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
ENST00000335765 [[26873724, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879686]] [[26874314, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879575]]
ENST00000484980 [[26873725, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26878820]] [[26874314, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26875658]]
ENST00000301032 [[26873725, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879649]] [[26874641, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879575]]
ENST00000470125 [[26873728, 26874867], [26875016, 26875119], [26875609, 26876417]] [[26874641, 26874867], [26875016, 26875119], [26875609, 26875658]]
ENST00000581945 [[26874541, 26874867], [26879355, 26879567]] [[26874820, 26874867], [26879355, 26879567]]
ENST00000444148 [[26874659, 26874867], [26875016, 26875119], [26875609, 26875674], [26879082, 26879110], [26879355, 26879627]] [[26874659, 26874867], [26875016, 26875119], [26875609, 26875674], [26879082, 26879110], [26879355, 26879575]]
ENST00000487844 [[26874705, 26874867], [26875016, 26875191]] None
ENST00000578434 [[26878842, 26879110], [26879355, 26879643]] None
NM_054035 [[26873724, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879646]] [[26874641, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879575]]
NM_005148 [[26873724, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879646]] [[26874314, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26875723], [26879355, 26879575]]
NM_001330166 [[26873724, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26875723], [26879082, 26879110], [26879355, 26879681]] [[26874314, 26874427], [26874694, 26874867], [26875016, 26875119], [26875609, 26875658]]
Promoter
Chrom Start End Description
chr17 26874715 26874734 CAGE_peak_4_at_UNC119_5end
chr17 26874766 26874781 CAGE_peak_5_at_UNC119_5end
chr17 26874802 26874820 CAGE_peak_3_at_UNC119_5end
chr17 26875065 26875079 CAGE_peak_2_at_UNC119_5end
chr17 26876257 26876262 CAGE_peak_15_at_UNC119_5end
chr17 26876300 26876327 CAGE_peak_6_at_UNC119_5end
chr17 26876350 26876359 CAGE_peak_13_at_UNC119_5end
chr17 26879600 26879654 CAGE_peak_1_at_UNC119_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I028615 28615858 28617246 0.31 [{'connected_gene': 'KIAA0100', 'score': 11.86}, {'connected_gene': 'PIGS', 'score': 11.41}, {'connected_gene': 'UNC119', 'score': 11.36}, {'connected_gene': 'SGK494', 'score': 0.77}, {'connected_gene': 'ENSG00000264044', 'score': 0.37}, {'connected_gene': 'SPAG5-AS1', 'score': 0.37}]
chr17 GH17I028566 28566793 28568033 1.11 [{'connected_gene': 'PIGS', 'score': 0.77}, {'connected_gene': 'UNC119', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.25}]
chr17 GH17I028563 28563235 28564300 0.52 [{'connected_gene': 'PIGS', 'score': 0.44}, {'connected_gene': 'UNC119', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.23}]
chr17 GH17I028570 28569643 28569792 0.49 [{'connected_gene': 'PIGS', 'score': 0.77}, {'connected_gene': 'UNC119', 'score': 0.37}, {'connected_gene': 'ENSG00000258472', 'score': 0.26}]
chr17 GH17I028569 28569947 28572680 2.01 [{'connected_gene': 'PIGS', 'score': 550.77}, {'connected_gene': 'ENSG00000265168', 'score': 550.77}, {'connected_gene': 'PROCA1', 'score': 21.34}, {'connected_gene': 'UNC119', 'score': 0.37}, {'connected_gene': 'ENSG00000258472', 'score': 0.26}]
chr17 GH17I028526 28526796 28529121 1.15 [{'connected_gene': 'UNC119', 'score': 11.93}, {'connected_gene': 'PIGS', 'score': 11.86}, {'connected_gene': 'FOXN1', 'score': 7.54}, {'connected_gene': 'ENSG00000265205', 'score': 5.71}, {'connected_gene': 'GC17P028538', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.17}]
chr17 GH17I028546 28546549 28554270 1.98 [{'connected_gene': 'UNC119', 'score': 557.93}, {'connected_gene': 'PIGS', 'score': 22.21}, {'connected_gene': 'ENSG00000264577', 'score': 15.63}, {'connected_gene': 'NUFIP2', 'score': 15.47}, {'connected_gene': 'LOC101927018', 'score': 13.56}, {'connected_gene': 'PHF12', 'score': 13.09}, {'connected_gene': 'ENSG00000265205', 'score': 12.41}, {'connected_gene': 'SDF2', 'score': 12.34}, {'connected_gene': 'FOXN1', 'score': 12.11}, {'connected_gene': 'SUPT6H', 'score': 12.09}, {'connected_gene': 'ALDOC', 'score': 11.68}, {'connected_gene': 'ENSG00000265908', 'score': 11.4}, {'connected_gene': 'ITM2BP1', 'score': 11.24}, {'connected_gene': 'RPL23A', 'score': 10.48}, {'connected_gene': 'GC17P028538', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.21}]
chr17 GH17I028486 28486979 28489710 0.6 [{'connected_gene': 'UNC119', 'score': 11.22}, {'connected_gene': 'PIGS', 'score': 11.19}, {'connected_gene': 'SLC46A1', 'score': 10.92}, {'connected_gene': 'SPAG5-AS1', 'score': 10.66}, {'connected_gene': 'SGK494', 'score': 10.65}, {'connected_gene': 'FOXN1', 'score': 5.33}, {'connected_gene': 'SLC13A2', 'score': 0.37}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17 GH17I028493 28493091 28493983 0.43 [{'connected_gene': 'UNC119', 'score': 11.69}, {'connected_gene': 'PIGS', 'score': 11.65}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'FOXN1', 'score': 10.75}, {'connected_gene': 'SLC46A1', 'score': 10.52}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17 GH17I028499 28499724 28500388 0.63 [{'connected_gene': 'UNC119', 'score': 11.54}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.81}, {'connected_gene': 'FOXN1', 'score': 6.18}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17 GH17I028502 28499003 28499152 0.46 [{'connected_gene': 'UNC119', 'score': 11.54}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 10.99}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.81}, {'connected_gene': 'FOXN1', 'score': 0.44}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17 GH17I028501 28499343 28499492 0.52 [{'connected_gene': 'UNC119', 'score': 11.54}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.81}, {'connected_gene': 'FOXN1', 'score': 4.83}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17 GH17I028500 28500953 28501306 0.95 [{'connected_gene': 'UNC119', 'score': 12.67}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.8}, {'connected_gene': 'FOXN1', 'score': 5.36}, {'connected_gene': 'SPAG5', 'score': 2.44}, {'connected_gene': 'SEBOX', 'score': 1.8}, {'connected_gene': 'TMEM97', 'score': 1.58}, {'connected_gene': 'RPL23A', 'score': 1.26}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17 GH17I028494 28494803 28494972 0.78 [{'connected_gene': 'UNC119', 'score': 11.69}, {'connected_gene': 'PIGS', 'score': 11.65}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'SLC46A1', 'score': 10.52}, {'connected_gene': 'FOXN1', 'score': 0.39}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17 GH17I028495 28494583 28494640 0.49 [{'connected_gene': 'UNC119', 'score': 11.69}, {'connected_gene': 'PIGS', 'score': 11.65}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'SLC46A1', 'score': 10.52}, {'connected_gene': 'FOXN1', 'score': 0.39}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17 GH17I028497 28497543 28498235 0.6 [{'connected_gene': 'UNC119', 'score': 11.7}, {'connected_gene': 'PIGS', 'score': 11.66}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'SLC46A1', 'score': 10.51}, {'connected_gene': 'FOXN1', 'score': 0.44}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17 GH17I028480 28480161 28481749 0.51 [{'connected_gene': 'FOXN1', 'score': 17.55}, {'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.78}, {'connected_gene': 'PIGS', 'score': 10.75}, {'connected_gene': 'TMEM97', 'score': 4.36}, {'connected_gene': 'SLC13A2', 'score': 0.44}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17 GH17I028483 28483541 28483854 0.58 [{'connected_gene': 'FOXN1', 'score': 11.68}, {'connected_gene': 'SLC46A1', 'score': 10.93}, {'connected_gene': 'UNC119', 'score': 10.8}, {'connected_gene': 'PIGS', 'score': 10.76}, {'connected_gene': 'PROCA1', 'score': 4.95}, {'connected_gene': 'SLC13A2', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17 GH17I028393 28393995 28399737 0.8 [{'connected_gene': 'POLDIP2', 'score': 23.36}, {'connected_gene': 'VTN', 'score': 11.72}, {'connected_gene': 'SARM1', 'score': 11.68}, {'connected_gene': 'TMEM199', 'score': 11.66}, {'connected_gene': 'TNFAIP1', 'score': 11.29}, {'connected_gene': 'IFT20', 'score': 11.29}, {'connected_gene': 'FOXN1', 'score': 10.81}, {'connected_gene': 'UNC119', 'score': 10.44}, {'connected_gene': 'PIGS', 'score': 10.43}, {'connected_gene': 'GC17M029117', 'score': 0.77}, {'connected_gene': 'SLC46A1', 'score': 0.39}, {'connected_gene': 'ENSG00000279532', 'score': 0.34}]
chr17 GH17I028936 28936513 28938096 1.46 [{'connected_gene': 'FLOT2', 'score': 27.21}, {'connected_gene': 'PHF12', 'score': 19.53}, {'connected_gene': 'DHRS13', 'score': 12.22}, {'connected_gene': 'TIAF1', 'score': 6.79}, {'connected_gene': 'NUFIP2', 'score': 3.61}, {'connected_gene': 'UNC119', 'score': 3.25}, {'connected_gene': 'SDF2', 'score': 2.48}, {'connected_gene': 'TAOK1', 'score': 1.73}, {'connected_gene': 'ENSG00000265908', 'score': 0.44}, {'connected_gene': 'LOC101927018', 'score': 0.39}]
chr17 GH17I028576 28576383 28578020 2.02 [{'connected_gene': 'ALDOC', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 24.64}, {'connected_gene': 'ENSG00000264577', 'score': 23.83}, {'connected_gene': 'PHF12', 'score': 21.98}, {'connected_gene': 'NUFIP2', 'score': 21.87}, {'connected_gene': 'TMEM199', 'score': 21.42}, {'connected_gene': 'SDF2', 'score': 14.28}, {'connected_gene': 'SPAG5-AS1', 'score': 12.02}, {'connected_gene': 'SGK494', 'score': 11.96}, {'connected_gene': 'RPL23A', 'score': 11.17}, {'connected_gene': 'KIAA0100', 'score': 11.17}, {'connected_gene': 'UNC119', 'score': 7.25}, {'connected_gene': 'ENSG00000265168', 'score': 0.77}, {'connected_gene': 'SPAG5', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.28}]
chr17 GH17I028863 28863697 28866975 1.69 [{'connected_gene': 'DHRS13', 'score': 42.9}, {'connected_gene': 'RPL23A', 'score': 21.98}, {'connected_gene': 'PROCA1', 'score': 19.61}, {'connected_gene': 'NUFIP2', 'score': 16.69}, {'connected_gene': 'SUPT6H', 'score': 16.46}, {'connected_gene': 'PHF12', 'score': 15.73}, {'connected_gene': 'ENSG00000264577', 'score': 15.32}, {'connected_gene': 'ENSG00000265908', 'score': 12.55}, {'connected_gene': 'FLOT2', 'score': 12.53}, {'connected_gene': 'TLCD1', 'score': 11.65}, {'connected_gene': 'NEK8', 'score': 11.65}, {'connected_gene': 'SNORD42A', 'score': 11.64}, {'connected_gene': 'SNORD4B', 'score': 11.64}, {'connected_gene': 'ENSG00000265205', 'score': 11.57}, {'connected_gene': 'SDF2', 'score': 11.21}, {'connected_gene': 'RAB34', 'score': 10.7}, {'connected_gene': 'SNORD42B', 'score': 10.7}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}, {'connected_gene': 'TMEM199', 'score': 9.93}, {'connected_gene': 'KIAA0100', 'score': 9.55}, {'connected_gene': 'TIAF1', 'score': 5.95}, {'connected_gene': 'UNC119', 'score': 5.18}, {'connected_gene': 'SPAG5', 'score': 1.29}, {'connected_gene': 'ENSG00000264066', 'score': 0.77}, {'connected_gene': 'ENSG00000264304', 'score': 0.31}]
chr17 GH17I028355 28355865 28358706 2.06 [{'connected_gene': 'TMEM199', 'score': 561.24}, {'connected_gene': 'POLDIP2', 'score': 550.77}, {'connected_gene': 'ENSG00000258924', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 28.82}, {'connected_gene': 'SARM1', 'score': 12.1}, {'connected_gene': 'ITM2BP1', 'score': 11.93}, {'connected_gene': 'PHF12', 'score': 11.83}, {'connected_gene': 'SLC46A1', 'score': 11.21}, {'connected_gene': 'NUFIP2', 'score': 10.75}, {'connected_gene': 'UNC119', 'score': 9.92}, {'connected_gene': 'PIGS', 'score': 9.92}, {'connected_gene': 'ENSG00000264577', 'score': 9.7}, {'connected_gene': 'VTN', 'score': 7.09}, {'connected_gene': 'TRAF4', 'score': 5.05}, {'connected_gene': 'PIR62966', 'score': 0.77}]
chr17 GH17I028581 28581202 28581800 0.38 [{'connected_gene': 'SGK494', 'score': 11.97}, {'connected_gene': 'UNC119', 'score': 11.36}, {'connected_gene': 'KIAA0100', 'score': 11.32}, {'connected_gene': 'ALDOC', 'score': 0.77}, {'connected_gene': 'SPAG5-AS1', 'score': 0.37}, {'connected_gene': 'SPAG5', 'score': 0.37}, {'connected_gene': 'ENSG00000258472', 'score': 0.29}]
chr17 GH17I028477 28477382 28477913 0.31 [{'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.6}, {'connected_gene': 'PIGS', 'score': 10.58}, {'connected_gene': 'SLC13A2', 'score': 0.77}, {'connected_gene': 'FOXN1', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17 GH17I028479 28479403 28479552 0.4 [{'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.61}, {'connected_gene': 'PIGS', 'score': 10.58}, {'connected_gene': 'SLC13A2', 'score': 0.44}, {'connected_gene': 'FOXN1', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17 GH17I028923 28923680 28928446 1.56 [{'connected_gene': 'LOC101927018', 'score': 550.77}, {'connected_gene': 'PHF12', 'score': 15.47}, {'connected_gene': 'FLOT2', 'score': 13.3}, {'connected_gene': 'DHRS13', 'score': 12.48}, {'connected_gene': 'FAM222B', 'score': 11.82}, {'connected_gene': 'ERAL1', 'score': 11.82}, {'connected_gene': 'SEZ6', 'score': 11.67}, {'connected_gene': 'SUPT6H', 'score': 11.35}, {'connected_gene': 'NUFIP2', 'score': 11.09}, {'connected_gene': 'SNORD4A', 'score': 10.91}, {'connected_gene': 'SNORD42A', 'score': 10.91}, {'connected_gene': 'SNORD4B', 'score': 10.91}, {'connected_gene': 'ENSG00000264044', 'score': 9.77}, {'connected_gene': 'ENSG00000264577', 'score': 9.73}, {'connected_gene': 'PROCA1', 'score': 7.03}, {'connected_gene': 'ANKRD13B', 'score': 4.53}, {'connected_gene': 'NEK8', 'score': 3.23}, {'connected_gene': 'UNC119', 'score': 1.71}, {'connected_gene': 'SDF2', 'score': 1.21}]
chr17 GH17I028602 28602575 28602917 0.38 [{'connected_gene': 'ENSG00000264608', 'score': 550.77}, {'connected_gene': 'TIAF1', 'score': 7.75}, {'connected_gene': 'PHF12', 'score': 4.51}, {'connected_gene': 'FLOT2', 'score': 1.79}, {'connected_gene': 'UNC119', 'score': 1.32}, {'connected_gene': 'SPAG5-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000265287', 'score': 0.44}, {'connected_gene': 'ENSG00000258472', 'score': 0.39}]
chr17 GH17I028634 28634523 28634672 0.57 [{'connected_gene': 'ENSG00000264044', 'score': 550.77}, {'connected_gene': 'SGK494', 'score': 12.28}, {'connected_gene': 'SPAG5-AS1', 'score': 12.22}, {'connected_gene': 'PROCA1', 'score': 10.99}, {'connected_gene': 'PIGS', 'score': 10.85}, {'connected_gene': 'UNC119', 'score': 10.81}, {'connected_gene': 'KIAA0100', 'score': 0.39}]

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