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
ENST00000222726 [[27180670, 27181704], [27182664, 27183287]] [[27181453, 27181704], [27182664, 27183226]]
ENST00000520854 [[27181425, 27181704], [27182344, 27182394]] None
NM_019102 [[27180670, 27181704], [27182664, 27183287]] [[27181453, 27181704], [27182664, 27183226]]
Promoter
Chrom Start End Description
chr7 27183095 27183108 CAGE_peak_7_at_HOXA5_5end
chr7 27183114 27183138 CAGE_peak_3_at_HOXA5_5end
chr7 27183141 27183152 CAGE_peak_6_at_HOXA5_5end
chr7 27183156 27183167 CAGE_peak_8_at_HOXA5_5end
chr7 27183191 27183214 CAGE_peak_4_at_HOXA5_5end
chr7 27183263 27183284 CAGE_peak_2_at_HOXA5_5end
chr7 27183291 27183324 CAGE_peak_1_at_HOXA5_5end
chr7 27183325 27183338 CAGE_peak_5_at_HOXA5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I026862 26862557 26865671 2.28 [{'connected_gene': 'SKAP2', 'score': 558.35}, {'connected_gene': 'HOTAIRM1', 'score': 22.1}, {'connected_gene': 'HNRNPA2B1', 'score': 12.66}, {'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA1', 'score': 11.49}, {'connected_gene': 'HOXA2', 'score': 11.1}, {'connected_gene': 'HOXA9', 'score': 10.74}, {'connected_gene': 'HOXA10-AS', 'score': 10.74}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'KIAA0087', 'score': 9.85}, {'connected_gene': 'SNX10', 'score': 5.33}, {'connected_gene': 'GC07P026846', 'score': 0.34}, {'connected_gene': 'RPL7AP38', 'score': 0.22}]
chr7 GH07I026853 26853902 26854051 0.77 [{'connected_gene': 'HOXA5', 'score': 18.37}, {'connected_gene': 'HOXA-AS3', 'score': 11.99}, {'connected_gene': 'HOXA4', 'score': 11.99}, {'connected_gene': 'HOXA6', 'score': 11.99}, {'connected_gene': 'HOXA3', 'score': 11.99}, {'connected_gene': 'HOTAIRM1', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.11}]
chr7 GH07I027095 27095069 27181321 3.41 [{'connected_gene': 'HOXA2', 'score': 576.17}, {'connected_gene': 'HOXA9', 'score': 568.02}, {'connected_gene': 'HOXA10', 'score': 565.55}, {'connected_gene': 'HOXA1', 'score': 562.16}, {'connected_gene': 'HOXA3', 'score': 560.98}, {'connected_gene': 'HOXA6', 'score': 557.72}, {'connected_gene': 'HOXA4', 'score': 553.76}, {'connected_gene': 'HOXA5', 'score': 553.17}, {'connected_gene': 'HOXA7', 'score': 552.7}, {'connected_gene': 'HNRNPA2B1', 'score': 58.04}, {'connected_gene': 'HOTAIRM1', 'score': 43.49}, {'connected_gene': 'HOXA10-AS', 'score': 27.61}, {'connected_gene': 'HOXA-AS2', 'score': 21.16}, {'connected_gene': 'CBX3', 'score': 19.35}, {'connected_gene': 'HOXA11-AS', 'score': 15.79}, {'connected_gene': 'HOXA11', 'score': 14.27}, {'connected_gene': 'SKAP2', 'score': 13.15}, {'connected_gene': 'HOXA13', 'score': 12.76}, {'connected_gene': 'ENSG00000253508', 'score': 11.26}, {'connected_gene': 'HOTTIP', 'score': 11.25}, {'connected_gene': 'LOC105375304', 'score': 10.2}, {'connected_gene': 'KIAA0087', 'score': 9.83}, {'connected_gene': 'HOXA-AS3', 'score': 0.44}, {'connected_gene': 'ENSG00000272801', 'score': 0.39}, {'connected_gene': 'ENSG00000273433', 'score': 0.39}, {'connected_gene': 'LOC105375205', 'score': 0.34}, {'connected_gene': 'ENSG00000270182', 'score': 0.34}, {'connected_gene': 'GC07P027116', 'score': 0.34}, {'connected_gene': 'GC07M027172', 'score': 0.29}, {'connected_gene': 'MIR196B', 'score': 0.29}, {'connected_gene': 'ENSG00000277694', 'score': 0.28}, {'connected_gene': 'ENSG00000274396', 'score': 0.28}, {'connected_gene': 'ENSG00000274864', 'score': 0.28}, {'connected_gene': 'ENSG00000276771', 'score': 0.28}, {'connected_gene': 'ENSG00000257184', 'score': 0.26}, {'connected_gene': 'HOXA10-HOXA9', 'score': 0.26}, {'connected_gene': 'ENSG00000276528', 'score': 0.26}]
chr7 GH07I026813 26813526 26813881 0.66 [{'connected_gene': 'HOXA2', 'score': 10.46}, {'connected_gene': 'HOXA-AS2', 'score': 10.46}, {'connected_gene': 'HOXA3', 'score': 10.46}, {'connected_gene': 'HOTAIRM1', 'score': 10.16}, {'connected_gene': 'HOXA1', 'score': 10.16}, {'connected_gene': 'HOXA5', 'score': 6.44}, {'connected_gene': 'GC07P026846', 'score': 0.31}, {'connected_gene': 'GC07M026718', 'score': 0.2}, {'connected_gene': 'SKAP2', 'score': 0.09}, {'connected_gene': 'GC07P026242', 'score': 0.03}]
chr7 GH07I026855 26855142 26859953 1.26 [{'connected_gene': 'HOTAIRM1', 'score': 36.78}, {'connected_gene': 'HOXA5', 'score': 18.57}, {'connected_gene': 'HOXA-AS3', 'score': 12.19}, {'connected_gene': 'HOXA4', 'score': 12.19}, {'connected_gene': 'HOXA3', 'score': 12.19}, {'connected_gene': 'HOXA6', 'score': 12.19}, {'connected_gene': 'HOXA1', 'score': 11.69}, {'connected_gene': 'HOXA2', 'score': 11.69}, {'connected_gene': 'HOXA-AS2', 'score': 11.16}, {'connected_gene': 'SKAP2', 'score': 6.46}, {'connected_gene': 'GC07P026846', 'score': 0.39}, {'connected_gene': 'RPL7AP38', 'score': 0.21}]
chr7 GH07I026860 26860462 26860611 0.74 [{'connected_gene': 'HOXA-AS3', 'score': 11.82}, {'connected_gene': 'HOXA5', 'score': 11.82}, {'connected_gene': 'HOXA4', 'score': 11.82}, {'connected_gene': 'HOXA6', 'score': 11.82}, {'connected_gene': 'HOXA3', 'score': 11.82}, {'connected_gene': 'HOXA2', 'score': 11.11}, {'connected_gene': 'HOTAIRM1', 'score': 11.1}, {'connected_gene': 'HOXA1', 'score': 11.1}, {'connected_gene': 'HOXA-AS2', 'score': 10.57}, {'connected_gene': 'GC07P026846', 'score': 0.37}, {'connected_gene': 'RPL7AP38', 'score': 0.21}, {'connected_gene': 'SKAP2', 'score': 0.12}]
chr7 GH07I026842 26841479 26841693 0.63 [{'connected_gene': 'GC07P026846', 'score': 550.77}, {'connected_gene': 'HOXA5', 'score': 6.46}, {'connected_gene': 'GC07M026718', 'score': 0.15}, {'connected_gene': 'SKAP2', 'score': 0.1}, {'connected_gene': 'GC07P026242', 'score': 0.03}]