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
ENST00000312838 [[88762902, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766140], [88767669, 88767826], [88772578, 88772829]] [[88763975, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766140], [88767669, 88767826], [88772578, 88772733]]
ENST00000567408 [[88762906, 88763117], [88765478, 88765493], [88766027, 88766114]] [[88763080, 88763117], [88765478, 88765493], [88766027, 88766114]]
ENST00000562544 [[88762906, 88763046], [88766027, 88766140], [88767669, 88767826], [88772578, 88772670]] [[88762961, 88763046], [88766027, 88766140], [88767669, 88767826], [88772578, 88772670]]
ENST00000537718 [[88762909, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766140], [88766954, 88767011]] [[88763975, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766125]]
ENST00000541206 [[88762943, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766140], [88767669, 88767826], [88769197, 88770025]] [[88763975, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766125]]
ENST00000565083 [[88763703, 88764041], [88764341, 88764591]] None
ENST00000568683 [[88763801, 88765017], [88765378, 88765493], [88766027, 88766464]] [[88764732, 88765017], [88765378, 88765493], [88766027, 88766125]]
ENST00000567844 [[88763886, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766095], [88772619, 88772806]] [[88763975, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766095], [88772619, 88772733]]
ENST00000564894 [[88767163, 88767348], [88767669, 88768058]] None
ENST00000562499 [[88767704, 88767826], [88769542, 88770010]] None
ENST00000569478 [[88767724, 88767826], [88769180, 88769649]] None
NM_001171816 [[88762902, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766140], [88767669, 88767826], [88769197, 88770025]] [[88763975, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766125]]
NM_001171815 [[88762902, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766095], [88772619, 88772800]] [[88763975, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766095], [88772619, 88772733]]
NM_178841 [[88762902, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766140], [88767669, 88767826], [88772578, 88772829]] [[88763975, 88764041], [88764909, 88765017], [88765378, 88765493], [88766027, 88766140], [88767669, 88767826], [88772578, 88772733]]
Promoter
Chrom Start End Description
chr16 88767349 88767358 CAGE_peak_7_at_RNF166_5end
chr16 88769979 88770008 CAGE_peak_2_at_RNF166_5end
chr16 88770019 88770033 CAGE_peak_3_at_RNF166_5end
chr16 88770052 88770065 CAGE_peak_4_at_RNF166_5end
chr16 88770100 88770115 CAGE_peak_5_at_RNF166_5end
chr16 88772695 88772702 CAGE_peak_9_at_RNF166_5end
chr16 88772761 88772839 CAGE_peak_1_at_RNF166_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 GH16I088766 88766866 88775391 1.79 [{'connected_gene': 'PIEZO1', 'score': 6.95}, {'connected_gene': 'APRT', 'score': 6.16}, {'connected_gene': 'RNF166', 'score': 5.46}, {'connected_gene': 'VPS9D1-AS1', 'score': 4.52}, {'connected_gene': 'LINC02166', 'score': 4.26}, {'connected_gene': 'LOC339059', 'score': 0.31}]
chr16 GH16I088743 88743309 88748202 1.29 [{'connected_gene': 'PIEZO1', 'score': 10.88}, {'connected_gene': 'RNF166', 'score': 7.66}, {'connected_gene': 'LOC339059', 'score': 7.02}, {'connected_gene': 'SNAI3-AS1', 'score': 6.95}, {'connected_gene': 'LOC100289580', 'score': 6.9}, {'connected_gene': 'CTU2', 'score': 6.57}, {'connected_gene': 'APRT', 'score': 6.08}]
chr16 GH16I088758 88758569 88760965 1.34 [{'connected_gene': 'PIEZO1', 'score': 18.01}, {'connected_gene': 'RNF166', 'score': 5.48}, {'connected_gene': 'LOC339059', 'score': 0.37}]
chr16 GH16I088801 88801397 88808082 2.23 [{'connected_gene': 'CDT1', 'score': 550.77}, {'connected_gene': 'GALNS', 'score': 12.16}, {'connected_gene': 'APRT', 'score': 10.26}, {'connected_gene': 'RNF166', 'score': 5.66}, {'connected_gene': 'SNAI3', 'score': 5.18}, {'connected_gene': 'CDH15', 'score': 4.53}, {'connected_gene': 'PIR39293', 'score': 0.77}]
chr16 GH16I088261 88261766 88266455 1.62 [{'connected_gene': 'BANP', 'score': 10.35}, {'connected_gene': 'LOC105371401', 'score': 4.98}, {'connected_gene': 'CYBA', 'score': 2.96}, {'connected_gene': 'ZC3H18', 'score': 2.3}, {'connected_gene': 'RNF166', 'score': 2.12}, {'connected_gene': 'GC16P088248', 'score': 0.37}, {'connected_gene': 'ENSG00000261273', 'score': 0.31}, {'connected_gene': 'ZNF469', 'score': 0.29}, {'connected_gene': 'ZFPM1', 'score': 0.09}]
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 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 GH16I088724 88724912 88725403 0.31 [{'connected_gene': 'CTU2', 'score': 10.45}, {'connected_gene': 'RNF166', 'score': 9.37}, {'connected_gene': 'PIR40551', 'score': 0.77}, {'connected_gene': 'LOC100289580', 'score': 0.44}, {'connected_gene': 'PIEZO1', 'score': 0.21}]
chr16 GH16I088546 88546066 88546363 0.22 [{'connected_gene': 'IL17C', 'score': 11.24}, {'connected_gene': 'RNF166', 'score': 5.06}, {'connected_gene': 'LOC100128882', 'score': 0.39}, {'connected_gene': 'ZC3H18-AS1', 'score': 0.34}]
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 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 GH16I088451 88451913 88457959 2.57 [{'connected_gene': 'ZFPM1', 'score': 560.96}, {'connected_gene': 'RNF166', 'score': 16.13}, {'connected_gene': 'ZCCHC14', 'score': 10.92}, {'connected_gene': 'ENSG00000260121', 'score': 9.88}, {'connected_gene': 'ZC3H18', 'score': 3.74}, {'connected_gene': 'SNAI3', 'score': 1.71}, {'connected_gene': 'MIR5189', 'score': 0.39}]
chr16 GH16I088633 88633153 88638092 1.62 [{'connected_gene': 'CYBA', 'score': 18.86}, {'connected_gene': 'SNORD68', 'score': 13.39}, {'connected_gene': 'RPL13', 'score': 11.61}, {'connected_gene': 'RNF166', 'score': 9.62}, {'connected_gene': 'ZC3H18', 'score': 5.27}, {'connected_gene': 'SNAI3', 'score': 3.58}, {'connected_gene': 'CBFA2T3', 'score': 2.19}, {'connected_gene': 'ZFPM1', 'score': 2.18}, {'connected_gene': 'ACSF3', 'score': 1.43}, {'connected_gene': 'IL17C', 'score': 0.77}]
chr16 GH16I088615 88615744 88621240 1.41 [{'connected_gene': 'CYBA', 'score': 28.24}, {'connected_gene': 'IL17C', 'score': 18.63}, {'connected_gene': 'ZC3H18', 'score': 14.68}, {'connected_gene': 'SNAI3', 'score': 13.58}, {'connected_gene': 'MVD', 'score': 12.16}, {'connected_gene': 'RNF166', 'score': 10.38}, {'connected_gene': 'ZFPM1', 'score': 3.36}]
chr16 GH16I088649 88649250 88653944 2.26 [{'connected_gene': 'CYBA', 'score': 560.7}, {'connected_gene': 'SNAI3-AS1', 'score': 14.53}, {'connected_gene': 'ACSF3', 'score': 13.77}, {'connected_gene': 'RPL13', 'score': 12.88}, {'connected_gene': 'SNORD68', 'score': 12.78}, {'connected_gene': 'ENSG00000268218', 'score': 11.96}, {'connected_gene': 'BANP', 'score': 11.25}, {'connected_gene': 'ENSG00000260121', 'score': 11.14}, {'connected_gene': 'ANKRD11', 'score': 10.89}, {'connected_gene': 'LOC101927863', 'score': 10.55}, {'connected_gene': 'RNF166', 'score': 8.7}, {'connected_gene': 'MVD', 'score': 5.02}]
chr16 GH16I088789 88789313 88795747 1.27 [{'connected_gene': 'RNF166', 'score': 6.99}, {'connected_gene': 'PIEZO1', 'score': 5.79}, {'connected_gene': 'CDT1', 'score': 0.39}]
chr16 GH16I088776 88776451 88776934 0.65 [{'connected_gene': 'RNF166', 'score': 5.46}, {'connected_gene': 'PIEZO1', 'score': 0.44}, {'connected_gene': 'LOC339059', 'score': 0.29}]
chr16 GH16I088765 88765899 88766809 0.43 [{'connected_gene': 'RNF166', 'score': 6.0}, {'connected_gene': 'PIEZO1', 'score': 0.37}, {'connected_gene': 'LOC339059', 'score': 0.34}]
chr16 GH16I088691 88691401 88693407 0.77 [{'connected_gene': 'RNF166', 'score': 14.85}, {'connected_gene': 'MVD', 'score': 12.47}, {'connected_gene': 'CYBA', 'score': 12.42}, {'connected_gene': 'SNAI3-AS1', 'score': 6.41}, {'connected_gene': 'PIEZO1', 'score': 6.37}, {'connected_gene': 'ENSG00000259813', 'score': 0.77}, {'connected_gene': 'PIR40856', 'score': 0.44}]
chr16 GH16I088726 88726810 88728437 0.57 [{'connected_gene': 'RNF166', 'score': 8.21}, {'connected_gene': 'CTU2', 'score': 7.97}, {'connected_gene': 'SNAI3-AS1', 'score': 6.04}, {'connected_gene': 'ENSG00000260121', 'score': 5.74}, {'connected_gene': 'LOC339059', 'score': 5.3}, {'connected_gene': 'LOC100289580', 'score': 0.77}, {'connected_gene': 'PIR40551', 'score': 0.44}, {'connected_gene': 'PIEZO1', 'score': 0.22}]
chr16 GH16I088698 88698126 88707536 2.57 [{'connected_gene': 'RNF166', 'score': 587.49}, {'connected_gene': 'CTU2', 'score': 562.62}, {'connected_gene': 'SNAI3-AS1', 'score': 11.37}, {'connected_gene': 'SNAI3', 'score': 10.2}, {'connected_gene': 'ENSG00000260121', 'score': 7.56}, {'connected_gene': 'PIEZO1', 'score': 7.16}, {'connected_gene': 'CDK10', 'score': 5.44}, {'connected_gene': 'ZC3H18', 'score': 4.71}, {'connected_gene': 'APRT', 'score': 4.68}, {'connected_gene': 'CYBA', 'score': 2.8}, {'connected_gene': 'CBFA2T3', 'score': 2.61}, {'connected_gene': 'ZFPM1', 'score': 2.52}, {'connected_gene': 'GALNS', 'score': 1.5}, {'connected_gene': 'ACSF3', 'score': 1.21}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]
chr16 GH16I088735 88735189 88736438 0.46 [{'connected_gene': 'RNF166', 'score': 11.25}, {'connected_gene': 'ENSG00000260121', 'score': 6.91}, {'connected_gene': 'SNAI3-AS1', 'score': 6.54}, {'connected_gene': 'CTU2', 'score': 5.37}, {'connected_gene': 'LOC100289580', 'score': 0.77}, {'connected_gene': 'ENSG00000260617', 'score': 0.44}, {'connected_gene': 'PIEZO1', 'score': 0.25}]
chr16 GH16I088737 88737173 88738175 1.22 [{'connected_gene': 'RNF166', 'score': 10.79}, {'connected_gene': 'SNAI3-AS1', 'score': 4.61}, {'connected_gene': 'ENSG00000260617', 'score': 0.77}, {'connected_gene': 'LOC100289580', 'score': 0.44}, {'connected_gene': 'PIEZO1', 'score': 0.25}]
chr16 GH16I088468 88468341 88474582 1.43 [{'connected_gene': 'RNF166', 'score': 8.69}, {'connected_gene': 'ZFPM1', 'score': 8.45}, {'connected_gene': 'LOC100128882', 'score': 5.5}, {'connected_gene': 'ZC3H18', 'score': 2.72}, {'connected_gene': 'APRT', 'score': 2.04}, {'connected_gene': 'CTU2', 'score': 1.67}, {'connected_gene': 'ZNF469', 'score': 1.49}, {'connected_gene': 'SNAI3', 'score': 1.45}, {'connected_gene': 'PIEZO1', 'score': 1.39}, {'connected_gene': 'MIR5189', 'score': 0.77}]
chr16 GH16I089328 89328943 89336965 1.38 [{'connected_gene': 'RNU6-430P', 'score': 12.42}, {'connected_gene': 'SPG7', 'score': 12.27}, {'connected_gene': 'DBNDD1', 'score': 11.41}, {'connected_gene': 'ANKRD11', 'score': 6.72}, {'connected_gene': 'LOC100287036', 'score': 6.15}, {'connected_gene': 'SPIRE2', 'score': 5.25}, {'connected_gene': 'RNF166', 'score': 4.91}, {'connected_gene': 'PIR55522', 'score': 0.28}]
chr16 GH16I088981 88981574 88984721 1.18 [{'connected_gene': 'ENSG00000259989', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 5.65}, {'connected_gene': 'RNF166', 'score': 5.65}, {'connected_gene': 'ACSF3', 'score': 5.2}, {'connected_gene': 'SNAI3-AS1', 'score': 5.08}, {'connected_gene': 'SPATA2L', 'score': 4.32}, {'connected_gene': 'SPIRE2', 'score': 4.32}, {'connected_gene': 'CBFA2T3', 'score': 3.76}]
chr16 GH16I087805 87805690 87811164 1.74 [{'connected_gene': 'ENSG00000260177', 'score': 550.77}, {'connected_gene': 'SLC7A5', 'score': 12.76}, {'connected_gene': 'LOC101928659', 'score': 11.58}, {'connected_gene': 'CTU2', 'score': 11.25}, {'connected_gene': 'ZCCHC14', 'score': 9.86}, {'connected_gene': 'RNF166', 'score': 4.84}, {'connected_gene': 'MIR6775', 'score': 0.31}]
chr16 GH16I088685 88685153 88688756 2.04 [{'connected_gene': 'PIR40856', 'score': 550.77}, {'connected_gene': 'SNAI3', 'score': 550.77}, {'connected_gene': 'SNORD68', 'score': 23.55}, {'connected_gene': 'ACSF3', 'score': 22.34}, {'connected_gene': 'RPL13', 'score': 22.16}, {'connected_gene': 'ANKRD11', 'score': 19.63}, {'connected_gene': 'BANP', 'score': 19.37}, {'connected_gene': 'SNAI3-AS1', 'score': 13.47}, {'connected_gene': 'RNF166', 'score': 12.5}, {'connected_gene': 'MVD', 'score': 12.37}, {'connected_gene': 'CYBA', 'score': 12.31}, {'connected_gene': 'ENSG00000268218', 'score': 11.96}, {'connected_gene': 'ENSG00000260121', 'score': 11.23}, {'connected_gene': 'LOC101927863', 'score': 10.55}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'APRT', 'score': 10.1}, {'connected_gene': 'CTU2', 'score': 7.32}, {'connected_gene': 'PIEZO1', 'score': 7.18}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]

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