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
ENST00000446394 [[93170095, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244090, 93244102], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93274518]] [[93170195, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244090, 93244102], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93272141]]
ENST00000371681 [[93170100, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93223421]] [[93170195, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221965]]
ENST00000298068 [[93170101, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93274518]] [[93170195, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93272141]]
ENST00000536715 [[93221896, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244263, 93244412], [93244936, 93245060], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93272839]] [[93250998, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93272141]]
ENST00000498446 [[93243846, 93244412], [93244936, 93249738]] None
ENST00000371667 [[93243864, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93274586]] [[93245016, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93272141]]
NM_173497 [[93170041, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93223421]] [[93170195, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221965]]
NR_104291 [[93170041, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244263, 93244412], [93244936, 93245060], [93247476, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255961, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93274586]] None
NM_182765 [[93170041, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93274586]] [[93170195, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93272141]]
NM_001284274 [[93170041, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244090, 93244102], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93274586]] [[93170195, 93170333], [93185037, 93185167], [93220183, 93220322], [93221010, 93221113], [93221851, 93221941], [93237957, 93238022], [93240850, 93240896], [93242723, 93242833], [93244090, 93244102], [93244263, 93244412], [93244936, 93245060], [93247438, 93247535], [93250956, 93251064], [93252108, 93252241], [93253176, 93253265], [93255970, 93256129], [93257864, 93257939], [93258628, 93258716], [93258800, 93258907], [93260258, 93260374], [93260947, 93261091], [93272020, 93272141]]
Promoter
Chrom Start End Description
chr10 93170057 93170073 CAGE_peak_2_at_HECTD2_5end
chr10 93170081 93170180 CAGE_peak_1_at_HECTD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I091922 91922498 91925318 2.06 [{'connected_gene': 'BTAF1', 'score': 598.72}, {'connected_gene': 'HECTD2', 'score': 10.15}, {'connected_gene': 'TNKS2', 'score': 8.32}, {'connected_gene': 'ENSG00000252993', 'score': 0.1}]
chr10 GH10I091161 91161684 91165406 2.2 [{'connected_gene': 'PCGF5', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 15.59}, {'connected_gene': 'TNKS2', 'score': 12.41}, {'connected_gene': 'NUDT9P1', 'score': 6.74}, {'connected_gene': 'HECTD2', 'score': 1.83}, {'connected_gene': 'PIR60971', 'score': 0.28}]
chr10 GH10I091602 91602451 91606493 1.42 [{'connected_gene': 'PPP1R3C', 'score': 21.27}, {'connected_gene': 'BTAF1', 'score': 11.52}, {'connected_gene': 'TNKS2', 'score': 8.1}, {'connected_gene': 'HECTD2', 'score': 6.73}, {'connected_gene': 'HECTD2-AS1', 'score': 0.44}, {'connected_gene': 'LOC105378433', 'score': 0.23}]
chr10 GH10I091595 91595884 91599591 1.21 [{'connected_gene': 'PPP1R3C', 'score': 22.18}, {'connected_gene': 'HECTD2', 'score': 6.33}, {'connected_gene': 'TNKS2', 'score': 6.16}, {'connected_gene': 'HECTD2-AS1', 'score': 0.39}, {'connected_gene': 'LOC105378433', 'score': 0.26}]
chr10 GH10I091671 91671502 91672987 1.03 [{'connected_gene': 'PPP1R3C', 'score': 10.84}, {'connected_gene': 'HECTD2', 'score': 7.4}, {'connected_gene': 'GAPDHP28', 'score': 0.77}, {'connected_gene': 'GC10M091739', 'score': 0.18}]
chr10 GH10I091629 91629432 91634141 2.39 [{'connected_gene': 'PPP1R3C', 'score': 557.96}, {'connected_gene': 'TNKS2-AS1', 'score': 15.16}, {'connected_gene': 'HECTD2', 'score': 7.22}, {'connected_gene': 'TNKS2', 'score': 5.12}, {'connected_gene': 'HECTD2-AS1', 'score': 0.34}]
chr10 GH10I091511 91511433 91513013 0.88 [{'connected_gene': 'RPS27P1', 'score': 0.29}, {'connected_gene': 'ENSG00000271385', 'score': 0.25}, {'connected_gene': 'HECTD2-AS1', 'score': 0.15}, {'connected_gene': 'HECTD2', 'score': 0.15}]
chr10 GH10I090923 90923994 90926230 0.52 [{'connected_gene': 'HTR7', 'score': 14.65}, {'connected_gene': 'HECTD2', 'score': 4.0}, {'connected_gene': 'RNU6-740P', 'score': 0.77}, {'connected_gene': 'GC10M090939', 'score': 0.23}]
chr10 GH10I090855 90855586 90860273 2.02 [{'connected_gene': 'HTR7', 'score': 559.88}, {'connected_gene': 'HECTD2', 'score': 4.12}, {'connected_gene': 'RPP30', 'score': 0.39}]
chr10 GH10I091340 91340524 91342413 0.76 [{'connected_gene': 'ANKRD1', 'score': 9.56}, {'connected_gene': 'RNU6-740P', 'score': 9.56}, {'connected_gene': 'GC10P091296', 'score': 0.26}, {'connected_gene': 'HECTD2', 'score': 0.2}, {'connected_gene': 'GC10M091340', 'score': 0.17}, {'connected_gene': 'HECTD2-AS1', 'score': 0.06}]
chr10 GH10I091907 91907520 91909801 2.03 [{'connected_gene': 'FGFBP3', 'score': 556.94}, {'connected_gene': 'ENSG00000272817', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 24.19}, {'connected_gene': 'HECTD2', 'score': 13.47}, {'connected_gene': 'TNKS2', 'score': 6.72}]
chr10 GH10I091519 91519979 91521131 0.63 [{'connected_gene': 'HECTD2', 'score': 8.3}, {'connected_gene': 'PPP1R3C', 'score': 6.66}, {'connected_gene': 'RPS27P1', 'score': 0.34}, {'connected_gene': 'ENSG00000271385', 'score': 0.22}, {'connected_gene': 'HECTD2-AS1', 'score': 0.16}]
chr10 GH10I091615 91615750 91617942 1.2 [{'connected_gene': 'HECTD2', 'score': 7.61}, {'connected_gene': 'PPP1R3C', 'score': 6.9}, {'connected_gene': 'TNKS2-AS1', 'score': 4.63}, {'connected_gene': 'HECTD2-AS1', 'score': 0.44}]
chr10 GH10I091689 91689787 91690317 0.76 [{'connected_gene': 'HECTD2', 'score': 6.15}, {'connected_gene': 'GAPDHP28', 'score': 0.34}, {'connected_gene': 'GC10M091739', 'score': 0.21}]
chr10 GH10I091701 91701001 91701442 0.52 [{'connected_gene': 'HECTD2', 'score': 6.7}, {'connected_gene': 'GAPDHP28', 'score': 0.29}, {'connected_gene': 'GC10M091739', 'score': 0.25}]
chr10 GH10I091523 91523687 91523991 0.22 [{'connected_gene': 'HECTD2', 'score': 2.13}, {'connected_gene': 'RPS27P1', 'score': 0.34}, {'connected_gene': 'ENSG00000271385', 'score': 0.22}, {'connected_gene': 'HECTD2-AS1', 'score': 0.17}]
chr10 GH10I090822 90822564 90822713 0.31 [{'connected_gene': 'HECTD2', 'score': 12.15}, {'connected_gene': 'HTR7', 'score': 11.53}, {'connected_gene': 'RPP30', 'score': 11.32}, {'connected_gene': 'PIR38191', 'score': 0.44}, {'connected_gene': 'PIR51660', 'score': 0.28}]
chr10 GH10I091607 91607455 91610082 1.7 [{'connected_gene': 'HECTD2', 'score': 62.06}, {'connected_gene': 'RPP30', 'score': 59.23}, {'connected_gene': 'BTAF1', 'score': 55.96}, {'connected_gene': 'PPP1R3C', 'score': 23.58}, {'connected_gene': 'FGFBP3', 'score': 12.61}, {'connected_gene': 'TNKS2-AS1', 'score': 11.09}, {'connected_gene': 'MARK2P9', 'score': 9.75}, {'connected_gene': 'TNKS2', 'score': 6.52}, {'connected_gene': 'HECTD2-AS1', 'score': 0.77}, {'connected_gene': 'LOC105378433', 'score': 0.22}]
chr10 GH10I091408 91408912 91411948 2.03 [{'connected_gene': 'HECTD2', 'score': 550.77}, {'connected_gene': 'RPP30', 'score': 11.65}, {'connected_gene': 'ANKRD1', 'score': 4.81}, {'connected_gene': 'GC10M091340', 'score': 0.34}, {'connected_gene': 'HECTD2-AS1', 'score': 0.08}]
chr10 GH10I091420 91420801 91421400 0.38 [{'connected_gene': 'HECTD2', 'score': 0.39}, {'connected_gene': 'GC10M091340', 'score': 0.39}, {'connected_gene': 'HECTD2-AS1', 'score': 0.08}]
chr10 GH10I091414 91414102 91415395 0.97 [{'connected_gene': 'HECTD2', 'score': 0.44}, {'connected_gene': 'GC10M091340', 'score': 0.37}, {'connected_gene': 'HECTD2-AS1', 'score': 0.08}]
chr10 GH10I091348 91348545 91352209 0.99 [{'connected_gene': 'HECTD2', 'score': 9.5}, {'connected_gene': 'GC10P091296', 'score': 0.23}, {'connected_gene': 'GC10M091340', 'score': 0.18}, {'connected_gene': 'HECTD2-AS1', 'score': 0.07}]
chr10 GH10I091389 91389744 91390200 0.77 [{'connected_gene': 'HECTD2', 'score': 0.37}, {'connected_gene': 'GC10M091340', 'score': 0.26}, {'connected_gene': 'GC10P091296', 'score': 0.16}, {'connected_gene': 'HECTD2-AS1', 'score': 0.07}]
chr10 GH10I091381 91381384 91381533 0.63 [{'connected_gene': 'HECTD2', 'score': 0.31}, {'connected_gene': 'GC10M091340', 'score': 0.25}, {'connected_gene': 'GC10P091296', 'score': 0.18}, {'connected_gene': 'HECTD2-AS1', 'score': 0.07}]
chr10 GH10I091587 91587553 91594885 1.79 [{'connected_gene': 'RPP30', 'score': 29.89}, {'connected_gene': 'BTAF1', 'score': 16.82}, {'connected_gene': 'HECTD2', 'score': 16.26}, {'connected_gene': 'TNKS2-AS1', 'score': 14.68}, {'connected_gene': 'PPP1R3C', 'score': 6.1}, {'connected_gene': 'TNKS2', 'score': 4.63}, {'connected_gene': 'HECTD2-AS1', 'score': 0.34}, {'connected_gene': 'LOC105378433', 'score': 0.28}]
chr10 GH10I090870 90870904 90873117 1.97 [{'connected_gene': 'RPP30', 'score': 550.77}, {'connected_gene': 'HECTD2', 'score': 4.58}, {'connected_gene': 'ENSG00000222305', 'score': 0.44}]
chr10 GH10I091883 91883141 91888284 1.66 [{'connected_gene': 'TNKS2-AS1', 'score': 37.54}, {'connected_gene': 'TNKS2', 'score': 31.72}, {'connected_gene': 'BTAF1', 'score': 15.85}, {'connected_gene': 'NUDT9P1', 'score': 9.87}, {'connected_gene': 'HECTD2', 'score': 5.42}, {'connected_gene': 'FGFBP3', 'score': 1.68}, {'connected_gene': 'ENSG00000273497', 'score': 0.39}, {'connected_gene': 'GC10M091835', 'score': 0.28}]
chr10 GH10I091795 91795984 91800803 2.04 [{'connected_gene': 'TNKS2-AS1', 'score': 595.28}, {'connected_gene': 'TNKS2', 'score': 570.76}, {'connected_gene': 'GC10M091797', 'score': 550.77}, {'connected_gene': 'PIR42497', 'score': 550.77}, {'connected_gene': 'HECTD2', 'score': 4.83}, {'connected_gene': 'SRP9P1', 'score': 0.44}]
chr10 GH10I091683 91683449 91685056 0.69 [{'connected_gene': 'TNKS2-AS1', 'score': 30.9}, {'connected_gene': 'TNKS2', 'score': 16.77}, {'connected_gene': 'HECTD2', 'score': 6.95}, {'connected_gene': 'GAPDHP28', 'score': 0.37}, {'connected_gene': 'GC10M091739', 'score': 0.2}]
chr10 GH10I091755 91755992 91756623 0.43 [{'connected_gene': 'TNKS2-AS1', 'score': 26.0}, {'connected_gene': 'TNKS2', 'score': 11.13}, {'connected_gene': 'HECTD2', 'score': 5.35}, {'connected_gene': 'GC10M091739', 'score': 0.44}, {'connected_gene': 'GC10P091765', 'score': 0.44}]
chr10 GH10I091581 91581644 91583348 0.76 [{'connected_gene': 'TNKS2-AS1', 'score': 13.54}, {'connected_gene': 'PPP1R3C', 'score': 10.49}, {'connected_gene': 'HECTD2', 'score': 4.31}, {'connected_gene': 'LOC105378433', 'score': 0.31}, {'connected_gene': 'HECTD2-AS1', 'score': 0.31}]
chr10 GH10I091610 91610231 91614947 1.48 [{'connected_gene': 'HECTD2-AS1', 'score': 550.77}, {'connected_gene': 'PPP1R3C', 'score': 24.62}, {'connected_gene': 'HECTD2', 'score': 11.25}, {'connected_gene': 'TNKS2', 'score': 8.92}, {'connected_gene': 'TNKS2-AS1', 'score': 8.57}]
chr10 GH10I092121 92121724 92125868 1.14 [{'connected_gene': 'ENSG00000252993', 'score': 10.59}, {'connected_gene': 'BTAF1', 'score': 7.66}, {'connected_gene': 'HECTD2', 'score': 6.29}, {'connected_gene': 'GC10P092119', 'score': 0.44}, {'connected_gene': 'GC10M092115', 'score': 0.44}, {'connected_gene': 'CPEB3', 'score': 0.1}]
chr10 GH10I091297 91297904 91299305 1.04 [{'connected_gene': 'GC10P091296', 'score': 550.77}, {'connected_gene': 'PPP1R3C', 'score': 11.12}, {'connected_gene': 'HECTD2', 'score': 0.14}]
chr10 GH10I090914 90914878 90922751 1.88 [{'connected_gene': 'GC10M090914', 'score': 550.77}, {'connected_gene': 'ANKRD1', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 6.43}, {'connected_gene': 'HECTD2', 'score': 4.69}, {'connected_gene': 'RNU6-740P', 'score': 0.77}]
chr10 GH10I091313 91313444 91314743 0.43 [{'connected_gene': 'GC10P091296', 'score': 0.37}, {'connected_gene': 'HECTD2', 'score': 0.15}, {'connected_gene': 'HECTD2-AS1', 'score': 0.06}]
chr10 GH10I091344 91344244 91344393 0.2 [{'connected_gene': 'GC10P091296', 'score': 0.25}, {'connected_gene': 'HECTD2', 'score': 0.21}, {'connected_gene': 'GC10M091340', 'score': 0.17}, {'connected_gene': 'HECTD2-AS1', 'score': 0.06}]

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