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
ENST00000553219 [[53662082, 53662161], [53662538, 53662631], [53662807, 53663349]] [[53662550, 53662631], [53662807, 53663349]]
ENST00000257934 [[53662082, 53662161], [53662538, 53662631], [53662807, 53663869], [53664161, 53664266], [53664461, 53664582], [53666504, 53666641], [53668600, 53668794], [53670403, 53670643], [53670866, 53671011], [53671253, 53671392], [53671604, 53671744], [53673515, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53679707, 53680696], [53681755, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683378], [53683868, 53683996], [53684130, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687427]] [[53662550, 53662631], [53662807, 53663869], [53664161, 53664266], [53664461, 53664582], [53666504, 53666641], [53668600, 53668794], [53670403, 53670643], [53670866, 53671011], [53671253, 53671392], [53671604, 53671744], [53673515, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53679707, 53680696], [53681755, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683378], [53683868, 53683996], [53684130, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687258]]
ENST00000552671 [[53662116, 53662161], [53662538, 53662712], [53662807, 53663869], [53664161, 53664266], [53664461, 53664582], [53666504, 53666641], [53668600, 53668794], [53670403, 53670643], [53670866, 53671011], [53671253, 53671392], [53671604, 53671744], [53673515, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53679707, 53680696], [53681755, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683378], [53683868, 53683996], [53684130, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687419]] [[53662550, 53662700]]
ENST00000552462 [[53662118, 53662190], [53662538, 53662631], [53662807, 53663869], [53664161, 53664266], [53664461, 53664582], [53666504, 53666641], [53668600, 53668794], [53670403, 53670643], [53670866, 53671011], [53671253, 53671392], [53671604, 53671744], [53673515, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53679707, 53680696], [53681755, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683378], [53683868, 53683996], [53684130, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687258]] [[53662550, 53662631], [53662807, 53663869], [53664161, 53664266], [53664461, 53664582], [53666504, 53666641], [53668600, 53668794], [53670403, 53670643], [53670866, 53671011], [53671253, 53671392], [53671604, 53671744], [53673515, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53679707, 53680696], [53681755, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683378], [53683868, 53683996], [53684130, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687258]]
ENST00000550026 [[53667864, 53668250], [53668600, 53668736]] None
ENST00000535123 [[53673488, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53681755, 53682108]] None
ENST00000553016 [[53676033, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53681755, 53682125], [53682321, 53682483], [53682873, 53683079]] None
ENST00000549154 [[53681039, 53682125], [53682321, 53683087], [53683187, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687419]] None
ENST00000552600 [[53681664, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683244]] None
NM_012291 [[53662082, 53662161], [53662538, 53662631], [53662807, 53663869], [53664161, 53664266], [53664461, 53664582], [53666504, 53666641], [53668600, 53668794], [53670403, 53670643], [53670866, 53671011], [53671253, 53671392], [53671604, 53671744], [53673515, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53679707, 53680696], [53681755, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683378], [53683868, 53683996], [53684130, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687427]] [[53662550, 53662631], [53662807, 53663869], [53664161, 53664266], [53664461, 53664582], [53666504, 53666641], [53668600, 53668794], [53670403, 53670643], [53670866, 53671011], [53671253, 53671392], [53671604, 53671744], [53673515, 53673650], [53675290, 53675410], [53676047, 53676219], [53676912, 53677041], [53677165, 53677322], [53677841, 53677951], [53679707, 53680696], [53681755, 53682125], [53682321, 53682483], [53682873, 53683087], [53683187, 53683378], [53683868, 53683996], [53684130, 53684253], [53684624, 53684780], [53685473, 53685644], [53685767, 53685872], [53686061, 53686177], [53686357, 53686441], [53686589, 53686754], [53687056, 53687258]]
Promoter
Chrom Start End Description
chr12 53662049 53662061 CAGE_peak_2_at_ESPL1_5end
chr12 53662073 53662105 CAGE_peak_1_at_ESPL1_5end
chr12 53662110 53662121 CAGE_peak_5_at_ESPL1_5end
chr12 53673418 53673427 CAGE_peak_9_at_ESPL1_5end
chr12 53673484 53673496 CAGE_peak_3_at_ESPL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I053287 53287797 53287966 0.71 [{'connected_gene': 'ESPL1', 'score': 39.19}, {'connected_gene': 'MFSD5', 'score': 11.67}, {'connected_gene': 'ITGB7', 'score': 11.24}, {'connected_gene': 'ZNF740', 'score': 11.17}, {'connected_gene': 'CSAD', 'score': 11.17}, {'connected_gene': 'SOAT2', 'score': 9.84}, {'connected_gene': 'IGFBP6', 'score': 9.84}, {'connected_gene': 'PFDN5', 'score': 0.44}]
chr12 GH12I053244 53244156 53244811 0.83 [{'connected_gene': 'ESPL1', 'score': 10.1}, {'connected_gene': 'ENSG00000283536', 'score': 0.77}, {'connected_gene': 'MFSD5', 'score': 0.44}]
chr12 GH12I053190 53190197 53190366 0.77 [{'connected_gene': 'ESPL1', 'score': 10.9}, {'connected_gene': 'SOAT2', 'score': 10.83}, {'connected_gene': 'MFSD5', 'score': 10.8}, {'connected_gene': 'RNU6-333P', 'score': 10.43}, {'connected_gene': 'C12orf10', 'score': 10.17}, {'connected_gene': 'ZNF740', 'score': 0.44}, {'connected_gene': 'CSAD', 'score': 0.44}, {'connected_gene': 'ITGB7', 'score': 0.37}]
chr12 GH12I053187 53187257 53187340 0.38 [{'connected_gene': 'ESPL1', 'score': 10.89}, {'connected_gene': 'SOAT2', 'score': 10.83}, {'connected_gene': 'MFSD5', 'score': 10.8}, {'connected_gene': 'RNU6-333P', 'score': 10.44}, {'connected_gene': 'C12orf10', 'score': 10.16}, {'connected_gene': 'ZNF740', 'score': 0.44}, {'connected_gene': 'CSAD', 'score': 0.44}, {'connected_gene': 'ITGB7', 'score': 0.34}]
chr12 GH12I053267 53267380 53270047 2.06 [{'connected_gene': 'ESPL1', 'score': 590.99}, {'connected_gene': 'AAAS', 'score': 32.73}, {'connected_gene': 'C12orf10', 'score': 18.42}, {'connected_gene': 'ITGB7', 'score': 15.8}, {'connected_gene': 'SP1', 'score': 15.6}, {'connected_gene': 'PCBP2', 'score': 13.62}, {'connected_gene': 'PFDN5', 'score': 11.84}, {'connected_gene': 'ZNF740', 'score': 10.22}, {'connected_gene': 'SOAT2', 'score': 10.12}, {'connected_gene': 'IGFBP6', 'score': 9.98}, {'connected_gene': 'LOC100652999', 'score': 9.78}]
chr12 GH12I053289 53289041 53291356 0.2 [{'connected_gene': 'ESPL1', 'score': 46.02}, {'connected_gene': 'AAAS', 'score': 17.14}, {'connected_gene': 'ITGB7', 'score': 11.58}, {'connected_gene': 'MFSD5', 'score': 11.55}, {'connected_gene': 'RNU6-333P', 'score': 10.32}, {'connected_gene': 'SOAT2', 'score': 10.32}, {'connected_gene': 'IGFBP6', 'score': 9.94}, {'connected_gene': 'AMHR2', 'score': 9.77}, {'connected_gene': 'PFDN5', 'score': 0.44}]
chr12 GH12I053279 53279096 53280239 0.64 [{'connected_gene': 'ESPL1', 'score': 40.56}, {'connected_gene': 'PFDN5', 'score': 0.37}]
chr12 GH12I053186 53186598 53187032 0.46 [{'connected_gene': 'SOAT2', 'score': 11.0}, {'connected_gene': 'RNU6-333P', 'score': 11.0}, {'connected_gene': 'MFSD5', 'score': 10.8}, {'connected_gene': 'C12orf10', 'score': 10.78}, {'connected_gene': 'PFDN5', 'score': 10.76}, {'connected_gene': 'ESPL1', 'score': 10.72}, {'connected_gene': 'IGFBP6', 'score': 10.3}, {'connected_gene': 'AAAS', 'score': 10.0}, {'connected_gene': 'CSAD', 'score': 7.52}, {'connected_gene': 'ZNF740', 'score': 0.44}, {'connected_gene': 'ITGB7', 'score': 0.34}]
chr12 GH12I053320 53320232 53322543 2.12 [{'connected_gene': 'AAAS', 'score': 596.07}, {'connected_gene': 'PIR33338', 'score': 550.77}, {'connected_gene': 'GC12M053328', 'score': 550.77}, {'connected_gene': 'GC12M053329', 'score': 550.77}, {'connected_gene': 'PIR38393', 'score': 550.77}, {'connected_gene': 'ESPL1', 'score': 32.16}, {'connected_gene': 'SP1', 'score': 25.07}, {'connected_gene': 'PCBP2', 'score': 22.4}, {'connected_gene': 'MAP3K12', 'score': 20.26}, {'connected_gene': 'ENSG00000258344', 'score': 19.08}, {'connected_gene': 'ZNF740', 'score': 18.83}, {'connected_gene': 'HNRNPA1', 'score': 13.85}, {'connected_gene': 'C12orf10', 'score': 12.42}, {'connected_gene': 'PFDN5', 'score': 12.39}, {'connected_gene': 'SP7', 'score': 12.29}, {'connected_gene': 'RARG', 'score': 11.29}, {'connected_gene': 'ENSG00000257808', 'score': 11.03}, {'connected_gene': 'AMHR2', 'score': 10.85}, {'connected_gene': 'ITGB7', 'score': 10.84}, {'connected_gene': 'CBX5', 'score': 10.82}, {'connected_gene': 'MFSD5', 'score': 10.55}, {'connected_gene': 'TARBP2', 'score': 10.13}, {'connected_gene': 'NPFF', 'score': 10.12}, {'connected_gene': 'LOC100652999', 'score': 9.8}, {'connected_gene': 'SOAT2', 'score': 9.78}, {'connected_gene': 'IGFBP6', 'score': 9.68}, {'connected_gene': 'ATP5MC2', 'score': 5.76}, {'connected_gene': 'GC12M053303', 'score': 0.77}, {'connected_gene': 'PIR50020', 'score': 0.39}]
chr12 GH12I053478 53478655 53479670 0.6 [{'connected_gene': 'MAP3K12', 'score': 11.74}, {'connected_gene': 'TARBP2', 'score': 11.74}, {'connected_gene': 'NPFF', 'score': 11.71}, {'connected_gene': 'AAAS', 'score': 11.16}, {'connected_gene': 'AMHR2', 'score': 10.92}, {'connected_gene': 'C12orf10', 'score': 10.11}, {'connected_gene': 'PFDN5', 'score': 10.07}, {'connected_gene': 'SOAT2', 'score': 9.31}, {'connected_gene': 'IGFBP6', 'score': 9.17}, {'connected_gene': 'ESPL1', 'score': 6.68}, {'connected_gene': 'ENSG00000273658', 'score': 0.39}, {'connected_gene': 'PCBP2', 'score': 0.31}]
chr12 GH12I053192 53192734 53194172 0.43 [{'connected_gene': 'RARG', 'score': 11.36}, {'connected_gene': 'ESPL1', 'score': 10.81}, {'connected_gene': 'MFSD5', 'score': 10.74}, {'connected_gene': 'SOAT2', 'score': 10.61}, {'connected_gene': 'AAAS', 'score': 9.88}, {'connected_gene': 'IGFBP6', 'score': 9.59}, {'connected_gene': 'CSAD', 'score': 5.21}, {'connected_gene': 'ZNF740', 'score': 0.39}, {'connected_gene': 'ITGB7', 'score': 0.39}]
chr12 GH12I053229 53229012 53237380 2.37 [{'connected_gene': 'RARG', 'score': 550.77}, {'connected_gene': 'KRT7-AS', 'score': 10.5}, {'connected_gene': 'ESPL1', 'score': 9.57}, {'connected_gene': 'C12orf10', 'score': 5.9}, {'connected_gene': 'AAAS', 'score': 4.88}, {'connected_gene': 'SOAT2', 'score': 4.36}, {'connected_gene': 'ENSG00000283536', 'score': 0.44}]
chr12 GH12I053485 53485912 53488110 0.59 [{'connected_gene': 'PRR13', 'score': 24.35}, {'connected_gene': 'AMHR2', 'score': 10.94}, {'connected_gene': 'AAAS', 'score': 10.54}, {'connected_gene': 'ATF7', 'score': 9.57}, {'connected_gene': 'ESPL1', 'score': 7.46}, {'connected_gene': 'PFDN5', 'score': 4.73}, {'connected_gene': 'MAP3K12', 'score': 0.39}, {'connected_gene': 'ENSG00000273658', 'score': 0.34}]
chr12 GH12I053294 53294424 53300934 2.3 [{'connected_gene': 'PFDN5', 'score': 550.77}, {'connected_gene': 'PIR44034', 'score': 550.77}, {'connected_gene': 'PIR39957', 'score': 550.77}, {'connected_gene': 'C12orf10', 'score': 550.77}, {'connected_gene': 'ESPL1', 'score': 48.18}, {'connected_gene': 'AAAS', 'score': 32.97}, {'connected_gene': 'ZNF740', 'score': 21.32}, {'connected_gene': 'ATP5MC2', 'score': 12.98}, {'connected_gene': 'ENSG00000257605', 'score': 12.66}, {'connected_gene': 'MFSD5', 'score': 11.47}, {'connected_gene': 'SP1', 'score': 11.36}, {'connected_gene': 'ITGB7', 'score': 11.23}, {'connected_gene': 'ENSG00000257808', 'score': 11.06}, {'connected_gene': 'HNRNPA1', 'score': 10.76}, {'connected_gene': 'PCBP2', 'score': 10.6}, {'connected_gene': 'TARBP2', 'score': 10.45}, {'connected_gene': 'ENSG00000258344', 'score': 10.32}, {'connected_gene': 'SOAT2', 'score': 10.32}, {'connected_gene': 'AMHR2', 'score': 9.6}, {'connected_gene': 'IGFBP6', 'score': 9.42}]
chr12 GH12I053060 53060155 53073702 1.43 [{'connected_gene': 'PCBP2', 'score': 39.33}, {'connected_gene': 'AAAS', 'score': 39.25}, {'connected_gene': 'ZNF740', 'score': 39.14}, {'connected_gene': 'ATF7', 'score': 35.81}, {'connected_gene': 'SP1', 'score': 34.25}, {'connected_gene': 'PFDN5', 'score': 33.81}, {'connected_gene': 'EIF4B', 'score': 25.52}, {'connected_gene': 'LOC100652999', 'score': 22.7}, {'connected_gene': 'CALCOCO1', 'score': 20.51}, {'connected_gene': 'LOC283335', 'score': 14.48}, {'connected_gene': 'IGFBP6', 'score': 12.19}, {'connected_gene': 'SOAT2', 'score': 12.17}, {'connected_gene': 'CSAD', 'score': 12.12}, {'connected_gene': 'ITGB7', 'score': 10.87}, {'connected_gene': 'RNU6-333P', 'score': 10.82}, {'connected_gene': 'ESPL1', 'score': 10.26}, {'connected_gene': 'C12orf10', 'score': 10.03}, {'connected_gene': 'MFSD5', 'score': 9.91}, {'connected_gene': 'ENSG00000257808', 'score': 9.89}, {'connected_gene': 'TNS2', 'score': 8.81}, {'connected_gene': 'SPRYD3', 'score': 5.46}, {'connected_gene': 'PRR13', 'score': 4.55}, {'connected_gene': 'MIR6757', 'score': 0.44}]
chr12 GH12I052345 52345317 52348569 0.56 [{'connected_gene': 'KRT86', 'score': 9.57}, {'connected_gene': 'ENSG00000257829', 'score': 8.59}, {'connected_gene': 'ESPL1', 'score': 4.32}, {'connected_gene': 'KRT89P', 'score': 0.44}, {'connected_gene': 'KRT85', 'score': 0.34}, {'connected_gene': 'GC12M052334', 'score': 0.14}]
chr12 GH12I053348 53348398 53349546 0.43 [{'connected_gene': 'SP1', 'score': 32.39}, {'connected_gene': 'ESPL1', 'score': 19.75}, {'connected_gene': 'SP7', 'score': 17.37}, {'connected_gene': 'ATP5MC2', 'score': 6.95}]
chr12 GH12I053386 53386001 53392339 1.27 [{'connected_gene': 'SP1', 'score': 28.22}, {'connected_gene': 'AAAS', 'score': 15.83}, {'connected_gene': 'SMUG1', 'score': 14.56}, {'connected_gene': 'PRR13', 'score': 14.06}, {'connected_gene': 'ATP5MC2', 'score': 6.29}, {'connected_gene': 'ESPL1', 'score': 5.02}, {'connected_gene': 'PIR43704', 'score': 0.44}, {'connected_gene': 'GC12M053411', 'score': 0.37}]
chr12 GH12I053344 53344388 53346622 1.69 [{'connected_gene': 'SP7', 'score': 567.47}, {'connected_gene': 'SP1', 'score': 34.68}, {'connected_gene': 'ZNF740', 'score': 23.08}, {'connected_gene': 'ESPL1', 'score': 19.84}, {'connected_gene': 'HNRNPA1', 'score': 19.65}, {'connected_gene': 'PCBP2', 'score': 19.4}, {'connected_gene': 'ENSG00000258344', 'score': 19.15}, {'connected_gene': 'ATF7', 'score': 15.22}, {'connected_gene': 'EIF4B', 'score': 13.23}, {'connected_gene': 'AAAS', 'score': 12.78}, {'connected_gene': 'CALCOCO1', 'score': 12.09}, {'connected_gene': 'RARG', 'score': 12.07}, {'connected_gene': 'IGFBP6', 'score': 11.31}, {'connected_gene': 'ENSG00000257808', 'score': 11.02}, {'connected_gene': 'C12orf10', 'score': 10.66}, {'connected_gene': 'PFDN5', 'score': 10.37}, {'connected_gene': 'LOC100652999', 'score': 9.87}, {'connected_gene': 'ATP5MC2', 'score': 6.58}]
chr12 GH12I053753 53753691 53754866 0.92 [{'connected_gene': 'LOC105378250', 'score': 550.77}, {'connected_gene': 'ATP5MC2', 'score': 4.85}, {'connected_gene': 'HOXC4', 'score': 2.95}, {'connected_gene': 'ESPL1', 'score': 1.54}, {'connected_gene': 'CISTR', 'score': 0.77}, {'connected_gene': 'CALCOCO1', 'score': 0.31}]
chr12 GH12I053420 53420147 53422286 1.17 [{'connected_gene': 'GC12P053422', 'score': 550.77}, {'connected_gene': 'SP1', 'score': 25.22}, {'connected_gene': 'SP7', 'score': 12.37}, {'connected_gene': 'AAAS', 'score': 11.86}, {'connected_gene': 'PFDN5', 'score': 10.85}, {'connected_gene': 'C12orf10', 'score': 10.85}, {'connected_gene': 'MAP3K12', 'score': 10.67}, {'connected_gene': 'TARBP2', 'score': 10.67}, {'connected_gene': 'NPFF', 'score': 10.66}, {'connected_gene': 'ESPL1', 'score': 8.59}, {'connected_gene': 'GC12M053411', 'score': 0.39}]

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