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
ENST00000423026 [[50700210, 50701952], [50709680, 50709832], [50711307, 50711446], [50715100, 50715223]] [[50701925, 50701952], [50709680, 50709832], [50711307, 50711437]]
ENST00000300590 [[50700210, 50703059], [50709680, 50709832], [50711307, 50711446], [50715100, 50715264]] [[50702951, 50703059], [50709680, 50709832], [50711307, 50711437]]
ENST00000568993 [[50700468, 50700827], [50701819, 50703059], [50709680, 50709832], [50711307, 50711446], [50715100, 50715213]] [[50702951, 50703059], [50709680, 50709832], [50711307, 50711437]]
ENST00000330943 [[50705535, 50707985], [50709680, 50709832], [50711307, 50711446], [50715100, 50715263]] [[50707316, 50707985], [50709680, 50709832], [50711307, 50711437]]
NM_153337 [[50700210, 50703059], [50709680, 50709832], [50711307, 50711446], [50715100, 50715264]] [[50702951, 50703059], [50709680, 50709832], [50711307, 50711437]]
NM_001144972 [[50700210, 50701952], [50709680, 50709832], [50711307, 50711446], [50715100, 50715264]] [[50701925, 50701952], [50709680, 50709832], [50711307, 50711437]]
NM_182854 [[50705535, 50707985], [50709680, 50709832], [50711307, 50711446], [50715100, 50715264]] [[50707316, 50707985], [50709680, 50709832], [50711307, 50711437]]
Promoter
Chrom Start End Description
chr16 50715147 50715154 CAGE_peak_4_at_SNX20_5end
chr16 50715172 50715194 CAGE_peak_2_at_SNX20_5end
chr16 50715196 50715235 CAGE_peak_1_at_SNX20_5end
chr16 50715239 50715250 CAGE_peak_3_at_SNX20_5end
chr16 50715635 50715648 CAGE_peak_6_at_SNX20_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I050675 50674359 50674851 0.46 [{'connected_gene': 'PAPD5', 'score': 9.79}, {'connected_gene': 'LOC101927272', 'score': 0.44}, {'connected_gene': 'SNX20', 'score': 0.44}]
chr16 GH16I050151 50151808 50156359 2.08 [{'connected_gene': 'PAPD5', 'score': 550.77}, {'connected_gene': 'LOC101927250', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 22.86}, {'connected_gene': 'SNX20', 'score': 11.66}, {'connected_gene': 'CNEP1R1', 'score': 10.71}, {'connected_gene': 'BRD7', 'score': 9.48}, {'connected_gene': 'GC16M050159', 'score': 0.29}]
chr16 GH16I050702 50702001 50704090 0.85 [{'connected_gene': 'NOD2', 'score': 16.22}, {'connected_gene': 'CYLD', 'score': 3.43}, {'connected_gene': 'SNX20', 'score': 3.08}, {'connected_gene': 'ADCY7', 'score': 1.34}, {'connected_gene': 'PIR45400', 'score': 0.77}, {'connected_gene': 'GC16P050707', 'score': 0.77}]
chr16 GH16I050695 50695230 50700663 2.66 [{'connected_gene': 'NOD2', 'score': 611.99}, {'connected_gene': 'SNX20', 'score': 21.2}, {'connected_gene': 'CYLD', 'score': 10.32}, {'connected_gene': 'ADCY7', 'score': 3.43}, {'connected_gene': 'PIR45400', 'score': 0.44}, {'connected_gene': 'GC16P050707', 'score': 0.44}]
chr16 GH16I050721 50721508 50723060 0.83 [{'connected_gene': 'NOD2', 'score': 12.79}, {'connected_gene': 'SNX20', 'score': 12.46}, {'connected_gene': 'CYLD', 'score': 5.64}, {'connected_gene': 'ENSG00000270120', 'score': 0.44}]
chr16 GH16I050718 50718872 50720317 0.92 [{'connected_gene': 'NOD2', 'score': 13.28}, {'connected_gene': 'SNX20', 'score': 13.18}, {'connected_gene': 'ENSG00000270120', 'score': 0.44}, {'connected_gene': 'CYLD', 'score': 0.34}]
chr16 GH16I050671 50671770 50671919 0.89 [{'connected_gene': 'NOD2', 'score': 8.16}, {'connected_gene': 'LOC101927272', 'score': 0.44}, {'connected_gene': 'SNX20', 'score': 0.44}]
chr16 GH16I050280 50280460 50285305 1.48 [{'connected_gene': 'HEATR3', 'score': 4.55}, {'connected_gene': 'ADCY7', 'score': 4.15}, {'connected_gene': 'CYLD', 'score': 1.87}, {'connected_gene': 'PAPD5', 'score': 1.62}, {'connected_gene': 'NOD2', 'score': 1.43}, {'connected_gene': 'CNEP1R1', 'score': 1.38}, {'connected_gene': 'SNX20', 'score': 1.29}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16 GH16I050367 50367417 50370159 2.25 [{'connected_gene': 'BRD7', 'score': 588.44}, {'connected_gene': 'ENSG00000261393', 'score': 550.77}, {'connected_gene': 'ZNF423', 'score': 20.24}, {'connected_gene': 'PAPD5', 'score': 14.25}, {'connected_gene': 'SNX20', 'score': 11.68}]
chr16 GH16I050740 50740629 50748340 2.69 [{'connected_gene': 'CYLD', 'score': 561.57}, {'connected_gene': 'LOC102724907', 'score': 560.98}, {'connected_gene': 'NOD2', 'score': 38.31}, {'connected_gene': 'PAPD5', 'score': 19.54}, {'connected_gene': 'SNX20', 'score': 18.92}, {'connected_gene': 'BRD7', 'score': 10.1}, {'connected_gene': 'ADCY7', 'score': 2.35}, {'connected_gene': 'MIR3181', 'score': 0.77}, {'connected_gene': 'LOC105371251', 'score': 0.21}]
chr16 GH16I050759 50759335 50765442 0.59 [{'connected_gene': 'SNX20', 'score': 12.17}, {'connected_gene': 'PAPD5', 'score': 11.21}, {'connected_gene': 'BRD7', 'score': 10.17}, {'connected_gene': 'NOD2', 'score': 9.86}, {'connected_gene': 'LOC102724907', 'score': 9.52}, {'connected_gene': 'CYLD', 'score': 0.34}, {'connected_gene': 'LOC105371251', 'score': 0.26}]
chr16 GH16I050678 50678224 50686983 2.58 [{'connected_gene': 'SNX20', 'score': 581.45}, {'connected_gene': 'NOD2', 'score': 59.37}, {'connected_gene': 'BRD7', 'score': 19.9}, {'connected_gene': 'CYLD', 'score': 10.73}, {'connected_gene': 'ADCY7', 'score': 2.75}]
chr16 GH16I050724 50724464 50724826 0.46 [{'connected_gene': 'SNX20', 'score': 17.89}, {'connected_gene': 'NOD2', 'score': 12.26}, {'connected_gene': 'BRD7', 'score': 9.54}, {'connected_gene': 'CYLD', 'score': 5.72}, {'connected_gene': 'ENSG00000270120', 'score': 0.39}]
chr16 GH16I050731 50731175 50732291 0.69 [{'connected_gene': 'SNX20', 'score': 11.99}, {'connected_gene': 'NOD2', 'score': 11.45}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'ENSG00000270120', 'score': 0.37}]
chr16 GH16I050752 50752088 50754410 0.2 [{'connected_gene': 'SNX20', 'score': 12.01}, {'connected_gene': 'BRD7', 'score': 10.38}, {'connected_gene': 'NOD2', 'score': 9.95}, {'connected_gene': 'ENSG00000205414', 'score': 9.56}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'LOC105371251', 'score': 0.23}]
chr16 GH16I050756 50756019 50757652 0.31 [{'connected_gene': 'SNX20', 'score': 12.18}, {'connected_gene': 'BRD7', 'score': 10.38}, {'connected_gene': 'NOD2', 'score': 9.94}, {'connected_gene': 'ENSG00000205414', 'score': 9.55}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'LOC105371251', 'score': 0.25}]
chr16 GH16I050775 50775704 50776557 0.2 [{'connected_gene': 'SNX20', 'score': 11.59}, {'connected_gene': 'BRD7', 'score': 9.98}, {'connected_gene': 'ENSG00000205414', 'score': 9.72}, {'connected_gene': 'LOC105371251', 'score': 0.31}, {'connected_gene': 'CYLD', 'score': 0.29}, {'connected_gene': 'LOC102724907', 'score': 0.29}]
chr16 GH16I050657 50657390 50657539 0.46 [{'connected_gene': 'SNX20', 'score': 12.42}, {'connected_gene': 'ENSG00000205414', 'score': 10.63}, {'connected_gene': 'BRD7', 'score': 10.63}, {'connected_gene': 'LOC101927272', 'score': 0.44}, {'connected_gene': 'GC16P050646', 'score': 0.39}]
chr16 GH16I050735 50735790 50735939 0.77 [{'connected_gene': 'SNX20', 'score': 11.99}, {'connected_gene': 'CYLD', 'score': 0.44}, {'connected_gene': 'LOC102724907', 'score': 0.44}, {'connected_gene': 'ENSG00000270120', 'score': 0.34}]
chr16 GH16I050814 50814444 50815745 0.6 [{'connected_gene': 'SNX20', 'score': 6.03}, {'connected_gene': 'LINC02168', 'score': 0.44}, {'connected_gene': 'GC16M050828', 'score': 0.37}]
chr16 GH16I050666 50666546 50669297 1.22 [{'connected_gene': 'LOC101927272', 'score': 550.77}, {'connected_gene': 'NOD2', 'score': 7.96}, {'connected_gene': 'SNX20', 'score': 0.39}]
chr16 GH16I050674 50674858 50676666 0.2 [{'connected_gene': 'LOC101927272', 'score': 0.44}, {'connected_gene': 'SNX20', 'score': 0.44}]

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