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
ENST00000468045 [[27353623, 27354376], [27354539, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27357497]] None
ENST00000260643 [[27353623, 27354376], [27354539, 27354699], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357543]] [[27354281, 27354376], [27354539, 27354699], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357289]]
ENST00000444452 [[27353632, 27354376], [27354539, 27354699], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356522], [27357154, 27357483]] [[27356504, 27356522], [27357154, 27357289]]
ENST00000406567 [[27353642, 27354376], [27354539, 27354699], [27354877, 27354950], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357480]] [[27354281, 27354376], [27354539, 27354699], [27354877, 27354950], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357289]]
ENST00000456259 [[27353658, 27354376], [27354541, 27354699], [27354877, 27354950], [27355097, 27355253]] [[27354234, 27354376], [27354541, 27354699], [27354877, 27354950], [27355097, 27355253]]
ENST00000430533 [[27354026, 27354376], [27354877, 27354950], [27355097, 27355271], [27355470, 27355488]] [[27354322, 27354376], [27354877, 27354950], [27355097, 27355271], [27355470, 27355488]]
ENST00000441451 [[27354307, 27354376], [27354539, 27354699], [27354877, 27354950], [27355071, 27355120]] [[27354930, 27354950], [27355071, 27355120]]
ENST00000474802 [[27355378, 27355595], [27355710, 27355791], [27355984, 27356589], [27357154, 27357534]] None
ENST00000416802 [[27355991, 27356205], [27357154, 27357504]] None
NR_138479 [[27353623, 27354376], [27354539, 27354699], [27354877, 27354950], [27355071, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357543]] None
NM_013388 [[27353623, 27354376], [27354539, 27354699], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357543]] [[27354281, 27354376], [27354539, 27354699], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357289]]
NM_001330486 [[27353623, 27354376], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357543]] [[27354322, 27354376], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357289]]
NM_001330485 [[27353623, 27354376], [27354539, 27354699], [27354877, 27354950], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357543]] [[27354281, 27354376], [27354539, 27354699], [27354877, 27354950], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357289]]
NM_001330487 [[27353623, 27354376], [27354877, 27354950], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357543]] [[27354322, 27354376], [27354877, 27354950], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356589], [27357154, 27357289]]
NM_001330484 [[27353623, 27354376], [27354539, 27354699], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356522], [27357154, 27357543]] [[27354281, 27354376], [27354539, 27354699], [27354877, 27354950], [27355097, 27355271], [27355470, 27355595], [27355710, 27355791], [27355984, 27356205], [27356399, 27356508]]
Promoter
Chrom Start End Description
chr2 27357446 27357475 CAGE_peak_2_at_PREB_5end
chr2 27357479 27357524 CAGE_peak_1_at_PREB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027263 27263000 27263201 1.54 [{'connected_gene': 'SLC30A3', 'score': 550.39}, {'connected_gene': 'UCN', 'score': 11.77}, {'connected_gene': 'MPV17', 'score': 11.73}, {'connected_gene': 'CAD', 'score': 11.05}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.6}, {'connected_gene': 'TCF23', 'score': 10.57}, {'connected_gene': 'GTF3C2', 'score': 10.56}, {'connected_gene': 'PRR30', 'score': 10.56}, {'connected_gene': 'PREB', 'score': 10.31}, {'connected_gene': 'DNAJC5G', 'score': 0.39}]
chr2 GH02I027264 27263207 27263266 0.99 [{'connected_gene': 'SLC30A3', 'score': 550.39}, {'connected_gene': 'UCN', 'score': 11.77}, {'connected_gene': 'MPV17', 'score': 11.73}, {'connected_gene': 'CAD', 'score': 11.05}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.6}, {'connected_gene': 'TCF23', 'score': 10.57}, {'connected_gene': 'GTF3C2', 'score': 10.56}, {'connected_gene': 'PRR30', 'score': 10.56}, {'connected_gene': 'PREB', 'score': 10.31}, {'connected_gene': 'CENPA', 'score': 5.39}, {'connected_gene': 'DNAJC5G', 'score': 0.39}]
chr2 GH02I026887 26887001 26887501 0.74 [{'connected_gene': 'DPYSL5', 'score': 11.79}, {'connected_gene': 'MAPRE3', 'score': 10.57}, {'connected_gene': 'LOC105374337', 'score': 10.14}, {'connected_gene': 'LOC100129724', 'score': 9.64}, {'connected_gene': 'PREB', 'score': 9.13}, {'connected_gene': 'PIR42524', 'score': 0.37}]
chr2 GH02I026900 26900836 26901741 0.63 [{'connected_gene': 'DPYSL5', 'score': 11.08}, {'connected_gene': 'MAPRE3', 'score': 10.46}, {'connected_gene': 'LOC100129724', 'score': 10.26}, {'connected_gene': 'LOC105374337', 'score': 9.96}, {'connected_gene': 'AGBL5-AS1', 'score': 9.68}, {'connected_gene': 'AGBL5', 'score': 9.68}, {'connected_gene': 'PREB', 'score': 9.02}, {'connected_gene': 'PIR42524', 'score': 0.77}]
chr2 GH02I027169 27169799 27172737 1.18 [{'connected_gene': 'ATRAID', 'score': 22.62}, {'connected_gene': 'GTF3C2', 'score': 16.38}, {'connected_gene': 'TCF23', 'score': 12.35}, {'connected_gene': 'PRR30', 'score': 12.31}, {'connected_gene': 'PREB', 'score': 11.7}, {'connected_gene': 'SLC5A6', 'score': 11.36}, {'connected_gene': 'ABHD1', 'score': 11.18}, {'connected_gene': 'CAD', 'score': 10.98}, {'connected_gene': 'SLC30A3', 'score': 10.51}, {'connected_gene': 'DNAJC5G', 'score': 10.51}, {'connected_gene': 'CGREF1', 'score': 10.47}, {'connected_gene': 'KHK', 'score': 10.42}, {'connected_gene': 'EMILIN1', 'score': 10.4}, {'connected_gene': 'MPV17', 'score': 9.72}, {'connected_gene': 'GTF3C2-AS1', 'score': 9.45}, {'connected_gene': 'KRTCAP3', 'score': 4.73}, {'connected_gene': 'ENSG00000236099', 'score': 0.39}, {'connected_gene': 'GC02P027132', 'score': 0.28}]
chr2 GH02I027320 27320562 27324793 2.58 [{'connected_gene': 'MPV17', 'score': 550.77}, {'connected_gene': 'PIR47141', 'score': 550.77}, {'connected_gene': 'ATRAID', 'score': 24.88}, {'connected_gene': 'DNAJC5G', 'score': 11.07}, {'connected_gene': 'SLC30A3', 'score': 10.89}, {'connected_gene': 'SNX17', 'score': 10.76}, {'connected_gene': 'ZNF513', 'score': 10.38}, {'connected_gene': 'SLC5A6', 'score': 9.85}, {'connected_gene': 'EMILIN1', 'score': 9.66}, {'connected_gene': 'KHK', 'score': 9.66}, {'connected_gene': 'PREB', 'score': 9.32}, {'connected_gene': 'GTF3C2', 'score': 9.04}]
chr2 GH02I027353 27353349 27354981 1.11 [{'connected_gene': 'MPV17', 'score': 11.27}, {'connected_gene': 'ZNF513', 'score': 11.24}, {'connected_gene': 'UCN', 'score': 11.21}, {'connected_gene': 'TRIM54', 'score': 11.15}, {'connected_gene': 'NRBP1', 'score': 10.41}, {'connected_gene': 'KRTCAP3', 'score': 10.04}, {'connected_gene': 'IFT172', 'score': 9.99}, {'connected_gene': 'ATRAID', 'score': 9.76}, {'connected_gene': 'SLC5A6', 'score': 9.76}, {'connected_gene': 'PREB', 'score': 9.28}, {'connected_gene': 'ZNF512', 'score': 9.05}, {'connected_gene': 'CCDC121', 'score': 8.49}, {'connected_gene': 'GPN1', 'score': 8.49}, {'connected_gene': 'MAPRE3', 'score': 4.17}, {'connected_gene': 'GTF3C2', 'score': 0.77}, {'connected_gene': 'LOC105374363', 'score': 0.77}, {'connected_gene': 'GTF3C2-AS1', 'score': 0.37}]
chr2 GH02I027085 27085082 27089890 2.25 [{'connected_gene': 'KHK', 'score': 587.0}, {'connected_gene': 'GC02M027085', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 22.72}, {'connected_gene': 'ATRAID', 'score': 20.71}, {'connected_gene': 'GTF3C2', 'score': 17.03}, {'connected_gene': 'NRBP1', 'score': 16.42}, {'connected_gene': 'TMEM214', 'score': 12.86}, {'connected_gene': 'CAD', 'score': 12.44}, {'connected_gene': 'LOC105374363', 'score': 12.16}, {'connected_gene': 'GPN1', 'score': 12.0}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'ABHD1', 'score': 10.98}, {'connected_gene': 'CGREF1', 'score': 10.8}, {'connected_gene': 'PREB', 'score': 10.77}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.41}, {'connected_gene': 'EIF2B4', 'score': 9.71}, {'connected_gene': 'LOC100129724', 'score': 9.69}, {'connected_gene': 'MAPRE3', 'score': 9.62}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'EMILIN1', 'score': 0.44}, {'connected_gene': 'GC02P027111', 'score': 0.34}]
chr2 GH02I027090 27090630 27097200 1.44 [{'connected_gene': 'KHK', 'score': 36.65}, {'connected_gene': 'ABHD1', 'score': 11.1}, {'connected_gene': 'CGREF1', 'score': 11.1}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'CAD', 'score': 10.92}, {'connected_gene': 'PRR30', 'score': 10.9}, {'connected_gene': 'TCF23', 'score': 10.87}, {'connected_gene': 'PREB', 'score': 10.8}, {'connected_gene': 'AGBL5-AS1', 'score': 10.44}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.42}, {'connected_gene': 'AGBL5', 'score': 10.41}, {'connected_gene': 'SLC30A3', 'score': 10.2}, {'connected_gene': 'DNAJC5G', 'score': 10.2}, {'connected_gene': 'MAPRE3', 'score': 9.96}, {'connected_gene': 'LOC100129724', 'score': 9.81}, {'connected_gene': 'SNX17', 'score': 8.97}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'GC02P027111', 'score': 0.37}]
chr2 GH02I026883 26883033 26885180 0.38 [{'connected_gene': 'KHK', 'score': 18.51}, {'connected_gene': 'DPYSL5', 'score': 11.79}, {'connected_gene': 'MAPRE3', 'score': 10.64}, {'connected_gene': 'LOC105374337', 'score': 10.46}, {'connected_gene': 'LOC100129724', 'score': 10.08}, {'connected_gene': 'PREB', 'score': 9.13}, {'connected_gene': 'PIR42524', 'score': 0.34}]
chr2 GH02I026907 26907225 26909752 0.38 [{'connected_gene': 'KHK', 'score': 21.08}, {'connected_gene': 'DPYSL5', 'score': 11.96}, {'connected_gene': 'MAPRE3', 'score': 11.06}, {'connected_gene': 'PREB', 'score': 9.06}, {'connected_gene': 'PIR42524', 'score': 0.77}]
chr2 GH02I026911 26911789 26914831 0.8 [{'connected_gene': 'KHK', 'score': 21.47}, {'connected_gene': 'DPYSL5', 'score': 11.96}, {'connected_gene': 'MAPRE3', 'score': 11.07}, {'connected_gene': 'PREB', 'score': 9.06}, {'connected_gene': 'PIR42524', 'score': 0.44}]
chr2 GH02I026915 26915900 26917595 0.43 [{'connected_gene': 'KHK', 'score': 32.6}, {'connected_gene': 'DPYSL5', 'score': 11.96}, {'connected_gene': 'MAPRE3', 'score': 11.08}, {'connected_gene': 'LOC100129724', 'score': 11.0}, {'connected_gene': 'LOC105374337', 'score': 10.19}, {'connected_gene': 'EMILIN1', 'score': 9.68}, {'connected_gene': 'PREB', 'score': 9.26}, {'connected_gene': 'PIR42524', 'score': 0.39}]
chr2 GH02I026889 26889938 26894009 0.46 [{'connected_gene': 'KHK', 'score': 17.59}, {'connected_gene': 'GTF3C2', 'score': 12.12}, {'connected_gene': 'CAD', 'score': 12.06}, {'connected_gene': 'DPYSL5', 'score': 11.78}, {'connected_gene': 'GPN1', 'score': 11.18}, {'connected_gene': 'EIF2B4', 'score': 11.03}, {'connected_gene': 'MAPRE3', 'score': 10.58}, {'connected_gene': 'LOC100129724', 'score': 10.29}, {'connected_gene': 'LOC105374337', 'score': 10.21}, {'connected_gene': 'KCNK3', 'score': 9.94}, {'connected_gene': 'LOC105374363', 'score': 9.75}, {'connected_gene': 'AGBL5', 'score': 9.71}, {'connected_gene': 'AGBL5-AS1', 'score': 9.71}, {'connected_gene': 'PREB', 'score': 9.13}, {'connected_gene': 'PIR42524', 'score': 0.39}]
chr2 GH02I027139 27139400 27139459 0.5 [{'connected_gene': 'PRR30', 'score': 550.77}, {'connected_gene': 'PREB', 'score': 0.77}, {'connected_gene': 'GC02P027132', 'score': 0.44}]
chr2 GH02I027164 27164804 27165908 0.62 [{'connected_gene': 'GTF3C2', 'score': 15.37}, {'connected_gene': 'PRR30', 'score': 12.24}, {'connected_gene': 'PREB', 'score': 11.75}, {'connected_gene': 'ATRAID', 'score': 11.36}, {'connected_gene': 'SLC5A6', 'score': 11.36}, {'connected_gene': 'ABHD1', 'score': 11.29}, {'connected_gene': 'CGREF1', 'score': 11.08}, {'connected_gene': 'CAD', 'score': 10.87}, {'connected_gene': 'KHK', 'score': 10.63}, {'connected_gene': 'EMILIN1', 'score': 10.61}, {'connected_gene': 'TRIM54', 'score': 9.95}, {'connected_gene': 'UCN', 'score': 9.84}, {'connected_gene': 'MPV17', 'score': 9.82}, {'connected_gene': 'GTF3C2-AS1', 'score': 9.51}, {'connected_gene': 'MAPRE3', 'score': 9.19}, {'connected_gene': 'DPYSL5', 'score': 9.15}, {'connected_gene': 'ENSG00000236099', 'score': 0.44}, {'connected_gene': 'GC02P027132', 'score': 0.29}]
chr2 GH02I026763 26763370 26766267 2.22 [{'connected_gene': 'CENPA', 'score': 550.77}, {'connected_gene': 'SLC35F6', 'score': 550.77}, {'connected_gene': 'CAD', 'score': 15.87}, {'connected_gene': 'LOC105374363', 'score': 14.38}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'ATRAID', 'score': 12.01}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'TMEM214', 'score': 11.88}, {'connected_gene': 'KHK', 'score': 11.77}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'HADHA', 'score': 10.3}, {'connected_gene': 'DPYSL5', 'score': 10.22}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'OST4', 'score': 10.06}, {'connected_gene': 'MAPRE3', 'score': 9.31}, {'connected_gene': 'PREB', 'score': 9.16}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.21}]
chr2 GH02I027132 27132617 27135632 1.99 [{'connected_gene': 'PREB', 'score': 556.42}, {'connected_gene': 'GC02P027132', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 5.79}, {'connected_gene': 'ATRAID', 'score': 4.91}]

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