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
ENST00000552983 [[94071150, 94071248], [94072544, 94072848], [94131975, 94132412]] [[94072550, 94072848], [94131975, 94132070]]
ENST00000549615 [[94071150, 94071248], [94072544, 94072848], [94184464, 94184532], [94240259, 94240303]] None
ENST00000332896 [[94071150, 94071248], [94072544, 94072848], [94243745, 94244512]] [[94072550, 94072848], [94243745, 94244047]]
ENST00000552033 [[94071152, 94071248], [94072544, 94072848], [94132179, 94132401]] [[94072550, 94072848], [94132179, 94132229]]
ENST00000548483 [[94071174, 94071248], [94072544, 94072848], [94287825, 94288503]] [[94072550, 94072848], [94287825, 94287893]]
ENST00000551065 [[94071174, 94071248], [94072544, 94072848], [94253094, 94253218], [94287825, 94288616]] [[94072550, 94072848], [94253094, 94253108]]
ENST00000542893 [[94071492, 94071804], [94072544, 94072848], [94243745, 94244532]] [[94072550, 94072848], [94243745, 94244047]]
ENST00000541813 [[94072550, 94072848], [94287825, 94287893]] [[94072550, 94072848], [94287825, 94287893]]
ENST00000609189 [[94209183, 94209257], [94243745, 94244443]] None
ENST00000550030 [[94220494, 94220592], [94243745, 94244471]] None
ENST00000547383 [[94127334, 94127430], [94131975, 94132412]] None
ENST00000550766 [[94208911, 94209024], [94209179, 94209257], [94209642, 94209885]] None
ENST00000548330 [[94242435, 94243118], [94243745, 94244532]] None
NM_001320101 [[94071146, 94071248], [94072544, 94072848], [94132179, 94132412]] [[94072550, 94072848], [94132179, 94132229]]
NM_003805 [[94071146, 94071248], [94072544, 94072848], [94243745, 94244532]] [[94072550, 94072848], [94243745, 94244047]]
NM_001320100 [[94071146, 94071248], [94072544, 94072848], [94287825, 94288616]] [[94072550, 94072848], [94287825, 94287893]]
NR_135147 [[94071146, 94071248], [94072544, 94072848], [94253094, 94253218], [94287825, 94288616]] None
NM_001320099 [[94071492, 94071804], [94072544, 94072848], [94243745, 94244532]] [[94072550, 94072848], [94243745, 94244047]]
NM_001330126 [[94072544, 94072848], [94131975, 94132412]] [[94072550, 94072848], [94131975, 94132070]]
Promoter
Chrom Start End Description
chr12 94071129 94071163 CAGE_peak_1_at_CRADD_5end
chr12 94071341 94071357 CAGE_peak_3_at_CRADD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I093682 93682894 93683643 0.46 [{'connected_gene': 'SOCS2', 'score': 11.14}, {'connected_gene': 'ENSG00000258365', 'score': 5.36}, {'connected_gene': 'CRADD', 'score': 0.44}, {'connected_gene': 'LOC101928731', 'score': 0.23}]
chr12 GH12I093689 93689245 93689394 0.52 [{'connected_gene': 'SOCS2', 'score': 11.14}, {'connected_gene': 'CRADD', 'score': 0.39}, {'connected_gene': 'LOC101928731', 'score': 0.25}]
chr12 GH12I093782 93782507 93788117 1.65 [{'connected_gene': 'SOCS2', 'score': 10.5}, {'connected_gene': 'CRADD', 'score': 5.4}, {'connected_gene': 'GC12P093788', 'score': 0.77}, {'connected_gene': 'GC12M093698', 'score': 0.28}]
chr12 GH12I093766 93766685 93768378 1.12 [{'connected_gene': 'SOCS2', 'score': 11.63}, {'connected_gene': 'GC12M093698', 'score': 0.34}, {'connected_gene': 'GC12P093788', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.16}]
chr12 GH12I093764 93764410 93764748 0.33 [{'connected_gene': 'SOCS2', 'score': 10.93}, {'connected_gene': 'GC12M093698', 'score': 0.37}, {'connected_gene': 'GC12P093788', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.17}]
chr12 GH12I093794 93794125 93794254 0.2 [{'connected_gene': 'SOCS2', 'score': 10.44}, {'connected_gene': 'GC12P093788', 'score': 0.44}, {'connected_gene': 'GC12P093832', 'score': 0.28}, {'connected_gene': 'CRADD', 'score': 0.13}]
chr12 GH12I093775 93775707 93781716 1.27 [{'connected_gene': 'SOCS2', 'score': 10.9}, {'connected_gene': 'GC12P093788', 'score': 0.39}, {'connected_gene': 'GC12M093698', 'score': 0.29}, {'connected_gene': 'CRADD', 'score': 0.15}]
chr12 GH12I093760 93760971 93763217 1.17 [{'connected_gene': 'SOCS2', 'score': 10.93}, {'connected_gene': 'ENSG00000271382', 'score': 10.46}, {'connected_gene': 'EEA1', 'score': 10.23}, {'connected_gene': 'GC12M093698', 'score': 0.37}, {'connected_gene': 'GC12P093788', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.18}]
chr12 GH12I093740 93740134 93744400 1.7 [{'connected_gene': 'SOCS2', 'score': 17.76}, {'connected_gene': 'SOCS2-AS1', 'score': 12.88}, {'connected_gene': 'ENSG00000258172', 'score': 10.57}, {'connected_gene': 'ENSG00000258365', 'score': 5.08}, {'connected_gene': 'NUDT4', 'score': 1.56}, {'connected_gene': 'LOC101928731', 'score': 0.77}, {'connected_gene': 'GC12M093698', 'score': 0.77}, {'connected_gene': 'CRADD', 'score': 0.21}]
chr12 GH12I093723 93723365 93723454 0.56 [{'connected_gene': 'SOCS2', 'score': 11.07}, {'connected_gene': 'SOCS2-AS1', 'score': 10.87}, {'connected_gene': 'LOC101928731', 'score': 0.39}, {'connected_gene': 'GC12M093698', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.25}]
chr12 GH12I093727 93727102 93728418 1.01 [{'connected_gene': 'SOCS2', 'score': 11.35}, {'connected_gene': 'ENSG00000258365', 'score': 4.76}, {'connected_gene': 'LOC101928731', 'score': 0.39}, {'connected_gene': 'GC12M093698', 'score': 0.37}, {'connected_gene': 'CRADD', 'score': 0.23}]
chr12 GH12I093447 93447253 93448636 0.6 [{'connected_gene': 'CRADD', 'score': 2.18}, {'connected_gene': 'UBE2N', 'score': 0.77}, {'connected_gene': 'ENSG00000200011', 'score': 0.39}, {'connected_gene': 'GC12M093461', 'score': 0.39}]
chr12 GH12I093701 93701207 93702034 0.69 [{'connected_gene': 'CRADD', 'score': 0.34}, {'connected_gene': 'LOC101928731', 'score': 0.28}, {'connected_gene': 'GC12M093698', 'score': 0.26}]
chr12 GH12I093676 93676477 93679275 2.08 [{'connected_gene': 'CRADD', 'score': 550.77}, {'connected_gene': 'ENSG00000258365', 'score': 13.65}, {'connected_gene': 'LOC101928731', 'score': 0.22}]
chr12 GH12I093706 93706399 93707766 0.91 [{'connected_gene': 'RBMS2P1', 'score': 5.76}, {'connected_gene': 'CRADD', 'score': 0.31}, {'connected_gene': 'LOC101928731', 'score': 0.29}, {'connected_gene': 'GC12M093698', 'score': 0.28}]
chr12 GH12I093713 93713927 93715045 0.63 [{'connected_gene': 'RBMS2P1', 'score': 5.05}, {'connected_gene': 'LOC101928731', 'score': 0.34}, {'connected_gene': 'GC12M093698', 'score': 0.29}, {'connected_gene': 'CRADD', 'score': 0.28}]
chr12 GH12I093737 93737536 93738681 1.12 [{'connected_gene': 'LOC101928731', 'score': 550.77}, {'connected_gene': 'GC12M093698', 'score': 0.44}, {'connected_gene': 'CRADD', 'score': 0.21}]
chr12 GH12I093739 93739001 93739200 0.83 [{'connected_gene': 'LOC101928731', 'score': 550.77}, {'connected_gene': 'GC12M093698', 'score': 0.44}, {'connected_gene': 'CRADD', 'score': 0.21}]
chr12 GH12I094123 94123202 94124800 0.86 [{'connected_gene': 'PLXNC1', 'score': 41.79}, {'connected_gene': 'CRADD', 'score': 1.42}, {'connected_gene': 'LOC441644', 'score': 0.37}, {'connected_gene': 'LOC105369913', 'score': 0.18}]
chr12 GH12I094147 94147605 94153478 2.46 [{'connected_gene': 'PLXNC1', 'score': 583.69}, {'connected_gene': 'GC12P094149', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 34.77}, {'connected_gene': 'NR2C1', 'score': 11.05}, {'connected_gene': 'ENSG00000258365', 'score': 10.55}, {'connected_gene': 'ENSG00000271382', 'score': 10.36}, {'connected_gene': 'CRADD', 'score': 1.2}, {'connected_gene': 'ENSG00000258035', 'score': 0.28}]
chr12 GH12I093788 93788505 93791521 1.07 [{'connected_gene': 'GC12P093788', 'score': 550.77}, {'connected_gene': 'SOCS2', 'score': 10.5}, {'connected_gene': 'GC12P093832', 'score': 0.26}, {'connected_gene': 'CRADD', 'score': 0.14}]
chr12 GH12I093662 93662773 93664337 0.93 [{'connected_gene': 'ENSG00000271382', 'score': 10.43}, {'connected_gene': 'CRADD', 'score': 0.39}, {'connected_gene': 'LOC642969', 'score': 0.34}]
chr12 GH12I093698 93698401 93700574 0.9 [{'connected_gene': 'ENSG00000258365', 'score': 5.42}, {'connected_gene': 'CRADD', 'score': 0.34}, {'connected_gene': 'LOC101928731', 'score': 0.28}, {'connected_gene': 'GC12M093698', 'score': 0.25}]
chr12 GH12I093817 93817785 93820134 0.89 [{'connected_gene': 'ENSG00000257512', 'score': 4.52}, {'connected_gene': 'GC12P093832', 'score': 0.39}, {'connected_gene': 'GC12P093788', 'score': 0.29}, {'connected_gene': 'CRADD', 'score': 0.11}]
chr12 GH12I093880 93880905 93881054 0.57 [{'connected_gene': 'GC12M093915', 'score': 0.28}, {'connected_gene': 'ENSG00000258303', 'score': 0.26}, {'connected_gene': 'CRADD', 'score': 0.08}]
chr12 GH12I093824 93824077 93824874 0.96 [{'connected_gene': 'GC12P093832', 'score': 0.44}, {'connected_gene': 'GC12P093788', 'score': 0.28}, {'connected_gene': 'CRADD', 'score': 0.11}]
chr12 GH12I093809 93809300 93811000 0.71 [{'connected_gene': 'GC12P093832', 'score': 0.34}, {'connected_gene': 'GC12P093788', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.12}]
chr12 GH12I093772 93772520 93773992 1.24 [{'connected_gene': 'GC12P093788', 'score': 0.37}, {'connected_gene': 'GC12M093698', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.15}]
chr12 GH12I093854 93854145 93854294 0.2 [{'connected_gene': 'ENSG00000258303', 'score': 8.32}, {'connected_gene': 'GC12M093915', 'score': 0.21}, {'connected_gene': 'CRADD', 'score': 0.1}]
chr12 GH12I093802 93802489 93806306 1.14 [{'connected_gene': 'ENSG00000258365', 'score': 5.18}, {'connected_gene': 'GC12P093788', 'score': 0.37}, {'connected_gene': 'GC12P093832', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.13}]
chr12 GH12I093881 93881105 93881152 0.59 [{'connected_gene': 'GC12M093915', 'score': 0.28}, {'connected_gene': 'ENSG00000258303', 'score': 0.26}, {'connected_gene': 'CRADD', 'score': 0.08}]
chr12 GH12I093812 93812665 93815212 1.12 [{'connected_gene': 'GC12P093832', 'score': 0.37}, {'connected_gene': 'GC12P093788', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.12}]
chr12 GH12I093851 93850936 93851627 0.43 [{'connected_gene': 'ENSG00000258303', 'score': 0.37}, {'connected_gene': 'GC12M093915', 'score': 0.2}, {'connected_gene': 'CRADD', 'score': 0.09}]
chr12 GH12I093748 93748522 93750499 0.63 [{'connected_gene': 'GC12M093698', 'score': 0.77}, {'connected_gene': 'GC12P093788', 'score': 0.28}, {'connected_gene': 'CRADD', 'score': 0.19}]
chr12 GH12I093826 93826245 93826514 0.51 [{'connected_gene': 'GC12P093832', 'score': 0.77}, {'connected_gene': 'GC12P093788', 'score': 0.28}, {'connected_gene': 'CRADD', 'score': 0.11}]
chr12 GH12I093811 93811201 93811400 0.4 [{'connected_gene': 'GC12P093832', 'score': 0.37}, {'connected_gene': 'GC12P093788', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.12}]
chr12 GH12I093853 93853805 93853954 0.31 [{'connected_gene': 'ENSG00000258303', 'score': 0.37}, {'connected_gene': 'GC12M093915', 'score': 0.21}, {'connected_gene': 'CRADD', 'score': 0.1}]
chr12 GH12I093883 93883385 93885133 0.52 [{'connected_gene': 'GC12M093915', 'score': 0.29}, {'connected_gene': 'ENSG00000258303', 'score': 0.25}, {'connected_gene': 'CRADD', 'score': 0.08}]
chr12 GH12I093758 93758985 93760106 1.21 [{'connected_gene': 'ENSG00000258365', 'score': 5.06}, {'connected_gene': 'GC12M093698', 'score': 0.39}, {'connected_gene': 'GC12P093788', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.18}]
chr12 GH12I093844 93844085 93845375 0.62 [{'connected_gene': 'ENSG00000258303', 'score': 0.44}, {'connected_gene': 'GC12M093915', 'score': 0.19}, {'connected_gene': 'CRADD', 'score': 0.1}]
chr12 GH12I093757 93757531 93758788 1.07 [{'connected_gene': 'ENSG00000258172', 'score': 10.58}, {'connected_gene': 'GC12M093698', 'score': 0.39}, {'connected_gene': 'GC12P093788', 'score': 0.29}, {'connected_gene': 'CRADD', 'score': 0.18}]
chr12 GH12I093879 93879521 93880856 0.8 [{'connected_gene': 'GC12M093915', 'score': 0.28}, {'connected_gene': 'ENSG00000258303', 'score': 0.26}, {'connected_gene': 'CRADD', 'score': 0.08}]
chr12 GH12I093807 93807979 93808098 0.47 [{'connected_gene': 'GC12P093788', 'score': 0.37}, {'connected_gene': 'GC12P093832', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.12}]
chr12 GH12I093752 93752345 93752554 0.31 [{'connected_gene': 'GC12M093698', 'score': 0.44}, {'connected_gene': 'GC12P093788', 'score': 0.28}, {'connected_gene': 'CRADD', 'score': 0.18}]
chr12 GH12I093850 93850605 93850774 0.2 [{'connected_gene': 'ENSG00000258303', 'score': 0.39}, {'connected_gene': 'GC12M093915', 'score': 0.2}, {'connected_gene': 'CRADD', 'score': 0.09}]
chr12 GH12I093806 93806470 93807770 0.31 [{'connected_gene': 'GC12P093788', 'score': 0.37}, {'connected_gene': 'GC12P093832', 'score': 0.34}, {'connected_gene': 'CRADD', 'score': 0.13}]
chr12 GH12I093825 93825045 93825898 0.92 [{'connected_gene': 'GC12P093832', 'score': 0.44}, {'connected_gene': 'GC12P093788', 'score': 0.28}, {'connected_gene': 'CRADD', 'score': 0.11}]
chr12 GH12I093796 93796598 93796691 0.25 [{'connected_gene': 'GC12P093788', 'score': 0.44}, {'connected_gene': 'GC12P093832', 'score': 0.29}, {'connected_gene': 'CRADD', 'score': 0.13}]
chr12 GH12I093857 93857400 93857601 0.38 [{'connected_gene': 'ENSG00000258303', 'score': 8.26}, {'connected_gene': 'GC12M093915', 'score': 0.22}, {'connected_gene': 'CRADD', 'score': 0.09}]
chr12 GH12I093847 93847139 93849399 1.34 [{'connected_gene': 'ENSG00000258303', 'score': 5.41}, {'connected_gene': 'GC12M093915', 'score': 0.2}, {'connected_gene': 'CRADD', 'score': 0.09}]
chr12 GH12I093858 93858245 93858394 0.43 [{'connected_gene': 'ENSG00000258303', 'score': 0.34}, {'connected_gene': 'GC12M093915', 'score': 0.22}, {'connected_gene': 'CRADD', 'score': 0.09}]
chr12 GH12I093411 93411828 93411972 0.34 [{'connected_gene': 'GC12M093281', 'score': 550.77}, {'connected_gene': 'UBE2N', 'score': 11.1}, {'connected_gene': 'CRADD', 'score': 1.25}, {'connected_gene': 'PIR47591', 'score': 0.39}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12 GH12I093886 93886235 93887109 0.91 [{'connected_gene': 'ENSG00000271382', 'score': 13.23}, {'connected_gene': 'CEP83', 'score': 10.31}, {'connected_gene': 'GC12M093915', 'score': 0.31}, {'connected_gene': 'ENSG00000258303', 'score': 0.23}, {'connected_gene': 'CRADD', 'score': 0.08}]
chr12 GH12I093373 93373145 93374830 1.59 [{'connected_gene': 'GC12P093373', 'score': 550.77}, {'connected_gene': 'ENSG00000257252', 'score': 25.19}, {'connected_gene': 'NUDT4', 'score': 17.02}, {'connected_gene': 'ENSG00000257512', 'score': 11.14}, {'connected_gene': 'CRADD', 'score': 1.33}, {'connected_gene': 'LOC643339', 'score': 0.77}, {'connected_gene': 'GC12M093281', 'score': 0.28}, {'connected_gene': 'GC12P093160', 'score': 0.08}]
chr12 GH12I093891 93891989 93896129 0.77 [{'connected_gene': 'GC12M093915', 'score': 0.34}, {'connected_gene': 'LOC105369911', 'score': 0.25}, {'connected_gene': 'ENSG00000258303', 'score': 0.22}, {'connected_gene': 'CRADD', 'score': 0.08}]
chr12 GH12I093707 93707985 93708134 0.76 [{'connected_gene': 'ENSG00000271382', 'score': 9.72}, {'connected_gene': 'LOC101928731', 'score': 0.31}, {'connected_gene': 'CRADD', 'score': 0.29}, {'connected_gene': 'GC12M093698', 'score': 0.28}]

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