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
ENST00000221132 [[23047964, 23049526], [23054644, 23054717], [23056778, 23056961], [23057398, 23057430], [23058017, 23058113], [23058199, 23058273], [23059320, 23059432], [23060160, 23060274], [23069628, 23069725], [23082268, 23082639]] [[23049206, 23049526], [23054644, 23054717], [23056778, 23056961], [23057398, 23057430], [23058017, 23058113], [23058199, 23058273], [23059320, 23059432], [23060160, 23060274], [23069628, 23069725], [23082268, 23082574]]
ENST00000524158 [[23057398, 23057430], [23058017, 23058113], [23058199, 23058273], [23059320, 23059432], [23060160, 23060274], [23069628, 23069725], [23081945, 23082113]] [[23057398, 23057430], [23058017, 23058113], [23058199, 23058273], [23059320, 23059343]]
ENST00000519862 [[23049326, 23049526], [23054644, 23054786]] None
NM_003844 [[23048969, 23049526], [23054644, 23054717], [23056778, 23056961], [23057398, 23057430], [23058017, 23058113], [23058199, 23058273], [23059320, 23059432], [23060160, 23060274], [23069628, 23069725], [23082268, 23082680]] [[23049206, 23049526], [23054644, 23054717], [23056778, 23056961], [23057398, 23057430], [23058017, 23058113], [23058199, 23058273], [23059320, 23059432], [23060160, 23060274], [23069628, 23069725], [23082268, 23082574]]
Promoter
Chrom Start End Description
chr8 23082580 23082657 CAGE_peak_1_at_TNFRSF10A_5end
chr8 23082897 23082963 CAGE_peak_2_at_TNFRSF10A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I023252 23252795 23253435 0.6 [{'connected_gene': 'CHMP7', 'score': 13.2}, {'connected_gene': 'TNFRSF10A', 'score': 13.11}, {'connected_gene': 'ENSG00000250714', 'score': 11.51}, {'connected_gene': 'LOC105379326', 'score': 0.44}]
chr8 GH08I023217 23217150 23222000 1.34 [{'connected_gene': 'CHMP7', 'score': 29.45}, {'connected_gene': 'ENSG00000253200', 'score': 20.65}, {'connected_gene': 'TNFRSF10A', 'score': 17.2}, {'connected_gene': 'LOC100507071', 'score': 12.56}, {'connected_gene': 'CCAR2', 'score': 12.52}, {'connected_gene': 'C8orf58', 'score': 12.29}, {'connected_gene': 'SORBS3', 'score': 12.01}, {'connected_gene': 'LOC107986927', 'score': 11.8}, {'connected_gene': 'TNFRSF10C', 'score': 11.05}, {'connected_gene': 'R3HCC1', 'score': 10.87}, {'connected_gene': 'ENTPD4', 'score': 10.47}, {'connected_gene': 'LOC100507156', 'score': 9.85}, {'connected_gene': 'LOC389641', 'score': 8.06}, {'connected_gene': 'TNFRSF10B', 'score': 1.55}, {'connected_gene': 'PIR52536', 'score': 0.39}]
chr8 GH08I023242 23242430 23247915 2.3 [{'connected_gene': 'CHMP7', 'score': 568.32}, {'connected_gene': 'SORBS3', 'score': 13.78}, {'connected_gene': 'TNFRSF10A', 'score': 12.23}, {'connected_gene': 'LOC105379326', 'score': 0.37}]
chr8 GH08I023240 23240825 23241720 0.58 [{'connected_gene': 'TNFRSF10A', 'score': 13.62}, {'connected_gene': 'CHMP7', 'score': 11.71}, {'connected_gene': 'ENSG00000250714', 'score': 0.39}]
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 GH08I023223 23223379 23226908 1.98 [{'connected_gene': 'TNFRSF10A', 'score': 597.0}, {'connected_gene': 'LOC389641', 'score': 550.77}, {'connected_gene': 'BIN3', 'score': 13.32}, {'connected_gene': 'CCAR2', 'score': 12.87}, {'connected_gene': 'ENSG00000253200', 'score': 11.61}, {'connected_gene': 'ENSG00000250714', 'score': 0.44}]
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 GH08I023222 23222248 23222381 0.38 [{'connected_gene': 'SLC25A37', 'score': 4.61}, {'connected_gene': 'TNFRSF10A', 'score': 0.77}, {'connected_gene': 'LOC389641', 'score': 0.77}, {'connected_gene': 'PIR52536', 'score': 0.39}]
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}]
chr8 GH08I023301 23301983 23307722 1.16 [{'connected_gene': 'R3HCC1', 'score': 20.74}, {'connected_gene': 'CHMP7', 'score': 17.55}, {'connected_gene': 'LOC100507156', 'score': 11.85}, {'connected_gene': 'TNFRSF10A', 'score': 11.35}, {'connected_gene': 'LOC389641', 'score': 11.34}, {'connected_gene': 'LOXL2', 'score': 7.34}, {'connected_gene': 'GC08P023294', 'score': 0.44}]
chr8 GH08I023300 23300368 23301557 0.58 [{'connected_gene': 'R3HCC1', 'score': 12.65}, {'connected_gene': 'CHMP7', 'score': 12.58}, {'connected_gene': 'LOC100507156', 'score': 11.95}, {'connected_gene': 'TNFRSF10A', 'score': 11.35}, {'connected_gene': 'LOC389641', 'score': 11.35}, {'connected_gene': 'LOXL2', 'score': 10.94}, {'connected_gene': 'GC08P023294', 'score': 0.44}]
chr8 GH08I023307 23307974 23308853 0.2 [{'connected_gene': 'LOC100507156', 'score': 11.86}, {'connected_gene': 'R3HCC1', 'score': 11.64}, {'connected_gene': 'CHMP7', 'score': 11.57}, {'connected_gene': 'TNFRSF10A', 'score': 11.34}, {'connected_gene': 'LOC389641', 'score': 11.34}, {'connected_gene': 'LOXL2', 'score': 4.84}, {'connected_gene': 'GC08P023294', 'score': 0.39}]
chr8 GH08I023230 23230379 23231558 1.07 [{'connected_gene': 'ENSG00000250714', 'score': 550.77}, {'connected_gene': 'TNFRSF10A', 'score': 40.9}, {'connected_gene': 'LOC389641', 'score': 0.44}, {'connected_gene': 'CHMP7', 'score': 0.39}]
chr8 GH08I023227 23227201 23227400 0.38 [{'connected_gene': 'ENSG00000250714', 'score': 0.77}, {'connected_gene': 'TNFRSF10A', 'score': 0.77}, {'connected_gene': 'LOC389641', 'score': 0.77}]