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
ENST00000469792 [[103529898, 103530376], [103531219, 103531326], [103534488, 103534636], [103535298, 103535533], [103535625, 103535854]] [[103535451, 103535533], [103535625, 103535657]]
ENST00000344255 [[103530080, 103530376], [103531219, 103531326], [103534488, 103534636], [103534886, 103534973], [103535496, 103535533], [103535625, 103535657]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534636], [103534886, 103534973], [103535496, 103535533], [103535625, 103535657]]
ENST00000485728 [[103530080, 103530376], [103531219, 103531326], [103534488, 103534669], [103535625, 103535657]] None
ENST00000320185 [[103530080, 103530376], [103531219, 103531326], [103534488, 103534669], [103534886, 103534973], [103535496, 103535533], [103535625, 103535716]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534669], [103534886, 103534973], [103535496, 103535533], [103535625, 103535657]]
ENST00000346714 [[103530080, 103530376], [103531219, 103531326], [103534488, 103534636], [103535496, 103535533], [103535625, 103535731]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534636], [103535496, 103535533], [103535625, 103535657]]
ENST00000347978 [[103530080, 103530376], [103531219, 103531326], [103534488, 103534669], [103535496, 103535533], [103535625, 103535827]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534669], [103535496, 103535533], [103535625, 103535657]]
NM_033163 [[103529886, 103530376], [103531219, 103531326], [103534488, 103534669], [103534886, 103534973], [103535496, 103535533], [103535625, 103535759]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534669], [103534886, 103534973], [103535496, 103535533], [103535625, 103535657]]
NM_033164 [[103529886, 103530376], [103531219, 103531326], [103534488, 103534636], [103534886, 103534973], [103535496, 103535533], [103535625, 103535759]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534636], [103534886, 103534973], [103535496, 103535533], [103535625, 103535657]]
NM_006119 [[103529886, 103530376], [103531219, 103531326], [103534488, 103534669], [103535496, 103535533], [103535625, 103535759]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534669], [103535496, 103535533], [103535625, 103535657]]
NM_033165 [[103529886, 103530376], [103531219, 103531326], [103534488, 103534636], [103535496, 103535533], [103535625, 103535759]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534636], [103535496, 103535533], [103535625, 103535657]]
NM_001206389 [[103529886, 103530376], [103531219, 103531326], [103534488, 103534636], [103535496, 103535533], [103540052, 103540126]] [[103530085, 103530376], [103531219, 103531326], [103534488, 103534513]]
Promoter
Chrom Start End Description
chr10 103535835 103535845 CAGE_peak_3_at_FGF8_5end
chr10 103535862 103535880 CAGE_peak_1_at_FGF8_5end
chr10 103535882 103535901 CAGE_peak_2_at_FGF8_5end
chr10 103536021 103536028 CAGE_peak_6_at_FGF8_5end
chr10 103536091 103536118 CAGE_peak_5_at_FGF8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I101668 101668261 101668939 0.2 [{'connected_gene': 'FBXW4', 'score': 11.14}, {'connected_gene': 'FGF8', 'score': 10.6}, {'connected_gene': 'RNU6-1165P', 'score': 10.46}, {'connected_gene': 'POLL', 'score': 9.74}, {'connected_gene': 'DPCD', 'score': 9.72}]
chr10 GH10I102007 102007703 102008402 0.2 [{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10 GH10I102009 102009800 102010201 1.24 [{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10 GH10I101616 101616886 101618129 0.74 [{'connected_gene': 'DPCD', 'score': 16.08}, {'connected_gene': 'POLL', 'score': 11.12}, {'connected_gene': 'FGF8', 'score': 11.05}, {'connected_gene': 'BTRC', 'score': 9.4}, {'connected_gene': 'RNU6-1165P', 'score': 0.44}, {'connected_gene': 'MIR3158-2', 'score': 0.37}, {'connected_gene': 'FBXW4', 'score': 0.18}]
chr10 GH10I101778 101778333 101781520 1.79 [{'connected_gene': 'FGF8', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 17.86}, {'connected_gene': 'NPM3', 'score': 6.72}, {'connected_gene': 'LOC105378457', 'score': 0.39}]
chr10 GH10I101725 101725852 101726422 0.31 [{'connected_gene': 'FGF8', 'score': 11.32}, {'connected_gene': 'FBXW4', 'score': 11.3}, {'connected_gene': 'POLL', 'score': 10.34}, {'connected_gene': 'DPCD', 'score': 10.32}, {'connected_gene': 'HPS6', 'score': 9.11}, {'connected_gene': 'ENSG00000224817', 'score': 0.37}, {'connected_gene': 'LOC105378458', 'score': 0.26}]
chr10 GH10I101858 101858366 101860237 0.46 [{'connected_gene': 'FGF8', 'score': 10.4}, {'connected_gene': 'PPRC1', 'score': 10.32}, {'connected_gene': 'GC10M101802', 'score': 0.39}, {'connected_gene': 'LOC101927445', 'score': 0.37}, {'connected_gene': 'ENSG00000274742', 'score': 0.23}, {'connected_gene': 'C10orf76', 'score': 0.08}]
chr10 GH10I101776 101776104 101776163 0.61 [{'connected_gene': 'FGF8', 'score': 550.77}, {'connected_gene': 'LOC105378457', 'score': 0.44}]
chr10 GH10I101775 101775905 101775964 0.61 [{'connected_gene': 'FGF8', 'score': 550.77}, {'connected_gene': 'LOC105378457', 'score': 0.44}]
chr10 GH10I101642 101642663 101645492 0.43 [{'connected_gene': 'RNU6-1165P', 'score': 11.9}, {'connected_gene': 'POLL', 'score': 11.16}, {'connected_gene': 'DPCD', 'score': 11.13}, {'connected_gene': 'FGF8', 'score': 10.45}, {'connected_gene': 'RNU2-43P', 'score': 9.59}, {'connected_gene': 'HPS6', 'score': 6.5}, {'connected_gene': 'FBXW4', 'score': 0.23}]
chr10 GH10I101774 101774684 101774833 0.54 [{'connected_gene': 'LOC105378457', 'score': 0.44}, {'connected_gene': 'FGF8', 'score': 0.44}]
chr10 GH10I101767 101767436 101768636 0.93 [{'connected_gene': 'LOC105378457', 'score': 550.77}, {'connected_gene': 'LOC105378458', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 16.71}, {'connected_gene': 'PSD', 'score': 4.74}, {'connected_gene': 'FGF8', 'score': 0.39}]
chr10 GH10I101285 101285764 101285993 0.64 [{'connected_gene': 'LOC105378453', 'score': 550.77}, {'connected_gene': 'FGF8', 'score': 8.86}, {'connected_gene': 'GC10P101308', 'score': 0.34}]
chr10 GH10I101286 101284924 101284993 0.31 [{'connected_gene': 'LOC105378453', 'score': 550.77}, {'connected_gene': 'FGF8', 'score': 8.86}, {'connected_gene': 'GC10P101308', 'score': 0.34}]
chr10 GH10I101284 101284184 101284213 0.31 [{'connected_gene': 'LOC105378453', 'score': 550.77}, {'connected_gene': 'FGF8', 'score': 8.86}, {'connected_gene': 'GC10P101280', 'score': 0.77}]
chr10 GH10I101287 101285439 101285591 0.38 [{'connected_gene': 'LOC105378453', 'score': 550.77}, {'connected_gene': 'FGF8', 'score': 8.86}, {'connected_gene': 'GC10P101308', 'score': 0.34}]
chr10 GH10I101321 101321930 101321956 0.24 [{'connected_gene': 'ENSG00000230967', 'score': 550.77}, {'connected_gene': 'BTRC', 'score': 10.9}, {'connected_gene': 'RNU2-59P', 'score': 10.5}, {'connected_gene': 'FGF8', 'score': 9.12}, {'connected_gene': 'SLF2', 'score': 1.52}, {'connected_gene': 'LOC105378454', 'score': 0.39}]