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
ENST00000381341 [[15731301, 15731410], [15731777, 15732073], [15735268, 15735320], [15735613, 15735677], [15736857, 15736887], [15737498, 15737595], [15739792, 15739840], [15742671, 15742755], [15743315, 15743399], [15743937, 15744014], [15744560, 15744633], [15746073, 15746150], [15746273, 15746388], [15747298, 15747437], [15753347, 15753408], [15757367, 15757466], [15758304, 15758394], [15760331, 15760520], [15761188, 15761240], [15763559, 15763706], [15767177, 15767269], [15768568, 15768641], [15768761, 15768834], [15768920, 15768963], [15769725, 15769821], [15770113, 15770234], [15770899, 15771235]] [[15732057, 15732073], [15735268, 15735320], [15735613, 15735677], [15736857, 15736887], [15737498, 15737595], [15739792, 15739840], [15742671, 15742755], [15743315, 15743399], [15743937, 15744014], [15744560, 15744633], [15746073, 15746150], [15746273, 15746388], [15747298, 15747437], [15753347, 15753408], [15757367, 15757466], [15758304, 15758394], [15760331, 15760520], [15761188, 15761240], [15763559, 15763706], [15767177, 15767269], [15768568, 15768641], [15768761, 15768834], [15768920, 15768963], [15769725, 15769821], [15770113, 15770234], [15770899, 15771030]]
ENST00000434671 [[15731606, 15732073], [15735268, 15735301]] [[15732057, 15732073], [15735268, 15735301]]
ENST00000233084 [[15731769, 15732073], [15735268, 15735320], [15735613, 15735677], [15736857, 15736887], [15737498, 15737595], [15739792, 15739840], [15742671, 15742755], [15743315, 15743399], [15743937, 15744014], [15744560, 15744633], [15746073, 15746150], [15746273, 15746388], [15747298, 15747437], [15753347, 15753408], [15757367, 15757466], [15758304, 15758394], [15760331, 15760520], [15761188, 15761240], [15763559, 15763706], [15767177, 15767269], [15768568, 15768641], [15768761, 15768834], [15768920, 15768963], [15769725, 15769821], [15770113, 15770234], [15770899, 15771225]] [[15732057, 15732073], [15735268, 15735320], [15735613, 15735677], [15736857, 15736887], [15737498, 15737595], [15739792, 15739840], [15742671, 15742755], [15743315, 15743399], [15743937, 15744014], [15744560, 15744633], [15746073, 15746150], [15746273, 15746388], [15747298, 15747437], [15753347, 15753408], [15757367, 15757466], [15758304, 15758394], [15760331, 15760520], [15761188, 15761240], [15763559, 15763706], [15767177, 15767269], [15768568, 15768641], [15768761, 15768834], [15768920, 15768963], [15769725, 15769821], [15770113, 15770234], [15770899, 15771030]]
ENST00000459706 [[15757428, 15757466], [15758304, 15758394], [15760331, 15760520], [15761188, 15761511]] None
ENST00000470674 [[15761215, 15761240], [15763559, 15763706], [15767177, 15767269], [15768568, 15768860]] None
ENST00000478695 [[15763656, 15763706], [15767177, 15767681]] None
NM_004939 [[15731744, 15732073], [15735268, 15735320], [15735613, 15735677], [15736857, 15736887], [15737498, 15737595], [15739792, 15739840], [15742671, 15742755], [15743315, 15743399], [15743937, 15744014], [15744560, 15744633], [15746073, 15746150], [15746273, 15746388], [15747298, 15747437], [15753347, 15753408], [15757367, 15757466], [15758304, 15758394], [15760331, 15760520], [15761188, 15761240], [15763559, 15763706], [15767177, 15767269], [15768568, 15768641], [15768761, 15768834], [15768920, 15768963], [15769725, 15769821], [15770113, 15770234], [15770899, 15771235]] [[15732057, 15732073], [15735268, 15735320], [15735613, 15735677], [15736857, 15736887], [15737498, 15737595], [15739792, 15739840], [15742671, 15742755], [15743315, 15743399], [15743937, 15744014], [15744560, 15744633], [15746073, 15746150], [15746273, 15746388], [15747298, 15747437], [15753347, 15753408], [15757367, 15757466], [15758304, 15758394], [15760331, 15760520], [15761188, 15761240], [15763559, 15763706], [15767177, 15767269], [15768568, 15768641], [15768761, 15768834], [15768920, 15768963], [15769725, 15769821], [15770113, 15770234], [15770899, 15771030]]
Promoter
Chrom Start End Description
chr2 15731289 15731298 CAGE_peak_6_at_DDX1_5end
chr2 15731978 15732050 CAGE_peak_1_at_DDX1_5end
chr2 15763588 15763602 CAGE_peak_2_at_DDX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I015984 15984381 15984519 0.41 [{'connected_gene': 'NBAS', 'score': 16.67}, {'connected_gene': 'MYCN', 'score': 14.26}, {'connected_gene': 'RN7SL104P', 'score': 11.67}, {'connected_gene': 'MYCNOS', 'score': 11.64}, {'connected_gene': 'DDX1', 'score': 2.12}, {'connected_gene': 'GACAT3', 'score': 0.2}]
chr2 GH02I015888 15888041 15891900 0.83 [{'connected_gene': 'NBAS', 'score': 22.86}, {'connected_gene': 'DDX1', 'score': 4.18}, {'connected_gene': 'MYCN', 'score': 1.72}, {'connected_gene': 'GC02P015895', 'score': 0.44}, {'connected_gene': 'GC02P015869', 'score': 0.34}]
chr2 GH02I015874 15874336 15877444 0.78 [{'connected_gene': 'NBAS', 'score': 11.2}, {'connected_gene': 'DDX1', 'score': 1.72}, {'connected_gene': 'MYCN', 'score': 1.55}, {'connected_gene': 'GC02P015869', 'score': 0.44}, {'connected_gene': 'GC02P015895', 'score': 0.37}]
chr2 GH02I015594 15594167 15594276 0.33 [{'connected_gene': 'NBAS', 'score': 30.28}, {'connected_gene': 'DDX1', 'score': 11.44}, {'connected_gene': 'MYCN', 'score': 2.76}, {'connected_gene': 'GC02P015590', 'score': 0.77}, {'connected_gene': 'ENSG00000224194', 'score': 0.17}]
chr2 GH02I015908 15908098 15908471 0.22 [{'connected_gene': 'NBAS', 'score': 14.02}, {'connected_gene': 'DDX1', 'score': 1.34}, {'connected_gene': 'ENSG00000238371', 'score': 0.77}, {'connected_gene': 'MYCNUT', 'score': 0.39}, {'connected_gene': 'GC02P015895', 'score': 0.39}]
chr2 GH02I015430 15430503 15430993 0.46 [{'connected_gene': 'NBAS', 'score': 20.58}, {'connected_gene': 'DDX1', 'score': 1.88}, {'connected_gene': 'RPS26P18', 'score': 0.29}, {'connected_gene': 'GC02P015475', 'score': 0.26}]
chr2 GH02I015454 15454440 15454702 0.22 [{'connected_gene': 'NBAS', 'score': 17.91}, {'connected_gene': 'DDX1', 'score': 1.75}, {'connected_gene': 'GC02P015475', 'score': 0.34}, {'connected_gene': 'RPS26P18', 'score': 0.22}]
chr2 GH02I015191 15191886 15192253 0.55 [{'connected_gene': 'NBAS', 'score': 15.44}, {'connected_gene': 'DDX1', 'score': 2.14}, {'connected_gene': 'GC02P015258', 'score': 0.2}, {'connected_gene': 'GC02P014982', 'score': 0.08}]
chr2 GH02I015305 15305136 15305472 0.39 [{'connected_gene': 'NBAS', 'score': 11.53}, {'connected_gene': 'DDX1', 'score': 1.86}, {'connected_gene': 'GC02M015275', 'score': 0.31}, {'connected_gene': 'GC02M015398', 'score': 0.16}]
chr2 GH02I015558 15558601 15563008 2.7 [{'connected_gene': 'NBAS', 'score': 572.89}, {'connected_gene': 'LOC105373440', 'score': 550.77}, {'connected_gene': 'DDX1', 'score': 1.99}, {'connected_gene': 'GC02P015496', 'score': 0.21}]
chr2 GH02I015983 15983565 15984146 0.4 [{'connected_gene': 'MYCN', 'score': 13.7}, {'connected_gene': 'RN7SL104P', 'score': 11.67}, {'connected_gene': 'MYCNOS', 'score': 11.64}, {'connected_gene': 'NBAS', 'score': 5.58}, {'connected_gene': 'DDX1', 'score': 1.34}, {'connected_gene': 'GACAT3', 'score': 0.2}]
chr2 GH02I015938 15938202 15944800 2.45 [{'connected_gene': 'MYCN', 'score': 557.46}, {'connected_gene': 'MYCNOS', 'score': 550.77}, {'connected_gene': 'GC02P015940', 'score': 550.77}, {'connected_gene': 'GC02P015941', 'score': 550.77}, {'connected_gene': 'DDX1', 'score': 12.54}, {'connected_gene': 'NBAS', 'score': 10.81}]
chr2 GH02I015643 15643865 15644254 0.36 [{'connected_gene': 'DDX1', 'score': 22.49}, {'connected_gene': 'NBAS', 'score': 21.05}, {'connected_gene': 'MYCN', 'score': 2.05}, {'connected_gene': 'ENSG00000224194', 'score': 0.28}]
chr2 GH02I015673 15673053 15676055 1.14 [{'connected_gene': 'DDX1', 'score': 5.03}, {'connected_gene': 'NBAS', 'score': 2.91}, {'connected_gene': 'ENSG00000224194', 'score': 0.44}]
chr2 GH02I015703 15703694 15705063 0.58 [{'connected_gene': 'DDX1', 'score': 5.0}, {'connected_gene': 'LINC01804', 'score': 0.39}, {'connected_gene': 'ENSG00000237326', 'score': 0.14}]
chr2 GH02I015591 15591040 15593494 2.11 [{'connected_gene': 'DDX1', 'score': 597.26}, {'connected_gene': 'GC02P015590', 'score': 550.77}, {'connected_gene': 'ENSG00000224194', 'score': 0.17}]
chr2 GH02I015644 15642689 15643165 0.6 [{'connected_gene': 'DDX1', 'score': 7.88}, {'connected_gene': 'ENSG00000224194', 'score': 0.28}]
chr2 GH02I015642 15642537 15642686 0.62 [{'connected_gene': 'DDX1', 'score': 33.22}, {'connected_gene': 'ENSG00000224194', 'score': 0.28}]
chr2 GH02I015639 15639883 15641445 0.56 [{'connected_gene': 'DDX1', 'score': 12.39}, {'connected_gene': 'ENSG00000224194', 'score': 0.28}]
chr2 GH02I015634 15634711 15635773 0.43 [{'connected_gene': 'DDX1', 'score': 52.07}, {'connected_gene': 'ENSG00000224194', 'score': 0.25}]
chr2 GH02I015668 15668601 15668800 0.31 [{'connected_gene': 'LINC01804', 'score': 11.9}, {'connected_gene': 'DDX1', 'score': 4.85}, {'connected_gene': 'ENSG00000224194', 'score': 0.39}]
chr2 GH02I015257 15257083 15257418 0.24 [{'connected_gene': 'GC02P015258', 'score': 550.77}, {'connected_gene': 'NBAS', 'score': 15.75}, {'connected_gene': 'DDX1', 'score': 1.58}, {'connected_gene': 'GC02P014982', 'score': 0.06}]
chr2 GH02I015637 15637357 15637546 0.71 [{'connected_gene': 'ENSG00000224194', 'score': 0.26}, {'connected_gene': 'DDX1', 'score': 0.25}]
chr2 GH02I015641 15641879 15641966 0.74 [{'connected_gene': 'ENSG00000224194', 'score': 0.28}, {'connected_gene': 'DDX1', 'score': 0.23}]

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