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
ENST00000600663 [[51834789, 51835894], [51837044, 51837199], [51837444, 51837558], [51840491, 51840788], [51841183, 51841462], [51842141, 51842396], [51842917, 51843009]] [[51840734, 51840788], [51841183, 51841462], [51842141, 51842396], [51842917, 51842920]]
ENST00000335624 [[51835071, 51835894], [51837044, 51837199], [51837444, 51837558], [51840491, 51840788], [51841183, 51841462], [51842141, 51842396], [51843268, 51843553], [51843686, 51843980], [51844406, 51845261], [51845338, 51845378]] [[51835864, 51835894], [51837044, 51837199], [51837444, 51837558], [51840491, 51840788], [51841183, 51841462], [51842141, 51842396], [51843268, 51843553], [51843686, 51843980], [51844406, 51845261], [51845338, 51845378]]
NM_001163922 [[51834794, 51835894], [51837044, 51837199], [51837444, 51837558], [51840491, 51840788], [51841183, 51841462], [51842141, 51842396], [51843268, 51843553], [51843686, 51843980], [51844406, 51845261], [51845338, 51845378]] [[51835864, 51835894], [51837044, 51837199], [51837444, 51837558], [51840491, 51840788], [51841183, 51841462], [51842141, 51842396], [51843268, 51843553], [51843686, 51843980], [51844406, 51845261], [51845338, 51845378]]
Promoter
Chrom Start End Description
chr19 51845384 51845409 CAGE_peak_1_at_VSIG10L_5end
chr19 51845411 51845412 CAGE_peak_10_at_VSIG10L_5end
chr19 51845449 51845465 CAGE_peak_4_at_VSIG10L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I051438 51438367 51438456 0.59 [{'connected_gene': 'SIGLEC12', 'score': 12.05}, {'connected_gene': 'CEACAM18', 'score': 11.44}, {'connected_gene': 'VSIG10L', 'score': 11.08}, {'connected_gene': 'SIGLEC5', 'score': 11.01}, {'connected_gene': 'SIGLEC14', 'score': 11.01}, {'connected_gene': 'RPL7P51', 'score': 11.01}, {'connected_gene': 'NKG7', 'score': 10.85}, {'connected_gene': 'CLDND2', 'score': 10.85}, {'connected_gene': 'ETFB', 'score': 10.84}, {'connected_gene': 'SPACA6', 'score': 9.86}, {'connected_gene': 'MIR125A', 'score': 9.86}, {'connected_gene': 'MIR99B', 'score': 9.86}, {'connected_gene': 'MIRLET7E', 'score': 9.86}, {'connected_gene': 'ENSG00000269181', 'score': 0.77}, {'connected_gene': 'ENSG00000268711', 'score': 0.39}]
chr19 GH19I051430 51430801 51431629 1.02 [{'connected_gene': 'SIGLEC10', 'score': 7.31}, {'connected_gene': 'VSIG10L', 'score': 5.33}, {'connected_gene': 'SIGLEC14', 'score': 5.09}, {'connected_gene': 'SIGLEC9', 'score': 2.45}, {'connected_gene': 'FPR3', 'score': 1.77}, {'connected_gene': 'FPR2', 'score': 1.61}, {'connected_gene': 'FPR1', 'score': 1.48}, {'connected_gene': 'ENSG00000268711', 'score': 0.77}, {'connected_gene': 'ENSG00000269181', 'score': 0.39}]
chr19 GH19I051370 51370248 51376452 1.46 [{'connected_gene': 'NKG7', 'score': 550.77}, {'connected_gene': 'VSIG10L', 'score': 5.84}, {'connected_gene': 'LIM2', 'score': 0.39}]
chr19 GH19I051406 51406801 51409732 1.02 [{'connected_gene': 'NKG7', 'score': 11.92}, {'connected_gene': 'CLDND2', 'score': 11.92}, {'connected_gene': 'ETFB', 'score': 11.91}, {'connected_gene': 'SIGLEC8', 'score': 11.39}, {'connected_gene': 'VSIG10L', 'score': 11.29}, {'connected_gene': 'RPL7P51', 'score': 10.03}, {'connected_gene': 'SIGLEC5', 'score': 10.03}, {'connected_gene': 'SIGLEC14', 'score': 10.03}, {'connected_gene': 'FPR3', 'score': 9.1}, {'connected_gene': 'SIGLEC10', 'score': 6.25}, {'connected_gene': 'NIFKP6', 'score': 0.77}, {'connected_gene': 'ENSG00000254760', 'score': 0.44}, {'connected_gene': 'LOC105372446', 'score': 0.39}]
chr19 GH19I051259 51259467 51259616 0.6 [{'connected_gene': 'SIGLEC17P', 'score': 12.48}, {'connected_gene': 'VSIG10L', 'score': 9.99}, {'connected_gene': 'CTU1', 'score': 9.82}, {'connected_gene': 'SIGLEC5', 'score': 9.03}, {'connected_gene': 'SIGLEC14', 'score': 9.03}, {'connected_gene': 'RPL7P51', 'score': 9.03}, {'connected_gene': 'ENSG00000268595', 'score': 0.39}, {'connected_gene': 'SIGLECL1', 'score': 0.39}]
chr19 GH19I051294 51294267 51294416 0.56 [{'connected_gene': 'SIGLEC8', 'score': 10.76}, {'connected_gene': 'VSIG10L', 'score': 10.45}, {'connected_gene': 'LOC100420904', 'score': 0.39}, {'connected_gene': 'IGLON5', 'score': 0.37}, {'connected_gene': 'LINC01872', 'score': 0.34}]
chr19 GH19I051295 51295565 51296082 0.2 [{'connected_gene': 'SIGLEC8', 'score': 10.76}, {'connected_gene': 'VSIG10L', 'score': 10.45}, {'connected_gene': 'LOC100420904', 'score': 0.39}, {'connected_gene': 'IGLON5', 'score': 0.37}]
chr19 GH19I051360 51360670 51369216 2.53 [{'connected_gene': 'ETFB', 'score': 555.99}, {'connected_gene': 'ENSG00000268520', 'score': 550.77}, {'connected_gene': 'CLDND2', 'score': 550.77}, {'connected_gene': 'ZNF616', 'score': 36.29}, {'connected_gene': 'POLD1', 'score': 35.07}, {'connected_gene': 'ZNF766', 'score': 32.5}, {'connected_gene': 'ZNF836', 'score': 28.96}, {'connected_gene': 'ZNF841', 'score': 26.45}, {'connected_gene': 'ZNF577', 'score': 24.27}, {'connected_gene': 'ZNF175', 'score': 23.0}, {'connected_gene': 'LOC100419835', 'score': 20.73}, {'connected_gene': 'VSIG10L', 'score': 14.44}, {'connected_gene': 'ZNF614', 'score': 14.04}, {'connected_gene': 'ENSG00000267808', 'score': 13.87}, {'connected_gene': 'ZNF615', 'score': 13.49}, {'connected_gene': 'ZNF350', 'score': 12.23}, {'connected_gene': 'ZNF432', 'score': 11.56}, {'connected_gene': 'CTU1', 'score': 10.91}, {'connected_gene': 'ZNF649', 'score': 10.88}, {'connected_gene': 'SIGLEC6', 'score': 10.74}, {'connected_gene': 'ZNF480', 'score': 10.29}, {'connected_gene': 'SIGLEC8', 'score': 10.21}, {'connected_gene': 'ZNF613', 'score': 10.1}, {'connected_gene': 'SIGLEC5', 'score': 10.02}, {'connected_gene': 'SIGLEC14', 'score': 10.02}, {'connected_gene': 'RPL7P51', 'score': 10.02}, {'connected_gene': 'ENSG00000268316', 'score': 9.69}, {'connected_gene': 'ENSG00000269403', 'score': 0.77}, {'connected_gene': 'ENSG00000267984', 'score': 0.37}]
chr19 GH19I051358 51358907 51360290 0.54 [{'connected_gene': 'VSIG10L', 'score': 11.45}, {'connected_gene': 'SIGLEC5', 'score': 10.71}, {'connected_gene': 'SIGLEC14', 'score': 10.71}, {'connected_gene': 'RPL7P51', 'score': 10.71}, {'connected_gene': 'SIGLEC8', 'score': 10.21}, {'connected_gene': 'ETFB', 'score': 0.44}, {'connected_gene': 'ENSG00000268520', 'score': 0.44}, {'connected_gene': 'ENSG00000269403', 'score': 0.44}, {'connected_gene': 'ENSG00000267984', 'score': 0.39}]
chr19 GH19I051292 51292889 51294051 0.46 [{'connected_gene': 'VSIG10L', 'score': 16.85}, {'connected_gene': 'SIGLEC8', 'score': 10.82}, {'connected_gene': 'CTU1', 'score': 9.93}, {'connected_gene': 'RPL7P51', 'score': 9.71}, {'connected_gene': 'SIGLEC5', 'score': 9.7}, {'connected_gene': 'SIGLEC14', 'score': 9.7}, {'connected_gene': 'ENSG00000268595', 'score': 5.85}, {'connected_gene': 'LOC100420904', 'score': 0.39}, {'connected_gene': 'IGLON5', 'score': 0.37}, {'connected_gene': 'LINC01872', 'score': 0.34}]
chr19 GH19I051349 51349465 51353328 1.01 [{'connected_gene': 'VSIG10L', 'score': 14.24}, {'connected_gene': 'SIGLEC8', 'score': 10.73}, {'connected_gene': 'SIGLEC14', 'score': 10.01}, {'connected_gene': 'RPL7P51', 'score': 10.01}, {'connected_gene': 'SIGLEC5', 'score': 10.01}, {'connected_gene': 'IGLON5', 'score': 9.55}, {'connected_gene': 'NKG7', 'score': 5.52}, {'connected_gene': 'ENSG00000267984', 'score': 0.44}, {'connected_gene': 'ENSG00000268520', 'score': 0.39}, {'connected_gene': 'ETFB', 'score': 0.37}, {'connected_gene': 'ENSG00000269403', 'score': 0.37}]
chr19 GH19I051344 51342627 51342776 0.49 [{'connected_gene': 'VSIG10L', 'score': 559.94}, {'connected_gene': 'ENSG00000267905', 'score': 0.77}, {'connected_gene': 'ENSG00000267984', 'score': 0.77}]
chr19 GH19I051338 51338387 51341183 1.55 [{'connected_gene': 'ENSG00000267905', 'score': 550.77}, {'connected_gene': 'ZNF841', 'score': 30.11}, {'connected_gene': 'ZNF577', 'score': 27.07}, {'connected_gene': 'POLD1', 'score': 26.43}, {'connected_gene': 'ZNF616', 'score': 26.07}, {'connected_gene': 'ZNF175', 'score': 23.22}, {'connected_gene': 'ZNF480', 'score': 20.77}, {'connected_gene': 'ZNF766', 'score': 20.09}, {'connected_gene': 'ZNF350', 'score': 19.83}, {'connected_gene': 'ZNF836', 'score': 12.72}, {'connected_gene': 'ZNF613', 'score': 12.32}, {'connected_gene': 'CLDND2', 'score': 12.16}, {'connected_gene': 'ETFB', 'score': 12.16}, {'connected_gene': 'NKG7', 'score': 12.14}, {'connected_gene': 'ZNF432', 'score': 11.75}, {'connected_gene': 'ZNF649', 'score': 11.42}, {'connected_gene': 'SIGLEC8', 'score': 10.79}, {'connected_gene': 'SIGLEC6', 'score': 10.72}, {'connected_gene': 'CEACAM18', 'score': 10.3}, {'connected_gene': 'VSIG10L', 'score': 10.19}, {'connected_gene': 'SIGLEC5', 'score': 9.97}, {'connected_gene': 'SIGLEC14', 'score': 9.97}, {'connected_gene': 'RPL7P51', 'score': 9.97}, {'connected_gene': 'LOC100419835', 'score': 9.78}, {'connected_gene': 'ENSG00000269102', 'score': 9.72}, {'connected_gene': 'GC19M051338', 'score': 0.44}]
chr19 GH19I051343 51343225 51343243 0.57 [{'connected_gene': 'ENSG00000267984', 'score': 550.77}, {'connected_gene': 'VSIG10L', 'score': 550.77}, {'connected_gene': 'ENSG00000267905', 'score': 0.77}]
chr19 GH19I051341 51341887 51342036 0.38 [{'connected_gene': 'ENSG00000267905', 'score': 550.77}, {'connected_gene': 'VSIG10L', 'score': 550.77}]
chr19 GH19I051342 51342129 51342188 0.73 [{'connected_gene': 'ENSG00000267905', 'score': 550.77}, {'connected_gene': 'VSIG10L', 'score': 550.77}, {'connected_gene': 'ENSG00000267984', 'score': 0.77}]