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
ENST00000371142 [[98277865, 98282087], [98286969, 98287046], [98287169, 98287253], [98287787, 98287934], [98290296, 98290365], [98292807, 98292947], [98303832, 98303963], [98307651, 98307746], [98311001, 98311168], [98312684, 98312816], [98319415, 98319493], [98321734, 98321895], [98325060, 98325183], [98336390, 98336586], [98346490, 98346809]] [[98282019, 98282087], [98286969, 98287046], [98287169, 98287253], [98287787, 98287934], [98290296, 98290365], [98292807, 98292947], [98303832, 98303963], [98307651, 98307746], [98311001, 98311168], [98312684, 98312816], [98319415, 98319493], [98321734, 98321895], [98325060, 98325183], [98336390, 98336586], [98346490, 98346592]]
ENST00000490192 [[98303357, 98303963], [98307651, 98307746], [98311001, 98311168], [98312684, 98312700]] None
ENST00000485093 [[98282033, 98282087], [98286969, 98287046], [98287169, 98287302], [98287787, 98287930]] None
ENST00000443638 [[98311067, 98311168], [98312684, 98312816], [98319415, 98319493], [98321734, 98321895], [98325060, 98325183], [98336390, 98336586], [98347132, 98347209]] [[98311067, 98311168], [98312684, 98312816], [98319415, 98319493], [98321734, 98321895], [98325060, 98325183], [98336390, 98336556]]
ENST00000464654 [[98312780, 98312816], [98319415, 98319493], [98321734, 98321895], [98325060, 98325183], [98336390, 98336586], [98337235, 98337299]] None
ENST00000475401 [[98336101, 98336586], [98346490, 98346516]] None
NM_020123 [[98277866, 98282087], [98286969, 98287046], [98287169, 98287253], [98287787, 98287934], [98290296, 98290365], [98292807, 98292947], [98303832, 98303963], [98307651, 98307746], [98311001, 98311168], [98312684, 98312816], [98319415, 98319493], [98321734, 98321895], [98325060, 98325183], [98336390, 98336586], [98346490, 98346809]] [[98282019, 98282087], [98286969, 98287046], [98287169, 98287253], [98287787, 98287934], [98290296, 98290365], [98292807, 98292947], [98303832, 98303963], [98307651, 98307746], [98311001, 98311168], [98312684, 98312816], [98319415, 98319493], [98321734, 98321895], [98325060, 98325183], [98336390, 98336586], [98346490, 98346592]]
Promoter
Chrom Start End Description
chr10 98336837 98336873 CAGE_peak_24_at_TM9SF3_5end
chr10 98346700 98346713 CAGE_peak_3_at_TM9SF3_5end
chr10 98346732 98346783 CAGE_peak_1_at_TM9SF3_5end
chr10 98346801 98346812 CAGE_peak_2_at_TM9SF3_5end
chr10 98347063 98347094 CAGE_peak_4_at_TM9SF3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I096128 96128791 96132122 2.1 [{'connected_gene': 'ZNF518A', 'score': 582.93}, {'connected_gene': 'GC10M096129', 'score': 550.77}, {'connected_gene': 'CCNJ', 'score': 30.76}, {'connected_gene': 'LCOR', 'score': 19.16}, {'connected_gene': 'NPM1P26', 'score': 14.71}, {'connected_gene': 'TCTN3', 'score': 13.78}, {'connected_gene': 'RPL13AP5', 'score': 11.09}, {'connected_gene': 'TM9SF3', 'score': 10.22}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.69}, {'connected_gene': 'GC10M096095', 'score': 0.06}]
chr10 GH10I096579 96579668 96582325 1.38 [{'connected_gene': 'ZNF518A', 'score': 82.98}, {'connected_gene': 'TCTN3', 'score': 59.36}, {'connected_gene': 'MMS19', 'score': 55.51}, {'connected_gene': 'CCNJ', 'score': 46.66}, {'connected_gene': 'LCOR', 'score': 31.1}, {'connected_gene': 'EXOSC1', 'score': 28.84}, {'connected_gene': 'NPM1P26', 'score': 26.77}, {'connected_gene': 'TM9SF3', 'score': 12.22}, {'connected_gene': 'MIR607', 'score': 10.61}, {'connected_gene': 'ALDH18A1', 'score': 10.08}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.82}, {'connected_gene': 'LOC105378443', 'score': 0.44}]
chr10 GH10I096711 96711406 96711555 0.46 [{'connected_gene': 'LCOR', 'score': 16.9}, {'connected_gene': 'PIK3AP1', 'score': 10.98}, {'connected_gene': 'MIR607', 'score': 10.89}, {'connected_gene': 'TM9SF3', 'score': 1.6}, {'connected_gene': 'GC10M096631', 'score': 0.2}]
chr10 GH10I096708 96708068 96710614 1.25 [{'connected_gene': 'LCOR', 'score': 18.33}, {'connected_gene': 'PIK3AP1', 'score': 17.09}, {'connected_gene': 'RNU6-1274P', 'score': 12.63}, {'connected_gene': 'MIR607', 'score': 11.32}, {'connected_gene': 'TM9SF3', 'score': 2.04}, {'connected_gene': 'GC10M096631', 'score': 0.2}]
chr10 GH10I096088 96088767 96090927 1.61 [{'connected_gene': 'ENTPD1-AS1', 'score': 557.91}, {'connected_gene': 'TCTN3', 'score': 32.45}, {'connected_gene': 'ZNF518A', 'score': 26.05}, {'connected_gene': 'RPL13AP5', 'score': 19.04}, {'connected_gene': 'NPM1P26', 'score': 14.71}, {'connected_gene': 'CCNJ', 'score': 12.9}, {'connected_gene': 'RNU6-271P', 'score': 12.15}, {'connected_gene': 'LCOR', 'score': 10.33}, {'connected_gene': 'TM9SF3', 'score': 10.21}, {'connected_gene': 'CC2D2B', 'score': 9.86}, {'connected_gene': 'GC10P096086', 'score': 0.77}]
chr10 GH10I096596 96596178 96597130 1.04 [{'connected_gene': 'MIR607', 'score': 10.38}, {'connected_gene': 'LCOR', 'score': 10.38}, {'connected_gene': 'PGAM1', 'score': 4.39}, {'connected_gene': 'TM9SF3', 'score': 0.44}, {'connected_gene': 'LOC105378443', 'score': 0.44}, {'connected_gene': 'PIR47263', 'score': 0.39}, {'connected_gene': 'PIK3AP1', 'score': 0.13}]
chr10 GH10I096584 96584433 96584886 0.38 [{'connected_gene': 'MIR607', 'score': 10.61}, {'connected_gene': 'LCOR', 'score': 10.61}, {'connected_gene': 'NPM1P26', 'score': 9.83}, {'connected_gene': 'TM9SF3', 'score': 0.77}, {'connected_gene': 'LOC105378443', 'score': 0.77}]
chr10 GH10I097336 97336150 97338666 0.96 [{'connected_gene': 'SLIT1', 'score': 15.66}, {'connected_gene': 'R3HCC1L', 'score': 14.76}, {'connected_gene': 'NPM1P26', 'score': 14.69}, {'connected_gene': 'EXOSC1', 'score': 13.31}, {'connected_gene': 'RPL13AP5', 'score': 11.1}, {'connected_gene': 'LOXL4', 'score': 10.94}, {'connected_gene': 'MARVELD1', 'score': 10.65}, {'connected_gene': 'LCOR', 'score': 10.33}, {'connected_gene': 'TM9SF3', 'score': 10.2}, {'connected_gene': 'PGAM1', 'score': 7.63}, {'connected_gene': 'LOC105378448', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.77}, {'connected_gene': 'RPL34P20', 'score': 0.22}]
chr10 GH10I097037 97037201 97038400 1.11 [{'connected_gene': 'TM9SF3', 'score': 23.07}, {'connected_gene': 'EXOSC1', 'score': 20.32}, {'connected_gene': 'ZNF518A', 'score': 16.22}, {'connected_gene': 'MARVELD1', 'score': 13.19}, {'connected_gene': 'RPL13AP5', 'score': 12.65}, {'connected_gene': 'CCNJ', 'score': 9.66}, {'connected_gene': 'GC10M097006', 'score': 0.29}, {'connected_gene': 'PIR52854', 'score': 0.29}, {'connected_gene': 'SLIT1', 'score': 0.11}]
chr10 GH10I096585 96585000 96589328 2.21 [{'connected_gene': 'TM9SF3', 'score': 550.77}, {'connected_gene': 'LOC105378443', 'score': 550.77}, {'connected_gene': 'NPM1P26', 'score': 27.09}, {'connected_gene': 'MIR607', 'score': 10.61}, {'connected_gene': 'LCOR', 'score': 10.61}]
chr10 GH10I096577 96577049 96579233 0.83 [{'connected_gene': 'TM9SF3', 'score': 0.44}, {'connected_gene': 'LOC105378443', 'score': 0.44}, {'connected_gene': 'NPM1P26', 'score': 0.37}]
chr10 GH10I097191 97191770 97192511 0.31 [{'connected_gene': 'EXOSC1', 'score': 12.8}, {'connected_gene': 'SLIT1-AS1', 'score': 10.67}, {'connected_gene': 'TM9SF3', 'score': 9.99}, {'connected_gene': 'ARHGAP19', 'score': 8.96}, {'connected_gene': 'PIR51669', 'score': 0.77}, {'connected_gene': 'SLIT1', 'score': 0.44}, {'connected_gene': 'ARHGAP19-SLIT1', 'score': 0.15}]
chr10 GH10I097424 97424792 97429152 2.21 [{'connected_gene': 'PGAM1', 'score': 560.74}, {'connected_gene': 'RRP12', 'score': 550.77}, {'connected_gene': 'GC10M097416', 'score': 550.77}, {'connected_gene': 'LOC644215', 'score': 550.77}, {'connected_gene': 'TM9SF3', 'score': 13.91}, {'connected_gene': 'MARVELD1', 'score': 13.22}, {'connected_gene': 'RPL13AP5', 'score': 12.62}, {'connected_gene': 'EXOSC1', 'score': 11.11}, {'connected_gene': 'LOXL4', 'score': 10.74}, {'connected_gene': 'GC10P097430', 'score': 0.77}]
chr10 GH10I096644 96644705 96649247 1.35 [{'connected_gene': 'PIK3AP1', 'score': 35.33}, {'connected_gene': 'LCOR', 'score': 15.4}, {'connected_gene': 'MIR607', 'score': 10.71}, {'connected_gene': 'TM9SF3', 'score': 2.24}, {'connected_gene': 'GC10M096631', 'score': 0.44}]
chr10 GH10I096548 96548795 96549070 0.47 [{'connected_gene': 'PIK3AP1', 'score': 13.53}, {'connected_gene': 'LCOR', 'score': 4.93}, {'connected_gene': 'TM9SF3', 'score': 1.67}, {'connected_gene': 'ZNF518A', 'score': 1.31}, {'connected_gene': 'NPM1P26', 'score': 0.39}, {'connected_gene': 'TLL2', 'score': 0.28}]
chr10 GH10I096694 96694519 96699050 1.39 [{'connected_gene': 'PIK3AP1', 'score': 32.52}, {'connected_gene': 'LCOR', 'score': 3.85}, {'connected_gene': 'TM9SF3', 'score': 2.05}, {'connected_gene': 'GC10M096631', 'score': 0.22}]
chr10 GH10I096705 96705028 96705600 1.2 [{'connected_gene': 'PIK3AP1', 'score': 20.99}, {'connected_gene': 'LCOR', 'score': 4.79}, {'connected_gene': 'TM9SF3', 'score': 1.88}, {'connected_gene': 'GC10M096631', 'score': 0.21}]
chr10 GH10I096716 96716341 96721769 2.49 [{'connected_gene': 'PIK3AP1', 'score': 587.62}, {'connected_gene': 'LCOR', 'score': 4.53}, {'connected_gene': 'TM9SF3', 'score': 1.99}, {'connected_gene': 'GC10M096631', 'score': 0.18}]
chr10 GH10I096654 96654723 96658600 1.37 [{'connected_gene': 'PIK3AP1', 'score': 25.07}, {'connected_gene': 'LCOR', 'score': 16.78}, {'connected_gene': 'RNU6-1274P', 'score': 12.04}, {'connected_gene': 'MIR607', 'score': 10.24}, {'connected_gene': 'TM9SF3', 'score': 2.22}, {'connected_gene': 'GC10M096631', 'score': 0.37}]
chr10 GH10I096670 96670121 96678173 1.75 [{'connected_gene': 'PIK3AP1', 'score': 37.15}, {'connected_gene': 'NPM1P26', 'score': 14.58}, {'connected_gene': 'TCTN3', 'score': 12.52}, {'connected_gene': 'TM9SF3', 'score': 11.7}, {'connected_gene': 'RPL13AP5', 'score': 10.83}, {'connected_gene': 'CCNJ', 'score': 10.8}, {'connected_gene': 'EXOSC1', 'score': 10.17}, {'connected_gene': 'LCOR', 'score': 4.74}, {'connected_gene': 'GC10M096631', 'score': 0.29}]
chr10 GH10I097331 97331217 97336082 2.27 [{'connected_gene': 'LOC105378448', 'score': 550.77}, {'connected_gene': 'FRAT2', 'score': 550.77}, {'connected_gene': 'EXOSC1', 'score': 28.46}, {'connected_gene': 'RPL13AP5', 'score': 23.93}, {'connected_gene': 'NPM1P26', 'score': 23.33}, {'connected_gene': 'R3HCC1L', 'score': 20.94}, {'connected_gene': 'LOXL4', 'score': 20.23}, {'connected_gene': 'ENSG00000230928', 'score': 19.77}, {'connected_gene': 'TM9SF3', 'score': 19.33}, {'connected_gene': 'SLIT1', 'score': 16.59}, {'connected_gene': 'MARVELD1', 'score': 14.97}, {'connected_gene': 'ARHGAP19', 'score': 13.55}, {'connected_gene': 'LCOR', 'score': 10.67}, {'connected_gene': 'ZFYVE27', 'score': 9.75}, {'connected_gene': 'FRAT1', 'score': 0.39}]
chr10 GH10I097187 97187401 97189515 0.43 [{'connected_gene': 'SLIT1-AS1', 'score': 10.67}, {'connected_gene': 'ARHGAP19', 'score': 8.96}, {'connected_gene': 'TM9SF3', 'score': 4.72}, {'connected_gene': 'SLIT1', 'score': 0.77}, {'connected_gene': 'PIR51669', 'score': 0.44}, {'connected_gene': 'ARHGAP19-SLIT1', 'score': 0.15}]
chr10 GH10I096600 96600266 96600829 0.2 [{'connected_gene': 'NPM1P26', 'score': 18.28}, {'connected_gene': 'MIR607', 'score': 10.39}, {'connected_gene': 'LCOR', 'score': 10.38}, {'connected_gene': 'PIR47263', 'score': 0.44}, {'connected_gene': 'TM9SF3', 'score': 0.39}, {'connected_gene': 'LOC105378443', 'score': 0.39}, {'connected_gene': 'PIK3AP1', 'score': 0.13}]
chr10 GH10I096598 96598630 96599491 0.51 [{'connected_gene': 'NPM1P26', 'score': 23.73}, {'connected_gene': 'MIR607', 'score': 10.39}, {'connected_gene': 'LCOR', 'score': 10.38}, {'connected_gene': 'TM9SF3', 'score': 0.39}, {'connected_gene': 'PIR47263', 'score': 0.39}, {'connected_gene': 'LOC105378443', 'score': 0.39}, {'connected_gene': 'PIK3AP1', 'score': 0.13}]
chr10 GH10I096568 96568735 96569279 0.31 [{'connected_gene': 'NPM1P26', 'score': 9.89}, {'connected_gene': 'TM9SF3', 'score': 0.37}, {'connected_gene': 'LOC105378443', 'score': 0.37}]
chr10 GH10I096571 96571099 96572053 0.38 [{'connected_gene': 'NPM1P26', 'score': 9.89}, {'connected_gene': 'TM9SF3', 'score': 0.37}, {'connected_gene': 'LOC105378443', 'score': 0.37}]
chr10 GH10I097318 97318158 97322198 2.26 [{'connected_gene': 'FRAT1', 'score': 550.77}, {'connected_gene': 'RPL13AP5', 'score': 15.06}, {'connected_gene': 'ARHGAP19', 'score': 13.82}, {'connected_gene': 'NPM1P26', 'score': 13.46}, {'connected_gene': 'MORN4', 'score': 13.02}, {'connected_gene': 'SLIT1', 'score': 12.68}, {'connected_gene': 'EXOSC1', 'score': 11.57}, {'connected_gene': 'ENSG00000230928', 'score': 10.92}, {'connected_gene': 'LCOR', 'score': 10.68}, {'connected_gene': 'LOXL4', 'score': 10.04}, {'connected_gene': 'R3HCC1L', 'score': 9.98}, {'connected_gene': 'TM9SF3', 'score': 9.95}, {'connected_gene': 'LOC105378448', 'score': 0.39}]
chr10 GH10I097421 97421964 97424752 1.08 [{'connected_gene': 'PIR45391', 'score': 550.77}, {'connected_gene': 'GC10M097425', 'score': 550.77}, {'connected_gene': 'MMS19', 'score': 86.49}, {'connected_gene': 'LCOR', 'score': 60.04}, {'connected_gene': 'EXOSC1', 'score': 59.38}, {'connected_gene': 'R3HCC1L', 'score': 45.44}, {'connected_gene': 'NPM1P26', 'score': 31.97}, {'connected_gene': 'TM9SF3', 'score': 23.05}, {'connected_gene': 'RPL13AP5', 'score': 21.76}, {'connected_gene': 'MARVELD1', 'score': 21.58}, {'connected_gene': 'LOXL4', 'score': 20.47}, {'connected_gene': 'ZDHHC16', 'score': 18.47}, {'connected_gene': 'MORN4', 'score': 14.48}, {'connected_gene': 'PYROXD2', 'score': 10.11}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'SLIT1', 'score': 7.76}, {'connected_gene': 'RRP12', 'score': 0.77}, {'connected_gene': 'GC10M097416', 'score': 0.77}, {'connected_gene': 'LOC644215', 'score': 0.77}]
chr10 GH10I096642 96641225 96641580 1.02 [{'connected_gene': 'GC10M096631', 'score': 550.77}, {'connected_gene': 'TCTN3', 'score': 25.27}, {'connected_gene': 'ZNF518A', 'score': 24.18}, {'connected_gene': 'CCNJ', 'score': 22.68}, {'connected_gene': 'LCOR', 'score': 22.05}, {'connected_gene': 'EXOSC1', 'score': 20.77}, {'connected_gene': 'NPM1P26', 'score': 19.64}, {'connected_gene': 'PIK3AP1', 'score': 12.82}, {'connected_gene': 'MIR607', 'score': 11.94}, {'connected_gene': 'MMS19', 'score': 11.36}, {'connected_gene': 'TM9SF3', 'score': 11.31}, {'connected_gene': 'RPL13AP5', 'score': 10.79}, {'connected_gene': 'ZDHHC16', 'score': 9.8}, {'connected_gene': 'RPS2P36', 'score': 0.37}]
chr10 GH10I096640 96640944 96641173 1.05 [{'connected_gene': 'GC10M096631', 'score': 550.77}, {'connected_gene': 'TCTN3', 'score': 25.27}, {'connected_gene': 'ZNF518A', 'score': 24.18}, {'connected_gene': 'CCNJ', 'score': 22.68}, {'connected_gene': 'EXOSC1', 'score': 20.77}, {'connected_gene': 'NPM1P26', 'score': 11.81}, {'connected_gene': 'MMS19', 'score': 11.36}, {'connected_gene': 'TM9SF3', 'score': 11.31}, {'connected_gene': 'RPL13AP5', 'score': 10.79}, {'connected_gene': 'LCOR', 'score': 10.2}, {'connected_gene': 'ZDHHC16', 'score': 9.8}, {'connected_gene': 'RPS2P36', 'score': 0.37}, {'connected_gene': 'PIK3AP1', 'score': 0.18}]

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