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
ENST00000343483 [[27202053, 27203460], [27204496, 27205149]] [[27203221, 27203460], [27204496, 27205076]]
ENST00000497089 [[27202218, 27203460], [27208912, 27209063]] None
ENST00000487384 [[27202925, 27203460], [27204496, 27204586], [27210049, 27210117]] None
ENST00000396345 [[27203139, 27203460], [27204496, 27204586], [27204759, 27205145]] [[27204582, 27204586], [27204759, 27205076]]
ENST00000489695 [[27203300, 27203460], [27204496, 27204586], [27209085, 27209356]] None
NM_152739 [[27202056, 27203460], [27204496, 27205149]] [[27203221, 27203460], [27204496, 27205076]]
Promoter
Chrom Start End Description
chr7 27205043 27205050 CAGE_peak_5_at_HOXA9_5end
chr7 27205066 27205067 CAGE_peak_7_at_HOXA9_5end
chr7 27205089 27205096 CAGE_peak_4_at_HOXA9_5end
chr7 27205106 27205134 CAGE_peak_2_at_HOXA9_5end
chr7 27205136 27205164 CAGE_peak_1_at_HOXA9_5end
chr7 27205175 27205184 CAGE_peak_3_at_HOXA9_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 GH07I028018 28018649 28020856 0.97 [{'connected_gene': 'HOXA13', 'score': 10.82}, {'connected_gene': 'ENSG00000253508', 'score': 10.82}, {'connected_gene': 'HOTTIP', 'score': 10.82}, {'connected_gene': 'HOXA11', 'score': 10.29}, {'connected_gene': 'HOXA11-AS', 'score': 10.29}, {'connected_gene': 'HOXA10', 'score': 10.29}, {'connected_gene': 'HOXA9', 'score': 10.29}, {'connected_gene': 'PIR54187', 'score': 0.39}, {'connected_gene': 'PIR39851', 'score': 0.12}, {'connected_gene': 'JAZF1', 'score': 0.1}]
chr7 GH07I028017 28017713 28018307 0.43 [{'connected_gene': 'HOXA13', 'score': 10.34}, {'connected_gene': 'HOTTIP', 'score': 10.34}, {'connected_gene': 'ENSG00000253508', 'score': 10.33}, {'connected_gene': 'HOXA11-AS', 'score': 10.12}, {'connected_gene': 'HOXA11', 'score': 10.12}, {'connected_gene': 'HOXA10', 'score': 10.12}, {'connected_gene': 'HOXA9', 'score': 10.12}, {'connected_gene': 'PIR54187', 'score': 0.39}, {'connected_gene': 'PIR39851', 'score': 0.12}, {'connected_gene': 'JAZF1', 'score': 0.1}]
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 GH07I028082 28082367 28084999 1.11 [{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7 GH07I028081 28081201 28081400 0.2 [{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7 GH07I027784 27784400 27784800 0.96 [{'connected_gene': 'HIBADH', 'score': 11.07}, {'connected_gene': 'HOXA11-AS', 'score': 10.23}, {'connected_gene': 'HOXA10', 'score': 10.23}, {'connected_gene': 'HOXA9', 'score': 10.23}, {'connected_gene': 'HOXA11', 'score': 10.23}, {'connected_gene': 'HOTTIP', 'score': 10.2}, {'connected_gene': 'HOXA13', 'score': 10.2}, {'connected_gene': 'ENSG00000253508', 'score': 10.2}, {'connected_gene': 'GC07M027748', 'score': 0.29}, {'connected_gene': 'GC07P027829', 'score': 0.26}, {'connected_gene': 'TAX1BP1', 'score': 0.25}]
chr7 GH07I026372 26372120 26377750 1.91 [{'connected_gene': 'LOC105375304', 'score': 557.73}, {'connected_gene': 'HNRNPA2B1', 'score': 48.53}, {'connected_gene': 'HOXA10-AS', 'score': 11.98}, {'connected_gene': 'HOXA9', 'score': 11.98}, {'connected_gene': 'CBX3', 'score': 10.86}, {'connected_gene': 'KIAA0087', 'score': 9.89}, {'connected_gene': 'C7orf71', 'score': 9.35}, {'connected_gene': 'SNX10', 'score': 8.07}, {'connected_gene': 'LOC441204', 'score': 4.73}, {'connected_gene': 'GC07P026242', 'score': 0.12}]
chr7 GH07I027922 27922996 27923499 0.46 [{'connected_gene': 'ENSG00000253508', 'score': 11.56}, {'connected_gene': 'HOXA13', 'score': 11.56}, {'connected_gene': 'HOTTIP', 'score': 11.56}, {'connected_gene': 'HOXA11-AS', 'score': 10.71}, {'connected_gene': 'HOXA11', 'score': 10.71}, {'connected_gene': 'HOXA9', 'score': 10.71}, {'connected_gene': 'HOXA10', 'score': 10.71}, {'connected_gene': 'PIR39851', 'score': 0.28}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027920 27920991 27921638 1.04 [{'connected_gene': 'ENSG00000253508', 'score': 11.56}, {'connected_gene': 'HOXA13', 'score': 11.56}, {'connected_gene': 'HOTTIP', 'score': 11.56}, {'connected_gene': 'HOXA11-AS', 'score': 10.71}, {'connected_gene': 'HOXA11', 'score': 10.71}, {'connected_gene': 'HOXA9', 'score': 10.71}, {'connected_gene': 'HOXA10', 'score': 10.71}, {'connected_gene': 'ENSG00000253308', 'score': 10.65}, {'connected_gene': 'EVX1', 'score': 10.64}, {'connected_gene': 'EVX1-AS', 'score': 10.08}, {'connected_gene': 'PIR39851', 'score': 0.28}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027204 27204847 27205717 0.38 [{'connected_gene': 'ENSG00000277553', 'score': 550.77}, {'connected_gene': 'HOXA10', 'score': 11.63}, {'connected_gene': 'HOXA9', 'score': 11.61}, {'connected_gene': 'ENSG00000253308', 'score': 11.54}, {'connected_gene': 'EVX1', 'score': 11.54}, {'connected_gene': 'EVX1-AS', 'score': 11.53}, {'connected_gene': 'ENSG00000277469', 'score': 0.77}, {'connected_gene': 'HOTTIP', 'score': 0.44}]
chr7 GH07I027203 27202161 27202758 0.54 [{'connected_gene': 'ENSG00000278708', 'score': 550.77}, {'connected_gene': 'ENSG00000276609', 'score': 550.77}, {'connected_gene': 'ENSG00000277469', 'score': 550.77}, {'connected_gene': 'ENSG00000253308', 'score': 11.98}, {'connected_gene': 'EVX1', 'score': 11.97}, {'connected_gene': 'EVX1-AS', 'score': 11.97}, {'connected_gene': 'HOXA10', 'score': 11.66}, {'connected_gene': 'HOXA9', 'score': 11.63}, {'connected_gene': 'HOTTIP', 'score': 0.77}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7 GH07I027210 27210239 27211438 0.83 [{'connected_gene': 'ENSG00000253308', 'score': 11.75}, {'connected_gene': 'EVX1', 'score': 11.75}, {'connected_gene': 'EVX1-AS', 'score': 11.73}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 9.33}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA13', 'score': 5.9}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7 GH07I027213 27213663 27213798 0.37 [{'connected_gene': 'ENSG00000253308', 'score': 11.77}, {'connected_gene': 'EVX1', 'score': 11.77}, {'connected_gene': 'EVX1-AS', 'score': 11.75}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA1', 'score': 9.32}, {'connected_gene': 'ENSG00000277553', 'score': 0.44}]
chr7 GH07I026655 26655660 26656329 0.69 [{'connected_gene': 'GC07M026655', 'score': 550.77}, {'connected_gene': 'LOC105375304', 'score': 11.51}, {'connected_gene': 'SKAP2', 'score': 11.23}, {'connected_gene': 'HOXA10-AS', 'score': 10.46}, {'connected_gene': 'HOXA9', 'score': 10.46}, {'connected_gene': 'HOTAIRM1', 'score': 7.06}, {'connected_gene': 'GC07P026673', 'score': 0.37}, {'connected_gene': 'GC07P026242', 'score': 0.05}]
chr7 GH07I026653 26653459 26654289 0.8 [{'connected_gene': 'GC07M026655', 'score': 550.77}, {'connected_gene': 'LOC105375304', 'score': 11.51}, {'connected_gene': 'HOXA10-AS', 'score': 10.46}, {'connected_gene': 'HOXA9', 'score': 10.45}, {'connected_gene': 'C7orf71', 'score': 0.37}, {'connected_gene': 'GC07P026242', 'score': 0.05}]