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
ENST00000371804 [[91152302, 91152474], [91162037, 91163745]] [[91152469, 91152474], [91162037, 91163469]]
ENST00000546318 [[91158561, 91159760], [91162037, 91163607]] [[91162125, 91163469]]
NM_001548 [[91152302, 91152474], [91162037, 91166244]] [[91152469, 91152474], [91162037, 91163469]]
NM_001270929 [[91152302, 91152474], [91159651, 91159760], [91162037, 91166244]] [[91162125, 91163469]]
NM_001270928 [[91152302, 91152474], [91159646, 91159760], [91162037, 91166244]] [[91162125, 91163469]]
NM_001270927 [[91152302, 91152474], [91152863, 91152960], [91162037, 91166244]] [[91152955, 91152960], [91162037, 91163469]]
NM_001270930 [[91152302, 91152474], [91152863, 91153098], [91162037, 91166244]] [[91162125, 91163469]]
Promoter
Chrom Start End Description
chr10 91152368 91152419 CAGE_peak_1_at_IFIT1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I089122 89122355 89123905 0.91 [{'connected_gene': 'CH25H', 'score': 10.82}, {'connected_gene': 'IFIT5', 'score': 10.77}, {'connected_gene': 'IFIT3', 'score': 7.34}, {'connected_gene': 'IFIT2', 'score': 6.78}, {'connected_gene': 'ANKRD22', 'score': 2.59}, {'connected_gene': 'IFIT1', 'score': 2.29}, {'connected_gene': 'LIPN', 'score': 1.55}, {'connected_gene': 'GC10P089110', 'score': 0.37}, {'connected_gene': 'LOC100289238', 'score': 0.37}]
chr10 GH10I089265 89265629 89266264 0.2 [{'connected_gene': 'IFIT1B', 'score': 11.77}, {'connected_gene': 'IFIT3', 'score': 11.2}, {'connected_gene': 'IFIT1', 'score': 11.17}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.31}, {'connected_gene': 'IFIT5', 'score': 4.58}, {'connected_gene': 'IFIT2', 'score': 0.37}, {'connected_gene': 'GC10P089210', 'score': 0.22}, {'connected_gene': 'GC10M089235', 'score': 0.13}, {'connected_gene': 'LIPA', 'score': 0.11}]
chr10 GH10I089355 89355584 89355733 0.92 [{'connected_gene': 'IFIT1B', 'score': 11.97}, {'connected_gene': 'ENSG00000232110', 'score': 11.92}, {'connected_gene': 'IFIT3', 'score': 11.9}, {'connected_gene': 'IFIT1', 'score': 11.01}, {'connected_gene': 'IFIT6P', 'score': 0.44}, {'connected_gene': 'LOC101926887', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.31}, {'connected_gene': 'LIPA', 'score': 0.22}]
chr10 GH10I089406 89406738 89406859 0.22 [{'connected_gene': 'IFIT1B', 'score': 11.02}, {'connected_gene': 'IFIT1', 'score': 2.24}, {'connected_gene': 'IFIT2', 'score': 1.52}, {'connected_gene': 'GC10P089413', 'score': 0.44}, {'connected_gene': 'LIPA', 'score': 0.44}]
chr10 GH10I089291 89291043 89292254 0.31 [{'connected_gene': 'IFIT3', 'score': 11.9}, {'connected_gene': 'IFIT1B', 'score': 11.18}, {'connected_gene': 'IFIT1', 'score': 10.76}, {'connected_gene': 'FAS', 'score': 9.0}, {'connected_gene': 'ENSG00000232110', 'score': 0.44}, {'connected_gene': 'IFIT2', 'score': 0.44}, {'connected_gene': 'LOC105378419', 'score': 0.34}, {'connected_gene': 'GC10M089235', 'score': 0.17}, {'connected_gene': 'LIPA', 'score': 0.13}]
chr10 GH10I089384 89384401 89385600 0.51 [{'connected_gene': 'IFIT3', 'score': 11.71}, {'connected_gene': 'GC10M089235', 'score': 0.77}, {'connected_gene': 'IFIT1', 'score': 0.44}, {'connected_gene': 'IFIT1B', 'score': 0.44}, {'connected_gene': 'LIPA', 'score': 0.31}]
chr10 GH10I089260 89260004 89265043 1.53 [{'connected_gene': 'IFIT3', 'score': 16.68}, {'connected_gene': 'IFIT2', 'score': 15.92}, {'connected_gene': 'IFIT1', 'score': 13.4}, {'connected_gene': 'IFIT1B', 'score': 11.76}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.31}, {'connected_gene': 'IFIT5', 'score': 7.55}, {'connected_gene': 'ENSG00000232110', 'score': 5.14}, {'connected_gene': 'GC10P089210', 'score': 0.23}, {'connected_gene': 'GC10M089235', 'score': 0.13}, {'connected_gene': 'LIPA', 'score': 0.1}]
chr10 GH10I089163 89163264 89164600 1.15 [{'connected_gene': 'IFIT3', 'score': 42.47}, {'connected_gene': 'IFIT2', 'score': 38.85}, {'connected_gene': 'IFIT5', 'score': 29.39}, {'connected_gene': 'IFIT1', 'score': 7.43}, {'connected_gene': 'CH25H', 'score': 5.44}, {'connected_gene': 'ANKRD22', 'score': 2.45}, {'connected_gene': 'FAS', 'score': 1.53}, {'connected_gene': 'GC10P089171', 'score': 0.44}, {'connected_gene': 'LOC100289238', 'score': 0.34}]
chr10 GH10I089295 89295017 89298034 1.2 [{'connected_gene': 'IFIT3', 'score': 54.04}, {'connected_gene': 'IFIT2', 'score': 40.86}, {'connected_gene': 'IFIT5', 'score': 36.17}, {'connected_gene': 'IFIT1', 'score': 18.4}, {'connected_gene': 'IFIT1B', 'score': 11.19}, {'connected_gene': 'FAS', 'score': 10.34}, {'connected_gene': 'ENSG00000232110', 'score': 0.39}, {'connected_gene': 'LOC105378419', 'score': 0.37}, {'connected_gene': 'GC10M089235', 'score': 0.18}, {'connected_gene': 'LIPA', 'score': 0.13}]
chr10 GH10I089234 89234464 89236013 0.86 [{'connected_gene': 'IFIT3', 'score': 29.88}, {'connected_gene': 'IFIT2', 'score': 23.62}, {'connected_gene': 'IFIT5', 'score': 19.69}, {'connected_gene': 'IFIT1', 'score': 4.54}, {'connected_gene': 'ANKRD22', 'score': 2.24}, {'connected_gene': 'FAS', 'score': 1.46}, {'connected_gene': 'GC10P089210', 'score': 0.31}, {'connected_gene': 'GC10M089235', 'score': 0.11}, {'connected_gene': 'LIPA', 'score': 0.1}]
chr10 GH10I089156 89156202 89156279 0.33 [{'connected_gene': 'IFIT3', 'score': 20.64}, {'connected_gene': 'IFIT2', 'score': 18.89}, {'connected_gene': 'IFIT5', 'score': 18.18}, {'connected_gene': 'IFIT1', 'score': 5.89}, {'connected_gene': 'LOC100289238', 'score': 0.37}, {'connected_gene': 'GC10P089171', 'score': 0.37}]
chr10 GH10I089330 89330107 89335327 2.11 [{'connected_gene': 'IFIT3', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 23.17}, {'connected_gene': 'IFIT2', 'score': 11.83}, {'connected_gene': 'IFIT1B', 'score': 11.73}, {'connected_gene': 'ENSG00000232110', 'score': 11.7}, {'connected_gene': 'IFIT1', 'score': 11.28}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.25}, {'connected_gene': 'LIPA', 'score': 0.18}]
chr10 GH10I089326 89326186 89329839 2.12 [{'connected_gene': 'IFIT3', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 26.28}, {'connected_gene': 'IFIT2', 'score': 11.84}, {'connected_gene': 'ENSG00000232110', 'score': 11.27}, {'connected_gene': 'IFIT1', 'score': 11.27}, {'connected_gene': 'LOC101926887', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.23}, {'connected_gene': 'LIPA', 'score': 0.17}]
chr10 GH10I089887 89887166 89890867 0.77 [{'connected_gene': 'IFIT1', 'score': 6.27}, {'connected_gene': 'HTR7', 'score': 4.9}, {'connected_gene': 'LINC00865', 'score': 4.83}, {'connected_gene': 'LIPA', 'score': 4.48}, {'connected_gene': 'GC10M089924', 'score': 0.28}, {'connected_gene': 'PIR54261', 'score': 0.25}]
chr10 GH10I089391 89391667 89394426 1.84 [{'connected_gene': 'IFIT1', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 34.61}, {'connected_gene': 'ENSG00000232110', 'score': 10.35}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.46}, {'connected_gene': 'GC10P089413', 'score': 0.34}, {'connected_gene': 'LIPA', 'score': 0.34}]
chr10 GH10I089392 89391004 89391153 0.43 [{'connected_gene': 'IFIT1', 'score': 550.77}, {'connected_gene': 'GC10M089235', 'score': 0.44}, {'connected_gene': 'LIPA', 'score': 0.34}]
chr10 GH10I089920 89920594 89922573 0.72 [{'connected_gene': 'IFIT1', 'score': 5.97}, {'connected_gene': 'GC10M089924', 'score': 0.77}, {'connected_gene': 'LINC01375', 'score': 0.28}, {'connected_gene': 'PIR54261', 'score': 0.18}]
chr10 GH10I089336 89336284 89336540 0.54 [{'connected_gene': 'IFIT2', 'score': 15.05}, {'connected_gene': 'IFIT1B', 'score': 11.75}, {'connected_gene': 'IFIT5', 'score': 11.64}, {'connected_gene': 'ENSG00000232110', 'score': 11.55}, {'connected_gene': 'IFIT3', 'score': 4.41}, {'connected_gene': 'IFIT1', 'score': 1.71}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.26}, {'connected_gene': 'LIPA', 'score': 0.18}]
chr10 GH10I089345 89345719 89353607 1.35 [{'connected_gene': 'IFIT5', 'score': 14.61}, {'connected_gene': 'IFIT3', 'score': 12.71}, {'connected_gene': 'KIF20B', 'score': 12.52}, {'connected_gene': 'IFIT1B', 'score': 11.94}, {'connected_gene': 'ENSG00000232110', 'score': 11.93}, {'connected_gene': 'IFIT2', 'score': 11.76}, {'connected_gene': 'IFIT1', 'score': 11.12}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'IFIT6P', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.29}, {'connected_gene': 'LIPA', 'score': 0.21}]
chr10 GH10I089367 89367319 89368471 0.87 [{'connected_gene': 'IFIT5', 'score': 15.17}, {'connected_gene': 'IFIT3', 'score': 11.84}, {'connected_gene': 'IFIT1', 'score': 11.54}, {'connected_gene': 'ENSG00000232110', 'score': 11.46}, {'connected_gene': 'LIPA', 'score': 10.59}, {'connected_gene': 'IFIT6P', 'score': 0.44}, {'connected_gene': 'IFIT1B', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.39}]
chr10 GH10I089368 89368878 89369813 0.96 [{'connected_gene': 'IFIT5', 'score': 20.53}, {'connected_gene': 'IFIT1', 'score': 15.97}, {'connected_gene': 'IFIT3', 'score': 11.84}, {'connected_gene': 'ENSG00000232110', 'score': 11.45}, {'connected_gene': 'IFIT2', 'score': 11.39}, {'connected_gene': 'LIPA', 'score': 10.59}, {'connected_gene': 'IFIT6P', 'score': 0.44}, {'connected_gene': 'IFIT1B', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.39}]
chr10 GH10I089337 89336893 89338067 1.09 [{'connected_gene': 'IFIT5', 'score': 26.29}, {'connected_gene': 'IFIT2', 'score': 24.19}, {'connected_gene': 'IFIT3', 'score': 14.03}, {'connected_gene': 'IFIT1B', 'score': 11.75}, {'connected_gene': 'ENSG00000232110', 'score': 11.55}, {'connected_gene': 'IFIT1', 'score': 4.01}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.26}, {'connected_gene': 'LIPA', 'score': 0.18}]
chr10 GH10I089363 89363084 89363173 0.65 [{'connected_gene': 'IFIT6P', 'score': 550.77}, {'connected_gene': 'IFIT3', 'score': 11.85}, {'connected_gene': 'IFIT1', 'score': 11.51}, {'connected_gene': 'ENSG00000232110', 'score': 11.46}, {'connected_gene': 'LIPA', 'score': 10.58}, {'connected_gene': 'IFIT5', 'score': 10.58}, {'connected_gene': 'IFIT1B', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.37}]
chr10 GH10I089412 89412404 89412533 0.56 [{'connected_gene': 'GC10P089413', 'score': 550.77}, {'connected_gene': 'IFIT1B', 'score': 11.07}, {'connected_gene': 'LIPA', 'score': 0.77}, {'connected_gene': 'IFIT1', 'score': 0.37}]
chr10 GH10I089398 89398201 89398400 0.43 [{'connected_gene': 'ENSG00000232110', 'score': 10.34}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.47}, {'connected_gene': 'IFIT1', 'score': 0.44}, {'connected_gene': 'GC10P089413', 'score': 0.37}, {'connected_gene': 'LIPA', 'score': 0.37}]