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
ENST00000547702 [[41086243, 41086394], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41366237]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41365315]]
ENST00000551424 [[41086263, 41086394], [41289751, 41289911], [41302158, 41302295], [41303874, 41303907], [41312440, 41312534]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312534]]
ENST00000551295 [[41086353, 41086394], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41466220]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41463837]]
ENST00000548005 [[41136152, 41136271], [41156897, 41157000], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316085]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316085]]
ENST00000552248 [[41136154, 41136271], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316100]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316100]]
ENST00000547849 [[41221860, 41222103], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41366237]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41365315]]
ENST00000552913 [[41221985, 41222103], [41289751, 41289911], [41302158, 41302295], [41303874, 41303907], [41312440, 41312564]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312564]]
ENST00000347616 [[41302155, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41464094]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41463837]]
ENST00000348761 [[41302160, 41302295], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41464067]] [[41302234, 41302295], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41463837]]
ENST00000550305 [[41398840, 41398912], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421720]] None
ENST00000360099 [[41302155, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41365315]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41365315]]
ENST00000548481 [[41422915, 41423021], [41455563, 41455686], [41463760, 41464043]] [[41422915, 41423021], [41455563, 41455631]]
NM_001256063 [[41086243, 41086394], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41366519]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41365315]]
NM_001843 [[41086243, 41086394], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41466214]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41463837]]
NM_001256064 [[41221739, 41222103], [41302158, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41366519]] [[41302234, 41302295], [41303874, 41303907], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41365235, 41365315]]
NM_175038 [[41302158, 41302295], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41466214]] [[41302234, 41302295], [41312440, 41312573], [41316057, 41316230], [41318358, 41318454], [41323597, 41323804], [41327262, 41327362], [41327498, 41327680], [41330582, 41330707], [41331371, 41331489], [41333136, 41333287], [41337398, 41337526], [41337796, 41337972], [41352915, 41353036], [41374710, 41374869], [41386921, 41387071], [41408029, 41408100], [41410483, 41410718], [41414138, 41414242], [41418951, 41419138], [41421658, 41421771], [41422864, 41423021], [41463760, 41463837]]
Promoter
Chrom Start End Description
chr12 41086215 41086288 CAGE_peak_1_at_CNTN1_5end
chr12 41086289 41086296 CAGE_peak_8_at_CNTN1_5end
chr12 41086297 41086308 CAGE_peak_3_at_CNTN1_5end
chr12 41136112 41136141 CAGE_peak_6_at_CNTN1_5end
chr12 41136144 41136158 CAGE_peak_14_at_CNTN1_5end
chr12 41221619 41221633 CAGE_peak_7_at_CNTN1_5end
chr12 41221634 41221645 CAGE_peak_15_at_CNTN1_5end
chr12 41221646 41221663 CAGE_peak_10_at_CNTN1_5end
chr12 41221684 41221704 CAGE_peak_5_at_CNTN1_5end
chr12 41221722 41221732 CAGE_peak_11_at_CNTN1_5end
chr12 41221734 41221749 CAGE_peak_9_at_CNTN1_5end
chr12 41221764 41221775 CAGE_peak_12_at_CNTN1_5end
chr12 41221794 41221805 CAGE_peak_13_at_CNTN1_5end
chr12 41221946 41221953 CAGE_peak_16_at_CNTN1_5end
chr12 41221975 41221996 CAGE_peak_2_at_CNTN1_5end
chr12 41222004 41222020 CAGE_peak_4_at_CNTN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I040959 40959099 40959228 0.2 [{'connected_gene': 'PDZRN4', 'score': 9.88}, {'connected_gene': 'ENSG00000274682', 'score': 0.37}, {'connected_gene': 'GC12P040828', 'score': 0.12}, {'connected_gene': 'CNTN1', 'score': 0.06}]
chr12 GH12I040820 40819802 40819894 0.49 [{'connected_gene': 'PDZRN4', 'score': 4.97}, {'connected_gene': 'GC12P040828', 'score': 0.44}, {'connected_gene': 'GC12P040785', 'score': 0.29}, {'connected_gene': 'CNTN1', 'score': 0.13}, {'connected_gene': 'GC12P040652', 'score': 0.1}]
chr12 GH12I040906 40906557 40908367 1.13 [{'connected_gene': 'CNTN1', 'score': 550.08}, {'connected_gene': 'PDZRN4', 'score': 4.13}, {'connected_gene': 'ENSG00000274682', 'score': 0.19}, {'connected_gene': 'GC12P040828', 'score': 0.18}]
chr12 GH12I040743 40743354 40743740 0.24 [{'connected_gene': 'CNTN1', 'score': 8.17}, {'connected_gene': 'LOC100420117', 'score': 0.39}, {'connected_gene': 'GC12P040785', 'score': 0.26}, {'connected_gene': 'GC12P040652', 'score': 0.16}]
chr12 GH12I040779 40779147 40780627 0.2 [{'connected_gene': 'CNTN1', 'score': 5.76}, {'connected_gene': 'GC12P040785', 'score': 0.44}, {'connected_gene': 'LOC100420117', 'score': 0.23}, {'connected_gene': 'GC12P040652', 'score': 0.13}]
chr12 GH12I040692 40692299 40693148 1.72 [{'connected_gene': 'CNTN1', 'score': 579.2}, {'connected_gene': 'GC12P040694', 'score': 550.77}, {'connected_gene': 'GC12P040693', 'score': 550.77}, {'connected_gene': 'LOC100420117', 'score': 0.28}, {'connected_gene': 'GC12P040652', 'score': 0.26}]
chr12 GH12I040697 40697839 40697968 0.66 [{'connected_gene': 'CNTN1', 'score': 0.44}, {'connected_gene': 'LOC100420117', 'score': 0.29}, {'connected_gene': 'GC12P040652', 'score': 0.25}]
chr12 GH12I040759 40759062 40764823 0.31 [{'connected_gene': 'CNTN1', 'score': 24.26}, {'connected_gene': 'GC12P040785', 'score': 0.34}, {'connected_gene': 'LOC100420117', 'score': 0.29}, {'connected_gene': 'GC12P040652', 'score': 0.14}]
chr12 GH12I040767 40767877 40772678 0.2 [{'connected_gene': 'CNTN1', 'score': 10.88}, {'connected_gene': 'GC12P040785', 'score': 0.37}, {'connected_gene': 'LOC100420117', 'score': 0.26}, {'connected_gene': 'GC12P040652', 'score': 0.13}]
chr12 GH12I040792 40792176 40793645 0.31 [{'connected_gene': 'CNTN1', 'score': 4.77}, {'connected_gene': 'GC12P040785', 'score': 0.44}, {'connected_gene': 'GC12P040828', 'score': 0.28}, {'connected_gene': 'GC12P040652', 'score': 0.11}]
chr12 GH12I040871 40871183 40871244 0.24 [{'connected_gene': 'CNTN1', 'score': 1.31}, {'connected_gene': 'GC12P040828', 'score': 0.26}, {'connected_gene': 'ENSG00000274682', 'score': 0.14}]
chr12 GH12I040829 40829377 40830488 0.56 [{'connected_gene': 'GC12P040828', 'score': 550.77}, {'connected_gene': 'CNTN1', 'score': 6.64}, {'connected_gene': 'PDZRN4', 'score': 4.26}, {'connected_gene': 'ENSG00000274682', 'score': 0.11}, {'connected_gene': 'GC12P040652', 'score': 0.1}]
chr12 GH12I040693 40693801 40694000 0.56 [{'connected_gene': 'GC12P040694', 'score': 550.77}, {'connected_gene': 'GC12P040693', 'score': 550.77}, {'connected_gene': 'CNTN1', 'score': 550.77}, {'connected_gene': 'LOC100420117', 'score': 0.29}, {'connected_gene': 'GC12P040652', 'score': 0.26}]
chr12 GH12I040694 40693419 40693548 0.65 [{'connected_gene': 'GC12P040694', 'score': 550.77}, {'connected_gene': 'GC12P040693', 'score': 550.77}, {'connected_gene': 'CNTN1', 'score': 550.77}, {'connected_gene': 'LOC100420117', 'score': 0.28}, {'connected_gene': 'GC12P040652', 'score': 0.26}]
chr12 GH12I040783 40783157 40785380 0.31 [{'connected_gene': 'GC12P040785', 'score': 550.77}, {'connected_gene': 'CNTN1', 'score': 5.06}, {'connected_gene': 'LOC100420117', 'score': 0.22}, {'connected_gene': 'GC12P040652', 'score': 0.12}]
chr12 GH12I040827 40827801 40828000 0.93 [{'connected_gene': 'GC12P040828', 'score': 550.77}, {'connected_gene': 'CNTN1', 'score': 550.12}, {'connected_gene': 'GC12P040785', 'score': 0.26}, {'connected_gene': 'GC12P040652', 'score': 0.1}]
chr12 GH12I040999 40999377 40999722 0.27 [{'connected_gene': 'ENSG00000274682', 'score': 0.34}, {'connected_gene': 'GC12M041064', 'score': 0.2}, {'connected_gene': 'CNTN1', 'score': 0.06}]
chr12 GH12I040819 40819519 40819708 0.56 [{'connected_gene': 'GC12P040828', 'score': 0.44}, {'connected_gene': 'GC12P040785', 'score': 0.29}, {'connected_gene': 'CNTN1', 'score': 0.13}, {'connected_gene': 'GC12P040652', 'score': 0.1}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.