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
NM_001291419 [[42341147, 42341419], [42342008, 42342335], [42343253, 42343479], [42343581, 42343657], [42347644, 42347794]] [[42341216, 42341419], [42342008, 42342335], [42343253, 42343359]]
NM_173506 [[42341147, 42341419], [42342008, 42342335], [42342954, 42343098], [42343292, 42343479], [42347644, 42348736]] [[42341216, 42341419], [42342008, 42342335], [42342954, 42343098], [42343292, 42343359]]
Promoter
Chrom Start End Description
chr19 42347971 42347972 CAGE_peak_2_at_LYPD4_5end
chr19 42348167 42348177 CAGE_peak_6_at_LYPD4_5end
chr19 42348445 42348452 CAGE_peak_8_at_LYPD4_5end
chr19 42348613 42348618 CAGE_peak_4_at_LYPD4_5end
chr19 42348692 42348771 CAGE_peak_1_at_LYPD4_5end
chr19 42348773 42348781 CAGE_peak_3_at_LYPD4_5end
chr19 42348929 42348938 CAGE_peak_5_at_LYPD4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I041821 41821219 41821368 0.59 [{'connected_gene': 'CEACAM3', 'score': 12.26}, {'connected_gene': 'DMRTC2', 'score': 12.0}, {'connected_gene': 'LYPD4', 'score': 12.0}, {'connected_gene': 'CEACAM6', 'score': 11.43}, {'connected_gene': 'CEACAM5', 'score': 10.72}, {'connected_gene': 'HNRNPA1P52', 'score': 0.44}, {'connected_gene': 'GC19P041806', 'score': 0.37}]
chr19 GH19I041795 41795309 41795458 0.87 [{'connected_gene': 'CEACAM3', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 11.48}, {'connected_gene': 'DMRTC2', 'score': 11.44}, {'connected_gene': 'LYPD4', 'score': 11.44}, {'connected_gene': 'CYP2G1P', 'score': 11.04}, {'connected_gene': 'CEACAM5', 'score': 10.67}, {'connected_gene': 'MEGF8', 'score': 10.29}, {'connected_gene': 'CEACAM7', 'score': 9.7}, {'connected_gene': 'GC19M041795', 'score': 0.77}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19 GH19I041797 41795069 41795258 0.89 [{'connected_gene': 'CEACAM3', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 11.48}, {'connected_gene': 'DMRTC2', 'score': 11.44}, {'connected_gene': 'LYPD4', 'score': 11.44}, {'connected_gene': 'CYP2G1P', 'score': 11.04}, {'connected_gene': 'CEACAM5', 'score': 10.67}, {'connected_gene': 'MEGF8', 'score': 10.29}, {'connected_gene': 'CEACAM7', 'score': 9.7}, {'connected_gene': 'GC19M041795', 'score': 0.77}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19 GH19I041808 41808601 41809437 0.2 [{'connected_gene': 'DMRTC2', 'score': 11.68}, {'connected_gene': 'LYPD4', 'score': 11.68}, {'connected_gene': 'GC19P041806', 'score': 0.77}, {'connected_gene': 'CEACAM3', 'score': 0.39}, {'connected_gene': 'HNRNPA1P52', 'score': 0.34}]
chr19 GH19I041810 41810001 41811800 0.77 [{'connected_gene': 'DMRTC2', 'score': 25.96}, {'connected_gene': 'LYPD4', 'score': 11.69}, {'connected_gene': 'GC19P041806', 'score': 0.77}, {'connected_gene': 'CEACAM3', 'score': 0.39}, {'connected_gene': 'HNRNPA1P52', 'score': 0.37}]
chr19 GH19I041846 41844993 41845052 0.73 [{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'RPS19', 'score': 0.39}]
chr19 GH19I041790 41790369 41791042 0.31 [{'connected_gene': 'DMRTC2', 'score': 12.19}, {'connected_gene': 'LYPD4', 'score': 12.19}, {'connected_gene': 'CEACAM6', 'score': 11.6}, {'connected_gene': 'ENSG00000268833', 'score': 0.77}, {'connected_gene': 'CEACAM3', 'score': 0.44}]
chr19 GH19I041791 41791397 41793797 0.6 [{'connected_gene': 'DMRTC2', 'score': 17.01}, {'connected_gene': 'LYPD4', 'score': 12.19}, {'connected_gene': 'CEACAM6', 'score': 11.58}, {'connected_gene': 'CEACAM5', 'score': 10.68}, {'connected_gene': 'CEACAM7', 'score': 10.48}, {'connected_gene': 'CEACAM3', 'score': 6.18}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19 GH19I041845 41844673 41844732 0.84 [{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'GC19M041840', 'score': 0.44}, {'connected_gene': 'PIR52767', 'score': 0.44}]
chr19 GH19I041843 41843001 41843200 0.46 [{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'GC19M041840', 'score': 0.77}, {'connected_gene': 'PIR52767', 'score': 0.77}]
chr19 GH19I041844 41844560 41844619 0.76 [{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'GC19M041840', 'score': 0.44}, {'connected_gene': 'PIR52767', 'score': 0.44}]
chr19 GH19I041996 41996009 41996293 0.83 [{'connected_gene': 'ATP1A3', 'score': 552.08}, {'connected_gene': 'GRIK5', 'score': 18.75}, {'connected_gene': 'DMRTC2', 'score': 4.2}, {'connected_gene': 'LYPD4', 'score': 4.08}, {'connected_gene': 'LIPE', 'score': 3.25}, {'connected_gene': 'TMEM145', 'score': 2.22}, {'connected_gene': 'RABAC1', 'score': 0.28}]
chr19 GH19I041778 41778836 41780967 0.43 [{'connected_gene': 'CEACAM6', 'score': 11.99}, {'connected_gene': 'DMRTC2', 'score': 11.17}, {'connected_gene': 'LYPD4', 'score': 11.17}, {'connected_gene': 'CEACAM7', 'score': 10.6}, {'connected_gene': 'CEACAM5', 'score': 10.59}, {'connected_gene': 'CEACAM4', 'score': 10.07}, {'connected_gene': 'DMAC2', 'score': 9.87}, {'connected_gene': 'ERICH4', 'score': 9.25}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19 GH19I042267 42267435 42274340 2.68 [{'connected_gene': 'CIC', 'score': 553.37}, {'connected_gene': 'PIR59110', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 79.36}, {'connected_gene': 'ZNF574', 'score': 64.73}, {'connected_gene': 'CCDC97', 'score': 44.16}, {'connected_gene': 'DEDD2', 'score': 19.36}, {'connected_gene': 'MEGF8', 'score': 18.02}, {'connected_gene': 'CEACAM3', 'score': 15.92}, {'connected_gene': 'PRR19', 'score': 13.07}, {'connected_gene': 'PAFAH1B3', 'score': 13.07}, {'connected_gene': 'GSK3A', 'score': 12.84}, {'connected_gene': 'TMEM145', 'score': 10.12}, {'connected_gene': 'DMRTC2', 'score': 9.9}, {'connected_gene': 'LOC732229', 'score': 9.72}, {'connected_gene': 'LYPD4', 'score': 8.77}, {'connected_gene': 'LIPE', 'score': 6.93}, {'connected_gene': 'ARHGEF1', 'score': 5.82}, {'connected_gene': 'CEACAM8', 'score': 3.92}, {'connected_gene': 'ERF', 'score': 3.75}, {'connected_gene': 'POU2F2', 'score': 1.91}]
chr19 GH19I041777 41777675 41778501 0.2 [{'connected_gene': 'LYPD4', 'score': 15.89}, {'connected_gene': 'CEACAM6', 'score': 13.11}, {'connected_gene': 'DMRTC2', 'score': 11.74}, {'connected_gene': 'CEACAM5', 'score': 11.29}, {'connected_gene': 'CEACAM4', 'score': 10.85}, {'connected_gene': 'CEACAM7', 'score': 10.77}, {'connected_gene': 'DMAC2', 'score': 9.87}, {'connected_gene': 'ERICH4', 'score': 9.42}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19 GH19I041732 41732481 41737086 1.03 [{'connected_gene': 'CEACAM7', 'score': 22.7}, {'connected_gene': 'CEACAM5', 'score': 11.81}, {'connected_gene': 'DMRTC2', 'score': 10.83}, {'connected_gene': 'LYPD4', 'score': 10.82}, {'connected_gene': 'CEACAM6', 'score': 0.37}, {'connected_gene': 'ENSG00000267881', 'score': 0.31}]
chr19 GH19I041738 41738776 41742189 0.54 [{'connected_gene': 'CEACAM5', 'score': 11.79}, {'connected_gene': 'DMRTC2', 'score': 11.4}, {'connected_gene': 'LYPD4', 'score': 11.4}, {'connected_gene': 'CEACAM7', 'score': 11.08}, {'connected_gene': 'CEACAM4', 'score': 10.74}, {'connected_gene': 'CEACAM6', 'score': 0.39}, {'connected_gene': 'ENSG00000267881', 'score': 0.29}]
chr19 GH19I041776 41776833 41776982 0.8 [{'connected_gene': 'CEACAM5', 'score': 11.08}, {'connected_gene': 'CEACAM7', 'score': 10.78}, {'connected_gene': 'LYPD4', 'score': 5.66}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}, {'connected_gene': 'CEACAM6', 'score': 0.31}]
chr19 GH19I041800 41800801 41803124 1.31 [{'connected_gene': 'LOC100422623', 'score': 550.77}, {'connected_gene': 'GC19M041795', 'score': 550.77}, {'connected_gene': 'CEACAM3', 'score': 28.0}, {'connected_gene': 'CEACAM4', 'score': 27.06}, {'connected_gene': 'DMRTC2', 'score': 25.09}, {'connected_gene': 'DEDD2', 'score': 17.06}, {'connected_gene': 'LYPD4', 'score': 11.72}, {'connected_gene': 'CEACAM6', 'score': 11.55}, {'connected_gene': 'CEACAM21', 'score': 5.86}, {'connected_gene': 'TMEM91', 'score': 5.71}, {'connected_gene': 'B9D2', 'score': 3.27}, {'connected_gene': 'TGFB1', 'score': 2.79}, {'connected_gene': 'ARHGEF1', 'score': 2.05}, {'connected_gene': 'ERF', 'score': 1.83}]
chr19 GH19I041804 41804308 41804674 0.48 [{'connected_gene': 'LOC100422623', 'score': 550.77}, {'connected_gene': 'GC19P041806', 'score': 550.77}, {'connected_gene': 'DMRTC2', 'score': 25.78}, {'connected_gene': 'CEACAM3', 'score': 25.31}, {'connected_gene': 'CEACAM4', 'score': 22.54}, {'connected_gene': 'DEDD2', 'score': 15.55}, {'connected_gene': 'LYPD4', 'score': 11.66}, {'connected_gene': 'TMEM91', 'score': 5.55}, {'connected_gene': 'CEACAM21', 'score': 4.85}, {'connected_gene': 'B9D2', 'score': 3.54}, {'connected_gene': 'TGFB1', 'score': 3.43}, {'connected_gene': 'ARHGEF1', 'score': 2.29}, {'connected_gene': 'ERF', 'score': 1.71}, {'connected_gene': 'CCDC97', 'score': 1.14}]
chr19 GH19I041787 41787809 41789598 0.43 [{'connected_gene': 'ENSG00000268833', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 12.8}, {'connected_gene': 'DMRTC2', 'score': 12.18}, {'connected_gene': 'LYPD4', 'score': 12.18}, {'connected_gene': 'CEACAM3', 'score': 0.44}]
chr19 GH19I041836 41836102 41836251 0.72 [{'connected_gene': 'ENSG00000278239', 'score': 550.77}, {'connected_gene': 'PIR42828', 'score': 0.77}, {'connected_gene': 'LYPD4', 'score': 0.44}]
chr19 GH19I041798 41797201 41799741 0.99 [{'connected_gene': 'GC19M041795', 'score': 550.77}, {'connected_gene': 'CEACAM4', 'score': 26.95}, {'connected_gene': 'CEACAM3', 'score': 24.73}, {'connected_gene': 'DEDD2', 'score': 17.13}, {'connected_gene': 'DMRTC2', 'score': 11.7}, {'connected_gene': 'LYPD4', 'score': 11.7}, {'connected_gene': 'CEACAM6', 'score': 11.57}, {'connected_gene': 'TMEM91', 'score': 5.76}, {'connected_gene': 'CEACAM21', 'score': 5.52}, {'connected_gene': 'PCAT19', 'score': 4.67}, {'connected_gene': 'B9D2', 'score': 3.35}, {'connected_gene': 'TGFB1', 'score': 2.87}, {'connected_gene': 'ARHGEF1', 'score': 2.28}, {'connected_gene': 'ERF', 'score': 1.75}]