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
ENST00000429277 [[88428205, 88428327], [88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495825]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
ENST00000352360 [[88428205, 88428327], [88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88469668, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495825]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88469668, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
ENST00000458213 [[88428205, 88428327], [88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495825]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
ENST00000263066 [[88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495822]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
ENST00000361373 [[88428427, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88466287, 88466476], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495825]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88466287, 88466476], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
ENST00000372066 [[88428369, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459798]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459131]]
ENST00000372056 [[88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459810]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459131]]
ENST00000310944 [[88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88459034, 88459810]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88459034, 88459131]]
ENST00000542786 [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459800]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88445434, 88445441]]
ENST00000477489 [[88478486, 88478604], [88485893, 88486208]] None
NM_001171610 [[88428205, 88428327], [88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495825]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
NM_001080114 [[88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495825]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
NM_007078 [[88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88466287, 88466476], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88495825]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88466287, 88466476], [88469661, 88469807], [88476083, 88476528], [88477720, 88477901], [88478483, 88478604], [88485893, 88486009], [88492643, 88492733]]
NM_001080116 [[88428320, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459810]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88445434, 88445457], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459131]]
NM_001080115 [[88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88459034, 88459810]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88451652, 88451822], [88452291, 88452328], [88459034, 88459131]]
NM_001171611 [[88428425, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459810]] [[88428448, 88428541], [88439123, 88439275], [88439838, 88439914], [88441192, 88441560], [88446825, 88447029], [88451652, 88451822], [88452291, 88452328], [88459034, 88459131]]
Promoter
Chrom Start End Description
chr10 88426533 88426556 CAGE_peak_2_at_LDB3_5end
chr10 88428165 88428171 CAGE_peak_3_at_LDB3_5end
chr10 88428227 88428300 CAGE_peak_1_at_LDB3_5end
chr10 88428320 88428321 CAGE_peak_6_at_LDB3_5end
chr10 88428400 88428435 CAGE_peak_4_at_LDB3_5end
chr10 88428476 88428490 CAGE_peak_7_at_LDB3_5end
chr10 88428502 88428513 CAGE_peak_5_at_LDB3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I086676 86676445 86678066 0.43 [{'connected_gene': 'OPN4', 'score': 12.0}, {'connected_gene': 'LDB3', 'score': 4.63}, {'connected_gene': 'GC10M086714', 'score': 0.28}]
chr10 GH10I086683 86683114 86689569 1.56 [{'connected_gene': 'BMPR1A', 'score': 8.09}, {'connected_gene': 'OPN4', 'score': 5.78}, {'connected_gene': 'LDB3', 'score': 0.37}, {'connected_gene': 'GC10M086714', 'score': 0.31}]
chr10 GH10I086705 86705369 86707880 0.64 [{'connected_gene': 'BMPR1A', 'score': 12.21}, {'connected_gene': 'GC10M086714', 'score': 0.44}, {'connected_gene': 'LDB3', 'score': 0.28}]
chr10 GH10I086721 86721178 86721822 0.66 [{'connected_gene': 'BMPR1A', 'score': 8.96}, {'connected_gene': 'ENSG00000272631', 'score': 6.3}, {'connected_gene': 'GC10M086714', 'score': 0.44}, {'connected_gene': 'LDB3', 'score': 0.23}]
chr10 GH10I086731 86731281 86734898 0.86 [{'connected_gene': 'BMPR1A', 'score': 26.91}, {'connected_gene': 'ENSG00000272631', 'score': 6.25}, {'connected_gene': 'GC10M086714', 'score': 0.37}, {'connected_gene': 'LDB3', 'score': 0.2}]
chr10 GH10I086726 86726796 86728616 0.8 [{'connected_gene': 'BMPR1A', 'score': 24.25}, {'connected_gene': 'LDB3', 'score': 12.06}, {'connected_gene': 'GC10M086714', 'score': 0.39}]
chr10 GH10I086696 86696326 86697240 0.31 [{'connected_gene': 'BMPR1A', 'score': 6.49}, {'connected_gene': 'GC10M086714', 'score': 0.37}, {'connected_gene': 'LDB3', 'score': 0.29}]
chr10 GH10I086710 86710070 86713000 1.77 [{'connected_gene': 'BMPR1A', 'score': 8.85}, {'connected_gene': 'LDB3', 'score': 1.86}, {'connected_gene': 'GC10M086714', 'score': 0.77}]
chr10 GH10I086730 86730364 86730513 0.87 [{'connected_gene': 'BMPR1A', 'score': 18.6}, {'connected_gene': 'GC10M086714', 'score': 0.37}, {'connected_gene': 'LDB3', 'score': 0.21}]
chr10 GH10I086702 86702210 86703616 0.46 [{'connected_gene': 'BMPR1A', 'score': 12.19}, {'connected_gene': 'GC10M086714', 'score': 0.39}, {'connected_gene': 'LDB3', 'score': 0.28}]
chr10 GH10I086689 86689596 86693050 0.31 [{'connected_gene': 'FAM35A', 'score': 5.18}, {'connected_gene': 'BMPR1A', 'score': 4.84}, {'connected_gene': 'LDB3', 'score': 0.34}, {'connected_gene': 'GC10M086714', 'score': 0.34}]
chr10 GH10I086389 86389201 86390713 0.87 [{'connected_gene': 'WAPL', 'score': 5.51}, {'connected_gene': 'OPN4', 'score': 4.43}, {'connected_gene': 'LDB3', 'score': 4.28}, {'connected_gene': 'GC10M086380', 'score': 0.44}, {'connected_gene': 'GC10P086443', 'score': 0.23}]
chr10 GH10I086662 86662842 86676184 1.79 [{'connected_gene': 'LDB3', 'score': 565.18}, {'connected_gene': 'OPN4', 'score': 30.01}, {'connected_gene': 'ENSG00000272631', 'score': 7.2}, {'connected_gene': 'LOC105378409', 'score': 0.77}, {'connected_gene': 'GC10M086714', 'score': 0.25}]
chr10 GH10I086414 86414757 86416222 0.66 [{'connected_gene': 'LDB3', 'score': 7.18}, {'connected_gene': 'OPN4', 'score': 5.96}, {'connected_gene': 'GC10P086443', 'score': 0.31}, {'connected_gene': 'GC10M086380', 'score': 0.29}]
chr10 GH10I086680 86680644 86681866 0.58 [{'connected_gene': 'LDB3', 'score': 15.22}, {'connected_gene': 'OPN4', 'score': 11.6}, {'connected_gene': 'ENSG00000272631', 'score': 7.24}, {'connected_gene': 'GC10M086714', 'score': 0.29}]
chr10 GH10I086693 86693347 86694664 0.84 [{'connected_gene': 'LDB3', 'score': 12.97}, {'connected_gene': 'OPN4', 'score': 11.78}, {'connected_gene': 'GC10M086714', 'score': 0.34}]
chr10 GH10I086678 86678832 86679929 0.82 [{'connected_gene': 'LDB3', 'score': 7.42}, {'connected_gene': 'ENSG00000272631', 'score': 5.95}, {'connected_gene': 'GC10M086714', 'score': 0.28}]
chr10 GH10I086534 86534919 86537382 1.04 [{'connected_gene': 'RNU6-780P', 'score': 11.26}, {'connected_gene': 'MINPP1', 'score': 6.37}, {'connected_gene': 'LDB3', 'score': 5.23}, {'connected_gene': 'LOC105378408', 'score': 0.77}, {'connected_gene': 'LOC105378407', 'score': 0.34}]
chr10 GH10I086436 86436572 86443907 1.34 [{'connected_gene': 'RNU6-780P', 'score': 11.72}, {'connected_gene': 'ENSG00000227896', 'score': 11.46}, {'connected_gene': 'WAPL', 'score': 11.46}, {'connected_gene': 'LDB3', 'score': 6.39}, {'connected_gene': 'OPN4', 'score': 5.53}, {'connected_gene': 'BMPR1A', 'score': 4.71}, {'connected_gene': 'GC10P086443', 'score': 0.77}, {'connected_gene': 'GC10M086380', 'score': 0.22}]
chr10 GH10I086717 86717738 86719095 0.43 [{'connected_gene': 'NPAP1P3', 'score': 5.23}, {'connected_gene': 'GC10M086714', 'score': 0.77}, {'connected_gene': 'BMPR1A', 'score': 0.28}, {'connected_gene': 'LDB3', 'score': 0.23}]
chr10 GH10I086714 86714694 86717406 0.46 [{'connected_gene': 'GC10M086714', 'score': 550.77}, {'connected_gene': 'BMPR1A', 'score': 5.99}, {'connected_gene': 'NPAP1P3', 'score': 5.2}, {'connected_gene': 'LDB3', 'score': 0.25}]
chr10 GH10I086399 86399444 86403362 1.75 [{'connected_gene': 'ENSG00000227896', 'score': 19.6}, {'connected_gene': 'ENSG00000272631', 'score': 18.35}, {'connected_gene': 'GRID1', 'score': 17.14}, {'connected_gene': 'WAPL', 'score': 4.49}, {'connected_gene': 'LDB3', 'score': 4.18}, {'connected_gene': 'OPN4', 'score': 2.69}, {'connected_gene': 'GC10M086380', 'score': 0.34}, {'connected_gene': 'GC10P086443', 'score': 0.26}]
chr10 GH10I086409 86409771 86414551 1.51 [{'connected_gene': 'ENSG00000272631', 'score': 10.07}, {'connected_gene': 'GRID1', 'score': 4.64}, {'connected_gene': 'LDB3', 'score': 4.58}, {'connected_gene': 'GC10M086380', 'score': 0.29}, {'connected_gene': 'GC10P086443', 'score': 0.29}]
chr10 GH10I086519 86519521 86523112 1.99 [{'connected_gene': 'GC10M086520', 'score': 550.77}, {'connected_gene': 'ENSG00000227896', 'score': 550.77}, {'connected_gene': 'GC10M086521', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 550.77}, {'connected_gene': 'LDB3', 'score': 6.41}, {'connected_gene': 'GLUD1', 'score': 4.53}, {'connected_gene': 'GC10P086518', 'score': 0.77}, {'connected_gene': 'GC10P086490', 'score': 0.29}]
chr10 GH10I086698 86698110 86701886 0.52 [{'connected_gene': 'ENSG00000272631', 'score': 5.73}, {'connected_gene': 'GC10M086714', 'score': 0.39}, {'connected_gene': 'LDB3', 'score': 0.29}]
chr10 GH10I086708 86708857 86709900 0.49 [{'connected_gene': 'ENSG00000272631', 'score': 4.8}, {'connected_gene': 'GC10M086714', 'score': 0.44}, {'connected_gene': 'LDB3', 'score': 0.26}]
chr10 GH10I086309 86309579 86320829 0.75 [{'connected_gene': 'ENSG00000227896', 'score': 16.61}, {'connected_gene': 'ADIRF-AS1', 'score': 12.22}, {'connected_gene': 'GRID1', 'score': 11.92}, {'connected_gene': 'MIR346', 'score': 11.5}, {'connected_gene': 'WAPL', 'score': 11.36}, {'connected_gene': 'MMRN2', 'score': 5.39}, {'connected_gene': 'LDB3', 'score': 4.84}, {'connected_gene': 'OPN4', 'score': 4.44}]

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