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
ENST00000595740 [[42254884, 42255130], [42255550, 42255656], [42259427, 42259610], [42260507, 42260543]] [[42259546, 42259610], [42260507, 42260543]]
ENST00000199764 [[42259328, 42259610], [42260507, 42260867], [42265156, 42265435], [42265876, 42266131], [42270090, 42270207], [42274706, 42276113]] [[42259546, 42259610], [42260507, 42260867], [42265156, 42265435], [42265876, 42266131], [42270090, 42270167]]
NM_002483 [[42259427, 42259610], [42260507, 42260867], [42265156, 42265435], [42265876, 42266131], [42270090, 42270207], [42274706, 42276113]] [[42259546, 42259610], [42260507, 42260867], [42265156, 42265435], [42265876, 42266131], [42270090, 42270167]]
Promoter
Chrom Start End Description
chr19 42259430 42259452 CAGE_peak_1_at_CEACAM6_5end
chr19 42259465 42259476 CAGE_peak_2_at_CEACAM6_5end
chr19 42259486 42259495 CAGE_peak_3_at_CEACAM6_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 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 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 GH19I041750 41750492 41751510 0.69 [{'connected_gene': 'CEACAM6', 'score': 550.77}, {'connected_gene': 'CEACAM5', 'score': 11.26}, {'connected_gene': 'CEACAM7', 'score': 11.12}, {'connected_gene': 'ENSG00000268833', 'score': 0.28}, {'connected_gene': 'ENSG00000267881', 'score': 0.26}]
chr19 GH19I041753 41753293 41753442 0.77 [{'connected_gene': 'CEACAM6', 'score': 0.77}, {'connected_gene': 'ENSG00000268833', 'score': 0.29}, {'connected_gene': 'ENSG00000267881', 'score': 0.26}]
chr19 GH19I041754 41754033 41754182 0.62 [{'connected_gene': 'CEACAM6', 'score': 0.77}, {'connected_gene': 'ENSG00000268833', 'score': 0.29}, {'connected_gene': 'ENSG00000267881', 'score': 0.25}]
chr19 GH19I041755 41755480 41755539 0.61 [{'connected_gene': 'CEACAM6', 'score': 550.77}, {'connected_gene': 'ENSG00000268833', 'score': 0.29}, {'connected_gene': 'ENSG00000267881', 'score': 0.25}]
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 GH19I041772 41772122 41776509 0.93 [{'connected_gene': 'HNRNPUL1', 'score': 17.55}, {'connected_gene': 'ZNF526', 'score': 15.61}, {'connected_gene': 'CCDC97', 'score': 15.09}, {'connected_gene': 'ENSG00000269843', 'score': 12.96}, {'connected_gene': 'CEACAM5', 'score': 11.08}, {'connected_gene': 'CEACAM7', 'score': 10.78}, {'connected_gene': 'ERF', 'score': 10.32}, {'connected_gene': 'RPS19', 'score': 9.84}, {'connected_gene': 'HNRNPA1P52', 'score': 9.17}, {'connected_gene': 'RABAC1', 'score': 8.22}, {'connected_gene': 'ENSG00000268833', 'score': 0.39}, {'connected_gene': 'CEACAM6', 'score': 0.34}]
chr19 GH19I041720 41720703 41722151 0.38 [{'connected_gene': 'CEACAM4', 'score': 11.06}, {'connected_gene': 'BCKDHA', 'score': 9.01}, {'connected_gene': 'EXOSC5', 'score': 9.01}, {'connected_gene': 'CEACAM21', 'score': 5.63}, {'connected_gene': 'ENSG00000267881', 'score': 0.39}, {'connected_gene': 'CEACAM5', 'score': 0.39}, {'connected_gene': 'CEACAM6', 'score': 0.31}]
chr19 GH19I041670 41670159 41671931 0.43 [{'connected_gene': 'CEACAM4', 'score': 16.71}, {'connected_gene': 'CEACAM6', 'score': 11.33}, {'connected_gene': 'CEACAM5', 'score': 11.25}, {'connected_gene': 'CEACAM7', 'score': 10.44}, {'connected_gene': 'DMAC2', 'score': 10.26}, {'connected_gene': 'ERICH4', 'score': 10.04}, {'connected_gene': 'LOC105372405', 'score': 0.44}]
chr19 GH19I041726 41726323 41728219 0.38 [{'connected_gene': 'CEACAM7', 'score': 10.97}, {'connected_gene': 'CEACAM4', 'score': 10.31}, {'connected_gene': 'DMAC2', 'score': 9.78}, {'connected_gene': 'ERICH4', 'score': 9.57}, {'connected_gene': 'RABAC1', 'score': 4.65}, {'connected_gene': 'ENSG00000267881', 'score': 0.37}, {'connected_gene': 'CEACAM5', 'score': 0.37}, {'connected_gene': 'CEACAM6', 'score': 0.34}]
chr19 GH19I041667 41667678 41668376 0.2 [{'connected_gene': 'CEACAM7', 'score': 11.81}, {'connected_gene': 'CEACAM4', 'score': 11.37}, {'connected_gene': 'CEACAM5', 'score': 11.18}, {'connected_gene': 'CEACAM6', 'score': 10.33}, {'connected_gene': 'ENSG00000268582', 'score': 6.26}, {'connected_gene': 'LOC105372405', 'score': 0.77}]
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 GH19I041744 41744083 41746870 0.99 [{'connected_gene': 'CEACAM5', 'score': 11.71}, {'connected_gene': 'SNRPA', 'score': 11.54}, {'connected_gene': 'HNRNPUL1', 'score': 11.5}, {'connected_gene': 'CEACAM7', 'score': 10.91}, {'connected_gene': 'ZNF526', 'score': 10.55}, {'connected_gene': 'CEACAM4', 'score': 10.48}, {'connected_gene': 'ZNF574', 'score': 10.35}, {'connected_gene': 'ENSG00000269843', 'score': 10.19}, {'connected_gene': 'CCDC97', 'score': 9.77}, {'connected_gene': 'CEACAM6', 'score': 0.44}, {'connected_gene': 'ENSG00000267881', 'score': 0.28}]
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 GH19I041766 41766971 41767931 0.2 [{'connected_gene': 'CEACAM5', 'score': 11.26}, {'connected_gene': 'CEACAM7', 'score': 10.77}, {'connected_gene': 'CEACAM3', 'score': 8.19}, {'connected_gene': 'CEACAM6', 'score': 0.37}, {'connected_gene': 'ENSG00000268833', 'score': 0.37}]
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 GH19I041730 41730594 41731246 0.2 [{'connected_gene': 'CEACAM5', 'score': 12.01}, {'connected_gene': 'CEACAM7', 'score': 10.97}, {'connected_gene': 'CEACAM4', 'score': 10.31}, {'connected_gene': 'DMAC2', 'score': 9.78}, {'connected_gene': 'ERICH4', 'score': 9.57}, {'connected_gene': 'RABAC1', 'score': 5.06}, {'connected_gene': 'ENSG00000267881', 'score': 0.34}, {'connected_gene': 'CEACAM6', 'score': 0.34}]
chr19 GH19I041637 41637192 41640051 0.97 [{'connected_gene': 'DNAJC19P3', 'score': 550.77}, {'connected_gene': 'GC19M041655', 'score': 550.77}, {'connected_gene': 'ENSG00000269354', 'score': 550.77}, {'connected_gene': 'CEACAM7', 'score': 15.93}, {'connected_gene': 'CEACAM5', 'score': 11.2}, {'connected_gene': 'CEACAM6', 'score': 10.34}, {'connected_gene': 'DMAC2', 'score': 9.71}, {'connected_gene': 'BCKDHA', 'score': 9.14}, {'connected_gene': 'EXOSC5', 'score': 9.14}, {'connected_gene': 'ENSG00000268582', 'score': 6.76}, {'connected_gene': 'ARHGEF1', 'score': 6.27}, {'connected_gene': 'B9D2', 'score': 4.52}, {'connected_gene': 'CEACAM4', 'score': 3.0}, {'connected_gene': 'TMEM91', 'score': 1.23}, {'connected_gene': 'HNRNPUL1', 'score': 1.16}]
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 GH19I041784 41784547 41786262 1.32 [{'connected_gene': 'ENSG00000268833', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 12.82}, {'connected_gene': 'HNRNPA1P52', 'score': 12.22}, {'connected_gene': 'CEACAM5', 'score': 11.13}, {'connected_gene': 'RABAC1', 'score': 10.74}, {'connected_gene': 'CEACAM4', 'score': 9.7}, {'connected_gene': 'DMAC2', 'score': 9.39}]
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 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}]

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