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
ENST00000368195 [[156809854, 156810896], [156811185, 156811320], [156811456, 156811586], [156811903, 156812063], [156812189, 156812300], [156812795, 156813025], [156813218, 156813271], [156813966, 156814072], [156814253, 156814416], [156814498, 156814635], [156814867, 156815088], [156815163, 156815205], [156815410, 156815606], [156815743, 156815911], [156816310, 156816549], [156818712, 156818839], [156819037, 156819252], [156821081, 156821226], [156821437, 156821580], [156821679, 156821983], [156823543, 156824095], [156828328, 156828810]] [[156810664, 156810896], [156811185, 156811320], [156811456, 156811586], [156811903, 156812063], [156812189, 156812300], [156812795, 156813025], [156813218, 156813271], [156813966, 156814072], [156814253, 156814416], [156814498, 156814635], [156814867, 156815088], [156815163, 156815205], [156815410, 156815606], [156815743, 156815911], [156816310, 156816549], [156818712, 156818839], [156819037, 156819252], [156821081, 156821226], [156821437, 156821580], [156821679, 156821983], [156823543, 156824095], [156828328, 156828413]]
NM_014215 [[156810664, 156810896], [156811185, 156811320], [156811456, 156811586], [156811903, 156812063], [156812189, 156812300], [156812795, 156813025], [156813218, 156813271], [156813966, 156814072], [156814253, 156814416], [156814498, 156814635], [156814867, 156815088], [156815163, 156815205], [156815410, 156815606], [156815743, 156815911], [156816310, 156816549], [156818712, 156818839], [156819037, 156819252], [156821081, 156821226], [156821437, 156821580], [156821679, 156821983], [156823543, 156824095], [156828328, 156828712]] [[156810664, 156810896], [156811185, 156811320], [156811456, 156811586], [156811903, 156812063], [156812189, 156812300], [156812795, 156813025], [156813218, 156813271], [156813966, 156814072], [156814253, 156814416], [156814498, 156814635], [156814867, 156815088], [156815163, 156815205], [156815410, 156815606], [156815743, 156815911], [156816310, 156816549], [156818712, 156818839], [156819037, 156819252], [156821081, 156821226], [156821437, 156821580], [156821679, 156821983], [156823543, 156824095], [156828328, 156828413]]
Promoter
Chrom Start End Description
chr1 156828460 156828465 CAGE_peak_5_at_INSRR_5end
chr1 156828879 156828914 CAGE_peak_1_at_INSRR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I156862 156862701 156863707 0.95 [{'connected_gene': 'PAQR6', 'score': 16.37}, {'connected_gene': 'C1orf61', 'score': 9.85}, {'connected_gene': 'GC01M156849', 'score': 0.77}, {'connected_gene': 'INSRR', 'score': 0.77}, {'connected_gene': 'NTRK1', 'score': 0.25}]
chr1 GH01I156770 156770618 156771672 0.31 [{'connected_gene': 'MRPL24', 'score': 19.7}, {'connected_gene': 'RRNAD1', 'score': 11.43}, {'connected_gene': 'ISG20L2', 'score': 11.43}, {'connected_gene': 'NTRK1', 'score': 10.42}, {'connected_gene': 'PEAR1', 'score': 10.38}, {'connected_gene': 'LRRC71', 'score': 10.36}, {'connected_gene': 'INSRR', 'score': 10.33}, {'connected_gene': 'ENSG00000223356', 'score': 9.74}, {'connected_gene': 'HDGF', 'score': 0.77}, {'connected_gene': 'PRCC', 'score': 0.34}, {'connected_gene': 'GC01P156814', 'score': 0.26}]
chr1 GH01I156804 156804401 156805000 1.12 [{'connected_gene': 'MRPL24', 'score': 14.76}, {'connected_gene': 'INSRR', 'score': 12.18}, {'connected_gene': 'PEAR1', 'score': 11.57}, {'connected_gene': 'LRRC71', 'score': 11.53}, {'connected_gene': 'RRNAD1', 'score': 10.93}, {'connected_gene': 'ISG20L2', 'score': 10.93}, {'connected_gene': 'HDGF', 'score': 10.91}, {'connected_gene': 'MIR765', 'score': 10.44}, {'connected_gene': 'ARHGEF11', 'score': 10.39}, {'connected_gene': 'C1orf61', 'score': 1.34}, {'connected_gene': 'GC01P156814', 'score': 0.39}]
chr1 GH01I156801 156801199 156802007 0.79 [{'connected_gene': 'MRPL24', 'score': 16.19}, {'connected_gene': 'INSRR', 'score': 12.17}, {'connected_gene': 'PEAR1', 'score': 11.57}, {'connected_gene': 'LRRC71', 'score': 11.53}, {'connected_gene': 'HDGF', 'score': 11.25}, {'connected_gene': 'PRCC', 'score': 11.18}, {'connected_gene': 'RRNAD1', 'score': 10.94}, {'connected_gene': 'ISG20L2', 'score': 10.94}, {'connected_gene': 'ENSG00000223356', 'score': 10.57}, {'connected_gene': 'MIR765', 'score': 10.44}, {'connected_gene': 'ARHGEF11', 'score': 10.39}, {'connected_gene': 'GC01P156814', 'score': 0.39}]
chr1 GH01I156797 156797409 156797558 0.73 [{'connected_gene': 'MRPL24', 'score': 15.85}, {'connected_gene': 'INSRR', 'score': 11.75}, {'connected_gene': 'PEAR1', 'score': 11.2}, {'connected_gene': 'LRRC71', 'score': 11.17}, {'connected_gene': 'HDGF', 'score': 10.93}, {'connected_gene': 'PRCC', 'score': 10.88}, {'connected_gene': 'ENSG00000223356', 'score': 10.64}, {'connected_gene': 'RRNAD1', 'score': 10.51}, {'connected_gene': 'ISG20L2', 'score': 10.51}, {'connected_gene': 'GC01P156814', 'score': 0.37}]
chr1 GH01I156836 156836129 156836337 0.94 [{'connected_gene': 'NTRK1', 'score': 12.3}, {'connected_gene': 'INSRR', 'score': 12.3}, {'connected_gene': 'PEAR1', 'score': 11.52}, {'connected_gene': 'LRRC71', 'score': 11.47}, {'connected_gene': 'SH2D2A', 'score': 6.7}, {'connected_gene': 'TSACC', 'score': 1.32}, {'connected_gene': 'GC01M156858', 'score': 0.34}]
chr1 GH01I156852 156852529 156852578 0.62 [{'connected_gene': 'PEAR1', 'score': 11.42}, {'connected_gene': 'LRRC71', 'score': 10.9}, {'connected_gene': 'ENSG00000223356', 'score': 10.4}, {'connected_gene': 'HDGF', 'score': 10.27}, {'connected_gene': 'MRPL24', 'score': 10.23}, {'connected_gene': 'MIR765', 'score': 10.03}, {'connected_gene': 'ARHGEF11', 'score': 9.93}, {'connected_gene': 'PRCC', 'score': 9.82}, {'connected_gene': 'C1orf61', 'score': 8.59}, {'connected_gene': 'MIR9-1', 'score': 8.59}, {'connected_gene': 'GC01M156858', 'score': 0.44}, {'connected_gene': 'INSRR', 'score': 0.44}, {'connected_gene': 'GC01M156849', 'score': 0.39}, {'connected_gene': 'SH2D2A', 'score': 0.28}, {'connected_gene': 'NTRK1', 'score': 0.28}]
chr1 GH01I156853 156852429 156852517 0.56 [{'connected_gene': 'PEAR1', 'score': 11.42}, {'connected_gene': 'LRRC71', 'score': 10.9}, {'connected_gene': 'ENSG00000223356', 'score': 10.4}, {'connected_gene': 'HDGF', 'score': 10.27}, {'connected_gene': 'MRPL24', 'score': 10.23}, {'connected_gene': 'MIR765', 'score': 10.03}, {'connected_gene': 'ARHGEF11', 'score': 9.93}, {'connected_gene': 'PRCC', 'score': 9.82}, {'connected_gene': 'C1orf61', 'score': 8.59}, {'connected_gene': 'MIR9-1', 'score': 8.59}, {'connected_gene': 'GC01M156858', 'score': 0.44}, {'connected_gene': 'INSRR', 'score': 0.44}, {'connected_gene': 'GC01M156849', 'score': 0.39}, {'connected_gene': 'SH2D2A', 'score': 0.28}, {'connected_gene': 'NTRK1', 'score': 0.28}]
chr1 GH01I156848 156848388 156849583 0.49 [{'connected_gene': 'PEAR1', 'score': 11.42}, {'connected_gene': 'LRRC71', 'score': 10.89}, {'connected_gene': 'ENSG00000223356', 'score': 10.4}, {'connected_gene': 'HDGF', 'score': 10.28}, {'connected_gene': 'MRPL24', 'score': 10.24}, {'connected_gene': 'MIR765', 'score': 10.02}, {'connected_gene': 'ARHGEF11', 'score': 9.93}, {'connected_gene': 'PRCC', 'score': 9.83}, {'connected_gene': 'C1orf61', 'score': 8.6}, {'connected_gene': 'MIR9-1', 'score': 8.59}, {'connected_gene': 'GC01M156858', 'score': 0.44}, {'connected_gene': 'INSRR', 'score': 0.39}, {'connected_gene': 'SH2D2A', 'score': 0.29}, {'connected_gene': 'NTRK1', 'score': 0.29}]
chr1 GH01I156805 156805848 156806888 1.04 [{'connected_gene': 'INSRR', 'score': 12.18}, {'connected_gene': 'PEAR1', 'score': 11.57}, {'connected_gene': 'LRRC71', 'score': 11.54}, {'connected_gene': 'RRNAD1', 'score': 10.93}, {'connected_gene': 'ISG20L2', 'score': 10.93}, {'connected_gene': 'HDGF', 'score': 10.91}, {'connected_gene': 'MRPL24', 'score': 10.52}, {'connected_gene': 'MIR765', 'score': 10.45}, {'connected_gene': 'ARHGEF11', 'score': 10.39}, {'connected_gene': 'GC01P156814', 'score': 0.44}, {'connected_gene': 'SH2D2A', 'score': 0.39}]
chr1 GH01I156807 156807378 156808997 0.63 [{'connected_gene': 'HDGF', 'score': 22.53}, {'connected_gene': 'MRPL24', 'score': 15.42}, {'connected_gene': 'INSRR', 'score': 12.18}, {'connected_gene': 'PEAR1', 'score': 11.57}, {'connected_gene': 'LRRC71', 'score': 11.54}, {'connected_gene': 'RRNAD1', 'score': 10.93}, {'connected_gene': 'ISG20L2', 'score': 10.93}, {'connected_gene': 'MIR765', 'score': 10.45}, {'connected_gene': 'ARHGEF11', 'score': 10.39}, {'connected_gene': 'SH2D2A', 'score': 0.44}, {'connected_gene': 'GC01P156814', 'score': 0.44}]
chr1 GH01I156765 156765691 156770200 2.51 [{'connected_gene': 'HDGF', 'score': 561.75}, {'connected_gene': 'PRCC', 'score': 561.61}, {'connected_gene': 'RRNAD1', 'score': 51.2}, {'connected_gene': 'GON4L', 'score': 47.06}, {'connected_gene': 'KHDC4', 'score': 37.31}, {'connected_gene': 'LOC246784', 'score': 30.32}, {'connected_gene': 'ISG20L2', 'score': 25.74}, {'connected_gene': 'CCT3', 'score': 21.43}, {'connected_gene': 'MRPL24', 'score': 18.96}, {'connected_gene': 'LRRC71', 'score': 14.85}, {'connected_gene': 'SSR2', 'score': 11.34}, {'connected_gene': 'NTRK1', 'score': 10.89}, {'connected_gene': 'INSRR', 'score': 10.8}, {'connected_gene': 'PEAR1', 'score': 10.38}, {'connected_gene': 'ENSG00000223356', 'score': 10.22}, {'connected_gene': 'GLMP', 'score': 10.19}, {'connected_gene': 'RIT1', 'score': 10.17}, {'connected_gene': 'ETV3', 'score': 9.78}, {'connected_gene': 'MEX3A', 'score': 5.31}, {'connected_gene': 'GC01P156814', 'score': 0.25}]
chr1 GH01I156890 156890209 156890358 0.91 [{'connected_gene': 'KHDC4', 'score': 45.15}, {'connected_gene': 'RRNAD1', 'score': 27.65}, {'connected_gene': 'ISG20L2', 'score': 14.39}, {'connected_gene': 'LRRC71', 'score': 12.18}, {'connected_gene': 'INSRR', 'score': 11.84}, {'connected_gene': 'NTRK1', 'score': 11.74}, {'connected_gene': 'PRCC', 'score': 11.36}, {'connected_gene': 'MIR765', 'score': 11.34}, {'connected_gene': 'CCT3', 'score': 11.33}, {'connected_gene': 'LOC246784', 'score': 11.21}, {'connected_gene': 'ARHGEF11', 'score': 11.2}, {'connected_gene': 'ENSG00000223356', 'score': 10.49}, {'connected_gene': 'ETV3', 'score': 9.79}, {'connected_gene': 'PEAR1', 'score': 0.77}, {'connected_gene': 'GC01M156849', 'score': 0.34}]
chr1 GH01I156858 156858866 156861485 1.63 [{'connected_gene': 'GC01M156858', 'score': 550.77}, {'connected_gene': 'INSRR', 'score': 550.77}, {'connected_gene': 'NTRK1', 'score': 550.26}, {'connected_gene': 'GC01M156849', 'score': 0.44}]