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
ENST00000368141 [[158801106, 158801347], [158811923, 158812208], [158813068, 158813205], [158813744, 158813912], [158815376, 158815793], [158817517, 158817706], [158818979, 158819294]] [[158811943, 158812208], [158813068, 158813205], [158813744, 158813912], [158815376, 158815793], [158817517, 158817706], [158818979, 158819027]]
ENST00000491210 [[158801140, 158801347], [158811923, 158812513]] None
ENST00000438394 [[158815690, 158815793], [158817517, 158817679], [158818979, 158819296]] [[158815690, 158815793], [158817517, 158817679], [158818979, 158819027]]
NM_002432 [[158801167, 158801347], [158811923, 158812208], [158813068, 158813205], [158813744, 158813912], [158815376, 158815793], [158817517, 158817706], [158818979, 158819270]] [[158811943, 158812208], [158813068, 158813205], [158813744, 158813912], [158815376, 158815793], [158817517, 158817706], [158818979, 158819027]]
Promoter
Chrom Start End Description
chr1 158801095 158801178 CAGE_peak_1_at_MNDA_5end
chr1 158801181 158801192 CAGE_peak_3_at_MNDA_5end
chr1 158801195 158801202 CAGE_peak_5_at_MNDA_5end
chr1 158801209 158801216 CAGE_peak_2_at_MNDA_5end
chr1 158801218 158801220 CAGE_peak_9_at_MNDA_5end
chr1 158801238 158801255 CAGE_peak_4_at_MNDA_5end
chr1 158815389 158815400 CAGE_peak_11_at_MNDA_5end
chr1 158815444 158815459 CAGE_peak_8_at_MNDA_5end
chr1 158815524 158815535 CAGE_peak_7_at_MNDA_5end
chr1 158815588 158815607 CAGE_peak_6_at_MNDA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I158808 158808601 158811200 0.79 [{'connected_gene': 'OR10AA1P', 'score': 550.77}, {'connected_gene': 'MNDA', 'score': 14.81}, {'connected_gene': 'OR6N2', 'score': 11.29}, {'connected_gene': 'OR6N1', 'score': 10.41}, {'connected_gene': 'OR6K2', 'score': 9.47}, {'connected_gene': 'PYHIN1', 'score': 1.82}, {'connected_gene': 'IFI16', 'score': 1.23}]
chr1 GH01I158811 158811801 158814000 0.4 [{'connected_gene': 'OR6N2', 'score': 10.46}, {'connected_gene': 'MNDA', 'score': 4.72}, {'connected_gene': 'OR10AA1P', 'score': 0.77}]
chr1 GH01I159084 159084401 159085290 0.79 [{'connected_gene': 'MNDA', 'score': 24.13}, {'connected_gene': 'AIM2', 'score': 8.13}, {'connected_gene': 'IFI16', 'score': 2.69}, {'connected_gene': 'RAD1P2', 'score': 0.77}, {'connected_gene': 'GC01M159143', 'score': 0.22}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.22}]
chr1 GH01I158818 158818401 158820469 1.61 [{'connected_gene': 'MNDA', 'score': 17.09}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'PYHIN1', 'score': 1.31}, {'connected_gene': 'IFI16', 'score': 1.21}, {'connected_gene': 'OR10AA1P', 'score': 0.39}]
chr1 GH01I158829 158829961 158833736 1.83 [{'connected_gene': 'MNDA', 'score': 550.77}, {'connected_gene': 'OR6N2', 'score': 9.97}, {'connected_gene': 'PYHIN5P', 'score': 0.25}]
chr1 GH01I158834 158834201 158840800 1.07 [{'connected_gene': 'MNDA', 'score': 8.57}, {'connected_gene': 'IFI16', 'score': 1.24}, {'connected_gene': 'PYHIN5P', 'score': 0.26}]
chr1 GH01I158800 158800201 158804400 1 [{'connected_gene': 'MNDA', 'score': 25.29}, {'connected_gene': 'OR6N1', 'score': 11.2}, {'connected_gene': 'OR6N2', 'score': 11.09}, {'connected_gene': 'PYHIN1', 'score': 1.75}, {'connected_gene': 'IFI16', 'score': 1.35}, {'connected_gene': 'OR2AQ1P', 'score': 0.44}, {'connected_gene': 'OR10AA1P', 'score': 0.44}]
chr1 GH01I158845 158845311 158848714 0.31 [{'connected_gene': 'MNDA', 'score': 11.41}, {'connected_gene': 'OR6N1', 'score': 10.51}, {'connected_gene': 'OR6N2', 'score': 10.42}, {'connected_gene': 'OR10X1', 'score': 9.8}, {'connected_gene': 'ELL2P1', 'score': 4.95}, {'connected_gene': 'PYHIN5P', 'score': 0.29}]
chr1 GH01I159024 159024897 159025358 0.49 [{'connected_gene': 'OR6N1', 'score': 3.98}, {'connected_gene': 'OR6K3', 'score': 3.46}, {'connected_gene': 'FCER1A', 'score': 3.11}, {'connected_gene': 'OR6N2', 'score': 2.63}, {'connected_gene': 'OR10Z1', 'score': 2.59}, {'connected_gene': 'IFI16', 'score': 2.2}, {'connected_gene': 'OR10X1', 'score': 2.02}, {'connected_gene': 'OR6P1', 'score': 1.48}, {'connected_gene': 'MNDA', 'score': 1.27}, {'connected_gene': 'GC01M159011', 'score': 0.39}, {'connected_gene': 'LOC105371461', 'score': 0.29}]