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
ENST00000487794 [[139834886, 139835623], [139835702, 139835915], [139835988, 139836136], [139836206, 139836918], [139836998, 139837120]] None
ENST00000325285 [[139834886, 139835623], [139835702, 139835915], [139835988, 139836136], [139836497, 139836918], [139836998, 139837147], [139837220, 139837395], [139837800, 139837958], [139838342, 139838558], [139839045, 139839102]] [[139835379, 139835623], [139835702, 139835915], [139835988, 139836136], [139836497, 139836918], [139836998, 139837147], [139837220, 139837395], [139837800, 139837958], [139838342, 139838535]]
ENST00000483559 [[139834886, 139835623], [139835702, 139835915], [139835988, 139836136], [139836497, 139837147], [139837220, 139837395], [139837800, 139837958], [139838342, 139838558], [139839045, 139839140]] None
ENST00000459905 [[139834886, 139835623], [139835702, 139835915], [139835988, 139836136], [139836551, 139836918], [139836998, 139837395], [139837800, 139837958], [139838342, 139838558], [139839045, 139839148]] None
ENST00000433269 [[139835862, 139835915], [139835988, 139836136], [139836497, 139836918], [139836998, 139837178]] [[139835862, 139835915], [139835988, 139836136], [139836497, 139836918], [139836998, 139837178]]
ENST00000480818 [[139836998, 139837395], [139837800, 139837958], [139838342, 139838607]] None
ENST00000491246 [[139836998, 139837147], [139837220, 139837455], [139837800, 139837958], [139838342, 139838558], [139839045, 139839072]] None
ENST00000428398 [[139837102, 139837147], [139837220, 139837425], [139837800, 139837958], [139838342, 139838558], [139839045, 139839139]] [[139837102, 139837147], [139837220, 139837425], [139837800, 139837958], [139838342, 139838535]]
ENST00000443788 [[139837358, 139837395], [139837800, 139837958], [139838342, 139838986]] [[139837358, 139837395], [139837800, 139837958], [139838342, 139838535]]
NM_018998 [[139834884, 139835623], [139835702, 139835915], [139835988, 139836136], [139836497, 139836918], [139836998, 139837147], [139837220, 139837395], [139837800, 139837958], [139838342, 139838558], [139839045, 139839206]] [[139835379, 139835623], [139835702, 139835915], [139835988, 139836136], [139836497, 139836918], [139836998, 139837147], [139837220, 139837395], [139837800, 139837958], [139838342, 139838535]]
Promoter
Chrom Start End Description
chr9 139836518 139836532 CAGE_peak_12_at_FBXW5_5end
chr9 139838624 139838660 CAGE_peak_11_at_FBXW5_5end
chr9 139838806 139838818 CAGE_peak_18_at_FBXW5_5end
chr9 139839002 139839020 CAGE_peak_3_at_FBXW5_5end
chr9 139839064 139839147 CAGE_peak_1_at_FBXW5_5end
chr9 139839148 139839166 CAGE_peak_4_at_FBXW5_5end
chr9 139839178 139839204 CAGE_peak_2_at_FBXW5_5end
chr9 139839209 139839219 CAGE_peak_6_at_FBXW5_5end
chr9 139839233 139839240 CAGE_peak_8_at_FBXW5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I136822 136821400 136821601 0.81 [{'connected_gene': 'DPH7', 'score': 16.98}, {'connected_gene': 'INPP5E', 'score': 16.39}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.81}, {'connected_gene': 'EXD3', 'score': 13.2}, {'connected_gene': 'CCDC183', 'score': 12.55}, {'connected_gene': 'AJM1', 'score': 12.27}, {'connected_gene': 'MAMDC4', 'score': 12.24}, {'connected_gene': 'PHPT1', 'score': 12.24}, {'connected_gene': 'SNAPC4', 'score': 11.88}, {'connected_gene': 'LCN12', 'score': 11.68}, {'connected_gene': 'FBXW5', 'score': 11.59}, {'connected_gene': 'C8G', 'score': 11.59}, {'connected_gene': 'ANAPC2', 'score': 11.32}, {'connected_gene': 'QSOX2', 'score': 10.99}, {'connected_gene': 'CCDC183-AS1', 'score': 10.16}, {'connected_gene': 'MAN1B1', 'score': 9.93}, {'connected_gene': 'MIR4292', 'score': 0.44}, {'connected_gene': 'NCLP1', 'score': 0.44}, {'connected_gene': 'RABL6', 'score': 0.39}, {'connected_gene': 'ENSG00000272679', 'score': 0.34}]
chr9 GH09I136787 136787601 136801825 2.51 [{'connected_gene': 'TMEM141', 'score': 561.35}, {'connected_gene': 'CCDC183', 'score': 550.77}, {'connected_gene': 'DPH7', 'score': 30.0}, {'connected_gene': 'LCN8', 'score': 18.18}, {'connected_gene': 'ANAPC2', 'score': 15.3}, {'connected_gene': 'ABCA2', 'score': 14.83}, {'connected_gene': 'SNHG7', 'score': 12.17}, {'connected_gene': 'LCN10', 'score': 11.88}, {'connected_gene': 'EXD3', 'score': 11.43}, {'connected_gene': 'LCN12', 'score': 11.33}, {'connected_gene': 'PRR31', 'score': 11.32}, {'connected_gene': 'FBXW5', 'score': 10.78}, {'connected_gene': 'C8G', 'score': 10.78}, {'connected_gene': 'MAN1B1', 'score': 10.41}, {'connected_gene': 'SEC16A', 'score': 10.17}, {'connected_gene': 'QSOX2', 'score': 9.92}, {'connected_gene': 'SDCCAG3', 'score': 9.71}, {'connected_gene': 'ENSG00000273066', 'score': 0.77}, {'connected_gene': 'ENSG00000272896', 'score': 0.77}, {'connected_gene': 'ENSG00000272679', 'score': 0.44}]
chr9 GH09I136821 136821669 136821838 0.2 [{'connected_gene': 'CCDC183', 'score': 18.27}, {'connected_gene': 'AJM1', 'score': 12.27}, {'connected_gene': 'MAMDC4', 'score': 12.24}, {'connected_gene': 'PHPT1', 'score': 12.24}, {'connected_gene': 'LCN12', 'score': 11.68}, {'connected_gene': 'FBXW5', 'score': 11.59}, {'connected_gene': 'C8G', 'score': 11.59}, {'connected_gene': 'MIR4292', 'score': 0.44}, {'connected_gene': 'NCLP1', 'score': 0.44}, {'connected_gene': 'RABL6', 'score': 0.39}, {'connected_gene': 'ENSG00000272679', 'score': 0.34}]
chr9 GH09I136823 136821909 136822058 0.2 [{'connected_gene': 'CCDC183', 'score': 12.55}, {'connected_gene': 'AJM1', 'score': 12.27}, {'connected_gene': 'MAMDC4', 'score': 12.24}, {'connected_gene': 'PHPT1', 'score': 12.24}, {'connected_gene': 'LCN12', 'score': 11.68}, {'connected_gene': 'FBXW5', 'score': 11.59}, {'connected_gene': 'C8G', 'score': 11.59}, {'connected_gene': 'MIR4292', 'score': 0.44}, {'connected_gene': 'NCLP1', 'score': 0.44}, {'connected_gene': 'RABL6', 'score': 0.39}, {'connected_gene': 'ENSG00000272679', 'score': 0.34}]
chr9 GH09I137221 137221486 137232704 2.85 [{'connected_gene': 'RNF224', 'score': 556.63}, {'connected_gene': 'SLC34A3', 'score': 555.96}, {'connected_gene': 'EHMT1', 'score': 17.44}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'SDCCAG3', 'score': 15.1}, {'connected_gene': 'ANAPC2', 'score': 12.28}, {'connected_gene': 'RNF208', 'score': 7.2}, {'connected_gene': 'CYSRT1', 'score': 7.15}, {'connected_gene': 'NDOR1', 'score': 6.77}, {'connected_gene': 'MRPL41', 'score': 5.76}, {'connected_gene': 'GRIN1', 'score': 3.3}, {'connected_gene': 'FBXW5', 'score': 2.93}, {'connected_gene': 'NSMF', 'score': 2.57}, {'connected_gene': 'NPDC1', 'score': 2.53}, {'connected_gene': 'ARRDC1-AS1', 'score': 2.52}, {'connected_gene': 'DPH7', 'score': 1.92}, {'connected_gene': 'TPRN', 'score': 1.77}, {'connected_gene': 'NELFB', 'score': 1.57}, {'connected_gene': 'RABL6', 'score': 1.51}, {'connected_gene': 'ABCA2', 'score': 1.5}, {'connected_gene': 'TMEM203', 'score': 1.43}, {'connected_gene': 'SSNA1', 'score': 1.43}]
chr9 GH09I136940 136940358 136941249 0.69 [{'connected_gene': 'FBXW5', 'score': 0.77}, {'connected_gene': 'ENSG00000260190', 'score': 0.77}]
chr9 GH09I136942 136942142 136952779 2.31 [{'connected_gene': 'LCN12', 'score': 576.76}, {'connected_gene': 'FBXW5', 'score': 550.77}, {'connected_gene': 'C8G', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 38.22}, {'connected_gene': 'SDCCAG3', 'score': 27.54}, {'connected_gene': 'DPH7', 'score': 20.39}, {'connected_gene': 'ANAPC2', 'score': 17.43}, {'connected_gene': 'SEC16A', 'score': 14.79}, {'connected_gene': 'LOC651337', 'score': 13.62}, {'connected_gene': 'NDOR1', 'score': 13.13}, {'connected_gene': 'MAN1B1', 'score': 12.58}, {'connected_gene': 'RABL6', 'score': 10.32}, {'connected_gene': 'SNHG7', 'score': 10.13}, {'connected_gene': 'LCNL1', 'score': 6.82}]
chr9 GH09I136784 136784686 136786448 0.9 [{'connected_gene': 'LCN8', 'score': 18.35}, {'connected_gene': 'ABCA2', 'score': 14.93}, {'connected_gene': 'NDOR1', 'score': 12.38}, {'connected_gene': 'LCN10', 'score': 11.91}, {'connected_gene': 'CCDC183-AS1', 'score': 11.84}, {'connected_gene': 'RABL6', 'score': 11.84}, {'connected_gene': 'LCN12', 'score': 11.32}, {'connected_gene': 'PRR31', 'score': 11.31}, {'connected_gene': 'FBXW5', 'score': 10.78}, {'connected_gene': 'C8G', 'score': 10.78}, {'connected_gene': 'MAN1B1', 'score': 9.69}, {'connected_gene': 'TMEM141', 'score': 7.23}, {'connected_gene': 'ATP6V1G1P3', 'score': 0.44}]
chr9 GH09I136884 136884710 136887839 2.23 [{'connected_gene': 'MIR4479', 'score': 550.77}, {'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'LOC105376326', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 38.48}, {'connected_gene': 'SDCCAG3', 'score': 24.18}, {'connected_gene': 'ANAPC2', 'score': 22.04}, {'connected_gene': 'PHPT1', 'score': 21.75}, {'connected_gene': 'SNHG7', 'score': 16.35}, {'connected_gene': 'LOC651337', 'score': 15.58}, {'connected_gene': 'MAMDC4', 'score': 12.44}, {'connected_gene': 'AJM1', 'score': 12.42}, {'connected_gene': 'FBXW5', 'score': 11.85}, {'connected_gene': 'C8G', 'score': 11.85}, {'connected_gene': 'LCN12', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'PRR31', 'score': 11.74}, {'connected_gene': 'CCDC183-AS1', 'score': 11.55}, {'connected_gene': 'RABL6', 'score': 11.55}, {'connected_gene': 'CCDC183', 'score': 11.54}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'EXD3', 'score': 10.7}, {'connected_gene': 'MAN1B1', 'score': 10.32}, {'connected_gene': 'DPP7', 'score': 10.31}, {'connected_gene': 'GRIN1', 'score': 10.31}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'DPH7', 'score': 9.84}, {'connected_gene': 'LCNL1', 'score': 5.9}]
chr9 GH09I136881 136881316 136884008 1.4 [{'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'PHPT1', 'score': 23.32}, {'connected_gene': 'MAMDC4', 'score': 12.46}, {'connected_gene': 'AJM1', 'score': 12.44}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'LCN12', 'score': 11.77}, {'connected_gene': 'PRR31', 'score': 11.73}, {'connected_gene': 'FBXW5', 'score': 11.6}, {'connected_gene': 'C8G', 'score': 11.6}, {'connected_gene': 'RABL6', 'score': 11.39}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'CCDC183', 'score': 11.36}, {'connected_gene': 'CCDC183-AS1', 'score': 10.91}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'ANAPC2', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'LOC105376326', 'score': 0.77}]
chr9 GH09I136939 136939288 136940227 0.67 [{'connected_gene': 'ENSG00000260190', 'score': 550.77}, {'connected_gene': 'LCN12', 'score': 20.8}, {'connected_gene': 'FBXW5', 'score': 0.44}]