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
ENST00000319084 [[6640060, 6640109], [6640600, 6641359], [6642117, 6642359]] [[6640669, 6641359], [6642117, 6642359]]
ENST00000435905 [[6640076, 6640130], [6640600, 6641359], [6642117, 6642305]] [[6640669, 6641359], [6642117, 6642305]]
ENST00000377674 [[6640107, 6640196], [6640600, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649340]] [[6640669, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649272]]
ENST00000488936 [[6640147, 6640196], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648165]] [[6642162, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648165]]
ENST00000482360 [[6645361, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649340]] None
ENST00000498342 [[6646266, 6647351], [6647537, 6647692], [6648119, 6649340]] None
ENST00000466813 [[6647315, 6647351], [6647574, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649220]] [[6647315, 6647351], [6647574, 6647692], [6648119, 6648256], [6648337, 6648433]]
ENST00000466941 [[6648746, 6648904], [6648975, 6649340]] None
NM_001278647 [[6640050, 6640109], [6640600, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649340]] [[6640669, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649272]]
NM_001278648 [[6640050, 6640130], [6640600, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649340]] [[6640669, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649272]]
NM_005341 [[6640050, 6640196], [6640600, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649340]] [[6640669, 6641359], [6642117, 6642359], [6645978, 6646090], [6646754, 6646847], [6647264, 6647351], [6647537, 6647692], [6648119, 6648256], [6648337, 6648502], [6648815, 6648904], [6648975, 6649272]]
Promoter
Chrom Start End Description
chr1 6640046 6640101 CAGE_peak_1_at_ZBTB48_5end
chr1 6640110 6640130 CAGE_peak_2_at_ZBTB48_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006598 6598774 6605649 2.65 [{'connected_gene': 'KLHL21', 'score': 579.98}, {'connected_gene': 'PIR47122', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 40.05}, {'connected_gene': 'RPL22', 'score': 27.12}, {'connected_gene': 'ZBTB48', 'score': 14.33}, {'connected_gene': 'NOL9', 'score': 11.77}, {'connected_gene': 'PHF13', 'score': 10.33}, {'connected_gene': 'PIR44711', 'score': 0.44}]
chr1 GH01I006404 6404761 6404910 0.98 [{'connected_gene': 'THAP3', 'score': 131.34}, {'connected_gene': 'NOL9', 'score': 113.68}, {'connected_gene': 'RPL22', 'score': 38.11}, {'connected_gene': 'CAMTA1-DT', 'score': 29.32}, {'connected_gene': 'LOC102724450', 'score': 22.73}, {'connected_gene': 'PHF13', 'score': 21.95}, {'connected_gene': 'ZBTB48', 'score': 21.48}, {'connected_gene': 'CAMTA1', 'score': 19.37}, {'connected_gene': 'NPHP4', 'score': 19.31}, {'connected_gene': 'GC01M006398', 'score': 0.44}, {'connected_gene': 'HES2', 'score': 0.37}]
chr1 GH01I006621 6621684 6626574 2.21 [{'connected_gene': 'THAP3', 'score': 573.8}, {'connected_gene': 'PIR49894', 'score': 550.77}, {'connected_gene': 'PIR36035', 'score': 550.77}, {'connected_gene': 'GC01M006623', 'score': 550.77}, {'connected_gene': 'GC01P006623', 'score': 550.77}, {'connected_gene': 'PIR43515', 'score': 550.77}, {'connected_gene': 'PIR33589', 'score': 550.77}, {'connected_gene': 'PIR42172', 'score': 550.77}, {'connected_gene': 'GC01P006622', 'score': 550.77}, {'connected_gene': 'PIR56637', 'score': 550.77}, {'connected_gene': 'ZBTB48', 'score': 4.94}, {'connected_gene': 'PHF13', 'score': 0.39}]
chr1 GH01I006127 6127378 6129417 1 [{'connected_gene': 'CHD5', 'score': 11.58}, {'connected_gene': 'ZBTB48', 'score': 4.97}, {'connected_gene': 'LOC105376687', 'score': 0.77}, {'connected_gene': 'GC01M006038', 'score': 0.17}]
chr1 GH01I006293 6293628 6295795 0.99 [{'connected_gene': 'ESPN', 'score': 17.97}, {'connected_gene': 'THAP3', 'score': 14.88}, {'connected_gene': 'NOL9', 'score': 12.33}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'NPHP4', 'score': 9.9}, {'connected_gene': 'ZBTB48', 'score': 3.67}, {'connected_gene': 'GPR153', 'score': 2.23}, {'connected_gene': 'ACOT7', 'score': 1.52}, {'connected_gene': 'GC01P006262', 'score': 0.29}, {'connected_gene': 'ENSG00000271746', 'score': 0.15}]
chr1 GH01I006275 6275547 6277685 1.35 [{'connected_gene': 'ESPN', 'score': 12.58}, {'connected_gene': 'RNF207', 'score': 11.04}, {'connected_gene': 'GPR153', 'score': 2.04}, {'connected_gene': 'ZBTB48', 'score': 1.93}, {'connected_gene': 'PHF13', 'score': 1.38}, {'connected_gene': 'ACOT7', 'score': 1.28}, {'connected_gene': 'GC01P006262', 'score': 0.37}, {'connected_gene': 'ENSG00000271746', 'score': 0.13}]
chr1 GH01I006313 6313463 6313839 0.54 [{'connected_gene': 'ESPN', 'score': 20.08}, {'connected_gene': 'ZBTB48', 'score': 3.5}, {'connected_gene': 'ACOT7', 'score': 2.11}, {'connected_gene': 'GPR153', 'score': 1.7}, {'connected_gene': 'GC01P006262', 'score': 0.23}, {'connected_gene': 'ENSG00000271746', 'score': 0.18}]
chr1 GH01I006299 6299190 6303682 1.07 [{'connected_gene': 'ESPN', 'score': 18.97}, {'connected_gene': 'ACOT7', 'score': 5.85}, {'connected_gene': 'ZBTB48', 'score': 3.34}, {'connected_gene': 'PLEKHG5', 'score': 2.75}, {'connected_gene': 'GPR153', 'score': 2.15}, {'connected_gene': 'HES2', 'score': 2.06}, {'connected_gene': 'THAP3', 'score': 1.97}, {'connected_gene': 'NPHP4', 'score': 1.56}, {'connected_gene': 'GC01P006262', 'score': 0.26}, {'connected_gene': 'ENSG00000271746', 'score': 0.16}]
chr1 GH01I006290 6290072 6292388 1.2 [{'connected_gene': 'ESPN', 'score': 13.81}, {'connected_gene': 'ACOT7', 'score': 6.98}, {'connected_gene': 'ZBTB48', 'score': 4.03}, {'connected_gene': 'GPR153', 'score': 1.91}, {'connected_gene': 'GC01P006262', 'score': 0.31}, {'connected_gene': 'ENSG00000271746', 'score': 0.15}]
chr1 GH01I006587 6587455 6588994 0.58 [{'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'KLHL21', 'score': 12.52}, {'connected_gene': 'PHF13', 'score': 12.52}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'THAP3', 'score': 11.55}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'GC01M006590', 'score': 0.77}, {'connected_gene': 'ZBTB48', 'score': 0.44}]
chr1 GH01I006553 6553015 6555865 2.07 [{'connected_gene': 'NOL9', 'score': 550.77}, {'connected_gene': 'TAS1R1', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 25.71}, {'connected_gene': 'PLEKHG5', 'score': 16.5}, {'connected_gene': 'ZBTB48', 'score': 15.33}, {'connected_gene': 'PHF13', 'score': 10.83}, {'connected_gene': 'ENSG00000229519', 'score': 0.44}]
chr1 GH01I007264 7264858 7268530 1.53 [{'connected_gene': 'NOL9', 'score': 10.76}, {'connected_gene': 'LOC101928836', 'score': 10.62}, {'connected_gene': 'THAP3', 'score': 10.3}, {'connected_gene': 'ZBTB48', 'score': 10.29}, {'connected_gene': 'GC01M007245', 'score': 0.39}, {'connected_gene': 'CAMTA1-IT1', 'score': 0.15}, {'connected_gene': 'CAMTA1', 'score': 0.04}]
chr1 GH01I006700 6700363 6702470 2.1 [{'connected_gene': 'DNAJC11', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 36.43}, {'connected_gene': 'ZBTB48', 'score': 30.38}, {'connected_gene': 'NOL9', 'score': 18.15}, {'connected_gene': 'RPL22', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.78}, {'connected_gene': 'KLHL21', 'score': 10.19}, {'connected_gene': 'GC01M006638', 'score': 0.21}]
chr1 GH01I006204 6204261 6207175 2.27 [{'connected_gene': 'RNF207', 'score': 568.55}, {'connected_gene': 'LOC102724450', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 28.89}, {'connected_gene': 'PHF13', 'score': 14.11}, {'connected_gene': 'ZBTB48', 'score': 13.02}, {'connected_gene': 'RPL22', 'score': 12.2}, {'connected_gene': 'NOL9', 'score': 11.78}]
chr1 GH01I006578 6578956 6583201 2.25 [{'connected_gene': 'ZBTB48', 'score': 560.32}, {'connected_gene': 'THAP3', 'score': 5.23}, {'connected_gene': 'GC01M006590', 'score': 0.39}, {'connected_gene': 'TAS1R1', 'score': 0.31}]
chr1 GH01I006186 6185901 6186010 0.67 [{'connected_gene': 'ZBTB48', 'score': 12.06}, {'connected_gene': 'CHD5', 'score': 0.44}, {'connected_gene': 'GC01M006194', 'score': 0.39}, {'connected_gene': 'RPL22', 'score': 0.34}]
chr1 GH01I006579 6578201 6578400 0.51 [{'connected_gene': 'ZBTB48', 'score': 550.77}, {'connected_gene': 'PIR53364', 'score': 0.44}, {'connected_gene': 'TAS1R1', 'score': 0.34}]
chr1 GH01I006515 6515449 6516501 0.51 [{'connected_gene': 'ZBTB48', 'score': 7.88}, {'connected_gene': 'PLEKHG5', 'score': 0.77}, {'connected_gene': 'TNFRSF25', 'score': 0.25}]
chr1 GH01I005917 5917661 5917810 0.94 [{'connected_gene': 'ZBTB48', 'score': 11.14}, {'connected_gene': 'PHF13', 'score': 9.96}, {'connected_gene': 'NPHP4', 'score': 7.8}, {'connected_gene': 'GC01M005892', 'score': 0.37}, {'connected_gene': 'KCNAB2', 'score': 0.19}]
chr1 GH01I005831 5831832 5832750 0.43 [{'connected_gene': 'ZBTB48', 'score': 5.05}, {'connected_gene': 'PIR32505', 'score': 0.31}, {'connected_gene': 'ENSG00000236948', 'score': 0.1}]
chr1 GH01I005990 5990873 5995461 2.57 [{'connected_gene': 'NPHP4', 'score': 569.4}, {'connected_gene': 'KCNAB2', 'score': 557.84}, {'connected_gene': 'THAP3', 'score': 28.97}, {'connected_gene': 'TNFRSF25', 'score': 21.26}, {'connected_gene': 'PHF13', 'score': 21.1}, {'connected_gene': 'RPL22', 'score': 20.75}, {'connected_gene': 'ZBTB48', 'score': 19.93}, {'connected_gene': 'NOL9', 'score': 10.05}, {'connected_gene': 'CHD5', 'score': 3.38}, {'connected_gene': 'GC01M006038', 'score': 0.25}]
chr1 GH01I006233 6233275 6236706 2.02 [{'connected_gene': 'ICMT', 'score': 568.99}, {'connected_gene': 'LINC00337', 'score': 562.66}, {'connected_gene': 'ZBTB48', 'score': 21.74}, {'connected_gene': 'RPL22', 'score': 11.28}, {'connected_gene': 'THAP3', 'score': 11.15}, {'connected_gene': 'NOL9', 'score': 10.08}, {'connected_gene': 'GPR153', 'score': 7.82}, {'connected_gene': 'RNF207', 'score': 5.4}]
chr1 GH01I006391 6391996 6394636 2.02 [{'connected_gene': 'ACOT7', 'score': 564.81}, {'connected_gene': 'ENSG00000271746', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 20.13}, {'connected_gene': 'ZBTB48', 'score': 11.42}, {'connected_gene': 'THAP3', 'score': 11.17}, {'connected_gene': 'RPL22', 'score': 11.05}, {'connected_gene': 'NOL9', 'score': 10.12}, {'connected_gene': 'GC01P006262', 'score': 0.12}]
chr1 GH01I006783 6783404 6786971 2.06 [{'connected_gene': 'CAMTA1-DT', 'score': 550.77}, {'connected_gene': 'CAMTA1', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 21.17}, {'connected_gene': 'ZBTB48', 'score': 20.76}, {'connected_gene': 'NOL9', 'score': 9.75}]
chr1 GH01I006589 6589051 6589856 0.74 [{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 16.51}, {'connected_gene': 'PHF13', 'score': 13.06}, {'connected_gene': 'KLHL21', 'score': 13.03}, {'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'ZBTB48', 'score': 0.44}]
chr1 GH01I006197 6197742 6200945 2.09 [{'connected_gene': 'GC01M006194', 'score': 550.77}, {'connected_gene': 'RPL22', 'score': 550.39}, {'connected_gene': 'PHF13', 'score': 31.47}, {'connected_gene': 'RNF207', 'score': 13.01}, {'connected_gene': 'NOL9', 'score': 11.79}, {'connected_gene': 'ZBTB48', 'score': 11.16}, {'connected_gene': 'THAP3', 'score': 10.33}]

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