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
ENST00000583121 [[27717481, 27717606], [27717973, 27718042], [27778472, 27778698], [27794162, 27794234], [27802687, 27802721]] [[27778566, 27778698], [27794162, 27794234], [27802687, 27802721]]
ENST00000261716 [[27717617, 27718042], [27778472, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27844470, 27844674], [27849297, 27849537], [27857424, 27857637], [27861135, 27861318], [27869578, 27878922]] [[27778566, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27844470, 27844674], [27849297, 27849537], [27857424, 27857637], [27861135, 27861318], [27869578, 27870040]]
ENST00000536202 [[27717948, 27718042], [27778472, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27857424, 27857637], [27861135, 27861318], [27869578, 27871358]] [[27778566, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27857424, 27857637], [27861135, 27861318], [27869578, 27870040]]
ENST00000587277 [[27717942, 27718042], [27778472, 27778725]] None
ENST00000577583 [[27807088, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27842015]] None
ENST00000578653 [[27849305, 27849537], [27857424, 27857756]] None
NM_025142 [[27717942, 27718042], [27778472, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27857424, 27857637], [27861135, 27861318], [27869578, 27878921]] [[27778566, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27857424, 27857637], [27861135, 27861318], [27869578, 27870040]]
NM_020791 [[27717942, 27718042], [27778472, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27844470, 27844674], [27849297, 27849537], [27857424, 27857637], [27861135, 27861318], [27869578, 27878921]] [[27778566, 27778698], [27794162, 27794234], [27802687, 27802789], [27804678, 27804724], [27805268, 27805365], [27807385, 27807499], [27809214, 27809306], [27816681, 27816775], [27818801, 27818883], [27822577, 27822745], [27825335, 27825539], [27829606, 27829741], [27834913, 27835150], [27837881, 27838010], [27844470, 27844674], [27849297, 27849537], [27857424, 27857637], [27861135, 27861318], [27869578, 27870040]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I029743 29743911 29745752 1.4 [{'connected_gene': 'GOSR1', 'score': 103.41}, {'connected_gene': 'LRRC37BP1', 'score': 84.65}, {'connected_gene': 'SH3GL1P2', 'score': 57.87}, {'connected_gene': 'SUZ12P1', 'score': 46.3}, {'connected_gene': 'SMURF2P1', 'score': 41.45}, {'connected_gene': 'CORO6', 'score': 35.46}, {'connected_gene': 'NUFIP2', 'score': 23.59}, {'connected_gene': 'TBC1D29', 'score': 14.6}, {'connected_gene': 'ENSG00000264290', 'score': 14.19}, {'connected_gene': 'LOC101927018', 'score': 13.53}, {'connected_gene': 'PHF12', 'score': 13.06}, {'connected_gene': 'ANKRD13B', 'score': 13.01}, {'connected_gene': 'NSRP1', 'score': 12.57}, {'connected_gene': 'ENSG00000265908', 'score': 11.37}, {'connected_gene': 'RNU6-920P', 'score': 10.89}, {'connected_gene': 'ERAL1', 'score': 9.94}, {'connected_gene': 'TAOK1', 'score': 9.71}, {'connected_gene': 'ENSG00000239129', 'score': 9.12}, {'connected_gene': 'ENSG00000263657', 'score': 0.37}, {'connected_gene': 'RPL21P123', 'score': 0.31}, {'connected_gene': 'SSH2', 'score': 0.09}]
chr17 GH17I029060 29060624 29060753 0.68 [{'connected_gene': 'TIAF1', 'score': 6.41}, {'connected_gene': 'TAOK1', 'score': 1.46}, {'connected_gene': 'NDUFS5P7', 'score': 0.28}, {'connected_gene': 'GC17M029118', 'score': 0.07}]
chr17 GH17I029037 29037351 29041483 1.34 [{'connected_gene': 'TIAF1', 'score': 20.58}, {'connected_gene': 'MYO18A', 'score': 17.3}, {'connected_gene': 'SEZ6', 'score': 11.74}, {'connected_gene': 'TAOK1', 'score': 1.66}, {'connected_gene': 'NDUFS5P7', 'score': 0.37}, {'connected_gene': 'PIPOX', 'score': 0.17}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17 GH17I029376 29376220 29377436 1.11 [{'connected_gene': 'TP53I13', 'score': 5.99}, {'connected_gene': 'MYO18A', 'score': 4.72}, {'connected_gene': 'TAOK1', 'score': 3.2}, {'connected_gene': 'TIAF1', 'score': 2.36}, {'connected_gene': 'GIT1', 'score': 1.92}, {'connected_gene': 'GC17M029364', 'score': 0.39}, {'connected_gene': 'RNU4-34P', 'score': 0.39}, {'connected_gene': 'ENSG00000264808', 'score': 0.39}, {'connected_gene': 'ENSG00000266111', 'score': 0.34}]
chr17 GH17I029497 29497920 29497927 0.22 [{'connected_gene': 'TP53I13', 'score': 11.67}, {'connected_gene': 'ABHD15', 'score': 11.67}, {'connected_gene': 'TAOK1', 'score': 2.15}, {'connected_gene': 'EFCAB5', 'score': 1.94}, {'connected_gene': 'MYO18A', 'score': 1.5}, {'connected_gene': 'ANKRD13B', 'score': 1.28}, {'connected_gene': 'TIAF1', 'score': 1.27}, {'connected_gene': 'GC17P029533', 'score': 0.28}, {'connected_gene': 'RNU6-1034P', 'score': 0.23}]
chr17 GH17I029433 29433483 29434396 0.76 [{'connected_gene': 'TP53I13', 'score': 5.75}, {'connected_gene': 'RNU6-711P', 'score': 0.44}, {'connected_gene': 'RNU6-1034P', 'score': 0.39}, {'connected_gene': 'TAOK1', 'score': 0.26}]
chr17 GH17I029691 29691801 29693191 1.52 [{'connected_gene': 'CORO6', 'score': 37.99}, {'connected_gene': 'LRRC37BP1', 'score': 11.93}, {'connected_gene': 'SMURF2P1', 'score': 11.72}, {'connected_gene': 'RNU6-920P', 'score': 10.72}, {'connected_gene': 'GOSR1', 'score': 10.11}, {'connected_gene': 'NSRP1', 'score': 3.18}, {'connected_gene': 'SSH2', 'score': 3.02}, {'connected_gene': 'NUFIP2', 'score': 2.61}, {'connected_gene': 'TAOK1', 'score': 2.3}, {'connected_gene': 'RPL21P123', 'score': 0.34}, {'connected_gene': 'ENSG00000265625', 'score': 0.25}, {'connected_gene': 'ABHD15-AS1', 'score': 0.12}]
chr17 GH17I029718 29718753 29725399 1.63 [{'connected_gene': 'CORO6', 'score': 48.57}, {'connected_gene': 'RNU6-920P', 'score': 11.41}, {'connected_gene': 'NUFIP2', 'score': 4.31}, {'connected_gene': 'SSH2', 'score': 2.31}, {'connected_gene': 'TAOK1', 'score': 2.3}, {'connected_gene': 'RPL21P123', 'score': 0.44}, {'connected_gene': 'ENSG00000263657', 'score': 0.28}]
chr17 GH17I029703 29703767 29714886 1.69 [{'connected_gene': 'CORO6', 'score': 48.61}, {'connected_gene': 'RNU6-920P', 'score': 11.81}, {'connected_gene': 'NUFIP2', 'score': 4.42}, {'connected_gene': 'TAOK1', 'score': 2.17}, {'connected_gene': 'SSH2', 'score': 1.88}, {'connected_gene': 'RPL21P123', 'score': 0.44}, {'connected_gene': 'ENSG00000265625', 'score': 0.21}, {'connected_gene': 'ABHD15-AS1', 'score': 0.11}]
chr17 GH17I029290 29290880 29295651 2.66 [{'connected_gene': 'NUFIP2', 'score': 575.54}, {'connected_gene': 'ENSG00000264577', 'score': 28.36}, {'connected_gene': 'SUPT6H', 'score': 24.47}, {'connected_gene': 'TMEM199', 'score': 23.25}, {'connected_gene': 'LOC101927018', 'score': 22.46}, {'connected_gene': 'PHF12', 'score': 19.81}, {'connected_gene': 'RPL23A', 'score': 19.41}, {'connected_gene': 'ENSG00000264044', 'score': 18.16}, {'connected_gene': 'RAB34', 'score': 17.23}, {'connected_gene': 'MYO18A', 'score': 14.14}, {'connected_gene': 'SDF2', 'score': 14.14}, {'connected_gene': 'NEK8', 'score': 12.21}, {'connected_gene': 'SARM1', 'score': 11.69}, {'connected_gene': 'ANKRD13B', 'score': 11.5}, {'connected_gene': 'ENSG00000265474', 'score': 11.21}, {'connected_gene': 'ENSG00000265908', 'score': 10.6}, {'connected_gene': 'NSRP1', 'score': 10.45}, {'connected_gene': 'TAOK1', 'score': 10.0}, {'connected_gene': 'GC17M029118', 'score': 0.39}, {'connected_gene': 'CRYBA1', 'score': 0.25}]
chr17 GH17I028841 28841340 28843400 2.03 [{'connected_gene': 'FAM222B', 'score': 550.39}, {'connected_gene': 'RAB34', 'score': 14.71}, {'connected_gene': 'TRAF4', 'score': 11.57}, {'connected_gene': 'SARM1', 'score': 10.82}, {'connected_gene': 'RPL23A', 'score': 10.14}, {'connected_gene': 'TAOK1', 'score': 9.69}, {'connected_gene': 'GIT1', 'score': 3.76}, {'connected_gene': 'ENSG00000264138', 'score': 0.44}, {'connected_gene': 'ENSG00000238516', 'score': 0.44}]
chr17 GH17I029212 29212250 29213574 1.43 [{'connected_gene': 'MYO18A', 'score': 15.26}, {'connected_gene': 'CRYBA1', 'score': 12.43}, {'connected_gene': 'TIAF1', 'score': 6.93}, {'connected_gene': 'TAOK1', 'score': 3.05}, {'connected_gene': 'NEK8', 'score': 1.89}, {'connected_gene': 'GIT1', 'score': 1.72}, {'connected_gene': 'TWF1P1', 'score': 0.44}, {'connected_gene': 'GC17M029118', 'score': 0.16}]
chr17 GH17I028936 28936513 28938096 1.46 [{'connected_gene': 'FLOT2', 'score': 27.21}, {'connected_gene': 'PHF12', 'score': 19.53}, {'connected_gene': 'DHRS13', 'score': 12.22}, {'connected_gene': 'TIAF1', 'score': 6.79}, {'connected_gene': 'NUFIP2', 'score': 3.61}, {'connected_gene': 'UNC119', 'score': 3.25}, {'connected_gene': 'SDF2', 'score': 2.48}, {'connected_gene': 'TAOK1', 'score': 1.73}, {'connected_gene': 'ENSG00000265908', 'score': 0.44}, {'connected_gene': 'LOC101927018', 'score': 0.39}]
chr17 GH17I029725 29725698 29728199 1.62 [{'connected_gene': 'RNU6-920P', 'score': 11.77}, {'connected_gene': 'CORO6', 'score': 10.73}, {'connected_gene': 'ENSG00000239129', 'score': 9.86}, {'connected_gene': 'NUFIP2', 'score': 3.93}, {'connected_gene': 'TAOK1', 'score': 1.85}, {'connected_gene': 'RPL21P123', 'score': 0.39}, {'connected_gene': 'ENSG00000263657', 'score': 0.29}, {'connected_gene': 'SSH2', 'score': 0.08}]
chr17 GH17I029450 29450283 29450432 0.57 [{'connected_gene': 'RNU6-711P', 'score': 12.09}, {'connected_gene': 'TAOK1', 'score': 11.98}, {'connected_gene': 'RNU4-34P', 'score': 11.97}, {'connected_gene': 'RNU6-1034P', 'score': 0.77}, {'connected_gene': 'GC17P029533', 'score': 0.18}]
chr17 GH17I029401 29401383 29401532 0.52 [{'connected_gene': 'ENSG00000264577', 'score': 12.67}, {'connected_gene': 'SUPT6H', 'score': 12.18}, {'connected_gene': 'NUFIP2', 'score': 10.02}, {'connected_gene': 'TP53I13', 'score': 5.6}, {'connected_gene': 'GC17M029394', 'score': 0.77}, {'connected_gene': 'ENSG00000264808', 'score': 0.39}, {'connected_gene': 'TAOK1', 'score': 0.39}, {'connected_gene': 'ENSG00000266111', 'score': 0.25}]
chr17 GH17I029537 29537083 29537232 0.59 [{'connected_gene': 'GC17P029533', 'score': 0.77}, {'connected_gene': 'GC17P029551', 'score': 0.39}, {'connected_gene': 'TAOK1', 'score': 0.11}]
chr17 GH17I029412 29412201 29414376 0.69 [{'connected_gene': 'GC17P029416', 'score': 550.77}, {'connected_gene': 'GC17P029417', 'score': 550.77}, {'connected_gene': 'GC17P029414', 'score': 550.77}, {'connected_gene': 'GC17P029418', 'score': 550.77}, {'connected_gene': 'GC17P029413', 'score': 550.77}, {'connected_gene': 'GC17P029419', 'score': 550.77}, {'connected_gene': 'PIR55086', 'score': 550.77}, {'connected_gene': 'GC17P029415', 'score': 550.77}, {'connected_gene': 'ENSG00000264808', 'score': 8.43}, {'connected_gene': 'SPAG5', 'score': 5.67}, {'connected_gene': 'PROCA1', 'score': 5.26}, {'connected_gene': 'RNU6-711P', 'score': 0.39}, {'connected_gene': 'TAOK1', 'score': 0.34}]
chr17 GH17I029551 29551661 29551912 0.4 [{'connected_gene': 'GC17P029551', 'score': 550.77}, {'connected_gene': 'ABHD15-AS1', 'score': 0.44}, {'connected_gene': 'TAOK1', 'score': 0.1}]
chr17 GH17I029389 29389600 29392201 2.07 [{'connected_gene': 'ENSG00000264808', 'score': 550.77}, {'connected_gene': 'MIR4523', 'score': 550.77}, {'connected_gene': 'TAOK1', 'score': 550.77}, {'connected_gene': 'RAB34', 'score': 14.61}, {'connected_gene': 'NSRP1', 'score': 10.45}, {'connected_gene': 'RPL23A', 'score': 10.04}, {'connected_gene': 'TP53I13', 'score': 5.95}, {'connected_gene': 'GC17M029394', 'score': 0.39}, {'connected_gene': 'ENSG00000266111', 'score': 0.28}]

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