': 22.03}, {'connected_gene': 'PIR42461', 'score': 0.39}, {'connected_gene': 'TRAPPC2L', 'score': 0.37}]
chr16 GH16I088841 88840601 88840800 0.38 [{'connected_gene': 'GALNS', 'score': 11.96}, {'connected_gene': 'PIR42461', 'score': 0.39}, {'connected_gene': 'TRAPPC2L', 'score': 0.37}]
chr16 GH16I089112 89112781 89124096 1.68 [{'connected_gene': 'ACSF3', 'score': 38.68}, {'connected_gene': 'TRAPPC2L', 'score': 12.15}, {'connected_gene': 'GALNS', 'score': 12.15}, {'connected_gene': 'RNF166', 'score': 8.81}, {'connected_gene': 'TUBB3', 'score': 7.43}, {'connected_gene': 'CYBA', 'score': 6.44}, {'connected_gene': 'SNAI3', 'score': 5.89}, {'connected_gene': 'ENSG00000259877', 'score': 5.83}, {'connected_gene': 'ENSG00000260279', 'score': 5.23}, {'connected_gene': 'SLC22A31', 'score': 5.21}, {'connected_gene': 'RPL13', 'score': 2.87}, {'connected_gene': 'CBFA2T3', 'score': 2.72}, {'connected_gene': 'ENSG00000261546', 'score': 0.77}, {'connected_gene': 'GC16P089147', 'score': 0.31}]
chr16 GH16I089124 89124133 89124282 0.51 [{'connected_gene': 'ACSF3', 'score': 13.35}, {'connected_gene': 'TRAPPC2L', 'score': 11.76}, {'connected_gene': 'GALNS', 'score': 11.76}, {'connected_gene': 'ENSG00000261546', 'score': 0.44}, {'connected_gene': 'GC16P089147', 'score': 0.34}]
chr16 GH16I088879 88879020 88882715 1.08 [{'connected_gene': 'LOC101927793', 'score': 555.79}, {'connected_gene': 'GALNS', 'score': 18.43}, {'connected_gene': 'SNORD68', 'score': 16.82}, {'connected_gene': 'TRAPPC2L', 'score': 13.28}, {'connected_gene': 'RPL13', 'score': 12.8}, {'connected_gene': 'ANKRD11', 'score': 12.78}, {'connected_gene': 'LOC100129697', 'score': 12.16}, {'connected_gene': 'ZC3H18', 'score': 12.11}, {'connected_gene': 'CBFA2T3', 'score': 12.09}, {'connected_gene': 'BANP', 'score': 10.33}, {'connected_gene': 'PABPN1L', 'score': 0.39}]
chr16 GH16I089246 89246553 89248879 1.45 [{'connected_gene': 'ENSG00000259877', 'score': 16.79}, {'connected_gene': 'TRAPPC2L', 'score': 12.84}, {'connected_gene': 'ZNF778', 'score': 6.38}, {'connected_gene': 'ENSG00000260279', 'score': 6.37}, {'connected_gene': 'ACSF3', 'score': 5.78}, {'connected_gene': 'SLC22A31', 'score': 4.68}, {'connected_gene': 'ZNF276', 'score': 1.81}, {'connected_gene': 'LOC105371413', 'score': 0.44}, {'connected_gene': 'PIR44316', 'score': 0.39}]
chr16 GH16I089216 89216028 89218601 2.09 [{'connected_gene': 'ENSG00000259877', 'score': 591.94}, {'connected_gene': 'PIR52460', 'score': 550.77}, {'connected_gene': 'ZNF778', 'score': 550.37}, {'connected_gene': 'AFG3L1P', 'score': 21.67}, {'connected_gene': 'TCF25', 'score': 18.23}, {'connected_gene': 'CDK10', 'score': 12.86}, {'connected_gene': 'TRAPPC2L', 'score': 12.85}, {'connected_gene': 'PIEZO1', 'score': 11.69}, {'connected_gene': 'CTU2', 'score': 11.33}, {'connected_gene': 'ZNF276', 'score': 10.86}, {'connected_gene': 'ACSF3', 'score': 10.53}, {'connected_gene': 'GAS8', 'score': 10.51}, {'connected_gene': 'GAS8-AS1', 'score': 9.99}, {'connected_gene': 'MC1R', 'score': 9.95}, {'connected_gene': 'SLC22A31', 'score': 9.64}, {'connected_gene': 'ANKRD11', 'score': 4.9}]
chr16 GH16I088442 88442133 88444152 1.39 [{'connected_gene': 'ENSG00000259877', 'score': 23.15}, {'connected_gene': 'ZC3H18', 'score': 22.88}, {'connected_gene': 'KLHDC4', 'score': 17.26}, {'connected_gene': 'GALNS', 'score': 12.93}, {'connected_gene': 'LOC100289580', 'score': 12.17}, {'connected_gene': 'ZNF469', 'score': 11.98}, {'connected_gene': 'TRAPPC2L', 'score': 10.94}, {'connected_gene': 'CTU2', 'score': 10.62}, {'connected_gene': 'ZCCHC14', 'score': 10.61}, {'connected_gene': 'BANP', 'score': 10.21}, {'connected_gene': 'ENSG00000260121', 'score': 9.87}, {'connected_gene': 'ZFPM1', 'score': 5.72}, {'connected_gene': 'GC16P088248', 'score': 0.08}]

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