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
ENST00000282146 [[90528108, 90528883], [90650454, 90652201]] [[90528549, 90528883], [90650454, 90651347]]
NM_022054 [[90528108, 90528883], [90650454, 90652201]] [[90528549, 90528883], [90650454, 90651347]]
Promoter
Chrom Start End Description
chr14 90528333 90528366 CAGE_peak_1_at_KCNK13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I090368 90368954 90370190 0.85 [{'connected_gene': 'CALM1', 'score': 11.91}, {'connected_gene': 'NRDE2', 'score': 10.98}, {'connected_gene': 'KCNK13', 'score': 4.57}, {'connected_gene': 'RPL21P11', 'score': 0.77}, {'connected_gene': 'GC14P090384', 'score': 0.39}]
chr14 GH14I090255 90255937 90257801 2.02 [{'connected_gene': 'PSMC1', 'score': 550.77}, {'connected_gene': 'KCNK13', 'score': 7.19}, {'connected_gene': 'GC14P090272', 'score': 0.37}]
chr14 GH14I090296 90295601 90297009 0.86 [{'connected_gene': 'PSMC1', 'score': 11.71}, {'connected_gene': 'NRDE2', 'score': 11.7}, {'connected_gene': 'KCNK13', 'score': 8.74}, {'connected_gene': 'PIR41665', 'score': 0.44}, {'connected_gene': 'PIR47953', 'score': 0.37}]
chr14 GH14I089919 89919670 89920671 0.31 [{'connected_gene': 'KCNK13', 'score': 10.51}, {'connected_gene': 'RAB42P1', 'score': 0.31}, {'connected_gene': 'EFCAB11', 'score': 0.29}, {'connected_gene': 'ENSG00000259053', 'score': 0.29}]
chr14 GH14I089921 89921167 89923280 0.51 [{'connected_gene': 'KCNK13', 'score': 10.52}, {'connected_gene': 'TDP1', 'score': 6.37}, {'connected_gene': 'EFCAB11', 'score': 0.29}, {'connected_gene': 'ENSG00000259053', 'score': 0.29}, {'connected_gene': 'RAB42P1', 'score': 0.29}]
chr14 GH14I090062 90062617 90062766 0.56 [{'connected_gene': 'KCNK13', 'score': 550.77}, {'connected_gene': 'TDP1', 'score': 9.15}, {'connected_gene': 'GLRXP2', 'score': 0.26}]
chr14 GH14I089998 89998856 89999040 0.23 [{'connected_gene': 'KCNK13', 'score': 11.06}, {'connected_gene': 'GC14M092124', 'score': 0.37}, {'connected_gene': 'TDP1', 'score': 0.26}]
chr14 GH14I090060 90060400 90060686 1.39 [{'connected_gene': 'KCNK13', 'score': 550.77}, {'connected_gene': 'TDP1', 'score': 4.82}, {'connected_gene': 'PIR51411', 'score': 0.37}]
chr14 GH14I090022 90022236 90023523 0.2 [{'connected_gene': 'KCNK13', 'score': 11.5}, {'connected_gene': 'GC14M092124', 'score': 0.77}, {'connected_gene': 'PIR51411', 'score': 0.34}, {'connected_gene': 'TDP1', 'score': 0.2}]
chr14 GH14I089959 89959896 89960699 0.38 [{'connected_gene': 'KCNK13', 'score': 10.39}, {'connected_gene': 'TDP1', 'score': 0.44}, {'connected_gene': 'GC14M092124', 'score': 0.22}]
chr14 GH14I090094 90094338 90094597 0.27 [{'connected_gene': 'KCNK13', 'score': 28.96}, {'connected_gene': 'GLRXP2', 'score': 0.39}]
chr14 GH14I090103 90103957 90104106 0.59 [{'connected_gene': 'KCNK13', 'score': 15.88}, {'connected_gene': 'GLRXP2', 'score': 0.77}]
chr14 GH14I090061 90061800 90062401 1.17 [{'connected_gene': 'KCNK13', 'score': 550.77}, {'connected_gene': 'GLRXP2', 'score': 0.25}]
chr14 GH14I090064 90064201 90064600 0.31 [{'connected_gene': 'KCNK13', 'score': 0.77}, {'connected_gene': 'GLRXP2', 'score': 0.26}]
chr14 GH14I090087 90087479 90087801 1.1 [{'connected_gene': 'KCNK13', 'score': 15.96}, {'connected_gene': 'GLRXP2', 'score': 0.37}]
chr14 GH14I090356 90356929 90357944 0.54 [{'connected_gene': 'KCNK13', 'score': 5.98}, {'connected_gene': 'LOC105370618', 'score': 0.44}, {'connected_gene': 'NRDE2', 'score': 0.31}]
chr14 GH14I090354 90354777 90356821 0.84 [{'connected_gene': 'KCNK13', 'score': 6.41}, {'connected_gene': 'LOC105370618', 'score': 0.44}, {'connected_gene': 'NRDE2', 'score': 0.34}]
chr14 GH14I090235 90235201 90235673 0.82 [{'connected_gene': 'KCNK13', 'score': 8.7}, {'connected_gene': 'GC14M092126', 'score': 0.39}, {'connected_gene': 'ENSG00000201351', 'score': 0.22}]
chr14 GH14I090170 90170717 90170866 0.31 [{'connected_gene': 'KCNK13', 'score': 10.73}, {'connected_gene': 'GC14P090179', 'score': 0.44}, {'connected_gene': 'GC14P090108', 'score': 0.21}]
chr14 GH14I090171 90170943 90171322 0.2 [{'connected_gene': 'KCNK13', 'score': 10.73}, {'connected_gene': 'GC14P090179', 'score': 0.44}, {'connected_gene': 'GC14P090108', 'score': 0.21}]
chr14 GH14I090063 90061649 90061708 0.76 [{'connected_gene': 'KCNK13', 'score': 550.77}, {'connected_gene': 'PIR51411', 'score': 0.37}]
chr14 GH14I089953 89953579 89958301 2.08 [{'connected_gene': 'TDP1', 'score': 561.99}, {'connected_gene': 'EFCAB11', 'score': 550.77}, {'connected_gene': 'ENSG00000259053', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 32.54}, {'connected_gene': 'KCNK13', 'score': 10.79}, {'connected_gene': 'GC14M092124', 'score': 0.21}]
chr14 GH14I090300 90300600 90305882 1.2 [{'connected_gene': 'NRDE2', 'score': 18.15}, {'connected_gene': 'CALM1', 'score': 15.44}, {'connected_gene': 'KCNK13', 'score': 8.93}, {'connected_gene': 'PIR47953', 'score': 0.44}, {'connected_gene': 'PIR41665', 'score': 0.39}]
chr14 GH14I090298 90298500 90300342 1.22 [{'connected_gene': 'NRDE2', 'score': 16.86}, {'connected_gene': 'CALM1', 'score': 4.94}, {'connected_gene': 'KCNK13', 'score': 3.38}, {'connected_gene': 'PIR47953', 'score': 0.39}, {'connected_gene': 'PIR41665', 'score': 0.39}]
chr14 GH14I090140 90140512 90141726 0.96 [{'connected_gene': 'NRDE2', 'score': 17.68}, {'connected_gene': 'RPS18P2', 'score': 10.5}, {'connected_gene': 'GC14P090108', 'score': 0.29}, {'connected_gene': 'GC14P090179', 'score': 0.28}, {'connected_gene': 'KCNK13', 'score': 0.18}]
chr14 GH14I090141 90140357 90140506 0.74 [{'connected_gene': 'NRDE2', 'score': 17.68}, {'connected_gene': 'RPS18P2', 'score': 10.5}, {'connected_gene': 'GC14P090108', 'score': 0.29}, {'connected_gene': 'GC14P090179', 'score': 0.28}, {'connected_gene': 'KCNK13', 'score': 0.18}]
chr14 GH14I089909 89909629 89913706 1.41 [{'connected_gene': 'NRDE2', 'score': 10.68}, {'connected_gene': 'RPL21P11', 'score': 9.7}, {'connected_gene': 'TDP1', 'score': 7.59}, {'connected_gene': 'EFCAB11', 'score': 6.15}, {'connected_gene': 'FOXN3', 'score': 5.24}, {'connected_gene': 'KCNK13', 'score': 1.47}, {'connected_gene': 'RAB42P1', 'score': 0.37}, {'connected_gene': 'ENSG00000259053', 'score': 0.26}]
chr14 GH14I089301 89301864 89309799 1.61 [{'connected_gene': 'CAP2P1', 'score': 5.78}, {'connected_gene': 'KCNK13', 'score': 5.1}, {'connected_gene': 'FOXN3', 'score': 4.17}, {'connected_gene': 'GC14M092114', 'score': 0.29}, {'connected_gene': 'GC14M092133', 'score': 0.28}]
chr14 GH14I090157 90157972 90159986 0.46 [{'connected_gene': 'GC14P090179', 'score': 0.37}, {'connected_gene': 'GC14P090108', 'score': 0.23}, {'connected_gene': 'KCNK13', 'score': 0.15}]
chr14 GH14I090112 90112337 90112486 0.43 [{'connected_gene': 'GC14P090108', 'score': 0.77}, {'connected_gene': 'KCNK13', 'score': 0.23}, {'connected_gene': 'GC14P090179', 'score': 0.21}]
chr14 GH14I090380 90380312 90386146 1.83 [{'connected_gene': 'GC14P090384', 'score': 550.77}, {'connected_gene': 'ENSG00000275198', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 10.86}, {'connected_gene': 'CALM1', 'score': 6.34}, {'connected_gene': 'ENSG00000258424', 'score': 5.05}, {'connected_gene': 'KCNK13', 'score': 4.58}, {'connected_gene': 'RPL21P11', 'score': 0.37}]
chr14 GH14I090289 90289859 90291251 0.2 [{'connected_gene': 'PIR41665', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 15.49}, {'connected_gene': 'CALM1', 'score': 10.82}, {'connected_gene': 'KCNK13', 'score': 7.17}, {'connected_gene': 'PIR47953', 'score': 0.34}]
chr14 GH14I090273 90273973 90277187 0.94 [{'connected_gene': 'PIR51620', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 11.27}, {'connected_gene': 'KCNK13', 'score': 8.83}, {'connected_gene': 'GC14M092131', 'score': 0.44}, {'connected_gene': 'PSMC1', 'score': 0.37}]