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
ENST00000321037 [[46097729, 46097926], [46107287, 46108146], [46108788, 46108959], [46111012, 46114436]] [[46107320, 46108146], [46108788, 46108959], [46111012, 46111377]]
NM_014936 [[46097700, 46097926], [46107287, 46108146], [46108788, 46108959], [46111012, 46114436]] [[46107320, 46108146], [46108788, 46108959], [46111012, 46111377]]
Promoter
Chrom Start End Description
chr6 46097695 46097708 CAGE_peak_4_at_ENPP4_5end
chr6 46097711 46097736 CAGE_peak_3_at_ENPP4_5end
chr6 46097776 46097804 CAGE_peak_1_at_ENPP4_5end
chr6 46097805 46097860 CAGE_peak_2_at_ENPP4_5end
chr6 46097868 46097877 CAGE_peak_6_at_ENPP4_5end
chr6 46097883 46097907 CAGE_peak_5_at_ENPP4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I046291 46291432 46291655 0.42 [{'connected_gene': 'SLC25A27', 'score': 3.03}, {'connected_gene': 'ENPP4', 'score': 2.28}, {'connected_gene': 'LOC101926915', 'score': 0.37}, {'connected_gene': 'RPL36P10', 'score': 0.11}, {'connected_gene': 'RCAN2', 'score': 0.08}]
chr6 GH06I046191 46191784 46192386 0.2 [{'connected_gene': 'ENPP5', 'score': 11.61}, {'connected_gene': 'ENSG00000231769', 'score': 10.5}, {'connected_gene': 'ENPP4', 'score': 10.5}, {'connected_gene': 'ACTG1P9', 'score': 0.39}]
chr6 GH06I046190 46190970 46191333 0.33 [{'connected_gene': 'ENPP5', 'score': 20.78}, {'connected_gene': 'ENSG00000231769', 'score': 10.5}, {'connected_gene': 'ENPP4', 'score': 10.5}, {'connected_gene': 'CLIC5', 'score': 9.87}, {'connected_gene': 'ACTG1P9', 'score': 0.39}]
chr6 GH06I046170 46170201 46171751 1.87 [{'connected_gene': 'ENPP5', 'score': 550.77}, {'connected_gene': 'ENPP4', 'score': 20.76}, {'connected_gene': 'ENSG00000231769', 'score': 10.51}]
chr6 GH06I046010 46010277 46016001 2.27 [{'connected_gene': 'CLIC5', 'score': 570.47}, {'connected_gene': 'ENPP4', 'score': 13.69}, {'connected_gene': 'ENSG00000231769', 'score': 9.63}, {'connected_gene': 'RNU6-754P', 'score': 0.44}, {'connected_gene': 'GC06M045521', 'score': 0.22}]
chr6 GH06I046077 46077257 46081203 1.13 [{'connected_gene': 'CLIC5', 'score': 550.77}, {'connected_gene': 'ENPP4', 'score': 20.48}, {'connected_gene': 'ENSG00000231769', 'score': 20.06}, {'connected_gene': 'RNU6-754P', 'score': 0.21}]
chr6 GH06I046184 46184200 46184401 0.51 [{'connected_gene': 'ENPP4', 'score': 16.43}, {'connected_gene': 'ENSG00000231769', 'score': 10.74}, {'connected_gene': 'ENPP5', 'score': 7.69}, {'connected_gene': 'ACTG1P9', 'score': 0.34}]
chr6 GH06I046174 46174568 46176490 0.6 [{'connected_gene': 'ENPP4', 'score': 32.91}, {'connected_gene': 'RNU6-754P', 'score': 9.76}, {'connected_gene': 'ENSG00000231769', 'score': 5.57}, {'connected_gene': 'ENPP5', 'score': 0.77}, {'connected_gene': 'ACTG1P9', 'score': 0.31}]
chr6 GH06I045958 45958666 45959297 0.2 [{'connected_gene': 'ENPP4', 'score': 5.62}, {'connected_gene': 'GC06M045521', 'score': 0.77}, {'connected_gene': 'RNU6-754P', 'score': 0.22}, {'connected_gene': 'CLIC5', 'score': 0.13}]
chr6 GH06I046217 46217716 46218001 1.13 [{'connected_gene': 'ENPP4', 'score': 7.92}, {'connected_gene': 'LOC105375079', 'score': 0.77}, {'connected_gene': 'LOC101926915', 'score': 0.22}]
chr6 GH06I046393 46393496 46394386 0.59 [{'connected_gene': 'ENPP4', 'score': 5.37}, {'connected_gene': 'RPL36P10', 'score': 0.26}, {'connected_gene': 'RCAN2', 'score': 0.15}, {'connected_gene': 'LOC101926915', 'score': 0.13}]
chr6 GH06I046382 46382054 46383613 0.95 [{'connected_gene': 'ENPP4', 'score': 4.37}, {'connected_gene': 'RPL36P10', 'score': 0.22}, {'connected_gene': 'LOC101926915', 'score': 0.14}, {'connected_gene': 'RCAN2', 'score': 0.14}]
chr6 GH06I046376 46376600 46377200 0.83 [{'connected_gene': 'ENPP4', 'score': 5.38}, {'connected_gene': 'RPL36P10', 'score': 0.21}, {'connected_gene': 'LOC101926915', 'score': 0.15}, {'connected_gene': 'RCAN2', 'score': 0.13}]
chr6 GH06I046017 46017379 46018311 0.2 [{'connected_gene': 'RNU6-754P', 'score': 550.77}, {'connected_gene': 'CLIC5', 'score': 9.83}, {'connected_gene': 'ENSG00000231769', 'score': 9.44}, {'connected_gene': 'ENPP4', 'score': 9.44}, {'connected_gene': 'GC06M045521', 'score': 0.21}]
chr6 GH06I046322 46322979 46324151 0.67 [{'connected_gene': 'RCAN2', 'score': 7.23}, {'connected_gene': 'SLC25A27', 'score': 3.17}, {'connected_gene': 'ENPP4', 'score': 2.65}, {'connected_gene': 'ENPP5', 'score': 1.55}, {'connected_gene': 'CLIC5', 'score': 1.28}, {'connected_gene': 'LOC101926915', 'score': 0.25}, {'connected_gene': 'RPL36P10', 'score': 0.14}]
chr6 GH06I046410 46410464 46410613 0.91 [{'connected_gene': 'RCAN2', 'score': 15.42}, {'connected_gene': 'LOC101926898', 'score': 10.86}, {'connected_gene': 'CLIC5', 'score': 10.09}, {'connected_gene': 'ENPP4', 'score': 7.53}, {'connected_gene': 'RPL36P10', 'score': 0.31}, {'connected_gene': 'LOC101926915', 'score': 0.12}]
chr6 GH06I046424 46424231 46424859 0.2 [{'connected_gene': 'LOC101926898', 'score': 11.62}, {'connected_gene': 'RCAN2', 'score': 11.62}, {'connected_gene': 'CLIC5', 'score': 9.93}, {'connected_gene': 'ENPP4', 'score': 5.03}, {'connected_gene': 'RPL36P10', 'score': 0.39}, {'connected_gene': 'LOC101926915', 'score': 0.11}]
chr6 GH06I046421 46421888 46422555 0.31 [{'connected_gene': 'LOC101926898', 'score': 11.62}, {'connected_gene': 'RCAN2', 'score': 11.62}, {'connected_gene': 'CLIC5', 'score': 9.93}, {'connected_gene': 'ENPP4', 'score': 5.09}, {'connected_gene': 'RPL36P10', 'score': 0.37}, {'connected_gene': 'LOC101926915', 'score': 0.11}]
chr6 GH06I046422 46422611 46423440 0.2 [{'connected_gene': 'LOC101926898', 'score': 11.62}, {'connected_gene': 'RCAN2', 'score': 11.62}, {'connected_gene': 'CLIC5', 'score': 9.93}, {'connected_gene': 'ENPP4', 'score': 5.08}, {'connected_gene': 'RPL36P10', 'score': 0.37}, {'connected_gene': 'LOC101926915', 'score': 0.11}]
chr6 GH06I046263 46263784 46263933 0.31 [{'connected_gene': 'LOC101926898', 'score': 9.79}, {'connected_gene': 'RCAN2', 'score': 9.79}, {'connected_gene': 'ENSG00000231769', 'score': 9.77}, {'connected_gene': 'ENPP4', 'score': 9.77}, {'connected_gene': 'LOC101926915', 'score': 0.39}, {'connected_gene': 'LOC105375079', 'score': 0.25}]
chr6 GH06I046128 46128379 46131053 2.1 [{'connected_gene': 'ENSG00000231769', 'score': 584.69}, {'connected_gene': 'ENPP4', 'score': 579.25}, {'connected_gene': 'TDRD6', 'score': 4.48}]