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
ENST00000583728 [[27916786, 27916880], [27934759, 27934895], [27935003, 27935128], [27935212, 27935258], [27935868, 27936012], [27936103, 27936140]] [[27935233, 27935258], [27935868, 27936012], [27936103, 27936140]]
ENST00000487527 [[27916800, 27916880], [27934759, 27935017], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27941779]] None
ENST00000394859 [[27920485, 27920753], [27934759, 27934895], [27935003, 27935128], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27941779]] [[27920639, 27920753], [27934759, 27934895], [27935003, 27935128], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27940600]]
ENST00000488766 [[27920485, 27920753], [27934759, 27934895], [27935003, 27935128], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27940737], [27941280, 27941779]] [[27920639, 27920753], [27934759, 27934895], [27935003, 27935128], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27940600]]
ENST00000493506 [[27926400, 27926466], [27934759, 27935017], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27940737], [27941280, 27941778]] None
ENST00000578811 [[27926429, 27926466], [27934759, 27935128], [27935212, 27935258], [27935868, 27935974]] None
ENST00000578943 [[27935669, 27936012], [27936103, 27936439], [27937702, 27937766]] None
ENST00000579719 [[27939481, 27939572], [27939669, 27939833], [27939904, 27940192]] [[27939481, 27939572], [27939669, 27939833], [27939904, 27940036]]
NM_152345 [[27920526, 27920753], [27934759, 27934895], [27935003, 27935128], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27941779]] [[27920639, 27920753], [27934759, 27934895], [27935003, 27935128], [27935212, 27935258], [27935868, 27936012], [27936103, 27936293], [27936372, 27936439], [27937702, 27937784], [27938596, 27938661], [27938893, 27939024], [27939133, 27939291], [27939419, 27939572], [27939669, 27939833], [27939904, 27939981], [27940371, 27940600]]
Promoter
Chrom Start End Description
chr17 27920006 27920019 CAGE_peak_5_at_ANKRD13B_5end
chr17 27920063 27920074 CAGE_peak_13_at_ANKRD13B_5end
chr17 27920100 27920122 CAGE_peak_4_at_ANKRD13B_5end
chr17 27920137 27920192 CAGE_peak_1_at_ANKRD13B_5end
chr17 27920353 27920388 CAGE_peak_3_at_ANKRD13B_5end
chr17 27920492 27920525 CAGE_peak_2_at_ANKRD13B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I029731 29731577 29735425 1.13 [{'connected_gene': 'GOSR1', 'score': 54.76}, {'connected_gene': 'CORO6', 'score': 49.27}, {'connected_gene': 'SH3GL1P2', 'score': 35.08}, {'connected_gene': 'SMURF2P1', 'score': 28.27}, {'connected_gene': 'NUFIP2', 'score': 20.21}, {'connected_gene': 'ANKRD13B', 'score': 19.53}, {'connected_gene': 'LRRC37BP1', 'score': 14.83}, {'connected_gene': 'RNU6-920P', 'score': 11.77}, {'connected_gene': 'SUZ12P1', 'score': 10.69}, {'connected_gene': 'NSRP1', 'score': 10.17}, {'connected_gene': 'ENSG00000239129', 'score': 9.87}, {'connected_gene': 'LOC101927093', 'score': 4.51}, {'connected_gene': 'TP53I13', 'score': 4.16}, {'connected_gene': 'RPL21P123', 'score': 0.37}, {'connected_gene': 'ENSG00000263657', 'score': 0.31}, {'connected_gene': 'SSH2', 'score': 0.08}]
chr17 GH17I029612 29612817 29614432 1.55 [{'connected_gene': 'GOSR1', 'score': 16.26}, {'connected_gene': 'ENSG00000264577', 'score': 12.67}, {'connected_gene': 'SUPT6H', 'score': 12.18}, {'connected_gene': 'NUFIP2', 'score': 9.93}, {'connected_gene': 'SMURF2P1', 'score': 9.76}, {'connected_gene': 'ENSG00000264007', 'score': 0.44}, {'connected_gene': 'GIT1', 'score': 0.37}, {'connected_gene': 'ANKRD13B', 'score': 0.34}, {'connected_gene': 'ABHD15-AS1', 'score': 0.23}]
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 GH17I029577 29577230 29578672 0.63 [{'connected_gene': 'TP53I13', 'score': 28.57}, {'connected_gene': 'CORO6', 'score': 27.86}, {'connected_gene': 'RNU6-920P', 'score': 10.57}, {'connected_gene': 'GC17P029570', 'score': 0.44}, {'connected_gene': 'ANKRD13B', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.37}, {'connected_gene': 'ABHD15-AS1', 'score': 0.37}]
chr17 GH17I029579 29579943 29582503 1.16 [{'connected_gene': 'TP53I13', 'score': 41.64}, {'connected_gene': 'CORO6', 'score': 28.35}, {'connected_gene': 'RNU6-920P', 'score': 10.57}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'GC17P029570', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.39}, {'connected_gene': 'ABHD15-AS1', 'score': 0.34}]
chr17 GH17I029571 29571451 29576019 1.34 [{'connected_gene': 'TP53I13', 'score': 44.41}, {'connected_gene': 'CORO6', 'score': 11.85}, {'connected_gene': 'RNU6-920P', 'score': 10.57}, {'connected_gene': 'ANKRD13B', 'score': 7.98}, {'connected_gene': 'GC17P029570', 'score': 0.77}, {'connected_gene': 'ABHD15-AS1', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.34}]
chr17 GH17I029565 29565091 29569916 2 [{'connected_gene': 'TP53I13', 'score': 596.0}, {'connected_gene': 'ABHD15', 'score': 556.03}, {'connected_gene': 'CORO6', 'score': 15.93}, {'connected_gene': 'ANKRD13B', 'score': 4.87}, {'connected_gene': 'ENSG00000264290', 'score': 0.77}, {'connected_gene': 'ABHD15-AS1', 'score': 0.44}]
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 GH17I029596 29596452 29596595 0.54 [{'connected_gene': 'CORO6', 'score': 12.71}, {'connected_gene': 'GIT1', 'score': 0.77}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'ENSG00000264007', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.28}]
chr17 GH17I029608 29608413 29610033 0.2 [{'connected_gene': 'CORO6', 'score': 52.69}, {'connected_gene': 'ENSG00000264007', 'score': 0.39}, {'connected_gene': 'ANKRD13B', 'score': 0.37}, {'connected_gene': 'GIT1', 'score': 0.37}, {'connected_gene': 'ABHD15-AS1', 'score': 0.25}]
chr17 GH17I029597 29597016 29598208 0.98 [{'connected_gene': 'CORO6', 'score': 39.24}, {'connected_gene': 'ANKRD13B', 'score': 5.33}, {'connected_gene': 'GIT1', 'score': 0.77}, {'connected_gene': 'ENSG00000264007', 'score': 0.34}, {'connected_gene': 'ABHD15-AS1', 'score': 0.28}]
chr17 GH17I029583 29583983 29586200 0.92 [{'connected_gene': 'CORO6', 'score': 17.52}, {'connected_gene': 'ANKRD13B', 'score': 10.83}, {'connected_gene': 'GIT1', 'score': 0.44}, {'connected_gene': 'GC17P029570', 'score': 0.39}, {'connected_gene': 'ABHD15-AS1', 'score': 0.34}]
chr17 GH17I029673 29673843 29675009 0.66 [{'connected_gene': 'CORO6', 'score': 39.27}, {'connected_gene': 'RNU6-920P', 'score': 11.69}, {'connected_gene': 'ANKRD13B', 'score': 4.56}, {'connected_gene': 'ENSG00000265625', 'score': 0.31}, {'connected_gene': 'RPL21P123', 'score': 0.26}, {'connected_gene': 'ABHD15-AS1', 'score': 0.14}, {'connected_gene': 'SSH2', 'score': 0.07}]
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 GH17I029594 29594893 29595715 0.46 [{'connected_gene': 'GIT1', 'score': 550.77}, {'connected_gene': 'TP53I13', 'score': 17.61}, {'connected_gene': 'CORO6', 'score': 12.71}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'ENSG00000264007', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.29}]
chr17 GH17I029595 29595813 29596205 0.43 [{'connected_gene': 'GIT1', 'score': 550.77}, {'connected_gene': 'CORO6', 'score': 12.71}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'ENSG00000264007', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.28}]
chr17 GH17I029215 29215743 29217763 0.72 [{'connected_gene': 'ANKRD13B', 'score': 12.96}, {'connected_gene': 'MYO18A', 'score': 7.68}, {'connected_gene': 'TIAF1', 'score': 6.07}, {'connected_gene': 'RAB34', 'score': 4.21}, {'connected_gene': 'TWF1P1', 'score': 0.39}, {'connected_gene': 'CRYBA1', 'score': 0.29}, {'connected_gene': 'GC17M029118', 'score': 0.17}]
chr17 GH17I029586 29586391 29594813 2.55 [{'connected_gene': 'ANKRD13B', 'score': 562.7}, {'connected_gene': 'GIT1', 'score': 552.08}, {'connected_gene': 'ENSG00000264647', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 46.36}, {'connected_gene': 'NUFIP2', 'score': 43.18}, {'connected_gene': 'ENSG00000264577', 'score': 37.76}, {'connected_gene': 'TP53I13', 'score': 35.72}, {'connected_gene': 'CORO6', 'score': 35.27}, {'connected_gene': 'PHF12', 'score': 34.38}, {'connected_gene': 'ENSG00000265908', 'score': 33.29}, {'connected_gene': 'GOSR1', 'score': 23.29}, {'connected_gene': 'ENSG00000265205', 'score': 21.21}, {'connected_gene': 'LOC101927018', 'score': 21.19}, {'connected_gene': 'SDF2', 'score': 12.42}, {'connected_gene': 'ENSG00000264290', 'score': 10.04}, {'connected_gene': 'EFCAB5', 'score': 2.68}, {'connected_gene': 'ABHD15-AS1', 'score': 0.29}]
chr17 GH17I029584 29583247 29583460 0.2 [{'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'GC17P029570', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.39}, {'connected_gene': 'ABHD15-AS1', 'score': 0.34}]
chr17 GH17I029638 29638361 29646584 1.71 [{'connected_gene': 'RNU6-920P', 'score': 550.77}, {'connected_gene': 'GC17M029642', 'score': 550.77}, {'connected_gene': 'CORO6', 'score': 51.85}, {'connected_gene': 'SUPT6H', 'score': 46.17}, {'connected_gene': 'NUFIP2', 'score': 41.19}, {'connected_gene': 'ENSG00000264577', 'score': 39.03}, {'connected_gene': 'SH3GL1P2', 'score': 36.84}, {'connected_gene': 'GOSR1', 'score': 35.52}, {'connected_gene': 'PHF12', 'score': 25.71}, {'connected_gene': 'ENSG00000265908', 'score': 23.93}, {'connected_gene': 'ENSG00000265205', 'score': 23.44}, {'connected_gene': 'SMURF2P1', 'score': 22.57}, {'connected_gene': 'LOC101927018', 'score': 15.21}, {'connected_gene': 'ANKRD13B', 'score': 13.64}, {'connected_gene': 'LRRC37BP1', 'score': 12.78}, {'connected_gene': 'ENSG00000252657', 'score': 12.41}, {'connected_gene': 'ENSG00000264290', 'score': 10.57}, {'connected_gene': 'SDF2', 'score': 10.55}, {'connected_gene': 'TBC1D29', 'score': 10.08}, {'connected_gene': 'ENSG00000239129', 'score': 9.39}, {'connected_gene': 'ENSG00000263370', 'score': 0.77}, {'connected_gene': 'ENSG00000265625', 'score': 0.77}, {'connected_gene': 'ABHD15-AS1', 'score': 0.18}, {'connected_gene': 'SSH2', 'score': 0.06}]
chr17 GH17I029667 29667684 29669856 1.09 [{'connected_gene': 'RNU6-920P', 'score': 12.46}, {'connected_gene': 'CORO6', 'score': 10.96}, {'connected_gene': 'ANKRD13B', 'score': 5.43}, {'connected_gene': 'ENSG00000265625', 'score': 0.34}, {'connected_gene': 'RPL21P123', 'score': 0.25}, {'connected_gene': 'ABHD15-AS1', 'score': 0.14}, {'connected_gene': 'SSH2', 'score': 0.07}]
chr17 GH17I029603 29603149 29603814 0.38 [{'connected_gene': 'RNU6-920P', 'score': 11.0}, {'connected_gene': 'GIT1', 'score': 0.44}, {'connected_gene': 'ANKRD13B', 'score': 0.39}, {'connected_gene': 'ENSG00000264007', 'score': 0.37}, {'connected_gene': 'ABHD15-AS1', 'score': 0.26}]
chr17 GH17I028923 28923680 28928446 1.56 [{'connected_gene': 'LOC101927018', 'score': 550.77}, {'connected_gene': 'PHF12', 'score': 15.47}, {'connected_gene': 'FLOT2', 'score': 13.3}, {'connected_gene': 'DHRS13', 'score': 12.48}, {'connected_gene': 'FAM222B', 'score': 11.82}, {'connected_gene': 'ERAL1', 'score': 11.82}, {'connected_gene': 'SEZ6', 'score': 11.67}, {'connected_gene': 'SUPT6H', 'score': 11.35}, {'connected_gene': 'NUFIP2', 'score': 11.09}, {'connected_gene': 'SNORD4A', 'score': 10.91}, {'connected_gene': 'SNORD42A', 'score': 10.91}, {'connected_gene': 'SNORD4B', 'score': 10.91}, {'connected_gene': 'ENSG00000264044', 'score': 9.77}, {'connected_gene': 'ENSG00000264577', 'score': 9.73}, {'connected_gene': 'PROCA1', 'score': 7.03}, {'connected_gene': 'ANKRD13B', 'score': 4.53}, {'connected_gene': 'NEK8', 'score': 3.23}, {'connected_gene': 'UNC119', 'score': 1.71}, {'connected_gene': 'SDF2', 'score': 1.21}]
chr17 GH17I029614 29614703 29614852 0.4 [{'connected_gene': 'ENSG00000264007', 'score': 0.44}, {'connected_gene': 'CORO6', 'score': 0.44}, {'connected_gene': 'GIT1', 'score': 0.34}, {'connected_gene': 'ANKRD13B', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.23}]
chr17 GH17I028715 28715726 28730121 2.55 [{'connected_gene': 'ENSG00000264577', 'score': 602.17}, {'connected_gene': 'RPL23A', 'score': 570.15}, {'connected_gene': 'RAB34', 'score': 565.36}, {'connected_gene': 'NEK8', 'score': 562.95}, {'connected_gene': 'SNORD42A', 'score': 550.77}, {'connected_gene': 'GC17P028741', 'score': 550.77}, {'connected_gene': 'PIR32969', 'score': 550.77}, {'connected_gene': 'GC17P028753', 'score': 550.77}, {'connected_gene': 'SNORD4A', 'score': 550.77}, {'connected_gene': 'GC17P028748', 'score': 550.77}, {'connected_gene': 'SNORD4B', 'score': 550.77}, {'connected_gene': 'GC17P028746', 'score': 550.77}, {'connected_gene': 'TLCD1', 'score': 550.44}, {'connected_gene': 'SUPT6H', 'score': 56.1}, {'connected_gene': 'NUFIP2', 'score': 54.07}, {'connected_gene': 'PHF12', 'score': 43.6}, {'connected_gene': 'ENSG00000265908', 'score': 33.33}, {'connected_gene': 'TMEM199', 'score': 32.72}, {'connected_gene': 'SDF2', 'score': 24.92}, {'connected_gene': 'PROCA1', 'score': 22.42}, {'connected_gene': 'ENSG00000265205', 'score': 21.42}, {'connected_gene': 'LOC101927018', 'score': 21.24}, {'connected_gene': 'SARM1', 'score': 20.2}, {'connected_gene': 'ANKRD13B', 'score': 19.45}, {'connected_gene': 'PIGS', 'score': 12.49}, {'connected_gene': 'ENSG00000265474', 'score': 11.52}, {'connected_gene': 'ENSG00000264044', 'score': 10.72}, {'connected_gene': 'ENSG00000264290', 'score': 9.73}, {'connected_gene': 'GIT1', 'score': 3.74}, {'connected_gene': 'ENSG00000267729', 'score': 0.77}, {'connected_gene': 'GC17P028754', 'score': 0.77}, {'connected_gene': 'GC17P028744', 'score': 0.77}, {'connected_gene': 'PIR31809', 'score': 0.77}, {'connected_gene': 'SNORD42B', 'score': 0.77}, {'connected_gene': 'GC17P028751', 'score': 0.77}]
chr17 GH17I029383 29383404 29384529 0.38 [{'connected_gene': 'ENSG00000264808', 'score': 8.16}, {'connected_gene': 'ANKRD13B', 'score': 4.08}, {'connected_gene': 'RNU4-34P', 'score': 0.77}, {'connected_gene': 'GC17M029364', 'score': 0.37}, {'connected_gene': 'ENSG00000266111', 'score': 0.29}]

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