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
ENST00000602501 [[169921298, 169921609], [169922927, 169923229], [169926639, 169927359], [169929084, 169929195], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
ENST00000327239 [[169921298, 169921609], [169922927, 169923230], [169926639, 169927359], [169929084, 169929195], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
ENST00000357546 [[169923544, 169923777], [169925962, 169926227], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
ENST00000432060 [[169923586, 169923777], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952469]] [[169923656, 169923777], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
ENST00000428522 [[169926065, 169926227], [169937560, 169937662], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952672]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
ENST00000450153 [[169926071, 169926227], [169929084, 169929195], [169938032, 169938289]] [[169938091, 169938289]]
ENST00000421653 [[169926085, 169926227], [169938149, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]] [[169939966, 169940097], [169948299, 169948463], [169952053, 169952277]]
ENST00000436483 [[169929009, 169929195], [169930764, 169930976], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
ENST00000412271 [[169937616, 169937662], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
NM_001289763 [[169923544, 169923777], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169923656, 169923777], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
NM_199204 [[169923544, 169923777], [169925962, 169926227], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
NM_001142270 [[169929084, 169929195], [169930764, 169930976], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
NM_001142271 [[169937616, 169937662], [169938032, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952677]] [[169938091, 169938404], [169939838, 169940097], [169948299, 169948463], [169952053, 169952277]]
Promoter
Chrom Start End Description
chr2 169923504 169923517 CAGE_peak_12_at_DHRS9_5end
chr2 169923577 169923592 CAGE_peak_6_at_DHRS9_5end
chr2 169923651 169923667 CAGE_peak_7_at_DHRS9_5end
chr2 169923690 169923703 CAGE_peak_8_at_DHRS9_5end
chr2 169926030 169926035 CAGE_peak_10_at_DHRS9_5end
chr2 169926047 169926084 CAGE_peak_1_at_DHRS9_5end
chr2 169926089 169926100 CAGE_peak_5_at_DHRS9_5end
chr2 169926127 169926143 CAGE_peak_2_at_DHRS9_5end
chr2 169926149 169926160 CAGE_peak_4_at_DHRS9_5end
chr2 169938264 169938276 CAGE_peak_9_at_DHRS9_5end
chr2 169938317 169938331 CAGE_peak_3_at_DHRS9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I169095 169095401 169096200 1.1 [{'connected_gene': 'ABCB11', 'score': 10.27}, {'connected_gene': 'DHRS9', 'score': 8.58}, {'connected_gene': 'ENSG00000235321', 'score': 0.77}]
chr2 GH02I169083 169083001 169083600 0.43 [{'connected_gene': 'ABCB11', 'score': 11.15}, {'connected_gene': 'ENSG00000235321', 'score': 0.37}, {'connected_gene': 'DHRS9', 'score': 0.37}]
chr2 GH02I169104 169104686 169105014 0.38 [{'connected_gene': 'NOSTRIN', 'score': 3.48}, {'connected_gene': 'DHRS9', 'score': 2.0}, {'connected_gene': 'ENSG00000235321', 'score': 0.77}, {'connected_gene': 'UBE2V1P6', 'score': 0.39}]
chr2 GH02I169069 169069201 169074919 1.88 [{'connected_gene': 'DHRS9', 'score': 581.93}, {'connected_gene': 'PPIG', 'score': 12.97}, {'connected_gene': 'ENSG00000235321', 'score': 11.87}, {'connected_gene': 'ABCB11', 'score': 11.22}, {'connected_gene': 'PHOSPHO2', 'score': 9.71}]
chr2 GH02I169036 169036800 169037371 0.7 [{'connected_gene': 'DHRS9', 'score': 39.47}, {'connected_gene': 'ABCB11', 'score': 0.77}]
chr2 GH02I169037 169037999 169038829 1.22 [{'connected_gene': 'DHRS9', 'score': 24.98}, {'connected_gene': 'ABCB11', 'score': 0.77}]
chr2 GH02I169091 169091541 169092822 0.84 [{'connected_gene': 'DHRS9', 'score': 18.51}, {'connected_gene': 'ABCB11', 'score': 10.64}, {'connected_gene': 'ENSG00000235321', 'score': 0.44}]
chr2 GH02I169046 169046488 169047650 0.43 [{'connected_gene': 'DHRS9', 'score': 8.25}, {'connected_gene': 'ENSG00000235321', 'score': 6.58}, {'connected_gene': 'ABCB11', 'score': 0.39}]
chr2 GH02I169066 169066765 169068200 1.02 [{'connected_gene': 'DHRS9', 'score': 557.35}, {'connected_gene': 'ENSG00000235321', 'score': 11.85}, {'connected_gene': 'ABCB11', 'score': 11.24}]
chr2 GH02I169090 169090001 169090400 0.2 [{'connected_gene': 'DHRS9', 'score': 11.26}, {'connected_gene': 'ABCB11', 'score': 10.64}, {'connected_gene': 'ENSG00000235321', 'score': 0.39}]
chr2 GH02I169105 169105329 169108490 0.94 [{'connected_gene': 'DHRS9', 'score': 26.62}, {'connected_gene': 'UBE2V1P6', 'score': 0.44}, {'connected_gene': 'ENSG00000235321', 'score': 0.44}]
chr2 GH02I169047 169047931 169048057 0.2 [{'connected_gene': 'ENSG00000235321', 'score': 6.96}, {'connected_gene': 'ABCB11', 'score': 0.39}, {'connected_gene': 'DHRS9', 'score': 0.37}]
chr2 GH02I169080 169080001 169080800 0.63 [{'connected_gene': 'ENSG00000235321', 'score': 16.42}, {'connected_gene': 'ABCB11', 'score': 11.15}, {'connected_gene': 'DHRS9', 'score': 0.37}]
chr2 GH02I169050 169050473 169051392 1.13 [{'connected_gene': 'ENSG00000235321', 'score': 10.09}, {'connected_gene': 'DHRS9', 'score': 0.39}, {'connected_gene': 'ABCB11', 'score': 0.37}]