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
ENST00000461557 [[43637280, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638099], [43638390, 43638534], [43677120, 43677168], [43680987, 43681064], [43727512, 43727589], [43736576, 43736607]] None
ENST00000431635 [[43629845, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638241]] [[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638092]]
ENST00000236051 [[43629854, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637931]] [[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637789]]
ENST00000463906 [[43630016, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636792]] None
ENST00000491223 [[43636488, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638222]] None
ENST00000472982 [[43636614, 43637322], [43637556, 43637640], [43637723, 43637939]] None
ENST00000483082 [[43637111, 43637640], [43637723, 43637953]] None
ENST00000466927 [[43647352, 43647455], [43680936, 43681064], [43727512, 43727581]] None
ENST00000474566 [[43660354, 43660620], [43672016, 43672063], [43677120, 43677238], [43680936, 43681064], [43715889, 43716062]] None
NM_006824 [[43629844, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637986]] [[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637789]]
NM_001159936 [[43629844, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638241]] [[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638092]]
Promoter
Chrom Start End Description
chr1 43637641 43637648 CAGE_peak_16_at_EBNA1BP2_5end
chr1 43637810 43637821 CAGE_peak_10_at_EBNA1BP2_5end
chr1 43637850 43637863 CAGE_peak_4_at_EBNA1BP2_5end
chr1 43637915 43637998 CAGE_peak_1_at_EBNA1BP2_5end
chr1 43638168 43638198 CAGE_peak_3_at_EBNA1BP2_5end
chr1 43716058 43716065 CAGE_peak_17_at_EBNA1BP2_5end
chr1 43736610 43736636 CAGE_peak_6_at_EBNA1BP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I043137 43137288 43138365 0.2 [{'connected_gene': 'FAM183A', 'score': 25.92}, {'connected_gene': 'CFAP57', 'score': 10.99}, {'connected_gene': 'EBNA1BP2', 'score': 10.82}, {'connected_gene': 'ZNF691', 'score': 8.85}, {'connected_gene': 'ENSG00000228192', 'score': 8.85}, {'connected_gene': 'ENSG00000277513', 'score': 0.29}]
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 GH01I043147 43147401 43148400 1.54 [{'connected_gene': 'FAM183A', 'score': 558.92}, {'connected_gene': 'CFAP57', 'score': 17.68}, {'connected_gene': 'EBNA1BP2', 'score': 11.37}, {'connected_gene': 'GC01P043162', 'score': 0.37}]
chr1 GH01I043120 43120306 43122252 1.14 [{'connected_gene': 'FAM183A', 'score': 24.83}, {'connected_gene': 'CFAP57', 'score': 11.09}, {'connected_gene': 'EBNA1BP2', 'score': 10.97}, {'connected_gene': 'ENSG00000277513', 'score': 0.37}]
chr1 GH01I043143 43143510 43144339 0.83 [{'connected_gene': 'FAM183A', 'score': 550.77}, {'connected_gene': 'CFAP57', 'score': 6.81}, {'connected_gene': 'EBNA1BP2', 'score': 5.94}, {'connected_gene': 'GC01P043162', 'score': 0.37}]
chr1 GH01I043072 43072628 43074001 1.11 [{'connected_gene': 'FAM183A', 'score': 16.71}, {'connected_gene': 'RNU6-880P', 'score': 10.66}, {'connected_gene': 'CFAP57', 'score': 10.22}, {'connected_gene': 'ZNF691', 'score': 10.19}, {'connected_gene': 'ENSG00000228192', 'score': 10.19}, {'connected_gene': 'EBNA1BP2', 'score': 10.15}, {'connected_gene': 'RNU6-536P', 'score': 10.0}, {'connected_gene': 'ENSG00000236180', 'score': 10.0}, {'connected_gene': 'SZT2', 'score': 9.72}, {'connected_gene': 'GC01P043068', 'score': 0.44}, {'connected_gene': 'ENSG00000277513', 'score': 0.29}]
chr1 GH01I042971 42971544 42972737 0.92 [{'connected_gene': 'SLC2A1-AS1', 'score': 43.21}, {'connected_gene': 'CFAP57', 'score': 9.68}, {'connected_gene': 'EBNA1BP2', 'score': 9.66}, {'connected_gene': 'ENSG00000283973', 'score': 0.39}, {'connected_gene': 'RNU6-880P', 'score': 0.37}]
chr1 GH01I043281 43281708 43283505 0.86 [{'connected_gene': 'MPL', 'score': 11.3}, {'connected_gene': 'ENSG00000229431', 'score': 10.75}, {'connected_gene': 'MED8', 'score': 10.74}, {'connected_gene': 'SZT2', 'score': 10.38}, {'connected_gene': 'C1orf210', 'score': 7.84}, {'connected_gene': 'CFAP57', 'score': 7.22}, {'connected_gene': 'CCDC24', 'score': 4.98}, {'connected_gene': 'EBNA1BP2', '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 GH01I043279 43279037 43279984 0.2 [{'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'EBNA1BP2', 'score': 0.44}]
chr1 GH01I043266 43266883 43268495 0.66 [{'connected_gene': 'CFAP57', 'score': 14.21}, {'connected_gene': 'TIE1', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 9.52}, {'connected_gene': 'TMEM125', 'score': 0.77}, {'connected_gene': 'EBNA1BP2', 'score': 0.77}, {'connected_gene': 'LOC105378685', 'score': 0.37}]
chr1 GH01I043229 43229527 43230693 0.38 [{'connected_gene': 'CFAP57', 'score': 22.97}, {'connected_gene': 'ATP6V0B', 'score': 4.3}, {'connected_gene': 'LOC105378685', 'score': 0.34}, {'connected_gene': 'GC01P043207', 'score': 0.34}, {'connected_gene': 'EBNA1BP2', 'score': 0.26}]
chr1 GH01I043231 43231795 43233239 0.76 [{'connected_gene': 'CFAP57', 'score': 57.84}, {'connected_gene': 'FAM183A', 'score': 7.19}, {'connected_gene': 'ATP6V0B', 'score': 5.31}, {'connected_gene': 'LOC105378685', 'score': 0.37}, {'connected_gene': 'GC01P043207', 'score': 0.31}, {'connected_gene': 'EBNA1BP2', 'score': 0.28}]
chr1 GH01I043227 43227201 43227601 1 [{'connected_gene': 'CFAP57', 'score': 11.27}, {'connected_gene': 'FAM183A', 'score': 4.3}, {'connected_gene': 'LOC105378685', 'score': 0.34}, {'connected_gene': 'GC01P043207', 'score': 0.34}, {'connected_gene': 'EBNA1BP2', 'score': 0.26}]
chr1 GH01I043198 43198734 43200295 0.76 [{'connected_gene': 'CFAP57', 'score': 7.05}, {'connected_gene': 'DPH2', 'score': 4.44}, {'connected_gene': 'RNA5SP46', 'score': 0.77}, {'connected_gene': 'GC01P043207', 'score': 0.44}, {'connected_gene': 'LOC105378685', 'score': 0.23}, {'connected_gene': 'EBNA1BP2', 'score': 0.19}]
chr1 GH01I043255 43255853 43257820 0.63 [{'connected_gene': 'CFAP57', 'score': 11.01}, {'connected_gene': 'C1orf210', 'score': 8.53}, {'connected_gene': 'LOC101929592', 'score': 4.28}, {'connected_gene': 'LOC105378685', 'score': 0.44}, {'connected_gene': 'TMEM125', 'score': 0.39}, {'connected_gene': 'EBNA1BP2', 'score': 0.39}]
chr1 GH01I043273 43273656 43275115 1.12 [{'connected_gene': 'CFAP57', 'score': 10.74}, {'connected_gene': 'TMEM125', 'score': 0.77}, {'connected_gene': 'EBNA1BP2', 'score': 0.77}, {'connected_gene': 'C1orf210', 'score': 0.39}]
chr1 GH01I043171 43171200 43173000 2.02 [{'connected_gene': 'CFAP57', 'score': 558.65}, {'connected_gene': 'MIR6733', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.15}, {'connected_gene': 'FAM183A', 'score': 10.74}]
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 GH01I043272 43272227 43272286 0.81 [{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'C1orf210', 'score': 0.39}]
chr1 GH01I043270 43269642 43271715 1.94 [{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'CFAP57', 'score': 10.92}, {'connected_gene': 'C1orf210', 'score': 8.05}, {'connected_gene': 'KDM4A-AS1', 'score': 6.1}]
chr1 GH01I043269 43269115 43269405 0.31 [{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'LOC105378685', 'score': 0.37}]
chr1 GH01I043276 43276305 43277603 0.91 [{'connected_gene': 'TMEM125', 'score': 9.82}, {'connected_gene': 'LOC101929592', 'score': 4.83}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'EBNA1BP2', 'score': 0.44}]
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 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 GH01I043152 43152488 43153406 0.52 [{'connected_gene': 'EBNA1BP2', 'score': 17.89}, {'connected_gene': 'ENSG00000229431', 'score': 9.49}, {'connected_gene': 'MED8', 'score': 9.48}, {'connected_gene': 'FAM183A', 'score': 6.0}, {'connected_gene': 'GC01P043162', '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 GH01I043253 43253841 43254673 0.31 [{'connected_gene': 'LOC105378685', 'score': 0.77}, {'connected_gene': 'TMEM125', 'score': 0.37}, {'connected_gene': 'EBNA1BP2', 'score': 0.37}, {'connected_gene': 'CFAP57', 'score': 0.18}]
chr1 GH01I043238 43238170 43238319 0.83 [{'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 GH01I043200 43200749 43200772 0.34 [{'connected_gene': 'RNA5SP46', 'score': 0.77}, {'connected_gene': 'GC01P043207', 'score': 0.44}, {'connected_gene': 'CFAP57', 'score': 0.31}, {'connected_gene': 'LOC105378685', 'score': 0.25}, {'connected_gene': 'EBNA1BP2', 'score': 0.19}]
chr1 GH01I043204 43204107 43208221 1.32 [{'connected_gene': 'GC01P043207', 'score': 550.77}, {'connected_gene': 'CFAP57', 'score': 11.38}, {'connected_gene': 'FAM183A', 'score': 8.4}, {'connected_gene': 'RNA5SP46', 'score': 0.44}, {'connected_gene': 'LOC105378685', 'score': 0.26}, {'connected_gene': 'EBNA1BP2', 'score': 0.21}]