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
ENST00000372458 [[43829067, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43833585, 43833689]] [[43829586, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831280]]
ENST00000413844 [[43829072, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830856, 43831047], [43831234, 43831294], [43833585, 43833682]] [[43829586, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830856, 43831047], [43831234, 43831280]]
ENST00000468865 [[43829398, 43829808], [43829994, 43830131], [43830289, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43830939]] None
ENST00000464204 [[43829426, 43829808], [43829994, 43830131], [43830285, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43833585, 43833678]] None
ENST00000470968 [[43829441, 43829808], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43833585, 43833696]] None
ENST00000487209 [[43829506, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43831234, 43831294], [43833585, 43833670]] None
ENST00000470769 [[43829545, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43831938, 43832258]] None
ENST00000497569 [[43829664, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43832721, 43832775]] None
ENST00000482302 [[43829685, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43831938, 43832087], [43833007, 43833087]] None
ENST00000497050 [[43829720, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43833156, 43833409]] None
ENST00000478481 [[43830017, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830885]] None
ENST00000479439 [[43830212, 43830318], [43830408, 43830465], [43830598, 43830768], [43830856, 43831047], [43831234, 43831294], [43831938, 43832000]] None
ENST00000465321 [[43830214, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43831938, 43832082], [43833585, 43833674]] None
ENST00000479686 [[43830230, 43830318], [43830408, 43830465], [43830598, 43830679], [43831234, 43831294], [43833156, 43833287]] None
ENST00000496932 [[43830246, 43830465], [43830598, 43831047], [43831234, 43831294], [43833585, 43833636]] None
NM_001256399 [[43829067, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43833156, 43833409]] [[43829586, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831280]]
NM_022821 [[43829067, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43833585, 43833745]] [[43829586, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831280]]
NR_046117 [[43829067, 43829808], [43829994, 43830131], [43830285, 43830318], [43830408, 43830465], [43830598, 43830679], [43830856, 43831047], [43831234, 43831294], [43833585, 43833745]] None
NM_001256401 [[43829067, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830856, 43831047], [43831234, 43831294], [43833585, 43833745]] [[43829586, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830856, 43831047], [43831234, 43831280]]
NM_001256402 [[43829067, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830679], [43831234, 43831294], [43833585, 43833745]] [[43829586, 43829808], [43829994, 43830131], [43830212, 43830318], [43830408, 43830465], [43830598, 43830673]]
Promoter
Chrom Start End Description
chr1 43831977 43831990 CAGE_peak_9_at_ELOVL1_5end
chr1 43832006 43832027 CAGE_peak_5_at_ELOVL1_5end
chr1 43833263 43833293 CAGE_peak_2_at_ELOVL1_5end
chr1 43833312 43833323 CAGE_peak_7_at_ELOVL1_5end
chr1 43833336 43833359 CAGE_peak_6_at_ELOVL1_5end
chr1 43833361 43833391 CAGE_peak_3_at_ELOVL1_5end
chr1 43833628 43833703 CAGE_peak_1_at_ELOVL1_5end
chr1 43833710 43833723 CAGE_peak_4_at_ELOVL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I043323 43323472 43325280 0.46 [{'connected_gene': 'TIE1', 'score': 12.44}, {'connected_gene': 'CDC20', 'score': 10.91}, {'connected_gene': 'LOC105378687', 'score': 10.91}, {'connected_gene': 'ELOVL1', 'score': 10.88}, {'connected_gene': 'ENSG00000229431', 'score': 10.35}, {'connected_gene': 'MED8', 'score': 10.35}, {'connected_gene': 'SZT2', 'score': 4.74}, {'connected_gene': 'PIR52122', 'score': 0.77}]
chr1 GH01I043414 43414770 43414879 0.76 [{'connected_gene': 'ELOVL1', 'score': 11.35}, {'connected_gene': 'CDC20', 'score': 11.32}, {'connected_gene': 'LOC105378687', 'score': 11.32}, {'connected_gene': 'SZT2', 'score': 11.19}, {'connected_gene': 'SZT2-AS1', 'score': 11.17}, {'connected_gene': 'HYI-AS1', 'score': 11.16}, {'connected_gene': 'HYI', 'score': 11.14}, {'connected_gene': 'PTPRF', 'score': 10.78}, {'connected_gene': 'ENSG00000229431', 'score': 10.58}, {'connected_gene': 'MED8', 'score': 10.58}, {'connected_gene': 'GC01M043435', 'score': 0.34}]
chr1 GH01I043365 43365104 43369332 2.28 [{'connected_gene': 'ELOVL1', 'score': 550.77}, {'connected_gene': 'MED8', 'score': 53.59}, {'connected_gene': 'MPL', 'score': 11.24}, {'connected_gene': 'SZT2', 'score': 10.53}, {'connected_gene': 'HYI', 'score': 5.46}, {'connected_gene': 'MIR6734', 'score': 0.77}]
chr1 GH01I043220 43220348 43222345 0.7 [{'connected_gene': 'FAM183A', 'score': 18.17}, {'connected_gene': 'CFAP57', 'score': 17.42}, {'connected_gene': 'EBNA1BP2', 'score': 12.29}, {'connected_gene': 'SZT2', 'score': 10.94}, {'connected_gene': 'CDC20', 'score': 10.83}, {'connected_gene': 'LOC105378687', 'score': 10.83}, {'connected_gene': 'ELOVL1', 'score': 10.82}, {'connected_gene': 'MED8', 'score': 10.56}, {'connected_gene': 'ENSG00000229431', 'score': 10.56}, {'connected_gene': 'GC01P043207', 'score': 0.37}, {'connected_gene': 'LOC105378685', 'score': 0.31}]
chr1 GH01I043287 43287286 43289961 0.52 [{'connected_gene': 'MPL', 'score': 11.05}, {'connected_gene': 'CDC20', 'score': 10.7}, {'connected_gene': 'LOC105378687', 'score': 10.7}, {'connected_gene': 'ELOVL1', 'score': 10.69}, {'connected_gene': 'ENSG00000229431', 'score': 10.55}, {'connected_gene': 'MED8', 'score': 10.55}, {'connected_gene': 'SZT2', 'score': 10.34}, {'connected_gene': 'CFAP57', 'score': 9.92}, {'connected_gene': 'TMEM125', 'score': 6.29}, {'connected_gene': 'C1orf210', 'score': 0.77}, {'connected_gene': 'GC01P043301', 'score': 0.39}]
chr1 GH01I043383 43381843 43382051 0.63 [{'connected_gene': 'SZT2', 'score': 0.77}, {'connected_gene': 'ELOVL1', 'score': 0.39}]
chr1 GH01I043382 43382150 43382299 0.63 [{'connected_gene': 'SZT2', 'score': 0.77}, {'connected_gene': 'ELOVL1', 'score': 0.39}]
chr1 GH01I043381 43381610 43381759 0.63 [{'connected_gene': 'SZT2', 'score': 0.77}, {'connected_gene': 'ELOVL1', 'score': 0.39}]
chr1 GH01I043283 43283703 43286890 1.66 [{'connected_gene': 'C1orf210', 'score': 558.77}, {'connected_gene': 'CFAP57', 'score': 20.97}, {'connected_gene': 'SZT2', 'score': 16.64}, {'connected_gene': 'MPL', 'score': 11.3}, {'connected_gene': 'ENSG00000229431', 'score': 10.75}, {'connected_gene': 'MED8', 'score': 10.75}, {'connected_gene': 'CDC20', 'score': 10.7}, {'connected_gene': 'LOC105378687', 'score': 10.7}, {'connected_gene': 'ELOVL1', 'score': 10.69}, {'connected_gene': 'TMEM125', 'score': 9.32}, {'connected_gene': 'EBNA1BP2', 'score': 0.39}]
chr1 GH01I043240 43239051 43240118 0.64 [{'connected_gene': 'TMEM125', 'score': 12.1}, {'connected_gene': 'ELOVL1', 'score': 11.86}, {'connected_gene': 'CDC20', 'score': 11.86}, {'connected_gene': 'LOC105378687', 'score': 11.86}, {'connected_gene': 'MPL', 'score': 11.13}, {'connected_gene': 'ENSG00000229431', 'score': 11.12}, {'connected_gene': 'MED8', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 11.07}, {'connected_gene': 'SZT2-AS1', 'score': 11.03}, {'connected_gene': 'HYI', 'score': 11.03}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'C1orf210', 'score': 8.36}, {'connected_gene': 'LOC105378685', 'score': 0.39}, {'connected_gene': 'GC01P043207', 'score': 0.29}, {'connected_gene': 'EBNA1BP2', 'score': 0.29}, {'connected_gene': 'CFAP57', 'score': 0.2}]
chr1 GH01I043239 43238400 43238600 0.8 [{'connected_gene': 'TMEM125', 'score': 12.1}, {'connected_gene': 'ELOVL1', 'score': 11.86}, {'connected_gene': 'CDC20', 'score': 11.86}, {'connected_gene': 'LOC105378687', 'score': 11.86}, {'connected_gene': 'ENSG00000229431', 'score': 11.12}, {'connected_gene': 'MED8', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 11.07}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'HYI', 'score': 11.03}, {'connected_gene': 'SZT2-AS1', 'score': 11.03}, {'connected_gene': 'LOC105378685', 'score': 0.39}, {'connected_gene': 'EBNA1BP2', 'score': 0.29}, {'connected_gene': 'GC01P043207', 'score': 0.29}, {'connected_gene': 'CFAP57', 'score': 0.2}]
chr1 GH01I043321 43321132 43321895 0.73 [{'connected_gene': 'MED8', 'score': 18.31}, {'connected_gene': 'CDC20', 'score': 11.03}, {'connected_gene': 'LOC105378687', 'score': 11.03}, {'connected_gene': 'ELOVL1', 'score': 11.0}, {'connected_gene': 'PTPRF', 'score': 10.59}, {'connected_gene': 'SZT2', 'score': 10.54}, {'connected_gene': 'ENSG00000229431', 'score': 10.13}, {'connected_gene': 'PIR52122', 'score': 0.44}, {'connected_gene': 'TIE1', 'score': 0.34}]
chr1 GH01I043379 43379398 43380783 0.31 [{'connected_gene': 'MED8', 'score': 46.46}, {'connected_gene': 'HYI', 'score': 12.74}, {'connected_gene': 'SZT2', 'score': 0.77}, {'connected_gene': 'ELOVL1', 'score': 0.39}]
chr1 GH01I043290 43290077 43291476 0.31 [{'connected_gene': 'MED8', 'score': 11.13}, {'connected_gene': 'MPL', 'score': 11.01}, {'connected_gene': 'CDC20', 'score': 10.97}, {'connected_gene': 'LOC105378687', 'score': 10.97}, {'connected_gene': 'ELOVL1', 'score': 10.95}, {'connected_gene': 'ENSG00000229431', 'score': 10.56}, {'connected_gene': 'SZT2', 'score': 10.1}, {'connected_gene': 'C1orf210', 'score': 0.77}, {'connected_gene': 'GC01P043301', 'score': 0.44}]
chr1 GH01I043370 43370383 43371378 0.64 [{'connected_gene': 'MED8', 'score': 47.99}, {'connected_gene': 'MPL', 'score': 11.22}, {'connected_gene': 'ELOVL1', 'score': 0.77}, {'connected_gene': 'SZT2', 'score': 0.39}]
chr1 GH01I043371 43371380 43374705 1.35 [{'connected_gene': 'MED8', 'score': 47.98}, {'connected_gene': 'MPL', 'score': 11.2}, {'connected_gene': 'EBNA1BP2', 'score': 10.74}, {'connected_gene': 'CFAP57', 'score': 10.29}, {'connected_gene': 'ELOVL1', 'score': 0.77}, {'connected_gene': 'SZT2', 'score': 0.39}]
chr1 GH01I043376 43376554 43377781 0.31 [{'connected_gene': 'MED8', 'score': 53.72}, {'connected_gene': 'SZT2', 'score': 0.44}, {'connected_gene': 'ELOVL1', 'score': 0.44}]
chr1 GH01I043378 43378362 43378808 0.2 [{'connected_gene': 'MED8', 'score': 43.26}, {'connected_gene': 'SZT2', 'score': 0.44}, {'connected_gene': 'ELOVL1', 'score': 0.39}]
chr1 GH01I043471 43471188 43477944 1.26 [{'connected_gene': 'MED8', 'score': 32.58}, {'connected_gene': 'SZT2', 'score': 21.19}, {'connected_gene': 'PTPRF', 'score': 11.63}, {'connected_gene': 'ELOVL1', 'score': 10.56}, {'connected_gene': 'CDC20', 'score': 10.54}, {'connected_gene': 'LOC105378687', 'score': 10.54}, {'connected_gene': 'MPL', 'score': 10.47}, {'connected_gene': 'ST3GAL3', 'score': 9.9}, {'connected_gene': 'EBNA1BP2', 'score': 9.82}, {'connected_gene': 'CFAP57', 'score': 9.79}, {'connected_gene': 'LOC101929592', 'score': 9.78}, {'connected_gene': 'FAM183A', 'score': 9.49}, {'connected_gene': 'GC01M043427', 'score': 0.77}, {'connected_gene': 'HYI', 'score': 0.37}]
chr1 GH01I043314 43314606 43320128 0.56 [{'connected_gene': 'MED8', 'score': 53.73}, {'connected_gene': 'SZT2', 'score': 15.85}, {'connected_gene': 'MPL', 'score': 11.83}, {'connected_gene': 'EBNA1BP2', 'score': 11.13}, {'connected_gene': 'CDC20', 'score': 11.01}, {'connected_gene': 'LOC105378687', 'score': 11.01}, {'connected_gene': 'ELOVL1', 'score': 10.98}, {'connected_gene': 'PTPRF', 'score': 10.59}, {'connected_gene': 'ENSG00000229431', 'score': 10.12}, {'connected_gene': 'CFAP57', 'score': 9.93}, {'connected_gene': 'PIR52122', 'score': 0.39}, {'connected_gene': 'TIE1', 'score': 0.37}]
chr1 GH01I043404 43404870 43405948 0.91 [{'connected_gene': 'MED8', 'score': 49.82}, {'connected_gene': 'SZT2', 'score': 31.81}, {'connected_gene': 'PPIH', 'score': 22.47}, {'connected_gene': 'HYI', 'score': 16.23}, {'connected_gene': 'P3H1', 'score': 12.69}, {'connected_gene': 'ENSG00000229431', 'score': 11.52}, {'connected_gene': 'ELOVL1', 'score': 11.27}, {'connected_gene': 'CDC20', 'score': 11.24}, {'connected_gene': 'LOC105378687', 'score': 11.24}, {'connected_gene': 'KDM4A-AS1', 'score': 11.18}, {'connected_gene': 'SZT2-AS1', 'score': 11.05}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'DMAP1', 'score': 10.34}, {'connected_gene': 'KDM4A', 'score': 10.07}, {'connected_gene': 'EBNA1BP2', 'score': 9.96}, {'connected_gene': 'CFAP57', 'score': 9.91}, {'connected_gene': 'GC01M043435', 'score': 0.29}]
chr1 GH01I043293 43293181 43296964 1.47 [{'connected_gene': 'MED8', 'score': 38.58}, {'connected_gene': 'EBNA1BP2', 'score': 12.19}, {'connected_gene': 'MPL', 'score': 11.27}, {'connected_gene': 'CDC20', 'score': 11.14}, {'connected_gene': 'LOC105378687', 'score': 11.14}, {'connected_gene': 'ELOVL1', 'score': 11.12}, {'connected_gene': 'ENSG00000229431', 'score': 10.03}, {'connected_gene': 'SZT2', 'score': 10.02}, {'connected_gene': 'FAM183A', 'score': 9.36}, {'connected_gene': 'ATP6V0B', 'score': 7.1}, {'connected_gene': 'TIE1', 'score': 2.01}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'GC01P043301', 'score': 0.44}]
chr1 GH01I043291 43291853 43292559 0.38 [{'connected_gene': 'EBNA1BP2', 'score': 12.19}, {'connected_gene': 'MED8', 'score': 11.13}, {'connected_gene': 'MPL', 'score': 11.01}, {'connected_gene': 'CDC20', 'score': 10.97}, {'connected_gene': 'LOC105378687', 'score': 10.97}, {'connected_gene': 'ELOVL1', 'score': 10.95}, {'connected_gene': 'SZT2', 'score': 9.98}, {'connected_gene': 'ENSG00000229431', 'score': 9.93}, {'connected_gene': 'CFAP57', 'score': 8.79}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'GC01P043301', 'score': 0.44}]
chr1 GH01I043056 43056347 43060214 1.26 [{'connected_gene': 'PPIH', 'score': 20.68}, {'connected_gene': 'SZT2', 'score': 11.93}, {'connected_gene': 'RNU6-880P', 'score': 11.84}, {'connected_gene': 'P3H1', 'score': 11.04}, {'connected_gene': 'ARTN', 'score': 10.11}, {'connected_gene': 'LOC105378683', 'score': 9.91}, {'connected_gene': 'ZNF691', 'score': 9.47}, {'connected_gene': 'ENSG00000228192', 'score': 9.47}, {'connected_gene': 'ELOVL1', 'score': 5.54}, {'connected_gene': 'ENSG00000229431', 'score': 5.26}, {'connected_gene': 'CFAP57', 'score': 4.47}, {'connected_gene': 'SLC2A1-AS1', 'score': 4.13}, {'connected_gene': 'GC01P043056', 'score': 0.77}, {'connected_gene': 'GC01P043068', 'score': 0.44}]
chr1 GH01I043362 43362795 43364393 0.6 [{'connected_gene': 'MIR6734', 'score': 550.77}, {'connected_gene': 'GC01P043360', 'score': 0.77}, {'connected_gene': 'CDC20', 'score': 0.77}, {'connected_gene': 'ELOVL1', 'score': 0.77}]

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