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
ENST00000368851 [[111408780, 111409298], [111493897, 111494042], [111498414, 111498868], [111527794, 111527938], [111540016, 111540245], [111543205, 111544223]] [[111408955, 111409298], [111493897, 111494042], [111498414, 111498868], [111527794, 111527938], [111540016, 111540245], [111543205, 111543438]]
ENST00000368850 [[111498414, 111498868], [111514495, 111514527], [111527794, 111527938], [111540016, 111540245], [111543205, 111552397]] [[111527794, 111527938], [111540016, 111540245], [111543205, 111543438]]
ENST00000465319 [[111493897, 111494042], [111494640, 111494728], [111498414, 111498915]] None
ENST00000439288 [[111493897, 111494042], [111498414, 111498915]] [[111493897, 111494042], [111498414, 111498889]]
ENST00000419619 [[111493897, 111494042], [111498414, 111498868], [111499604, 111499914]] [[111493897, 111494042], [111498414, 111498868], [111499604, 111499640]]
NM_018593 [[111408780, 111409298], [111493897, 111494042], [111498414, 111498868], [111527794, 111527938], [111540016, 111540245], [111543205, 111544608]] [[111408955, 111409298], [111493897, 111494042], [111498414, 111498868], [111527794, 111527938], [111540016, 111540245], [111543205, 111543438]]
Promoter
Chrom Start End Description
chr6 111408668 111408686 CAGE_peak_2_at_SLC16A10_5end
chr6 111408698 111408714 CAGE_peak_1_at_SLC16A10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I111426 111426470 111428347 1.17 [{'connected_gene': 'MFSD4B', 'score': 9.15}, {'connected_gene': 'SLC16A10', 'score': 8.15}, {'connected_gene': 'TRAF3IP2', 'score': 8.08}, {'connected_gene': 'REV3L', 'score': 8.04}, {'connected_gene': 'BRD7P4', 'score': 0.77}, {'connected_gene': 'REV3L-IT1', 'score': 0.2}]
chr6 GH06I111227 111227796 111229398 0.84 [{'connected_gene': 'MFSD4B', 'score': 20.63}, {'connected_gene': 'ENSG00000231046', 'score': 12.22}, {'connected_gene': 'SLC16A10', 'score': 11.36}, {'connected_gene': 'RNU6-960P', 'score': 10.57}, {'connected_gene': 'CNN2P9', 'score': 10.14}]
chr6 GH06I111175 111175854 111177900 0.6 [{'connected_gene': 'MFSD4B', 'score': 10.01}, {'connected_gene': 'ENSG00000231046', 'score': 0.18}, {'connected_gene': 'SLC16A10', 'score': 0.17}, {'connected_gene': 'RNU6-960P', 'score': 0.17}]
chr6 GH06I111229 111229478 111229627 0.52 [{'connected_gene': 'MFSD4B', 'score': 12.24}, {'connected_gene': 'ENSG00000231046', 'score': 12.24}, {'connected_gene': 'RNU6-960P', 'score': 10.57}, {'connected_gene': 'CNN2P9', 'score': 10.14}, {'connected_gene': 'SLC16A10', 'score': 0.11}]
chr6 GH06I111230 111229631 111231147 0.92 [{'connected_gene': 'MFSD4B', 'score': 22.94}, {'connected_gene': 'ENSG00000231046', 'score': 12.65}, {'connected_gene': 'RNU6-960P', 'score': 10.57}, {'connected_gene': 'CNN2P9', 'score': 10.14}, {'connected_gene': 'ENSG00000255389', 'score': 4.53}, {'connected_gene': 'SLC16A10', 'score': 0.11}]
chr6 GH06I110944 110944238 110945599 1.34 [{'connected_gene': 'RPF2', 'score': 20.17}, {'connected_gene': 'CDK19', 'score': 11.33}, {'connected_gene': 'AMD1', 'score': 4.13}, {'connected_gene': 'SLC16A10', 'score': 3.37}, {'connected_gene': 'GTF3C6', 'score': 0.39}, {'connected_gene': 'LOC442244', 'score': 0.34}]
chr6 GH06I111122 111122323 111124186 0.9 [{'connected_gene': 'TRAF3IP2-AS1', 'score': 10.93}, {'connected_gene': 'MFSD4B', 'score': 7.35}, {'connected_gene': 'RNU6-960P', 'score': 0.29}, {'connected_gene': 'SLC16A10', 'score': 0.28}, {'connected_gene': 'ENSG00000231046', 'score': 0.12}]
chr6 GH06I111405 111405738 111407722 1.29 [{'connected_gene': 'REV3L', 'score': 14.52}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 11.19}, {'connected_gene': 'ENSG00000230177', 'score': 10.99}, {'connected_gene': 'SLC16A10', 'score': 10.64}, {'connected_gene': 'ENSG00000255389', 'score': 10.42}, {'connected_gene': 'TRAF3IP2', 'score': 8.83}, {'connected_gene': 'MFSD4B', 'score': 4.18}, {'connected_gene': 'BRD7P4', 'score': 0.34}, {'connected_gene': 'REV3L-IT1', 'score': 0.25}]
chr6 GH06I111418 111418097 111418411 0.24 [{'connected_gene': 'REV3L', 'score': 3.82}, {'connected_gene': 'SLC16A10', 'score': 3.81}, {'connected_gene': 'TRAF3IP2', 'score': 2.02}, {'connected_gene': 'BRD7P4', 'score': 0.39}, {'connected_gene': 'REV3L-IT1', 'score': 0.22}]
chr6 GH06I110859 110859001 110860200 1.19 [{'connected_gene': 'CNN2P9', 'score': 550.77}, {'connected_gene': 'CDK19', 'score': 10.6}, {'connected_gene': 'AMD1', 'score': 5.77}, {'connected_gene': 'SLC16A10', 'score': 2.47}, {'connected_gene': 'ENSG00000271607', 'score': 0.77}]
chr6 GH06I110873 110873253 110879857 2.58 [{'connected_gene': 'AMD1', 'score': 558.54}, {'connected_gene': 'MFSD4B', 'score': 41.23}, {'connected_gene': 'ENSG00000220506', 'score': 31.34}, {'connected_gene': 'BRD7P4', 'score': 19.45}, {'connected_gene': 'RPF2', 'score': 19.14}, {'connected_gene': 'CDK19', 'score': 19.02}, {'connected_gene': 'CNN2P9', 'score': 18.83}, {'connected_gene': 'FCF1P5', 'score': 18.46}, {'connected_gene': 'GTF3C6', 'score': 11.48}, {'connected_gene': 'RNU6-957P', 'score': 11.06}, {'connected_gene': 'ENSG00000272356', 'score': 10.09}, {'connected_gene': 'CDC40', 'score': 9.86}, {'connected_gene': 'SLC16A10', 'score': 7.15}, {'connected_gene': 'ENSG00000271607', 'score': 0.39}, {'connected_gene': 'GC06P110895', 'score': 0.37}]
chr6 GH06I111113 111113260 111114698 1.19 [{'connected_gene': 'SLC16A10', 'score': 17.07}, {'connected_gene': 'MFSD4B', 'score': 12.45}, {'connected_gene': 'AMD1', 'score': 5.75}, {'connected_gene': 'REV3L', 'score': 2.76}, {'connected_gene': 'TRAF3IP2', 'score': 2.33}, {'connected_gene': 'RNU6-960P', 'score': 0.34}, {'connected_gene': 'ENSG00000231046', 'score': 0.11}]
chr6 GH06I111086 111086838 111089041 2.19 [{'connected_gene': 'SLC16A10', 'score': 560.39}, {'connected_gene': 'MFSD4B', 'score': 9.28}, {'connected_gene': 'AMD1', 'score': 2.95}, {'connected_gene': 'REV3L', 'score': 1.93}, {'connected_gene': 'GC06M111092', 'score': 0.77}]
chr6 GH06I111239 111239157 111239743 0.94 [{'connected_gene': 'SLC16A10', 'score': 18.48}, {'connected_gene': 'REV3L', 'score': 13.67}, {'connected_gene': 'MFSD4B', 'score': 10.27}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 10.25}, {'connected_gene': 'AMD1', 'score': 3.94}, {'connected_gene': 'TRAF3IP2', 'score': 2.49}, {'connected_gene': 'ENSG00000231046', 'score': 0.37}, {'connected_gene': 'RNU6-960P', 'score': 0.11}]
chr6 GH06I111238 111238400 111238801 1.03 [{'connected_gene': 'SLC16A10', 'score': 17.23}, {'connected_gene': 'REV3L', 'score': 11.96}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 10.25}, {'connected_gene': 'ENSG00000230177', 'score': 4.42}, {'connected_gene': 'AMD1', 'score': 4.19}, {'connected_gene': 'TRAF3IP2', 'score': 1.48}, {'connected_gene': 'ENSG00000231046', 'score': 0.34}, {'connected_gene': 'RNU6-960P', 'score': 0.11}]
chr6 GH06I111423 111423277 111423391 0.66 [{'connected_gene': 'SLC16A10', 'score': 11.03}, {'connected_gene': 'REV3L', 'score': 2.57}, {'connected_gene': 'TRAF3IP2', 'score': 1.79}, {'connected_gene': 'BRD7P4', 'score': 0.44}, {'connected_gene': 'REV3L-IT1', 'score': 0.21}]
chr6 GH06I111030 111030001 111030401 0.64 [{'connected_gene': 'SLC16A10', 'score': 11.46}, {'connected_gene': 'GC06P111026', 'score': 0.77}, {'connected_gene': 'GSTM2P1', 'score': 0.37}]
chr6 GH06I111075 111075863 111076800 0.42 [{'connected_gene': 'SLC16A10', 'score': 10.97}, {'connected_gene': 'AMD1', 'score': 3.23}, {'connected_gene': 'REV3L', 'score': 2.08}, {'connected_gene': 'GSTM2P1', 'score': 0.31}]
chr6 GH06I111119 111119962 111120335 0.61 [{'connected_gene': 'SLC16A10', 'score': 16.48}, {'connected_gene': 'AMD1', 'score': 5.47}, {'connected_gene': 'REV3L', 'score': 2.58}, {'connected_gene': 'TRAF3IP2', 'score': 2.15}, {'connected_gene': 'RNU6-960P', 'score': 0.31}, {'connected_gene': 'ENSG00000231046', 'score': 0.12}]
chr6 GH06I110934 110934042 110934360 0.48 [{'connected_gene': 'SLC16A10', 'score': 2.84}, {'connected_gene': 'AMD1', 'score': 2.69}, {'connected_gene': 'LOC442244', 'score': 0.39}, {'connected_gene': 'GTF3C6', 'score': 0.34}]
chr6 GH06I111189 111189189 111190396 0.38 [{'connected_gene': 'SLC16A10', 'score': 13.05}, {'connected_gene': 'RNU6-960P', 'score': 12.53}, {'connected_gene': 'MFSD4B', 'score': 12.24}, {'connected_gene': 'ENSG00000231046', 'score': 0.2}]
chr6 GH06I111061 111061522 111061775 0.66 [{'connected_gene': 'SLC16A10', 'score': 17.29}, {'connected_gene': 'RNU6-960P', 'score': 11.98}, {'connected_gene': 'FYN', 'score': 4.68}, {'connected_gene': 'AMD1', 'score': 2.46}, {'connected_gene': 'REV3L', 'score': 1.46}, {'connected_gene': 'GSTM2P1', 'score': 0.39}]
chr6 GH06I111133 111133571 111135624 0.2 [{'connected_gene': 'SLC16A10', 'score': 17.36}, {'connected_gene': 'RNU6-960P', 'score': 11.35}, {'connected_gene': 'ENSG00000255389', 'score': 4.21}, {'connected_gene': 'ENSG00000231046', 'score': 0.13}]
chr6 GH06I111096 111096358 111096507 0.49 [{'connected_gene': 'SLC16A10', 'score': 0.44}, {'connected_gene': 'RNU6-960P', 'score': 0.44}, {'connected_gene': 'ENSG00000231046', 'score': 0.1}]
chr6 GH06I111210 111210378 111210527 0.59 [{'connected_gene': 'SLC16A10', 'score': 11.7}, {'connected_gene': 'ENSG00000231046', 'score': 0.25}, {'connected_gene': 'RNU6-960P', 'score': 0.13}]
chr6 GH06I110957 110957781 110959801 2.1 [{'connected_gene': 'GTF3C6', 'score': 555.04}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 18.12}, {'connected_gene': 'METTL24', 'score': 13.62}, {'connected_gene': 'ENSG00000220506', 'score': 13.16}, {'connected_gene': 'MFSD4B', 'score': 12.85}, {'connected_gene': 'ENSG00000255389', 'score': 11.87}, {'connected_gene': 'ENSG00000272356', 'score': 10.18}, {'connected_gene': 'FCF1P5', 'score': 10.15}, {'connected_gene': 'RPF2', 'score': 9.58}, {'connected_gene': 'SLC16A10', 'score': 6.45}]
chr6 GH06I110617 110617138 110617495 1.08 [{'connected_gene': 'GTF3C6', 'score': 10.5}, {'connected_gene': 'SLC16A10', 'score': 8.88}, {'connected_gene': 'AMD1', 'score': 3.06}, {'connected_gene': 'LOC100420531', 'score': 0.37}, {'connected_gene': 'LOC100129155', 'score': 0.31}, {'connected_gene': 'CDK19', 'score': 0.08}]
chr6 GH06I111289 111289781 111292676 1.15 [{'connected_gene': 'TRAF3IP2', 'score': 12.05}, {'connected_gene': 'ENSG00000230177', 'score': 9.37}, {'connected_gene': 'REV3L', 'score': 7.42}, {'connected_gene': 'ENSG00000255389', 'score': 6.87}, {'connected_gene': 'MFSD4B', 'score': 5.73}, {'connected_gene': 'AMD1', 'score': 1.77}, {'connected_gene': 'SLC16A10', 'score': 1.21}, {'connected_gene': 'GC06P111298', 'score': 0.77}, {'connected_gene': 'PIR46198', 'score': 0.77}, {'connected_gene': 'PIR44403', 'score': 0.39}]
chr6 GH06I111200 111200038 111201548 0.52 [{'connected_gene': 'RNU6-960P', 'score': 12.14}, {'connected_gene': 'SLC16A10', 'score': 11.87}, {'connected_gene': 'ENSG00000231046', 'score': 0.22}]
chr6 GH06I111131 111131903 111133261 0.2 [{'connected_gene': 'RNU6-960P', 'score': 11.35}, {'connected_gene': 'SLC16A10', 'score': 11.13}, {'connected_gene': 'ENSG00000231046', 'score': 0.13}]
chr6 GH06I111129 111129116 111129289 0.56 [{'connected_gene': 'RNU6-960P', 'score': 11.36}, {'connected_gene': 'SLC16A10', 'score': 11.15}, {'connected_gene': 'ENSG00000231046', 'score': 0.13}]
chr6 GH06I111105 111105202 111106303 1.14 [{'connected_gene': 'ENSG00000255389', 'score': 7.76}, {'connected_gene': 'RNU6-960P', 'score': 0.39}, {'connected_gene': 'SLC16A10', 'score': 0.37}, {'connected_gene': 'ENSG00000231046', 'score': 0.1}]