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
ENST00000301691 [[41831098, 41833131], [41835889, 41836156]] [[41832709, 41833131], [41835889, 41836109]]
NM_025237 [[41831098, 41833131], [41835889, 41836156]] [[41832709, 41833131], [41835889, 41836109]]
Promoter
Chrom Start End Description
chr17 41836153 41836161 CAGE_peak_1_at_SOST_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I043702 43702793 43702942 0.65 [{'connected_gene': 'SOST', 'score': 11.68}, {'connected_gene': 'MEOX1', 'score': 10.55}, {'connected_gene': 'WHSC1L2P', 'score': 0.37}, {'connected_gene': 'LOC105371786', 'score': 0.29}]
chr17 GH17I043700 43700633 43701843 0.75 [{'connected_gene': 'SOST', 'score': 18.2}, {'connected_gene': 'MEOX1', 'score': 10.57}, {'connected_gene': 'WHSC1L2P', 'score': 0.37}, {'connected_gene': 'LOC105371786', 'score': 0.29}]
chr17 GH17I043723 43723033 43723182 0.31 [{'connected_gene': 'SOST', 'score': 11.55}, {'connected_gene': 'MEOX1', 'score': 10.51}, {'connected_gene': 'WHSC1L2P', 'score': 0.77}, {'connected_gene': 'PIR44007', 'score': 0.77}, {'connected_gene': 'GC17P043726', 'score': 0.77}]
chr17 GH17I043749 43749550 43750371 0.83 [{'connected_gene': 'SOST', 'score': 14.43}, {'connected_gene': 'MEOX1', 'score': 10.51}, {'connected_gene': 'GC17M043742', 'score': 0.77}, {'connected_gene': 'GC17M043734', 'score': 0.31}]
chr17 GH17I043760 43760013 43760922 1.19 [{'connected_gene': 'SOST', 'score': 562.59}, {'connected_gene': 'DUSP3', 'score': 4.61}, {'connected_gene': 'GC17M043734', 'score': 0.39}]
chr17 GH17I043713 43713201 43714820 0.98 [{'connected_gene': 'SOST', 'score': 6.69}, {'connected_gene': 'LOC105371786', 'score': 5.57}, {'connected_gene': 'WHSC1L2P', 'score': 0.44}]
chr17 GH17I043732 43732547 43735142 0.59 [{'connected_gene': 'SOST', 'score': 10.37}, {'connected_gene': 'GC17P043729', 'score': 0.44}, {'connected_gene': 'GC17M043742', 'score': 0.39}, {'connected_gene': 'GC17M043734', 'score': 0.26}]
chr17 GH17I043753 43753633 43753782 0.74 [{'connected_gene': 'SOST', 'score': 0.44}, {'connected_gene': 'GC17M043742', 'score': 0.44}, {'connected_gene': 'GC17M043734', 'score': 0.34}]
chr17 GH17I043754 43754905 43756000 0.69 [{'connected_gene': 'SOST', 'score': 0.77}, {'connected_gene': 'GC17M043742', 'score': 0.44}, {'connected_gene': 'GC17M043734', 'score': 0.37}]
chr17 GH17I043758 43758778 43758837 0.92 [{'connected_gene': 'SOST', 'score': 550.77}, {'connected_gene': 'GC17M043734', 'score': 0.37}]
chr17 GH17I043803 43803358 43804569 0.31 [{'connected_gene': 'MPP3', 'score': 12.44}, {'connected_gene': 'DUSP3', 'score': 11.27}, {'connected_gene': 'CFAP97D1', 'score': 11.24}, {'connected_gene': 'SOST', 'score': 10.64}, {'connected_gene': 'MEOX1', 'score': 9.83}, {'connected_gene': 'ENSG00000221044', 'score': 8.82}, {'connected_gene': 'PIR46069', 'score': 0.37}]
chr17 GH17I043659 43659801 43663601 1.55 [{'connected_gene': 'MEOX1', 'score': 550.77}, {'connected_gene': 'SOST', 'score': 10.5}, {'connected_gene': 'RNU6-1137P', 'score': 10.27}, {'connected_gene': 'ETV4', 'score': 6.39}, {'connected_gene': 'MIR2117HG', 'score': 5.12}, {'connected_gene': 'GC17P043657', 'score': 0.77}]
chr17 GH17I043616 43616913 43617062 0.46 [{'connected_gene': 'MEOX1', 'score': 11.97}, {'connected_gene': 'SOST', 'score': 10.3}, {'connected_gene': 'MIR2117', 'score': 9.64}, {'connected_gene': 'RNU6-406P', 'score': 9.64}, {'connected_gene': 'RPL27', 'score': 4.36}, {'connected_gene': 'ENSG00000278109', 'score': 0.44}, {'connected_gene': 'GC17P043657', 'score': 0.28}]
chr17 GH17I043768 43768318 43769000 0.72 [{'connected_gene': 'MEOX1', 'score': 10.55}, {'connected_gene': 'MPP3', 'score': 9.79}, {'connected_gene': 'RNU6-1137P', 'score': 9.12}, {'connected_gene': 'SOST', 'score': 0.44}, {'connected_gene': 'GC17M043734', 'score': 0.44}, {'connected_gene': 'DUSP3', 'score': 0.39}]
chr17 GH17I043772 43772073 43772222 0.82 [{'connected_gene': 'MEOX1', 'score': 10.39}, {'connected_gene': 'GC17M043734', 'score': 0.77}, {'connected_gene': 'DUSP3', 'score': 0.44}, {'connected_gene': 'SOST', 'score': 0.39}]
chr17 GH17I043791 43791713 43791902 0.84 [{'connected_gene': 'ASB16-AS1', 'score': 11.86}, {'connected_gene': 'UBTF', 'score': 11.61}, {'connected_gene': 'DHX8', 'score': 11.18}, {'connected_gene': 'HMGN1P29', 'score': 10.18}, {'connected_gene': 'ENSG00000221044', 'score': 9.32}, {'connected_gene': 'SOST', 'score': 5.21}, {'connected_gene': 'PIR46069', 'score': 0.44}, {'connected_gene': 'MPP3', 'score': 0.26}]
chr17 GH17I043582 43581282 43582182 0.84 [{'connected_gene': 'ETV4', 'score': 21.4}, {'connected_gene': 'MEOX1', 'score': 11.45}, {'connected_gene': 'SOST', 'score': 10.69}, {'connected_gene': 'MIR2117', 'score': 9.87}, {'connected_gene': 'RNU6-406P', 'score': 9.87}, {'connected_gene': 'ENSG00000278109', 'score': 0.31}, {'connected_gene': 'ENSG00000267747', 'score': 0.28}, {'connected_gene': 'GC17P043560', 'score': 0.13}]
chr17 GH17I043583 43583589 43585642 1.05 [{'connected_gene': 'ETV4', 'score': 20.29}, {'connected_gene': 'MEOX1', 'score': 11.58}, {'connected_gene': 'GPATCH8', 'score': 10.71}, {'connected_gene': 'DHX8', 'score': 10.7}, {'connected_gene': 'SOST', 'score': 10.69}, {'connected_gene': 'MIR2117', 'score': 9.87}, {'connected_gene': 'RNU6-406P', 'score': 9.87}, {'connected_gene': 'ENSG00000278109', 'score': 0.34}, {'connected_gene': 'ENSG00000267747', 'score': 0.28}, {'connected_gene': 'GC17P043560', 'score': 0.13}]
chr17 GH17I043524 43524806 43532495 1.76 [{'connected_gene': 'ETV4', 'score': 591.62}, {'connected_gene': 'RPL29P31', 'score': 12.91}, {'connected_gene': 'MEOX1', 'score': 10.95}, {'connected_gene': 'MIR2117HG', 'score': 10.7}, {'connected_gene': 'RNU6-406P', 'score': 10.38}, {'connected_gene': 'MIR2117', 'score': 9.96}, {'connected_gene': 'SOST', 'score': 9.77}, {'connected_gene': 'GC17P043522', 'score': 0.44}, {'connected_gene': 'PIR45394', 'score': 0.44}, {'connected_gene': 'ENSG00000267747', 'score': 0.37}, {'connected_gene': 'DHX8', 'score': 0.26}, {'connected_gene': 'GC17P043560', 'score': 0.21}]
chr17 GH17I043822 43822792 43824223 0.31 [{'connected_gene': 'DUSP3', 'score': 11.38}, {'connected_gene': 'CFAP97D1', 'score': 11.36}, {'connected_gene': 'SOST', 'score': 10.18}, {'connected_gene': 'MEOX1', 'score': 10.09}, {'connected_gene': 'MPP3', 'score': 9.72}, {'connected_gene': 'RNU6-1137P', 'score': 9.04}, {'connected_gene': 'PIR46069', 'score': 0.28}]
chr17 GH17I043777 43777290 43780022 2.03 [{'connected_gene': 'DUSP3', 'score': 557.64}, {'connected_gene': 'PIR48941', 'score': 550.77}, {'connected_gene': 'CFAP97D1', 'score': 550.77}, {'connected_gene': 'ASB16-AS1', 'score': 43.97}, {'connected_gene': 'UBTF', 'score': 40.91}, {'connected_gene': 'HMGN1P29', 'score': 30.89}, {'connected_gene': 'TMUB2', 'score': 27.56}, {'connected_gene': 'DHX8', 'score': 25.81}, {'connected_gene': 'ENSG00000267340', 'score': 22.49}, {'connected_gene': 'LINC00910', 'score': 20.59}, {'connected_gene': 'NBR2', 'score': 18.54}, {'connected_gene': 'ENSG00000267002', 'score': 12.76}, {'connected_gene': 'C17orf53', 'score': 12.41}, {'connected_gene': 'ENSG00000260793', 'score': 10.93}, {'connected_gene': 'PSME3', 'score': 10.32}, {'connected_gene': 'SOST', 'score': 5.14}]
chr17 GH17I043562 43562780 43563532 0.89 [{'connected_gene': 'DHX8', 'score': 10.9}, {'connected_gene': 'MEOX1', 'score': 10.82}, {'connected_gene': 'RNU6-1137P', 'score': 10.28}, {'connected_gene': 'SOST', 'score': 10.27}, {'connected_gene': 'ARL4D', 'score': 10.16}, {'connected_gene': 'RNU6-406P', 'score': 9.86}, {'connected_gene': 'MIR2117', 'score': 9.54}, {'connected_gene': 'RAMP2', 'score': 4.01}, {'connected_gene': 'ETV4', 'score': 0.37}, {'connected_gene': 'ENSG00000267747', 'score': 0.37}, {'connected_gene': 'GC17P043560', 'score': 0.15}]
chr17 GH17I043846 43846196 43846982 0.83 [{'connected_gene': 'CD300LG', 'score': 550.77}, {'connected_gene': 'CFAP97D1', 'score': 10.95}, {'connected_gene': 'DUSP3', 'score': 10.95}, {'connected_gene': 'SOST', 'score': 10.66}, {'connected_gene': 'ENSG00000221044', 'score': 9.74}, {'connected_gene': 'MPP3', 'score': 0.39}]
chr17 GH17I043664 43664752 43671335 1.22 [{'connected_gene': 'LOC105371786', 'score': 550.77}, {'connected_gene': 'ENSG00000267340', 'score': 11.79}, {'connected_gene': 'ENSG00000267002', 'score': 11.18}, {'connected_gene': 'SOST', 'score': 11.03}, {'connected_gene': 'RNU6-406P', 'score': 10.67}, {'connected_gene': 'RNU6-1137P', 'score': 10.27}, {'connected_gene': 'GPATCH8', 'score': 10.04}, {'connected_gene': 'ETV4', 'score': 6.1}, {'connected_gene': 'MIR2117HG', 'score': 4.53}, {'connected_gene': 'MEOX1', 'score': 0.44}, {'connected_gene': 'GC17P043657', 'score': 0.39}]
chr17 GH17I043671 43671493 43671642 0.89 [{'connected_gene': 'LOC105371786', 'score': 550.77}, {'connected_gene': 'SOST', 'score': 11.04}, {'connected_gene': 'NBR2', 'score': 4.46}, {'connected_gene': 'GC17P043657', 'score': 0.39}, {'connected_gene': 'WHSC1L2P', 'score': 0.25}]
chr17 GH17I043516 43516982 43518222 0.87 [{'connected_gene': 'NBR2', 'score': 12.96}, {'connected_gene': 'ENSG00000267340', 'score': 12.43}, {'connected_gene': 'ETV4', 'score': 12.2}, {'connected_gene': 'DHX8', 'score': 11.88}, {'connected_gene': 'RNU6-1137P', 'score': 10.64}, {'connected_gene': 'ENSG00000267002', 'score': 10.63}, {'connected_gene': 'LINC00910', 'score': 10.6}, {'connected_gene': 'RNU2-4P', 'score': 10.59}, {'connected_gene': 'ARL4D', 'score': 10.57}, {'connected_gene': 'SOST', 'score': 10.02}, {'connected_gene': 'GC17P043522', 'score': 0.77}, {'connected_gene': 'PIR45394', 'score': 0.77}, {'connected_gene': 'GC17M043486', 'score': 0.29}, {'connected_gene': 'GC17P043560', 'score': 0.23}]
chr17 GH17I043719 43719404 43722039 1.68 [{'connected_gene': 'WHSC1L2P', 'score': 550.77}, {'connected_gene': 'TMEM106A', 'score': 25.12}, {'connected_gene': 'SOST', 'score': 18.12}, {'connected_gene': 'MEOX1', 'score': 10.49}, {'connected_gene': 'LOC105371786', 'score': 5.52}, {'connected_gene': 'DUSP3', 'score': 1.77}, {'connected_gene': 'DHX8', 'score': 1.52}, {'connected_gene': 'TMUB2', 'score': 1.12}, {'connected_gene': 'GC17P043726', 'score': 0.44}, {'connected_gene': 'PIR44007', 'score': 0.44}]
chr17 GH17I043783 43783673 43785338 0.69 [{'connected_gene': 'PIR46069', 'score': 550.77}, {'connected_gene': 'ENSG00000267604', 'score': 550.77}, {'connected_gene': 'UBTF', 'score': 24.8}, {'connected_gene': 'ENSG00000267340', 'score': 20.21}, {'connected_gene': 'ASB16-AS1', 'score': 12.32}, {'connected_gene': 'TMUB2', 'score': 11.83}, {'connected_gene': 'DHX8', 'score': 10.47}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'HMGN1P29', 'score': 10.27}, {'connected_gene': 'SOST', 'score': 5.07}, {'connected_gene': 'PIR48941', 'score': 0.77}, {'connected_gene': 'CFAP97D1', 'score': 0.44}]
chr17 GH17I043773 43772261 43773904 0.99 [{'connected_gene': 'GC17M043734', 'score': 550.77}, {'connected_gene': 'MEOX1', 'score': 10.39}, {'connected_gene': 'MPP3', 'score': 10.1}, {'connected_gene': 'DUSP3', 'score': 7.11}, {'connected_gene': 'SOST', 'score': 0.39}]
chr17 GH17I043724 43723593 43724377 0.87 [{'connected_gene': 'GC17P043726', 'score': 550.77}, {'connected_gene': 'PIR44007', 'score': 550.77}, {'connected_gene': 'ASB16-AS1', 'score': 17.33}, {'connected_gene': 'SOST', 'score': 17.33}, {'connected_gene': 'TMUB2', 'score': 13.18}, {'connected_gene': 'DHX8', 'score': 12.03}, {'connected_gene': 'UBTF', 'score': 10.69}, {'connected_gene': 'MEOX1', 'score': 10.51}, {'connected_gene': 'ENSG00000267340', 'score': 9.98}, {'connected_gene': 'CFAP97D1', 'score': 6.02}, {'connected_gene': 'WHSC1L2P', 'score': 0.77}]
chr17 GH17I043520 43520693 43520842 0.82 [{'connected_gene': 'GC17P043522', 'score': 550.77}, {'connected_gene': 'PIR45394', 'score': 550.77}, {'connected_gene': 'ETV4', 'score': 12.4}, {'connected_gene': 'MEOX1', 'score': 10.95}, {'connected_gene': 'RNU6-406P', 'score': 10.39}, {'connected_gene': 'MIR2117', 'score': 9.97}, {'connected_gene': 'SOST', 'score': 9.76}, {'connected_gene': 'GC17M043486', 'score': 0.29}, {'connected_gene': 'DHX8', 'score': 0.28}, {'connected_gene': 'GC17P043560', 'score': 0.23}]
chr17 GH17I043774 43774151 43774523 0.2 [{'connected_gene': 'GC17M043734', 'score': 550.77}, {'connected_gene': 'DUSP3', 'score': 0.77}, {'connected_gene': 'SOST', 'score': 0.37}]

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