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
ENST00000496856 [[179040778, 179041079], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052402]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052210]]
ENST00000491818 [[179040863, 179041079], [179042829, 179043110], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051401]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051401]]
ENST00000481587 [[179041033, 179041079], [179042737, 179042781], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051164]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051164]]
ENST00000326361 [[179041550, 179041632], [179042829, 179043110], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179053323]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052210]]
ENST00000466264 [[179042940, 179043110], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051617]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051617]]
ENST00000484866 [[179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052400]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052210]]
ENST00000494234 [[179045531, 179045694], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051142]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179051142]]
ENST00000483460 [[179045905, 179046139], [179047405, 179047516], [179050776, 179050911]] None
ENST00000466663 [[179047421, 179047516], [179047721, 179047843], [179050776, 179050911], [179051056, 179051518]] None
NM_001303426 [[179040778, 179041079], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179053323]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052210]]
NM_001303425 [[179040778, 179041079], [179042737, 179042781], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179053323]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052210]]
NM_016331 [[179041550, 179041632], [179042829, 179043110], [179045348, 179045419], [179046070, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179053323]] [[179046081, 179046139], [179047405, 179047516], [179050776, 179050911], [179051056, 179052210]]
Promoter
Chrom Start End Description
chr3 179040643 179040740 CAGE_peak_2_at_ZNF639_5end
chr3 179040767 179040866 CAGE_peak_1_at_ZNF639_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I179016 179016761 179018021 0.49 [{'connected_gene': 'ZMAT3', 'score': 11.75}, {'connected_gene': 'ZNF639', 'score': 11.68}, {'connected_gene': 'LOC101928739', 'score': 11.42}, {'connected_gene': 'PIK3CA', 'score': 11.42}, {'connected_gene': 'GC03M179018', 'score': 0.77}, {'connected_gene': 'KCNMB2-AS1', 'score': 0.1}]
chr3 GH03I179026 179026561 179028159 0.78 [{'connected_gene': 'ZMAT3', 'score': 11.8}, {'connected_gene': 'ZNF639', 'score': 10.65}, {'connected_gene': 'LOC101928739', 'score': 10.53}, {'connected_gene': 'PIK3CA', 'score': 10.53}, {'connected_gene': 'GC03M179018', 'score': 0.44}]
chr3 GH03I179068 179068806 179072628 2.27 [{'connected_gene': 'ZMAT3', 'score': 562.5}, {'connected_gene': 'LOC101928739', 'score': 11.02}, {'connected_gene': 'PIK3CA', 'score': 11.02}, {'connected_gene': 'ZNF639', 'score': 10.79}, {'connected_gene': 'GC03M179018', 'score': 0.23}]
chr3 GH03I179346 179346345 179349751 2.03 [{'connected_gene': 'MFN1', 'score': 577.82}, {'connected_gene': 'ZNF639', 'score': 18.72}, {'connected_gene': 'ENSG00000242539', 'score': 11.84}]
chr3 GH03I179175 179175818 179175877 0.5 [{'connected_gene': 'PIK3CA', 'score': 561.54}, {'connected_gene': 'LOC101928739', 'score': 11.54}, {'connected_gene': 'ZNF639', 'score': 10.38}, {'connected_gene': 'ENSG00000201957', 'score': 0.44}, {'connected_gene': 'GC03P179235', 'score': 0.22}]
chr3 GH03I179321 179321381 179325640 2.03 [{'connected_gene': 'ZNF639', 'score': 567.47}, {'connected_gene': 'MFN1', 'score': 45.29}, {'connected_gene': 'ENSG00000242539', 'score': 12.25}, {'connected_gene': 'LOC101928739', 'score': 10.5}, {'connected_gene': 'PIK3CA', 'score': 10.5}, {'connected_gene': 'ENSG00000260743', 'score': 0.37}]
chr3 GH03I179015 179015307 179016000 1.01 [{'connected_gene': 'ZNF639', 'score': 11.0}, {'connected_gene': 'GC03M179018', 'score': 0.77}, {'connected_gene': 'KCNMB2-AS1', 'score': 0.1}]
chr3 GH03I179064 179064033 179064182 0.71 [{'connected_gene': 'ZNF639', 'score': 10.87}, {'connected_gene': 'LOC101928739', 'score': 10.6}, {'connected_gene': 'PIK3CA', 'score': 10.6}, {'connected_gene': 'ZMAT3', 'score': 0.44}, {'connected_gene': 'GC03M179018', 'score': 0.26}]
chr3 GH03I179093 179093069 179094540 0.38 [{'connected_gene': 'ZNF639', 'score': 15.85}, {'connected_gene': 'LOC101928739', 'score': 11.19}, {'connected_gene': 'PIK3CA', 'score': 11.19}, {'connected_gene': 'KCNMB3', 'score': 4.6}, {'connected_gene': 'GC03P179098', 'score': 0.77}, {'connected_gene': 'ZMAT3', 'score': 0.34}]
chr3 GH03I179107 179107714 179108822 0.31 [{'connected_gene': 'ZNF639', 'score': 11.33}, {'connected_gene': 'LOC101928739', 'score': 11.1}, {'connected_gene': 'PIK3CA', 'score': 11.1}, {'connected_gene': 'KCNMB3', 'score': 4.69}, {'connected_gene': 'ENSG00000200616', 'score': 0.39}]
chr3 GH03I179315 179315886 179316600 0.97 [{'connected_gene': 'ZNF639', 'score': 14.87}, {'connected_gene': 'LOC101928739', 'score': 11.1}, {'connected_gene': 'PIK3CA', 'score': 11.1}, {'connected_gene': 'KCNMB3', 'score': 0.25}]
chr3 GH03I179331 179331833 179331931 0.22 [{'connected_gene': 'ZNF639', 'score': 0.44}, {'connected_gene': 'ENSG00000260743', 'score': 0.44}]
chr3 GH03I179463 179463774 179465125 1.1 [{'connected_gene': 'MTHFD2P7', 'score': 550.77}, {'connected_gene': 'ZNF639', 'score': 9.81}, {'connected_gene': 'PIR62273', 'score': 0.34}]
chr3 GH03I179259 179259240 179259299 0.82 [{'connected_gene': 'KCNMB3', 'score': 550.44}, {'connected_gene': 'ZNF639', 'score': 11.33}, {'connected_gene': 'LRRFIP1P1', 'score': 0.77}, {'connected_gene': 'GC03P179238', 'score': 0.34}]
chr3 GH03I179146 179146724 179150329 2.07 [{'connected_gene': 'LOC101928739', 'score': 550.77}, {'connected_gene': 'PIK3CA', 'score': 550.77}, {'connected_gene': 'ENSG00000242539', 'score': 4.2}, {'connected_gene': 'ZNF639', 'score': 4.15}, {'connected_gene': 'ENSG00000201957', 'score': 0.34}]
chr3 GH03I179260 179260560 179262124 1.75 [{'connected_gene': 'LRRFIP1P1', 'score': 550.77}, {'connected_gene': 'ZNF639', 'score': 11.33}, {'connected_gene': 'GNB4', 'score': 1.69}, {'connected_gene': 'MFN1', 'score': 1.6}, {'connected_gene': 'PIK3CA', 'score': 1.39}, {'connected_gene': 'KCNMB3', 'score': 0.44}, {'connected_gene': 'GC03P179238', 'score': 0.34}]
chr3 GH03I179020 179020601 179020800 0.51 [{'connected_gene': 'GC03M179018', 'score': 550.77}, {'connected_gene': 'ZMAT3', 'score': 11.75}, {'connected_gene': 'ZNF639', 'score': 11.68}, {'connected_gene': 'LOC101928739', 'score': 11.43}, {'connected_gene': 'PIK3CA', 'score': 11.43}]
chr3 GH03I179098 179098400 179098971 0.67 [{'connected_gene': 'ENSG00000200616', 'score': 550.77}, {'connected_gene': 'GC03P179098', 'score': 550.77}, {'connected_gene': 'ZMAT3', 'score': 12.32}, {'connected_gene': 'LOC101928739', 'score': 10.86}, {'connected_gene': 'PIK3CA', 'score': 10.86}, {'connected_gene': 'ZNF639', 'score': 10.77}]