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
ENST00000312584 [[22993100, 22995516], [22995700, 22995773], [23001962, 23002148], [23002570, 23002602], [23003180, 23003434], [23004473, 23004585], [23005950, 23006064], [23012386, 23012492], [23021298, 23021543]] [[22995382, 22995516], [22995700, 22995773], [23001962, 23002148], [23002570, 23002602], [23003180, 23003434], [23004473, 23004585], [23005950, 23006064], [23012386, 23012492], [23021298, 23021448]]
NM_003840 [[22993100, 22995516], [22995700, 22995773], [23001962, 23002148], [23002570, 23002602], [23003180, 23003434], [23004473, 23004585], [23005950, 23006064], [23012386, 23012492], [23021298, 23021543]] [[22995382, 22995516], [22995700, 22995773], [23001962, 23002148], [23002570, 23002602], [23003180, 23003434], [23004473, 23004585], [23005950, 23006064], [23012386, 23012492], [23021298, 23021448]]
Promoter
Chrom Start End Description
chr8 23021533 23021549 CAGE_peak_1_at_TNFRSF10D_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I023171 23171368 23172149 0.78 [{'connected_gene': 'CHMP7', 'score': 12.79}, {'connected_gene': 'R3HCC1', 'score': 11.36}, {'connected_gene': 'TNFRSF10D', 'score': 0.44}, {'connected_gene': 'TNFRSF10A-AS1', 'score': 0.37}]
chr8 GH08I023180 23180202 23183081 1.51 [{'connected_gene': 'TNFRSF10A', 'score': 12.79}, {'connected_gene': 'LOC389641', 'score': 12.79}, {'connected_gene': 'ENSG00000250714', 'score': 11.83}, {'connected_gene': 'CHMP7', 'score': 10.75}, {'connected_gene': 'R3HCC1', 'score': 10.71}, {'connected_gene': 'ENTPD4', 'score': 1.64}, {'connected_gene': 'TNFRSF10D', 'score': 1.47}, {'connected_gene': 'TNFRSF10A-AS1', 'score': 0.44}]
chr8 GH08I023158 23158893 23159055 0.23 [{'connected_gene': 'TNFRSF10C', 'score': 16.12}, {'connected_gene': 'ENSG00000250714', 'score': 11.07}, {'connected_gene': 'ENTPD4', 'score': 5.15}, {'connected_gene': 'BIN3', 'score': 2.98}, {'connected_gene': 'TNFRSF10D', 'score': 0.44}, {'connected_gene': 'GC08P023143', 'score': 0.37}]
chr8 GH08I023159 23159833 23164944 2.49 [{'connected_gene': 'TNFRSF10D', 'score': 557.76}, {'connected_gene': 'ENSG00000253200', 'score': 47.32}, {'connected_gene': 'ENTPD4', 'score': 31.4}, {'connected_gene': 'C8orf58', 'score': 28.97}, {'connected_gene': 'POLR3D', 'score': 24.37}, {'connected_gene': 'CCAR2', 'score': 22.78}, {'connected_gene': 'BIN3', 'score': 13.46}, {'connected_gene': 'CHMP7', 'score': 12.77}, {'connected_gene': 'TNFRSF10A', 'score': 11.98}, {'connected_gene': 'LOC389641', 'score': 11.98}, {'connected_gene': 'ENSG00000250714', 'score': 11.88}, {'connected_gene': 'TNFRSF10C', 'score': 11.59}, {'connected_gene': 'R3HCC1', 'score': 11.35}, {'connected_gene': 'SORBS3', 'score': 11.29}, {'connected_gene': 'LOC107986927', 'score': 10.64}, {'connected_gene': 'LOXL2', 'score': 10.36}, {'connected_gene': 'ENSG00000253390', 'score': 10.34}, {'connected_gene': 'TNFRSF10B', 'score': 6.08}, {'connected_gene': 'GC08P023143', 'score': 0.37}]
chr8 GH08I023350 23350602 23357864 1.55 [{'connected_gene': 'LOXL2', 'score': 9.81}, {'connected_gene': 'ENTPD4', 'score': 8.2}, {'connected_gene': 'SLC25A37', 'score': 5.11}, {'connected_gene': 'TNFRSF10D', 'score': 2.81}, {'connected_gene': 'LOC100507156', 'score': 0.37}, {'connected_gene': 'PIR45078', 'score': 0.29}]
chr8 GH08I023174 23174526 23178458 1.41 [{'connected_gene': 'LOC389641', 'score': 16.82}, {'connected_gene': 'CHMP7', 'score': 12.27}, {'connected_gene': 'TNFRSF10A', 'score': 11.98}, {'connected_gene': 'ENSG00000250714', 'score': 11.82}, {'connected_gene': 'R3HCC1', 'score': 11.27}, {'connected_gene': 'TNFRSF10C', 'score': 11.22}, {'connected_gene': 'TNFRSF10D', 'score': 2.76}, {'connected_gene': 'TNFRSF10B', 'score': 1.91}, {'connected_gene': 'TNFRSF10A-AS1', 'score': 0.39}]