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
ENST00000267273 [[103338093, 103338775], [103339289, 103339407], [103343162, 103343314], [103346718, 103346854]] [[103338380, 103338775], [103339289, 103339407], [103343162, 103343314], [103346718, 103346848]]
NM_001010977 [[103338096, 103338775], [103339289, 103339407], [103343162, 103343314], [103346718, 103346871]] [[103338380, 103338775], [103339289, 103339407], [103343162, 103343314], [103346718, 103346848]]
Promoter
Chrom Start End Description
chr13 103356647 103356655 CAGE_peak_1_at_METTL21C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I102594 102594713 102599922 2.53 [{'connected_gene': 'TPP2', 'score': 570.71}, {'connected_gene': 'ERCC5', 'score': 20.71}, {'connected_gene': 'METTL21C', 'score': 7.86}, {'connected_gene': 'GC13P102663', 'score': 0.2}]
chr13 GH13I102822 102822954 102825092 0.31 [{'connected_gene': 'CCDC168', 'score': 10.53}, {'connected_gene': 'LINC00283', 'score': 10.52}, {'connected_gene': 'ERCC5', 'score': 9.96}, {'connected_gene': 'METTL21EP', 'score': 9.91}, {'connected_gene': 'METTL21C', 'score': 9.74}, {'connected_gene': 'ENSG00000272542', 'score': 9.23}, {'connected_gene': 'RNY5P8', 'score': 0.77}, {'connected_gene': 'GC13P102835', 'score': 0.39}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.34}, {'connected_gene': 'BIVM', 'score': 0.34}]
chr13 GH13I102825 102825264 102827221 0.97 [{'connected_gene': 'CCDC168', 'score': 10.53}, {'connected_gene': 'LINC00283', 'score': 10.52}, {'connected_gene': 'METTL21C', 'score': 9.73}, {'connected_gene': 'ENSG00000272542', 'score': 9.23}, {'connected_gene': 'METTL21EP', 'score': 8.81}, {'connected_gene': 'RNY5P8', 'score': 0.44}, {'connected_gene': 'GC13P102835', 'score': 0.44}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.31}, {'connected_gene': 'BIVM', 'score': 0.31}]
chr13 GH13I102606 102606155 102606887 0.82 [{'connected_gene': 'BIVM', 'score': 10.68}, {'connected_gene': 'ERCC5', 'score': 10.66}, {'connected_gene': 'LINC00283', 'score': 10.22}, {'connected_gene': 'CCDC168', 'score': 10.21}, {'connected_gene': 'METTL21C', 'score': 6.75}, {'connected_gene': 'TPP2', 'score': 0.44}, {'connected_gene': 'GC13P102663', 'score': 0.22}]
chr13 GH13I102844 102844531 102848468 2.28 [{'connected_gene': 'ERCC5', 'score': 572.91}, {'connected_gene': 'BIVM', 'score': 24.61}, {'connected_gene': 'TEX30', 'score': 11.39}, {'connected_gene': 'METTL21EP', 'score': 11.25}, {'connected_gene': 'TPP2', 'score': 10.79}, {'connected_gene': 'CCDC168', 'score': 10.68}, {'connected_gene': 'LINC00283', 'score': 10.66}, {'connected_gene': 'METTL21C', 'score': 9.91}, {'connected_gene': 'GC13P102835', 'score': 0.39}, {'connected_gene': 'GC13M102871', 'score': 0.31}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.25}]
chr13 GH13I102604 102604942 102605781 0.46 [{'connected_gene': 'METTL21C', 'score': 7.62}, {'connected_gene': 'TPP2', 'score': 0.44}, {'connected_gene': 'GC13P102663', 'score': 0.22}]
chr13 GH13I102603 102603173 102604706 0.2 [{'connected_gene': 'METTL21C', 'score': 7.86}, {'connected_gene': 'TPP2', 'score': 0.44}, {'connected_gene': 'GC13P102663', 'score': 0.22}]
chr13 GH13I102729 102729182 102730689 0.85 [{'connected_gene': 'METTL21C', 'score': 10.78}, {'connected_gene': 'LINC00283', 'score': 0.39}, {'connected_gene': 'CCDC168', 'score': 0.31}]
chr13 GH13I102694 102694563 102694622 0.5 [{'connected_gene': 'METTL21C', 'score': 550.77}, {'connected_gene': 'LINC00283', 'score': 0.25}]
chr13 GH13I102703 102703059 102705466 0.69 [{'connected_gene': 'LINC00283', 'score': 11.49}, {'connected_gene': 'CCDC168', 'score': 11.45}, {'connected_gene': 'METTL21C', 'score': 0.44}]
chr13 GH13I102709 102709799 102710887 0.31 [{'connected_gene': 'LINC00283', 'score': 11.51}, {'connected_gene': 'CCDC168', 'score': 11.46}, {'connected_gene': 'METTL21C', 'score': 5.92}, {'connected_gene': 'ENSG00000272542', 'score': 4.75}]
chr13 GH13I102699 102699960 102702086 0.43 [{'connected_gene': 'LINC00283', 'score': 11.29}, {'connected_gene': 'CCDC168', 'score': 11.25}, {'connected_gene': 'METTL21C', 'score': 5.98}]
chr13 GH13I102720 102720171 102720320 0.2 [{'connected_gene': 'LINC00283', 'score': 12.48}, {'connected_gene': 'CCDC168', 'score': 12.42}, {'connected_gene': 'METTL21C', 'score': 11.41}]
chr13 GH13I102706 102706724 102708507 0.94 [{'connected_gene': 'LINC00283', 'score': 11.49}, {'connected_gene': 'CCDC168', 'score': 11.45}, {'connected_gene': 'METTL21C', 'score': 0.39}]
chr13 GH13I102687 102687871 102689107 0.2 [{'connected_gene': 'LINC00283', 'score': 11.02}, {'connected_gene': 'CCDC168', 'score': 10.98}, {'connected_gene': 'GC13P102680', 'score': 0.44}, {'connected_gene': 'METTL21C', 'score': 0.44}]
chr13 GH13I102614 102614077 102614971 0.2 [{'connected_gene': 'LINC00283', 'score': 10.56}, {'connected_gene': 'BIVM', 'score': 9.65}, {'connected_gene': 'ERCC5', 'score': 9.63}, {'connected_gene': 'METTL21C', 'score': 7.89}, {'connected_gene': 'TPP2', 'score': 0.37}, {'connected_gene': 'GC13P102663', 'score': 0.25}]
chr13 GH13I102721 102721811 102722100 0.31 [{'connected_gene': 'LINC00283', 'score': 0.34}, {'connected_gene': 'METTL21C', 'score': 0.31}]
chr13 GH13I102725 102725031 102725180 0.78 [{'connected_gene': 'LINC00283', 'score': 0.37}, {'connected_gene': 'METTL21C', 'score': 0.29}]
chr13 GH13I102840 102840587 102841326 0.2 [{'connected_gene': 'GC13P102841', 'score': 550.77}, {'connected_gene': 'PIR34791', 'score': 550.77}, {'connected_gene': 'GC13P102840', 'score': 550.77}, {'connected_gene': 'ERCC5', 'score': 13.8}, {'connected_gene': 'TEX30', 'score': 11.4}, {'connected_gene': 'BIVM', 'score': 11.18}, {'connected_gene': 'CCDC168', 'score': 10.69}, {'connected_gene': 'LINC00283', 'score': 10.67}, {'connected_gene': 'METTL21C', 'score': 9.92}, {'connected_gene': 'METTL21EP', 'score': 8.88}, {'connected_gene': 'GC13P102835', 'score': 0.44}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.26}]
chr13 GH13I102679 102679571 102679700 0.31 [{'connected_gene': 'GC13P102680', 'score': 550.77}, {'connected_gene': 'GC13P102679', 'score': 550.77}, {'connected_gene': 'LINC00283', 'score': 10.62}, {'connected_gene': 'CCDC168', 'score': 10.6}, {'connected_gene': 'METTL21C', 'score': 7.39}, {'connected_gene': 'TPP2', 'score': 0.18}]
chr13 GH13I102680 102680363 102681401 0.51 [{'connected_gene': 'GC13P102680', 'score': 550.77}, {'connected_gene': 'GC13P102679', 'score': 550.77}, {'connected_gene': 'LINC00283', 'score': 10.62}, {'connected_gene': 'CCDC168', 'score': 10.6}, {'connected_gene': 'METTL21C', 'score': 7.39}]