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
ENST00000265395 [[27565060, 27565991], [27570810, 27570967], [27577959, 27578036], [27582585, 27582719], [27668989, 27669111], [27671954, 27672064], [27689091, 27689252], [27702316, 27702614]] [[27565832, 27565991], [27570810, 27570967], [27577959, 27578036], [27582585, 27582719], [27668989, 27669111], [27671954, 27672064], [27689091, 27689252], [27702316, 27702407]]
ENST00000428288 [[27565093, 27565991], [27570810, 27570967], [27577959, 27578036], [27582585, 27582719], [27668989, 27669111], [27671954, 27672064], [27702316, 27702487]] [[27672035, 27672064], [27702316, 27702407]]
ENST00000425715 [[27570872, 27570967], [27577959, 27578036], [27582585, 27582719], [27668989, 27669111], [27671954, 27672060], [27687291, 27687375]] [[27570872, 27570967], [27577959, 27578036], [27582585, 27582719], [27668989, 27669111], [27671954, 27672060], [27687291, 27687375]]
ENST00000496814 [[27688842, 27689252], [27702316, 27702476]] None
NM_152740 [[27565058, 27565991], [27570810, 27570967], [27577959, 27578036], [27582585, 27582719], [27668989, 27669111], [27671954, 27672064], [27689091, 27689252], [27702316, 27702620]] [[27565832, 27565991], [27570810, 27570967], [27577959, 27578036], [27582585, 27582719], [27668989, 27669111], [27671954, 27672064], [27689091, 27689252], [27702316, 27702407]]
Promoter
Chrom Start End Description
chr7 27702362 27702373 CAGE_peak_3_at_HIBADH_5end
chr7 27702408 27702415 CAGE_peak_4_at_HIBADH_5end
chr7 27702419 27702438 CAGE_peak_2_at_HIBADH_5end
chr7 27702455 27702632 CAGE_peak_1_at_HIBADH_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I027872 27872005 27875689 0.69 [{'connected_gene': 'TAX1BP1', 'score': 10.03}, {'connected_gene': 'HIBADH', 'score': 5.15}, {'connected_gene': 'GC07P027880', 'score': 0.44}, {'connected_gene': 'GC07M027840', 'score': 0.31}, {'connected_gene': 'JAZF1', 'score': 0.06}]
chr7 GH07I027736 27736956 27741863 2.05 [{'connected_gene': 'TAX1BP1', 'score': 562.46}, {'connected_gene': 'LOC105375210', 'score': 550.77}, {'connected_gene': 'HIBADH', 'score': 18.92}, {'connected_gene': 'LOC442292', 'score': 4.27}]
chr7 GH07I027605 27605302 27605442 0.31 [{'connected_gene': 'TSL', 'score': 0.39}, {'connected_gene': 'HIBADH', 'score': 0.22}, {'connected_gene': 'PIR36003', 'score': 0.18}]
chr7 GH07I028290 28290437 28294209 0.94 [{'connected_gene': 'HIBADH', 'score': 5.1}, {'connected_gene': 'CREB5', 'score': 0.44}, {'connected_gene': 'PPIAP80', 'score': 0.39}]
chr7 GH07I027606 27605604 27608344 1.51 [{'connected_gene': 'HIBADH', 'score': 16.4}, {'connected_gene': 'TAX1BP1', 'score': 8.91}, {'connected_gene': 'TSL', 'score': 0.44}, {'connected_gene': 'PIR36003', 'score': 0.18}]
chr7 GH07I027693 27693601 27694189 1.08 [{'connected_gene': 'HIBADH', 'score': 11.44}, {'connected_gene': 'TAX1BP1', 'score': 0.25}, {'connected_gene': 'LOC105375211', 'score': 0.25}]
chr7 GH07I027709 27709192 27710232 0.74 [{'connected_gene': 'HIBADH', 'score': 9.04}, {'connected_gene': 'TAX1BP1', 'score': 0.31}, {'connected_gene': 'LOC105375211', 'score': 0.21}]
chr7 GH07I027714 27714341 27715782 0.6 [{'connected_gene': 'HIBADH', 'score': 19.66}, {'connected_gene': 'TAX1BP1', 'score': 18.46}, {'connected_gene': 'LOC105375210', 'score': 11.78}, {'connected_gene': 'LOC442292', 'score': 5.12}, {'connected_gene': 'LOC105375211', 'score': 0.2}]
chr7 GH07I027689 27689762 27689851 0.57 [{'connected_gene': 'HIBADH', 'score': 12.24}, {'connected_gene': 'TAX1BP1', 'score': 11.68}, {'connected_gene': 'LOC105375210', 'score': 11.67}, {'connected_gene': 'LOC105375211', 'score': 0.26}]
chr7 GH07I027515 27515657 27516734 0.38 [{'connected_gene': 'HIBADH', 'score': 16.61}, {'connected_gene': 'TAX1BP1', 'score': 8.67}, {'connected_gene': 'PIR36003', 'score': 0.39}, {'connected_gene': 'GC07P027503', 'score': 0.39}]
chr7 GH07I027608 27608740 27609371 0.66 [{'connected_gene': 'HIBADH', 'score': 13.71}, {'connected_gene': 'TSL', 'score': 0.44}, {'connected_gene': 'PIR36003', 'score': 0.18}]
chr7 GH07I027586 27586773 27587230 0.56 [{'connected_gene': 'HIBADH', 'score': 10.28}, {'connected_gene': 'TSL', 'score': 0.31}, {'connected_gene': 'PIR36003', 'score': 0.22}]
chr7 GH07I027551 27551875 27552202 0.58 [{'connected_gene': 'HIBADH', 'score': 14.92}, {'connected_gene': 'LOC442292', 'score': 6.48}, {'connected_gene': 'PIR36003', 'score': 0.34}, {'connected_gene': 'TSL', 'score': 0.21}]
chr7 GH07I027661 27661231 27664574 2.09 [{'connected_gene': 'HIBADH', 'score': 562.46}, {'connected_gene': 'EIF4HP1', 'score': 23.98}, {'connected_gene': 'HOXA7', 'score': 11.02}, {'connected_gene': 'HOXA3', 'score': 10.29}, {'connected_gene': 'LOC105375211', 'score': 0.37}]
chr7 GH07I027603 27603962 27604111 0.63 [{'connected_gene': 'HIBADH', 'score': 21.2}, {'connected_gene': 'HOXA13', 'score': 10.64}, {'connected_gene': 'HOTTIP', 'score': 10.64}, {'connected_gene': 'ENSG00000253508', 'score': 10.64}, {'connected_gene': 'TSL', 'score': 0.39}, {'connected_gene': 'PIR36003', 'score': 0.19}]
chr7 GH07I027602 27602314 27603380 0.84 [{'connected_gene': 'HIBADH', 'score': 23.1}, {'connected_gene': 'HOXA13', 'score': 10.64}, {'connected_gene': 'HOTTIP', 'score': 10.64}, {'connected_gene': 'ENSG00000253508', 'score': 10.64}, {'connected_gene': 'TSL', 'score': 0.39}, {'connected_gene': 'PIR36003', 'score': 0.19}]
chr7 GH07I027945 27945982 27947013 0.31 [{'connected_gene': 'HIBADH', 'score': 9.97}, {'connected_gene': 'ENSG00000253508', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.65}, {'connected_gene': 'HOTTIP', 'score': 9.65}, {'connected_gene': 'PIR39851', 'score': 0.21}, {'connected_gene': 'PIR54187', 'score': 0.18}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027712 27712143 27713387 0.62 [{'connected_gene': 'HIBADH', 'score': 11.82}, {'connected_gene': 'HOXA1', 'score': 4.36}, {'connected_gene': 'TAX1BP1', 'score': 0.31}, {'connected_gene': 'LOC105375211', 'score': 0.2}]
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 GH07I027639 27639538 27642715 0.94 [{'connected_gene': 'HIBADH', 'score': 30.52}, {'connected_gene': 'LOC105375211', 'score': 0.44}, {'connected_gene': 'TSL', 'score': 0.31}]
chr7 GH07I027676 27676604 27680022 1.33 [{'connected_gene': 'HIBADH', 'score': 13.55}, {'connected_gene': 'LOC105375210', 'score': 10.89}, {'connected_gene': 'TAX1BP1', 'score': 10.89}, {'connected_gene': 'LOC105375211', 'score': 0.29}]
chr7 GH07I027697 27697463 27699081 0.79 [{'connected_gene': 'HIBADH', 'score': 20.85}, {'connected_gene': 'LOC105375210', 'score': 11.66}, {'connected_gene': 'TAX1BP1', 'score': 11.66}, {'connected_gene': 'LOC105375211', 'score': 0.23}]
chr7 GH07I027744 27744568 27747146 1.12 [{'connected_gene': 'HIBADH', 'score': 7.82}, {'connected_gene': 'LOC105375210', 'score': 0.44}, {'connected_gene': 'TAX1BP1', 'score': 0.44}, {'connected_gene': 'GC07M027748', 'score': 0.44}]
chr7 GH07I027734 27734291 27736506 0.98 [{'connected_gene': 'HIBADH', 'score': 8.61}, {'connected_gene': 'LOC105375210', 'score': 0.77}, {'connected_gene': 'TAX1BP1', 'score': 0.77}]
chr7 GH07I027374 27374598 27376842 0.2 [{'connected_gene': 'HIBADH', 'score': 4.19}, {'connected_gene': 'LOC105375206', 'score': 0.77}, {'connected_gene': 'GC07P027363', 'score': 0.39}, {'connected_gene': 'LOC105375207', 'score': 0.39}]
chr7 GH07I027560 27560622 27561676 0.38 [{'connected_gene': 'HIBADH', 'score': 12.25}, {'connected_gene': 'EVX1-AS', 'score': 9.83}, {'connected_gene': 'ENSG00000253308', 'score': 9.83}, {'connected_gene': 'EVX1', 'score': 9.83}, {'connected_gene': 'PIR36003', 'score': 0.29}, {'connected_gene': 'TSL', 'score': 0.23}]
chr7 GH07I027942 27942847 27945872 0.49 [{'connected_gene': 'HIBADH', 'score': 9.97}, {'connected_gene': 'ENSG00000253508', 'score': 9.65}, {'connected_gene': 'HOTTIP', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.65}, {'connected_gene': 'TAX1BP1', 'score': 5.14}, {'connected_gene': 'PIR39851', 'score': 0.22}, {'connected_gene': 'PIR54187', 'score': 0.17}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027647 27647162 27647311 0.65 [{'connected_gene': 'LOC105375211', 'score': 550.77}, {'connected_gene': 'HIBADH', 'score': 0.37}]
chr7 GH07I027533 27533596 27533907 0.58 [{'connected_gene': 'EVX1-AS', 'score': 9.86}, {'connected_gene': 'ENSG00000253308', 'score': 9.86}, {'connected_gene': 'EVX1', 'score': 9.86}, {'connected_gene': 'PIR36003', 'score': 0.77}, {'connected_gene': 'TSL', 'score': 0.18}, {'connected_gene': 'HIBADH', 'score': 0.13}]
chr7 GH07I027534 27534261 27534366 0.22 [{'connected_gene': 'EVX1-AS', 'score': 9.86}, {'connected_gene': 'ENSG00000253308', 'score': 9.86}, {'connected_gene': 'EVX1', 'score': 9.86}, {'connected_gene': 'PIR36003', 'score': 0.44}, {'connected_gene': 'TSL', 'score': 0.18}, {'connected_gene': 'HIBADH', 'score': 0.13}]
chr7 GH07I027553 27553240 27553496 0.4 [{'connected_gene': 'PIR36003', 'score': 0.34}, {'connected_gene': 'TSL', 'score': 0.21}, {'connected_gene': 'HIBADH', 'score': 0.14}]
chr7 GH07I027546 27546817 27548032 0.38 [{'connected_gene': 'ENSG00000253308', 'score': 9.69}, {'connected_gene': 'EVX1', 'score': 9.69}, {'connected_gene': 'EVX1-AS', 'score': 9.69}, {'connected_gene': 'HIBADH', 'score': 9.01}, {'connected_gene': 'PIR36003', 'score': 0.37}, {'connected_gene': 'TSL', 'score': 0.2}]
chr7 GH07I028052 28052357 28056903 1.03 [{'connected_gene': 'GC07P028054', 'score': 550.77}, {'connected_gene': 'EVX1-AS', 'score': 9.11}, {'connected_gene': 'ENSG00000253308', 'score': 9.11}, {'connected_gene': 'EVX1', 'score': 9.11}, {'connected_gene': 'HIBADH', 'score': 1.42}, {'connected_gene': 'GC07P028046', 'score': 0.44}, {'connected_gene': 'LOC105375208', 'score': 0.37}, {'connected_gene': 'JAZF1', 'score': 0.13}]