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
ENST00000583088 [[21279508, 21280225], [21311830, 21311952], [21318598, 21323179]] [[21318654, 21319956]]
ENST00000331718 [[21308447, 21308639], [21311830, 21311952], [21318598, 21320482]] [[21318654, 21319956]]
NM_021012 [[21279698, 21280225], [21311830, 21311952], [21318598, 21323179]] [[21318654, 21319956]]
Promoter
Chrom Start End Description
chr17 21279636 21279697 CAGE_peak_1_at_KCNJ12_5end,CAGE_peak_1_at_KCNJ18_5end
chr17 21279752 21279758 CAGE_peak_5_at_KCNJ12_5end,CAGE_peak_5_at_KCNJ18_5end
chr17 21279959 21279979 CAGE_peak_3_at_KCNJ12_5end,CAGE_peak_3_at_KCNJ18_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I021400 21400940 21403391 1.29 [{'connected_gene': 'RPL21P120', 'score': 18.26}, {'connected_gene': 'ENSG00000266050', 'score': 11.08}, {'connected_gene': 'ENSG00000235530', 'score': 10.06}, {'connected_gene': 'GC17M021394', 'score': 0.44}, {'connected_gene': 'GC17M021385', 'score': 0.39}, {'connected_gene': 'KCNJ12', 'score': 0.31}, {'connected_gene': 'GC17P024748', 'score': 0.28}]
chr17 GH17I021281 21281583 21290737 2.65 [{'connected_gene': 'MAP2K3', 'score': 569.75}, {'connected_gene': 'GC17P024329', 'score': 550.77}, {'connected_gene': 'KCNJ12', 'score': 14.8}, {'connected_gene': 'DHRS7B', 'score': 11.38}, {'connected_gene': 'NATD1', 'score': 4.56}]
chr17 GH17I021419 21419046 21420384 0.54 [{'connected_gene': 'MAP2K3', 'score': 10.92}, {'connected_gene': 'GC17P024738', 'score': 0.77}, {'connected_gene': 'PDLIM1P2', 'score': 0.31}, {'connected_gene': 'KCNJ12', 'score': 0.26}, {'connected_gene': 'GC17P024748', 'score': 0.22}]
chr17 GH17I021411 21411029 21411315 1.49 [{'connected_gene': 'KCNJ12', 'score': 550.29}, {'connected_gene': 'MEIS3P2', 'score': 21.33}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021385', 'score': 0.77}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'GC17P024748', 'score': 0.25}]
chr17 GH17I021267 21267225 21269236 1.03 [{'connected_gene': 'KCNJ12', 'score': 9.72}, {'connected_gene': 'NATD1', 'score': 4.76}, {'connected_gene': 'PIR52124', 'score': 0.77}, {'connected_gene': 'EIF1P5', 'score': 0.44}]
chr17 GH17I021345 21345607 21349571 0.84 [{'connected_gene': 'KCNJ12', 'score': 12.46}, {'connected_gene': 'UPF3AP2', 'score': 10.19}, {'connected_gene': 'GC17M021334', 'score': 0.77}, {'connected_gene': 'GC17P024748', 'score': 0.37}]
chr17 GH17I021379 21379449 21379638 0.38 [{'connected_gene': 'KCNJ12', 'score': 0.77}, {'connected_gene': 'GC17P024748', 'score': 0.37}, {'connected_gene': 'GC17M021394', 'score': 0.37}]
chr17 GH17I021376 21376161 21378150 1.74 [{'connected_gene': 'KCNJ12', 'score': 558.07}, {'connected_gene': 'GC17P024748', 'score': 0.39}, {'connected_gene': 'GC17M021394', 'score': 0.37}]
chr17 GH17I021397 21397135 21398128 0.4 [{'connected_gene': 'KCNJ12', 'score': 7.62}, {'connected_gene': 'GC17M021394', 'score': 0.77}, {'connected_gene': 'GC17M021385', 'score': 0.37}, {'connected_gene': 'GC17P024748', 'score': 0.29}]
chr17 GH17I021358 21358179 21359985 0.66 [{'connected_gene': 'KCNJ12', 'score': 17.65}, {'connected_gene': 'GC17P024748', 'score': 0.77}, {'connected_gene': 'GC17M021334', 'score': 0.39}]
chr17 GH17I021369 21369870 21371542 0.92 [{'connected_gene': 'KCNJ12', 'score': 26.21}, {'connected_gene': 'GC17P024748', 'score': 0.44}]
chr17 GH17I021322 21322601 21323800 1.2 [{'connected_gene': 'UPF3AP2', 'score': 11.0}, {'connected_gene': 'MEIS3P2', 'score': 10.94}, {'connected_gene': 'KCNJ12', 'score': 10.85}, {'connected_gene': 'MAP2K3', 'score': 10.79}, {'connected_gene': 'PIR55402', 'score': 0.39}, {'connected_gene': 'GC17M021294', 'score': 0.31}]
chr17 GH17I021368 21368986 21369190 0.44 [{'connected_gene': 'KCNJ18', 'score': 2.42}, {'connected_gene': 'GC17P024748', 'score': 0.44}, {'connected_gene': 'KCNJ12', 'score': 0.44}]
chr17 GH17I021413 21411975 21412677 0.79 [{'connected_gene': 'GC17M021385', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'KCNJ12', 'score': 0.28}, {'connected_gene': 'GC17P024748', 'score': 0.25}]
chr17 GH17I021412 21411709 21411858 0.82 [{'connected_gene': 'GC17M021385', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'KCNJ12', 'score': 0.28}, {'connected_gene': 'GC17P024748', 'score': 0.25}]
chr17 GH17I021414 21413066 21413871 0.66 [{'connected_gene': 'GC17M021385', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'KCNJ12', 'score': 0.28}, {'connected_gene': 'GC17P024748', 'score': 0.23}]
chr17 GH17I021274 21274941 21276800 1.67 [{'connected_gene': 'ENSG00000235530', 'score': 11.0}, {'connected_gene': 'KCNJ12', 'score': 10.35}, {'connected_gene': 'NATD1', 'score': 5.72}, {'connected_gene': 'MAP2K3', 'score': 2.71}, {'connected_gene': 'CCDC144NL', 'score': 1.93}, {'connected_gene': 'PIR52124', 'score': 0.77}]
chr17 GH17I021389 21389509 21389658 0.2 [{'connected_gene': 'GC17M021394', 'score': 0.44}, {'connected_gene': 'KCNJ12', 'score': 0.39}, {'connected_gene': 'GC17M021385', 'score': 0.34}, {'connected_gene': 'GC17P024748', 'score': 0.31}]
chr17 GH17I021405 21405400 21405601 0.63 [{'connected_gene': 'GC17M021385', 'score': 0.44}, {'connected_gene': 'GC17M021394', 'score': 0.39}, {'connected_gene': 'KCNJ12', 'score': 0.31}, {'connected_gene': 'GC17P024748', 'score': 0.26}]