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
ENST00000367657 [[176826437, 176826786], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177134003]] [[176826746, 176826786], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133812]]
ENST00000361833 [[176830202, 176833657], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133826]] [[176833419, 176833657], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133812]]
ENST00000367654 [[176830203, 176833657], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992515, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177134024]] [[176833419, 176833657], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992515, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133812]]
ENST00000424564 [[176837948, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133819]] [[176837975, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133812]]
ENST00000281881 [[176905189, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177134109]] None
ENST00000473640 [[176945188, 176946039], [176950550, 176950909], [176983926, 176984011], [176992539, 176992621], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001686]] None
NM_001286164 [[176826440, 176826786], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177134040]] [[176826746, 176826786], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133812]]
NM_004319 [[176830199, 176833657], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177134040]] [[176833419, 176833657], [176837979, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133812]]
NM_207108 [[176837953, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177134040]] [[176837975, 176838163], [176845672, 176845773], [176851994, 176852130], [176853474, 176853626], [176857206, 176857340], [176863697, 176863966], [176903287, 176903476], [176905401, 176905506], [176913026, 176913154], [176915061, 176915256], [176918320, 176918487], [176926813, 176926964], [176927480, 176927618], [176934298, 176934373], [176983926, 176984011], [176992539, 176992707], [176993718, 176993868], [176998769, 176998877], [176999941, 177000088], [177001591, 177001985], [177030213, 177030401], [177133529, 177133812]]
Promoter
Chrom Start End Description
chr1 177001712 177001726 CAGE_peak_12_at_ASTN1_5end
chr1 177001748 177001753 CAGE_peak_16_at_ASTN1_5end
chr1 177133810 177133817 CAGE_peak_9_at_ASTN1_5end
chr1 177133818 177133872 CAGE_peak_1_at_ASTN1_5end
chr1 177133945 177133956 CAGE_peak_8_at_ASTN1_5end
chr1 177133980 177133992 CAGE_peak_7_at_ASTN1_5end
chr1 177133998 177134018 CAGE_peak_3_at_ASTN1_5end
chr1 177134024 177134052 CAGE_peak_2_at_ASTN1_5end
chr1 177134053 177134069 CAGE_peak_4_at_ASTN1_5end
chr1 177134094 177134113 CAGE_peak_6_at_ASTN1_5end
chr1 177134234 177134239 CAGE_peak_14_at_ASTN1_5end
chr1 177134324 177134342 CAGE_peak_5_at_ASTN1_5end
chr1 177134348 177134360 CAGE_peak_10_at_ASTN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I177177 177177352 177177695 0.33 [{'connected_gene': 'BRINP2', 'score': 3.55}, {'connected_gene': 'ASTN1', 'score': 2.62}, {'connected_gene': 'LOC105371625', 'score': 0.18}]
chr1 GH01I177181 177181212 177182361 1.3 [{'connected_gene': 'BRINP2', 'score': 4.43}, {'connected_gene': 'ASTN1', 'score': 3.81}, {'connected_gene': 'LOC105371625', 'score': 0.19}]
chr1 GH01I177186 177186373 177186435 0.24 [{'connected_gene': 'BRINP2', 'score': 3.24}, {'connected_gene': 'ASTN1', 'score': 1.83}, {'connected_gene': 'LOC105371625', 'score': 0.2}]
chr1 GH01I177208 177208700 177210428 1.33 [{'connected_gene': 'BRINP2', 'score': 16.18}, {'connected_gene': 'ASTN1', 'score': 10.81}, {'connected_gene': 'LOC105371625', 'score': 0.25}]
chr1 GH01I176816 176816345 176816494 0.31 [{'connected_gene': 'MIR488', 'score': 10.02}, {'connected_gene': 'ASTN1', 'score': 10.0}, {'connected_gene': 'GC01M176762', 'score': 0.34}, {'connected_gene': 'GC01P176674', 'score': 0.11}, {'connected_gene': 'PAPPA2', 'score': 0.05}]
chr1 GH01I176815 176815785 176815934 0.2 [{'connected_gene': 'MIR488', 'score': 10.02}, {'connected_gene': 'ASTN1', 'score': 10.0}, {'connected_gene': 'GC01M176762', 'score': 0.34}, {'connected_gene': 'GC01P176674', 'score': 0.11}, {'connected_gene': 'PAPPA2', 'score': 0.05}]
chr1 GH01I177044 177044200 177045154 0.31 [{'connected_gene': 'MIR488', 'score': 0.37}, {'connected_gene': 'ASTN1', 'score': 0.13}]
chr1 GH01I176995 176995136 176995246 0.33 [{'connected_gene': 'ASTN1', 'score': 12.05}, {'connected_gene': 'MIR488', 'score': 10.89}, {'connected_gene': 'GC01M177011', 'score': 0.37}, {'connected_gene': 'GC01M176931', 'score': 0.21}]
chr1 GH01I177165 177164697 177164756 0.99 [{'connected_gene': 'ASTN1', 'score': 550.77}, {'connected_gene': 'MIR488', 'score': 0.12}]
chr1 GH01I177164 177164894 177164953 0.9 [{'connected_gene': 'ASTN1', 'score': 550.77}, {'connected_gene': 'MIR488', 'score': 0.12}]
chr1 GH01I176867 176867508 176867880 0.22 [{'connected_gene': 'ASTN1', 'score': 1.27}, {'connected_gene': 'GC01P176882', 'score': 0.39}, {'connected_gene': 'GC01P176843', 'score': 0.34}]
chr1 GH01I176837 176837476 176837491 0.22 [{'connected_gene': 'GC01M176762', 'score': 550.77}, {'connected_gene': 'BRINP2', 'score': 5.82}, {'connected_gene': 'ASTN1', 'score': 4.09}, {'connected_gene': 'GC01P176674', 'score': 0.1}, {'connected_gene': 'PAPPA2', 'score': 0.05}]
chr1 GH01I176857 176857628 176858908 0.71 [{'connected_gene': 'GC01P176843', 'score': 0.37}, {'connected_gene': 'GC01P176882', 'score': 0.34}, {'connected_gene': 'ASTN1', 'score': 0.06}]
chr1 GH01I177020 177020598 177021941 0.2 [{'connected_gene': 'GC01P177029', 'score': 0.44}, {'connected_gene': 'GC01M177011', 'score': 0.44}, {'connected_gene': 'ASTN1', 'score': 0.11}]
chr1 GH01I176897 176897601 176898000 0.73 [{'connected_gene': 'GC01P176882', 'score': 0.37}, {'connected_gene': 'GC01M176931', 'score': 0.29}, {'connected_gene': 'ASTN1', 'score': 0.06}]
chr1 GH01I176881 176881065 176881214 0.8 [{'connected_gene': 'GC01P176882', 'score': 550.77}, {'connected_gene': 'GC01M176931', 'score': 0.23}, {'connected_gene': 'ASTN1', 'score': 0.06}]

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