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
ENST00000367463 [[149068463, 149068813], [149208121, 149208165], [149262414, 149262570], [149275007, 149275087], [149285545, 149285699], [149340274, 149340372], [149342459, 149342617], [149394968, 149398126]] [[149068566, 149068813], [149208121, 149208165], [149262414, 149262570], [149275007, 149275087], [149285545, 149285699], [149340274, 149340372], [149342459, 149342617], [149394968, 149395252]]
ENST00000473631 [[149275042, 149275087], [149285545, 149285699], [149326438, 149326724]] None
ENST00000466695 [[149387311, 149387390], [149394968, 149395386]] None
NM_005715 [[149068270, 149068813], [149208121, 149208165], [149262414, 149262570], [149275007, 149275087], [149285545, 149285699], [149340274, 149340372], [149342459, 149342617], [149394968, 149398126]] [[149068566, 149068813], [149208121, 149208165], [149262414, 149262570], [149275007, 149275087], [149285545, 149285699], [149340274, 149340372], [149342459, 149342617], [149394968, 149395252]]
Promoter
Chrom Start End Description
chr6 149068135 149068151 CAGE_peak_2_at_UST_5end
chr6 149068153 149068210 CAGE_peak_1_at_UST_5end
chr6 149068322 149068345 CAGE_peak_9_at_UST_5end
chr6 149068544 149068559 CAGE_peak_5_at_UST_5end
chr6 149387191 149387204 CAGE_peak_3_at_UST_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I149028 149028800 149029201 1.24 [{'connected_gene': 'LATS1', 'score': 11.27}, {'connected_gene': 'RPS18P9', 'score': 9.98}, {'connected_gene': 'LOC105378047', 'score': 0.77}, {'connected_gene': 'UST-AS1', 'score': 0.21}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I148818 148817761 148820144 0.91 [{'connected_gene': 'LATS1', 'score': 11.66}, {'connected_gene': 'UST', 'score': 0.19}, {'connected_gene': 'GC06P148933', 'score': 0.14}]
chr6 GH06I149026 149026160 149026966 0.8 [{'connected_gene': 'LATS1', 'score': 11.66}, {'connected_gene': 'RNU7-3P', 'score': 10.72}, {'connected_gene': 'PPIL4', 'score': 10.71}, {'connected_gene': 'UST-AS1', 'score': 10.14}, {'connected_gene': 'TAB2', 'score': 5.66}, {'connected_gene': 'LOC105378047', 'score': 0.44}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I149011 149011511 149012796 1.29 [{'connected_gene': 'LATS1', 'score': 21.18}, {'connected_gene': 'UST-AS1', 'score': 11.19}, {'connected_gene': 'RPS18P9', 'score': 9.99}, {'connected_gene': 'ENSG00000202343', 'score': 9.98}, {'connected_gene': 'TAB2', 'score': 6.07}, {'connected_gene': 'LOC105378047', 'score': 0.34}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I148972 148972112 148973101 1.05 [{'connected_gene': 'PPIL4', 'score': 9.41}, {'connected_gene': 'RNU7-3P', 'score': 9.41}, {'connected_gene': 'UST', 'score': 6.98}, {'connected_gene': 'UST-AS1', 'score': 0.44}, {'connected_gene': 'LOC105378047', 'score': 0.21}]
chr6 GH06I149074 149074147 149078060 1.3 [{'connected_gene': 'LOC105378047', 'score': 11.72}, {'connected_gene': 'LATS1', 'score': 11.66}, {'connected_gene': 'RNU7-3P', 'score': 11.02}, {'connected_gene': 'PPIL4', 'score': 11.02}, {'connected_gene': 'TAB2-AS1', 'score': 10.67}, {'connected_gene': 'ULBP2', 'score': 4.55}, {'connected_gene': 'LOC105378046', 'score': 0.31}, {'connected_gene': 'GC06M149112', 'score': 0.28}, {'connected_gene': 'UST', 'score': 0.05}]
chr6 GH06I149058 149058820 149063205 1.61 [{'connected_gene': 'LOC105378047', 'score': 12.24}, {'connected_gene': 'PPIL4', 'score': 11.73}, {'connected_gene': 'LATS1', 'score': 11.66}, {'connected_gene': 'RNU7-3P', 'score': 10.29}, {'connected_gene': 'TAB2-AS1', 'score': 9.87}, {'connected_gene': 'TAB2', 'score': 4.88}, {'connected_gene': 'ZC3H12D', 'score': 1.62}, {'connected_gene': 'LOC105378046', 'score': 0.39}, {'connected_gene': 'GC06M149112', 'score': 0.23}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I149053 149053780 149055199 0.89 [{'connected_gene': 'LOC105378047', 'score': 12.03}, {'connected_gene': 'TAB2-AS1', 'score': 10.39}, {'connected_gene': 'PPIL4', 'score': 10.29}, {'connected_gene': 'UST-AS1', 'score': 9.32}, {'connected_gene': 'LOC105378046', 'score': 0.77}, {'connected_gene': 'GC06M149112', 'score': 0.22}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I149063 149063415 149067526 1.22 [{'connected_gene': 'LOC105378047', 'score': 12.34}, {'connected_gene': 'RNU7-3P', 'score': 10.99}, {'connected_gene': 'PPIL4', 'score': 10.98}, {'connected_gene': 'TAB2-AS1', 'score': 10.76}, {'connected_gene': 'LOC105378046', 'score': 0.37}, {'connected_gene': 'GC06M149112', 'score': 0.25}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I149029 149029742 149034511 1.58 [{'connected_gene': 'LOC105378047', 'score': 550.77}, {'connected_gene': 'RNU7-3P', 'score': 10.89}, {'connected_gene': 'PPIL4', 'score': 10.88}, {'connected_gene': 'UST-AS1', 'score': 10.02}, {'connected_gene': 'TAB2-AS1', 'score': 10.0}, {'connected_gene': 'ENSG00000202343', 'score': 9.98}, {'connected_gene': 'GINM1', 'score': 9.16}, {'connected_gene': 'TAB2', 'score': 6.67}, {'connected_gene': 'ZC3H12D', 'score': 2.22}, {'connected_gene': 'SUMO4', 'score': 1.35}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I148745 148745845 148749000 2.37 [{'connected_gene': 'UST', 'score': 554.99}, {'connected_gene': 'LATS1', 'score': 12.67}, {'connected_gene': 'KATNA1', 'score': 12.24}, {'connected_gene': 'PPIL4', 'score': 9.81}, {'connected_gene': 'GC06P148933', 'score': 0.09}]
chr6 GH06I148519 148519831 148526884 1.14 [{'connected_gene': 'UST', 'score': 5.25}, {'connected_gene': 'GC06M148489', 'score': 0.29}, {'connected_gene': 'GC06M148568', 'score': 0.26}, {'connected_gene': 'SASH1', 'score': 0.05}]
chr6 GH06I148266 148266817 148269510 0.97 [{'connected_gene': 'UST', 'score': 1.49}, {'connected_gene': 'GC06P148279', 'score': 0.39}, {'connected_gene': 'ENSG00000224658', 'score': 0.37}, {'connected_gene': 'SASH1', 'score': 0.19}]
chr6 GH06I148506 148506629 148511546 1.81 [{'connected_gene': 'UST', 'score': 1.41}, {'connected_gene': 'GC06M148489', 'score': 0.37}, {'connected_gene': 'GC06M148568', 'score': 0.22}, {'connected_gene': 'SASH1', 'score': 0.06}]
chr6 GH06I148512 148512262 148515288 1.12 [{'connected_gene': 'UST', 'score': 1.38}, {'connected_gene': 'GC06M148489', 'score': 0.34}, {'connected_gene': 'GC06M148568', 'score': 0.23}, {'connected_gene': 'SASH1', 'score': 0.05}]
chr6 GH06I148983 148983165 148984917 0.38 [{'connected_gene': 'UST', 'score': 8.24}, {'connected_gene': 'UST-AS1', 'score': 0.37}, {'connected_gene': 'LOC105378047', 'score': 0.25}]
chr6 GH06I148979 148979003 148980176 0.87 [{'connected_gene': 'UST', 'score': 7.73}, {'connected_gene': 'UST-AS1', 'score': 0.39}, {'connected_gene': 'LOC105378047', 'score': 0.23}]
chr6 GH06I148740 148740105 148740254 0.2 [{'connected_gene': 'UST', 'score': 0.44}, {'connected_gene': 'GC06P148683', 'score': 0.22}]
chr6 GH06I148772 148772025 148772174 0.58 [{'connected_gene': 'UST', 'score': 0.31}, {'connected_gene': 'GC06P148933', 'score': 0.1}]
chr6 GH06I148743 148743690 148744299 0.31 [{'connected_gene': 'UST', 'score': 0.77}, {'connected_gene': 'GC06P148683', 'score': 0.21}]
chr6 GH06I148817 148817465 148817614 0.4 [{'connected_gene': 'UST', 'score': 0.19}, {'connected_gene': 'GC06P148933', 'score': 0.13}]
chr6 GH06I149036 149036182 149038251 0.92 [{'connected_gene': 'RNU7-3P', 'score': 10.9}, {'connected_gene': 'PPIL4', 'score': 10.88}, {'connected_gene': 'TAB2-AS1', 'score': 9.91}, {'connected_gene': 'UST-AS1', 'score': 9.13}, {'connected_gene': 'GINM1', 'score': 9.11}, {'connected_gene': 'LOC105378047', 'score': 0.77}, {'connected_gene': 'LOC105378046', 'score': 0.39}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I149043 149043565 149047787 1.5 [{'connected_gene': 'RNU7-3P', 'score': 11.11}, {'connected_gene': 'PPIL4', 'score': 11.1}, {'connected_gene': 'LOC105378046', 'score': 0.77}, {'connected_gene': 'LOC105378047', 'score': 0.39}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I148967 148967147 148970979 0.94 [{'connected_gene': 'RNU7-3P', 'score': 9.41}, {'connected_gene': 'PPIL4', 'score': 9.41}, {'connected_gene': 'UST', 'score': 6.78}, {'connected_gene': 'UST-AS1', 'score': 0.77}, {'connected_gene': 'LOC105378047', 'score': 0.21}]
chr6 GH06I148700 148700298 148701600 0.96 [{'connected_gene': 'UST-AS1', 'score': 10.28}, {'connected_gene': 'SASH1', 'score': 1.65}, {'connected_gene': 'GC06P148683', 'score': 0.37}, {'connected_gene': 'UST', 'score': 0.25}]
chr6 GH06I149013 149013557 149016319 1.11 [{'connected_gene': 'UST-AS1', 'score': 11.17}, {'connected_gene': 'TAB2', 'score': 6.3}, {'connected_gene': 'LOC105378047', 'score': 0.37}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I148988 148988745 148990374 0.2 [{'connected_gene': 'UST-AS1', 'score': 11.43}, {'connected_gene': 'TAB2', 'score': 4.9}, {'connected_gene': 'LOC105378047', 'score': 0.26}, {'connected_gene': 'UST', 'score': 0.07}]
chr6 GH06I149023 149023285 149023576 0.33 [{'connected_gene': 'UST-AS1', 'score': 10.16}, {'connected_gene': 'LOC105378047', 'score': 0.44}, {'connected_gene': 'UST', 'score': 0.06}]
chr6 GH06I148997 148997805 149000737 1.02 [{'connected_gene': 'UST-AS1', 'score': 11.47}, {'connected_gene': 'LOC105378047', 'score': 0.29}, {'connected_gene': 'UST', 'score': 0.07}]
chr6 GH06I148598 148598037 148601064 0.6 [{'connected_gene': 'UST-AS1', 'score': 11.09}, {'connected_gene': 'UST', 'score': 7.75}, {'connected_gene': 'SNRPEP6', 'score': 0.29}, {'connected_gene': 'GC06M148648', 'score': 0.25}]
chr6 GH06I148592 148592369 148594123 0.31 [{'connected_gene': 'UST-AS1', 'score': 11.13}, {'connected_gene': 'UST', 'score': 5.83}, {'connected_gene': 'SNRPEP6', 'score': 0.31}, {'connected_gene': 'GC06M148648', 'score': 0.22}]
chr6 GH06I148867 148867667 148870745 0.8 [{'connected_gene': 'UST-AS1', 'score': 10.04}, {'connected_gene': 'GC06P148933', 'score': 0.21}, {'connected_gene': 'UST', 'score': 0.13}]
chr6 GH06I148697 148697592 148697963 0.22 [{'connected_gene': 'UST-AS1', 'score': 10.75}, {'connected_gene': 'GC06P148683', 'score': 0.39}, {'connected_gene': 'UST', 'score': 0.25}]
chr6 GH06I148769 148769625 148769794 0.72 [{'connected_gene': 'UST-AS1', 'score': 10.25}, {'connected_gene': 'UST', 'score': 0.34}, {'connected_gene': 'GC06P148933', 'score': 0.1}]
chr6 GH06I148924 148924000 148925354 0.31 [{'connected_gene': 'UST-AS1', 'score': 11.66}, {'connected_gene': 'GC06P148933', 'score': 0.44}, {'connected_gene': 'UST', 'score': 0.1}]
chr6 GH06I148838 148838005 148838154 0.65 [{'connected_gene': 'UST-AS1', 'score': 9.94}, {'connected_gene': 'UST', 'score': 0.16}, {'connected_gene': 'GC06P148933', 'score': 0.15}]
chr6 GH06I148770 148770601 148770800 0.58 [{'connected_gene': 'UST-AS1', 'score': 10.25}, {'connected_gene': 'UST', 'score': 0.34}, {'connected_gene': 'GC06P148933', 'score': 0.1}]
chr6 GH06I148775 148775665 148777540 0.77 [{'connected_gene': 'UST-AS1', 'score': 10.64}, {'connected_gene': 'UST', 'score': 0.31}, {'connected_gene': 'GC06P148933', 'score': 0.1}]
chr6 GH06I148869 148866666 148867407 0.69 [{'connected_gene': 'UST-AS1', 'score': 10.04}, {'connected_gene': 'GC06P148933', 'score': 0.2}, {'connected_gene': 'UST', 'score': 0.13}]
chr6 GH06I148764 148764765 148764914 0.58 [{'connected_gene': 'UST-AS1', 'score': 10.57}, {'connected_gene': 'UST', 'score': 5.8}, {'connected_gene': 'GC06P148933', 'score': 0.1}]
chr6 GH06I148713 148713634 148714587 0.31 [{'connected_gene': 'UST-AS1', 'score': 9.9}, {'connected_gene': 'UST', 'score': 5.38}, {'connected_gene': 'GC06P148683', 'score': 0.29}]
chr6 GH06I148830 148830106 148831753 0.76 [{'connected_gene': 'UST-AS1', 'score': 11.07}, {'connected_gene': 'UST', 'score': 0.18}, {'connected_gene': 'GC06P148933', 'score': 0.15}]
chr6 GH06I148836 148836165 148836474 0.54 [{'connected_gene': 'UST-AS1', 'score': 10.31}, {'connected_gene': 'UST', 'score': 0.17}, {'connected_gene': 'GC06P148933', 'score': 0.15}]
chr6 GH06I148780 148780833 148782399 0.89 [{'connected_gene': 'UST-AS1', 'score': 9.76}, {'connected_gene': 'UST', 'score': 0.29}, {'connected_gene': 'GC06P148933', 'score': 0.1}]
chr6 GH06I148868 148866402 148866414 0.31 [{'connected_gene': 'UST-AS1', 'score': 10.04}, {'connected_gene': 'GC06P148933', 'score': 0.2}, {'connected_gene': 'UST', 'score': 0.13}]
chr6 GH06I148757 148757705 148763068 1.63 [{'connected_gene': 'UST-AS1', 'score': 10.71}, {'connected_gene': 'UST', 'score': 1.98}, {'connected_gene': 'GC06P148933', 'score': 0.09}]
chr6 GH06I148719 148719920 148721453 0.2 [{'connected_gene': 'UST-AS1', 'score': 10.01}, {'connected_gene': 'UST', 'score': 0.31}, {'connected_gene': 'GC06P148683', 'score': 0.28}]
chr6 GH06I148963 148963865 148963974 0.31 [{'connected_gene': 'UST-AS1', 'score': 550.77}, {'connected_gene': 'GC06P148933', 'score': 0.29}, {'connected_gene': 'UST', 'score': 0.08}]
chr6 GH06I148888 148888637 148891344 0.57 [{'connected_gene': 'UST-AS1', 'score': 10.92}, {'connected_gene': 'GC06P148933', 'score': 0.26}, {'connected_gene': 'UST', 'score': 0.11}]
chr6 GH06I148866 148866465 148866614 0.38 [{'connected_gene': 'UST-AS1', 'score': 10.04}, {'connected_gene': 'GC06P148933', 'score': 0.2}, {'connected_gene': 'UST', 'score': 0.13}]
chr6 GH06I148874 148874805 148874954 0.8 [{'connected_gene': 'UST-AS1', 'score': 10.59}, {'connected_gene': 'GC06P148933', 'score': 0.22}, {'connected_gene': 'UST', 'score': 0.13}]
chr6 GH06I148763 148763395 148763432 0.4 [{'connected_gene': 'UST-AS1', 'score': 10.57}, {'connected_gene': 'UST', 'score': 0.37}, {'connected_gene': 'GC06P148933', 'score': 0.09}]
chr6 GH06I148708 148708093 148709646 0.2 [{'connected_gene': 'UST-AS1', 'score': 9.98}, {'connected_gene': 'GC06P148683', 'score': 0.31}, {'connected_gene': 'UST', 'score': 0.28}]
chr6 GH06I148723 148723262 148724274 0.38 [{'connected_gene': 'UST-AS1', 'score': 10.23}, {'connected_gene': 'UST', 'score': 0.34}, {'connected_gene': 'GC06P148683', 'score': 0.26}]
chr6 GH06I148853 148853765 148855639 0.52 [{'connected_gene': 'GC06P148933', 'score': 0.18}, {'connected_gene': 'UST', 'score': 0.14}]
chr6 GH06I148856 148856585 148856734 0.6 [{'connected_gene': 'GC06P148933', 'score': 0.18}, {'connected_gene': 'UST', 'score': 0.14}]
chr6 GH06I148693 148693817 148694842 0.31 [{'connected_gene': 'GC06P148683', 'score': 0.39}, {'connected_gene': 'UST', 'score': 0.23}]
chr6 GH06I148886 148886845 148887596 0.2 [{'connected_gene': 'GC06P148933', 'score': 0.25}, {'connected_gene': 'UST', 'score': 0.11}]
chr6 GH06I148857 148857425 148858498 0.38 [{'connected_gene': 'GC06P148933', 'score': 0.18}, {'connected_gene': 'UST', 'score': 0.14}]
chr6 GH06I148885 148884459 148884832 0.38 [{'connected_gene': 'GC06P148933', 'score': 0.25}, {'connected_gene': 'UST', 'score': 0.12}]
chr6 GH06I148847 148847485 148847634 0.2 [{'connected_gene': 'GC06P148933', 'score': 0.17}, {'connected_gene': 'UST', 'score': 0.15}]
chr6 GH06I148884 148884866 148886816 0.8 [{'connected_gene': 'GC06P148933', 'score': 0.25}, {'connected_gene': 'UST', 'score': 0.12}]
chr6 GH06I148943 148943244 148944073 0.2 [{'connected_gene': 'GC06P148933', 'score': 0.39}, {'connected_gene': 'UST-AS1', 'score': 0.34}, {'connected_gene': 'UST', 'score': 0.08}]
chr6 GH06I148947 148947601 148948474 0.97 [{'connected_gene': 'GC06P148933', 'score': 0.39}, {'connected_gene': 'UST-AS1', 'score': 0.37}, {'connected_gene': 'UST', 'score': 0.08}]
chr6 GH06I148935 148935085 148935234 0.2 [{'connected_gene': 'GC06P148933', 'score': 550.77}, {'connected_gene': 'UST-AS1', 'score': 11.25}, {'connected_gene': 'UST', 'score': 0.09}]

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