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
ENST00000054650 [[6684925, 6685014], [6685209, 6685352], [6688558, 6688751], [6690347, 6690413], [6692450, 6692555], [6692855, 6693625]] [[6685278, 6685352], [6688558, 6688751], [6690347, 6690413], [6692450, 6692555], [6692855, 6693137]]
ENST00000484676 [[6685230, 6685352], [6687822, 6688579]] None
ENST00000307896 [[6685240, 6685352], [6688558, 6688751], [6690350, 6690413], [6692450, 6692555], [6692855, 6693428]] [[6685278, 6685352], [6688558, 6688751], [6690350, 6690413], [6692450, 6692555], [6692855, 6693137]]
ENST00000377627 [[6685251, 6685352], [6688558, 6688751], [6690347, 6690413], [6692429, 6692555], [6694079, 6695646]] [[6685278, 6685352], [6688558, 6688751], [6690347, 6690413], [6692429, 6692555], [6694079, 6694148]]
ENST00000484669 [[6685257, 6685352], [6690347, 6690413], [6692450, 6692555], [6692855, 6693333]] None
ENST00000487819 [[6685284, 6685352], [6688558, 6688751], [6689702, 6689784], [6690347, 6690413], [6692450, 6692555], [6692855, 6693181]] [[6685284, 6685352], [6688558, 6688751], [6689702, 6689784], [6690347, 6690379]]
ENST00000472925 [[6685289, 6685352], [6688558, 6688751], [6690347, 6690413], [6692450, 6693111]] [[6685289, 6685352], [6688558, 6688751], [6690347, 6690413], [6692450, 6692822]]
ENST00000480647 [[6688454, 6688751], [6690347, 6690386]] None
NM_001195753 [[6684924, 6685014], [6685209, 6685352], [6688558, 6688751], [6690347, 6690413], [6692450, 6692555], [6692855, 6693642]] [[6685278, 6685352], [6688558, 6688751], [6690347, 6690413], [6692450, 6692555], [6692855, 6693137]]
NM_001195752 [[6685209, 6685352], [6688558, 6688751], [6690350, 6690413], [6692450, 6692555], [6692855, 6693642]] [[6685278, 6685352], [6688558, 6688751], [6690350, 6690413], [6692450, 6692555], [6692855, 6693137]]
NM_138350 [[6685209, 6685352], [6688558, 6688751], [6690347, 6690413], [6692429, 6692555], [6694079, 6695646]] [[6685278, 6685352], [6688558, 6688751], [6690347, 6690413], [6692429, 6692555], [6694079, 6694148]]
Promoter
Chrom Start End Description
chr1 6684918 6684936 CAGE_peak_2_at_THAP3_5end
chr1 6685228 6685270 CAGE_peak_1_at_THAP3_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 GH01I006609 6609243 6616028 2.46 [{'connected_gene': 'KLHL21', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 550.77}, {'connected_gene': 'PIR56319', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 11.52}]
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 GH01I007477 7477361 7479906 1.15 [{'connected_gene': 'THAP3', 'score': 14.85}, {'connected_gene': 'NOL9', 'score': 12.29}, {'connected_gene': 'LOC101928836', 'score': 11.28}, {'connected_gene': 'ENSG00000237365', 'score': 9.55}, {'connected_gene': 'GC01M007489', 'score': 0.39}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I006596 6596301 6598379 0.56 [{'connected_gene': 'THAP3', 'score': 10.75}, {'connected_gene': 'PLEKHG5', 'score': 5.05}, {'connected_gene': 'PIR44711', 'score': 0.77}, {'connected_gene': 'PIR47122', 'score': 0.44}, {'connected_gene': 'KLHL21', 'score': 0.37}]
chr1 GH01I006628 6627732 6628988 0.38 [{'connected_gene': 'THAP3', 'score': 15.06}, {'connected_gene': 'PLEKHG5', 'score': 10.73}, {'connected_gene': 'GC01M006638', 'score': 0.39}]
chr1 GH01I006649 6649029 6649161 0.34 [{'connected_gene': 'THAP3', 'score': 12.09}, {'connected_gene': 'DNAJC11', 'score': 11.13}, {'connected_gene': 'KLHL21', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.99}, {'connected_gene': 'GC01M006638', 'score': 0.44}]
chr1 GH01I007498 7498389 7498665 0.72 [{'connected_gene': 'THAP3', 'score': 35.01}, {'connected_gene': 'SLC45A1', 'score': 28.12}, {'connected_gene': 'ENSG00000236266', 'score': 20.21}, {'connected_gene': 'NOL9', 'score': 19.07}, {'connected_gene': 'PHF13', 'score': 16.55}, {'connected_gene': 'PER3', 'score': 13.65}, {'connected_gene': 'CAMTA1', 'score': 11.79}, {'connected_gene': 'LOC105376691', 'score': 0.77}, {'connected_gene': 'GC01M007489', 'score': 0.44}]
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 GH01I006523 6523681 6523850 0.72 [{'connected_gene': 'THAP3', 'score': 10.63}, {'connected_gene': 'PHF13', 'score': 9.92}, {'connected_gene': 'KLHL21', 'score': 9.92}, {'connected_gene': 'PLEKHG5', 'score': 0.77}, {'connected_gene': 'RNU6-731P', 'score': 0.37}, {'connected_gene': 'NOL9', 'score': 0.29}]
chr1 GH01I006627 6627165 6627260 0.31 [{'connected_gene': 'THAP3', 'score': 0.77}, {'connected_gene': 'GC01M006638', 'score': 0.39}]
chr1 GH01I007297 7297285 7303104 1.62 [{'connected_gene': 'PER3', 'score': 13.89}, {'connected_gene': 'THAP3', 'score': 11.66}, {'connected_gene': 'NOL9', 'score': 10.46}, {'connected_gene': 'LOC101928836', 'score': 10.27}, {'connected_gene': 'GC01M007245', 'score': 0.26}, {'connected_gene': 'CAMTA1-IT1', 'score': 0.2}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
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 GH01I006347 6347561 6349745 1.26 [{'connected_gene': 'ESPN', 'score': 16.14}, {'connected_gene': 'NOL9', 'score': 10.81}, {'connected_gene': 'THAP3', 'score': 10.34}, {'connected_gene': 'ENSG00000271746', 'score': 0.26}, {'connected_gene': 'ACOT7', 'score': 0.25}, {'connected_gene': 'GC01P006262', 'score': 0.17}]
chr1 GH01I006422 6422737 6425891 1.62 [{'connected_gene': 'ESPN', 'score': 579.78}, {'connected_gene': 'HES2', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 14.15}, {'connected_gene': 'NOL9', 'score': 11.85}, {'connected_gene': 'RNF207', 'score': 10.7}, {'connected_gene': 'LOC102724450', 'score': 10.7}, {'connected_gene': 'RPL22', 'score': 10.7}, {'connected_gene': 'THAP3', 'score': 10.37}, {'connected_gene': 'ACOT7', 'score': 6.48}, {'connected_gene': 'GC01M006398', 'score': 0.34}]
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 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 GH01I007401 7401223 7403918 1.39 [{'connected_gene': 'NOL9', 'score': 22.41}, {'connected_gene': 'LOC102725193', 'score': 12.36}, {'connected_gene': 'THAP3', 'score': 11.95}, {'connected_gene': 'LOC101928836', 'score': 10.84}, {'connected_gene': 'GC01M007403', 'score': 0.77}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
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 GH01I006487 6487571 6493544 2.42 [{'connected_gene': 'PLEKHG5', 'score': 599.25}, {'connected_gene': 'THAP3', 'score': 22.14}, {'connected_gene': 'TNFRSF25', 'score': 20.8}, {'connected_gene': 'NOL9', 'score': 13.57}, {'connected_gene': 'KLHL21', 'score': 10.64}, {'connected_gene': 'PHF13', 'score': 10.64}, {'connected_gene': 'ESPN', 'score': 7.18}]
chr1 GH01I006485 6485000 6487190 2.09 [{'connected_gene': 'PLEKHG5', 'score': 581.39}, {'connected_gene': 'THAP3', 'score': 13.19}, {'connected_gene': 'NOL9', 'score': 10.94}, {'connected_gene': 'ESPN', 'score': 8.32}, {'connected_gene': 'TNFRSF25', 'score': 0.37}]
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 GH01I006259 6259681 6264315 2.35 [{'connected_gene': 'GPR153', 'score': 572.89}, {'connected_gene': 'GC01P006262', 'score': 550.77}, {'connected_gene': 'ICMT', 'score': 18.67}, {'connected_gene': 'LINC00337', 'score': 12.7}, {'connected_gene': 'RPL22', 'score': 10.53}, {'connected_gene': 'RNF207', 'score': 10.52}, {'connected_gene': 'LOC102724450', 'score': 10.52}, {'connected_gene': 'CHD5', 'score': 10.52}, {'connected_gene': 'NOL9', 'score': 10.26}, {'connected_gene': 'THAP3', 'score': 1.99}, {'connected_gene': 'ACOT7', 'score': 0.12}, {'connected_gene': 'ENSG00000271746', 'score': 0.12}]
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 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 GH01I006819 6819343 6826361 1.06 [{'connected_gene': 'CAMTA1-DT', 'score': 13.03}, {'connected_gene': 'CAMTA1', 'score': 13.03}, {'connected_gene': 'ENSG00000237365', 'score': 9.38}, {'connected_gene': 'THAP3', 'score': 4.36}, {'connected_gene': 'RPL37P9', 'score': 0.39}]
chr1 GH01I006723 6723526 6725433 0.97 [{'connected_gene': 'LINC01672', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 11.65}, {'connected_gene': 'DNAJC11', 'score': 11.1}, {'connected_gene': 'CAMTA1-DT', 'score': 11.09}, {'connected_gene': 'CAMTA1', 'score': 11.09}, {'connected_gene': 'GC01P006718', 'score': 0.44}]
chr1 GH01I006591 6591553 6591733 0.4 [{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'PIR58337', 'score': 550.77}, {'connected_gene': 'PIR49591', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 21.36}, {'connected_gene': 'KLHL21', 'score': 13.06}, {'connected_gene': 'PHF13', 'score': 13.06}]
chr1 GH01I006592 6592348 6592948 0.49 [{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'PIR58337', 'score': 550.77}, {'connected_gene': 'PIR49591', 'score': 550.77}, {'connected_gene': 'PIR44711', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 21.84}, {'connected_gene': 'KLHL21', 'score': 13.06}, {'connected_gene': 'PHF13', 'score': 13.06}]
chr1 GH01I006594 6594730 6595887 0.43 [{'connected_gene': 'PIR44711', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 13.37}, {'connected_gene': 'PIR47122', 'score': 0.44}, {'connected_gene': 'KLHL21', 'score': 0.37}]
chr1 GH01I006637 6637881 6639063 0.38 [{'connected_gene': 'GC01M006638', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 0.39}, {'connected_gene': 'DNAJC11', 'score': 0.21}]
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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