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
ENST00000369755 [[105726958, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105770573, 105770666], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105788991]] [[105727503, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105770573, 105770666], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105785478]]
ENST00000335753 [[105726958, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105788991]] [[105727503, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105785478]]
ENST00000474260 [[105767955, 105768114], [105777917, 105778047], [105778541, 105778874]] None
NM_001304743 [[105726942, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105788991]] [[105727503, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105785478]]
NM_014720 [[105726942, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105770573, 105770666], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105788991]] [[105727503, 105727653], [105750432, 105750597], [105752355, 105752404], [105752741, 105752891], [105758656, 105758729], [105758876, 105759071], [105759624, 105759706], [105761201, 105761330], [105761929, 105763285], [105765318, 105765449], [105765669, 105765793], [105767934, 105768114], [105770573, 105770666], [105777917, 105778047], [105778541, 105778666], [105779491, 105779680], [105780245, 105780371], [105781377, 105781491], [105785331, 105785478]]
Promoter
Chrom Start End Description
chr10 105726862 105726986 CAGE_peak_1_at_SLK_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 GH10I104316 104316368 104341174 2.81 [{'connected_gene': 'ITPRIP', 'score': 578.89}, {'connected_gene': 'GSTO2', 'score': 20.11}, {'connected_gene': 'PDCD11', 'score': 19.85}, {'connected_gene': 'CFAP58', 'score': 18.41}, {'connected_gene': 'SFR1', 'score': 15.41}, {'connected_gene': 'CFAP58-AS1', 'score': 12.26}, {'connected_gene': 'PCGF6', 'score': 10.39}, {'connected_gene': 'TAF5', 'score': 10.36}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'GSTO1', 'score': 9.75}, {'connected_gene': 'SLK', 'score': 3.03}, {'connected_gene': 'LOC101927472', 'score': 0.44}]
chr10 GH10I103349 103349963 103351835 1.98 [{'connected_gene': 'PCGF6', 'score': 561.14}, {'connected_gene': 'PDCD11', 'score': 24.51}, {'connected_gene': 'ENSG00000260461', 'score': 20.94}, {'connected_gene': 'SLK', 'score': 12.1}, {'connected_gene': 'MIR1307', 'score': 11.49}, {'connected_gene': 'ATP5MD', 'score': 11.47}, {'connected_gene': 'RNU11-3P', 'score': 10.74}, {'connected_gene': 'NEURL1-AS1', 'score': 9.94}, {'connected_gene': 'CALHM2', 'score': 6.56}, {'connected_gene': 'GC10M103313', 'score': 0.28}]
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 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 GH10I103367 103367163 103369346 2.07 [{'connected_gene': 'TAF5', 'score': 561.11}, {'connected_gene': 'PDCD11', 'score': 21.43}, {'connected_gene': 'SFXN2', 'score': 13.66}, {'connected_gene': 'SLK', 'score': 13.12}, {'connected_gene': 'ENSG00000260461', 'score': 11.98}, {'connected_gene': 'CALHM2', 'score': 11.37}, {'connected_gene': 'GC10P103388', 'score': 0.34}]
chr10 GH10I103665 103665063 103669847 1.53 [{'connected_gene': 'PDCD11', 'score': 18.23}, {'connected_gene': 'SH3PXD2A', 'score': 12.35}, {'connected_gene': 'PCGF6', 'score': 11.95}, {'connected_gene': 'SLK', 'score': 11.42}, {'connected_gene': 'BORCS7', 'score': 6.61}, {'connected_gene': 'GSTO2', 'score': 5.16}, {'connected_gene': 'ENSG00000222503', 'score': 0.44}, {'connected_gene': 'PIR41281', 'score': 0.28}]
chr10 GH10I104348 104348741 104354232 2.53 [{'connected_gene': 'CFAP58', 'score': 575.17}, {'connected_gene': 'ITPRIP', 'score': 27.03}, {'connected_gene': 'PDCD11', 'score': 11.74}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'SFR1', 'score': 4.21}, {'connected_gene': 'GSTO1', 'score': 2.05}, {'connected_gene': 'SLK', 'score': 1.73}, {'connected_gene': 'CFAP58-AS1', 'score': 0.77}]
chr10 GH10I104060 104059383 104059592 0.54 [{'connected_gene': 'COL17A1', 'score': 11.04}, {'connected_gene': 'SFR1', 'score': 10.27}, {'connected_gene': 'SLK', 'score': 9.89}, {'connected_gene': 'MIR936', 'score': 0.39}, {'connected_gene': 'GC10M104086', 'score': 0.31}, {'connected_gene': 'GC10M104085', 'score': 0.31}]
chr10 GH10I104089 104089674 104089971 0.48 [{'connected_gene': 'SFR1', 'score': 59.98}, {'connected_gene': 'GSTO1', 'score': 5.77}, {'connected_gene': 'CFAP58', 'score': 5.6}, {'connected_gene': 'SLK', 'score': 1.78}, {'connected_gene': 'COL17A1', 'score': 0.77}]
chr10 GH10I104032 104032351 104032800 0.4 [{'connected_gene': 'SFR1', 'score': 10.97}, {'connected_gene': 'COL17A1', 'score': 10.2}, {'connected_gene': 'SLK', 'score': 5.83}, {'connected_gene': 'MIR936', 'score': 0.37}, {'connected_gene': 'RN7SL524P', 'score': 0.22}]
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 GH10I104258 104258914 104261909 1.46 [{'connected_gene': 'GSTO2', 'score': 35.57}, {'connected_gene': 'GSTO1', 'score': 23.89}, {'connected_gene': 'MIR609', 'score': 10.65}, {'connected_gene': 'SFR1', 'score': 7.72}, {'connected_gene': 'SLK', 'score': 3.56}, {'connected_gene': 'CFAP58', 'score': 3.53}, {'connected_gene': 'ITPRIP', 'score': 1.24}, {'connected_gene': 'GC10M104249', 'score': 0.44}, {'connected_gene': 'MIR4482', 'score': 0.44}]
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 GH10I104027 104027743 104027890 0.2 [{'connected_gene': 'MIR936', 'score': 11.7}, {'connected_gene': 'SLK', 'score': 10.38}, {'connected_gene': 'RN7SL524P', 'score': 0.23}]
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 GH10I103691 103691402 103691832 1.29 [{'connected_gene': 'ENSG00000260461', 'score': 19.79}, {'connected_gene': 'PCGF6', 'score': 18.95}, {'connected_gene': 'SFR1', 'score': 12.58}, {'connected_gene': 'SLK', 'score': 12.14}, {'connected_gene': 'SH3PXD2A', 'score': 11.06}, {'connected_gene': 'NEURL1', 'score': 10.15}, {'connected_gene': 'NEURL1-AS1', 'score': 9.95}, {'connected_gene': 'INA', 'score': 1.62}, {'connected_gene': 'ENSG00000222503', 'score': 0.37}, {'connected_gene': 'GC10M103742', 'score': 0.23}]
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 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}]