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
ENST00000224950 [[105642299, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658634, 105658758], [105659819, 105659981], [105664848, 105664914], [105670284, 105670380], [105677219, 105677414], [105677857, 105677963]] [[105642441, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658634, 105658758], [105659819, 105659981], [105664848, 105664914], [105670284, 105670380], [105677219, 105677352]]
ENST00000369764 [[105642312, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658634, 105658758], [105659819, 105659981], [105664848, 105664914], [105670284, 105670380], [105677219, 105677427]] [[105642441, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658634, 105658758], [105659819, 105659981], [105664848, 105664914], [105670284, 105670380], [105677219, 105677352]]
ENST00000466828 [[105642312, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658050, 105658135], [105658634, 105658758], [105659819, 105659981], [105664848, 105664914], [105670284, 105670380], [105677219, 105677414], [105677857, 105677888]] None
ENST00000472951 [[105642502, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658634, 105658758], [105659717, 105659911]] None
NM_024928 [[105637315, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658634, 105658758], [105659819, 105659981], [105664848, 105664914], [105670284, 105670380], [105677219, 105677414], [105677857, 105678045]] [[105642441, 105642599], [105648829, 105648902], [105651887, 105652010], [105657305, 105657477], [105658634, 105658758], [105659819, 105659981], [105664848, 105664914], [105670284, 105670380], [105677219, 105677352]]
Promoter
Chrom Start End Description
chr10 105677381 105677409 CAGE_peak_5_at_OBFC1_5end
chr10 105677427 105677438 CAGE_peak_7_at_OBFC1_5end
chr10 105677503 105677526 CAGE_peak_4_at_OBFC1_5end
chr10 105677535 105677580 CAGE_peak_2_at_OBFC1_5end
chr10 105677759 105677790 CAGE_peak_3_at_OBFC1_5end
chr10 105677886 105677995 CAGE_peak_1_at_OBFC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103905 103905129 103914106 1.77 [{'connected_gene': 'SLK', 'score': 17.12}, {'connected_gene': 'STN1', 'score': 7.17}, {'connected_gene': 'ENSG00000260461', 'score': 6.19}, {'connected_gene': 'GSTO2', 'score': 5.62}, {'connected_gene': 'SH3PXD2A', 'score': 4.74}, {'connected_gene': 'GSTO1', 'score': 3.03}, {'connected_gene': 'GC10M103885', 'score': 0.37}]
chr10 GH10I103922 103922932 103924122 0.69 [{'connected_gene': 'SLK', 'score': 6.77}, {'connected_gene': 'STN1', 'score': 0.44}, {'connected_gene': 'LOC102724351', 'score': 0.26}]
chr10 GH10I103925 103925723 103925872 0.2 [{'connected_gene': 'SLK', 'score': 5.94}, {'connected_gene': 'STN1', 'score': 0.44}, {'connected_gene': 'LOC102724351', 'score': 0.26}]
chr10 GH10I103926 103926103 103926252 0.2 [{'connected_gene': 'SLK', 'score': 6.78}, {'connected_gene': 'STN1', 'score': 0.44}, {'connected_gene': 'LOC102724351', 'score': 0.26}]
chr10 GH10I103941 103941372 103943237 0.31 [{'connected_gene': 'SLK', 'score': 7.82}, {'connected_gene': 'CALHM2', 'score': 5.46}, {'connected_gene': 'STN1', 'score': 0.34}, {'connected_gene': 'LOC102724351', 'score': 0.34}]
chr10 GH10I103899 103899443 103899592 0.4 [{'connected_gene': 'SLK', 'score': 11.66}, {'connected_gene': 'MIR936', 'score': 10.7}, {'connected_gene': 'GC10M103885', 'score': 0.44}, {'connected_gene': 'STN1', 'score': 0.37}]
chr10 GH10I103900 103899859 103901854 0.66 [{'connected_gene': 'SLK', 'score': 16.33}, {'connected_gene': 'MIR936', 'score': 10.7}, {'connected_gene': 'STN1', 'score': 5.06}, {'connected_gene': 'GC10M103885', 'score': 0.44}]
chr10 GH10I103737 103737957 103741667 0.97 [{'connected_gene': 'SH3PXD2A', 'score': 11.36}, {'connected_gene': 'STN1', 'score': 10.5}, {'connected_gene': 'GSTO1', 'score': 5.89}, {'connected_gene': 'GC10M103742', 'score': 0.77}, {'connected_gene': 'ENSG00000222503', 'score': 0.2}]
chr10 GH10I103848 103848984 103856580 2.67 [{'connected_gene': 'SH3PXD2A', 'score': 555.7}, {'connected_gene': 'ENSG00000260461', 'score': 5.63}, {'connected_gene': 'STN1', 'score': 5.6}, {'connected_gene': 'CFAP43', 'score': 4.67}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.14}]
chr10 GH10I103578 103578375 103581708 1.09 [{'connected_gene': 'NEURL1', 'score': 16.18}, {'connected_gene': 'NEURL1-AS1', 'score': 15.1}, {'connected_gene': 'CALHM2', 'score': 4.88}, {'connected_gene': 'STN1', 'score': 4.69}, {'connected_gene': 'GC10P103582', 'score': 0.77}, {'connected_gene': 'ENSG00000226431', 'score': 0.29}]
chr10 GH10I103892 103892293 103897049 1.54 [{'connected_gene': 'STN1', 'score': 17.12}, {'connected_gene': 'SLK', 'score': 15.97}, {'connected_gene': 'SH3PXD2A', 'score': 11.45}, {'connected_gene': 'MIR936', 'score': 10.69}, {'connected_gene': 'COL17A1', 'score': 10.54}, {'connected_gene': 'GC10M103885', 'score': 0.77}]
chr10 GH10I103914 103914453 103920574 2.26 [{'connected_gene': 'STN1', 'score': 558.08}, {'connected_gene': 'SLK', 'score': 11.47}, {'connected_gene': 'SORCS3', 'score': 5.54}, {'connected_gene': 'GC10M103885', 'score': 0.31}]
chr10 GH10I103928 103928644 103929903 0.72 [{'connected_gene': 'STN1', 'score': 6.86}, {'connected_gene': 'SLK', 'score': 6.81}, {'connected_gene': 'GSTO2', 'score': 4.91}, {'connected_gene': 'LOC102724351', 'score': 0.28}]
chr10 GH10I103897 103897168 103897840 0.38 [{'connected_gene': 'STN1', 'score': 17.88}, {'connected_gene': 'SLK', 'score': 11.66}, {'connected_gene': 'MIR936', 'score': 10.69}, {'connected_gene': 'GC10M103885', 'score': 0.44}]
chr10 GH10I103884 103884743 103884932 0.85 [{'connected_gene': 'STN1', 'score': 16.08}, {'connected_gene': 'SH3PXD2A', 'score': 12.01}, {'connected_gene': 'MIR609', 'score': 9.93}, {'connected_gene': 'PIR55313', 'score': 0.77}, {'connected_gene': 'GC10M103884', 'score': 0.77}, {'connected_gene': 'GC10M103885', 'score': 0.44}]
chr10 GH10I103986 103986401 103986692 0.58 [{'connected_gene': 'STN1', 'score': 11.13}, {'connected_gene': 'COL17A1', 'score': 9.86}, {'connected_gene': 'GSTO1', 'score': 5.79}, {'connected_gene': 'RN7SL524P', 'score': 0.39}, {'connected_gene': 'SLK', 'score': 0.37}, {'connected_gene': 'MIR936', 'score': 0.21}]
chr10 GH10I103982 103982736 103984599 0.79 [{'connected_gene': 'STN1', 'score': 11.47}, {'connected_gene': 'COL17A1', 'score': 8.68}, {'connected_gene': 'RN7SL524P', 'score': 0.44}, {'connected_gene': 'SLK', 'score': 0.37}, {'connected_gene': 'MIR936', 'score': 0.21}]
chr10 GH10I103958 103958796 103959809 0.2 [{'connected_gene': 'STN1', 'score': 12.21}, {'connected_gene': 'SFR1', 'score': 10.94}, {'connected_gene': 'SLK', 'score': 7.14}, {'connected_gene': 'CALHM2', 'score': 4.68}, {'connected_gene': 'LOC102724351', 'score': 0.44}]
chr10 GH10I103920 103920643 103920697 0.4 [{'connected_gene': 'STN1', 'score': 0.77}, {'connected_gene': 'LOC102724351', 'score': 0.25}]
chr10 GH10I103931 103931094 103932514 0.54 [{'connected_gene': 'STN1', 'score': 0.39}, {'connected_gene': 'LOC102724351', 'score': 0.28}]
chr10 GH10I103921 103921759 103922200 1.44 [{'connected_gene': 'STN1', 'score': 0.77}, {'connected_gene': 'LOC102724351', 'score': 0.25}]
chr10 GH10I104109 104109362 104110946 1.45 [{'connected_gene': 'SFR1', 'score': 42.77}, {'connected_gene': 'COL17A1', 'score': 11.61}, {'connected_gene': 'MIR936', 'score': 11.17}, {'connected_gene': 'STN1', 'score': 10.59}, {'connected_gene': 'CFAP43', 'score': 8.04}, {'connected_gene': 'GSTO1', 'score': 6.52}, {'connected_gene': 'CFAP58', 'score': 5.41}, {'connected_gene': 'SLK', 'score': 1.47}]
chr10 GH10I103965 103965843 103970825 2 [{'connected_gene': 'LOC102724351', 'score': 550.77}, {'connected_gene': 'SLK', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 20.71}, {'connected_gene': 'ENSG00000260461', 'score': 18.82}, {'connected_gene': 'TAF5', 'score': 15.88}, {'connected_gene': 'STN1', 'score': 11.29}, {'connected_gene': 'PCGF6', 'score': 10.19}, {'connected_gene': 'COL17A1', 'score': 9.81}, {'connected_gene': 'GC10P103974', 'score': 0.44}]
chr10 GH10I103744 103744462 103749621 1.04 [{'connected_gene': 'SH3PXD2A-AS1', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.38}, {'connected_gene': 'STN1', 'score': 10.5}, {'connected_gene': 'COL17A1', 'score': 9.35}, {'connected_gene': 'NT5C2', 'score': 4.72}, {'connected_gene': 'GSTO1', 'score': 4.63}, {'connected_gene': 'GSTO2', 'score': 4.55}]
chr10 GH10I103887 103887370 103891592 1.61 [{'connected_gene': 'GC10M103885', 'score': 550.77}, {'connected_gene': 'SLK', 'score': 17.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.47}, {'connected_gene': 'MIR936', 'score': 10.68}, {'connected_gene': 'ENSG00000260461', 'score': 10.08}, {'connected_gene': 'STN1', 'score': 5.01}, {'connected_gene': 'COL17A1', 'score': 2.44}, {'connected_gene': 'SFR1', 'score': 2.24}, {'connected_gene': 'GSTO2', 'score': 2.21}, {'connected_gene': 'GSTO1', 'score': 1.33}, {'connected_gene': 'PIR55313', 'score': 0.44}, {'connected_gene': 'GC10M103884', 'score': 0.44}]
chr10 GH10I103742 103742968 103744260 0.46 [{'connected_gene': 'GC10M103742', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.37}, {'connected_gene': 'STN1', 'score': 10.5}, {'connected_gene': 'GSTO2', 'score': 4.51}, {'connected_gene': 'GSTO1', 'score': 4.49}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.77}]
chr10 GH10I103869 103869557 103873902 1.01 [{'connected_gene': 'PIR55627', 'score': 550.77}, {'connected_gene': 'STN1', 'score': 11.78}, {'connected_gene': 'SH3PXD2A', 'score': 11.47}, {'connected_gene': 'SLK', 'score': 10.77}, {'connected_gene': 'MIR936', 'score': 10.6}, {'connected_gene': 'COL17A1', 'score': 6.44}, {'connected_gene': 'GSTO2', 'score': 4.47}, {'connected_gene': 'ENSG00000260461', 'score': 0.44}]
chr10 GH10I103878 103878502 103883866 0.66 [{'connected_gene': 'ENSG00000260461', 'score': 556.49}, {'connected_gene': 'PIR55313', 'score': 550.77}, {'connected_gene': 'GC10M103884', 'score': 550.77}, {'connected_gene': 'PIR46931', 'score': 550.77}, {'connected_gene': 'GC10M103883', 'score': 550.77}, {'connected_gene': 'STN1', 'score': 17.59}, {'connected_gene': 'SH3PXD2A', 'score': 16.65}, {'connected_gene': 'MIR936', 'score': 10.6}, {'connected_gene': 'MIR609', 'score': 9.93}]
chr10 GH10I103833 103833202 103841810 1.34 [{'connected_gene': 'ENSG00000260461', 'score': 40.56}, {'connected_gene': 'PDCD11', 'score': 33.65}, {'connected_gene': 'GSTO2', 'score': 4.83}, {'connected_gene': 'STN1', 'score': 4.62}, {'connected_gene': 'SLK', 'score': 4.46}, {'connected_gene': 'SH3PXD2A', 'score': 0.37}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.16}]
chr10 GH10I103692 103691981 103693499 1.84 [{'connected_gene': 'ENSG00000260461', 'score': 31.35}, {'connected_gene': 'SFR1', 'score': 12.58}, {'connected_gene': 'SLK', 'score': 12.14}, {'connected_gene': 'PDCD11', 'score': 11.85}, {'connected_gene': 'CALHM2', 'score': 10.52}, {'connected_gene': 'PCGF6', 'score': 9.8}, {'connected_gene': 'STN1', 'score': 4.17}, {'connected_gene': 'AS3MT', 'score': 4.15}, {'connected_gene': 'ENSG00000222503', 'score': 0.37}, {'connected_gene': 'GC10M103742', 'score': 0.25}, {'connected_gene': 'SH3PXD2A', 'score': 0.1}]