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
ENST00000451384 [[98286208, 98286297], [98287793, 98287962], [98290918, 98291020], [98292093, 98292184], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98317616, 98317767], [98319131, 98319519]] None
ENST00000458149 [[98286238, 98286297], [98287653, 98287769], [98290918, 98291020], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98317616, 98317767], [98319131, 98319167]] None
ENST00000597941 [[98286255, 98286297], [98287052, 98287152], [98287793, 98288037], [98290918, 98291020], [98292093, 98292184], [98292307, 98292391], [98305357, 98305403]] None
ENST00000596529 [[98286255, 98286297], [98287793, 98288037], [98290918, 98291020], [98292093, 98292184], [98292307, 98292391], [98305357, 98305456]] None
ENST00000598144 [[98286255, 98286297], [98287682, 98287769], [98290918, 98291020], [98292093, 98292184], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315577]] None
ENST00000599015 [[98286255, 98286297], [98287656, 98287769], [98290918, 98291020], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599]] None
ENST00000600331 [[98286255, 98286297], [98287793, 98287962], [98290918, 98291020], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98317616, 98317674]] None
ENST00000601499 [[98286255, 98286297], [98287793, 98288037], [98290918, 98291020], [98292307, 98292391], [98306718, 98306790], [98315488, 98315599], [98317616, 98317674]] None
ENST00000598824 [[98286255, 98286297], [98287656, 98287769], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98317616, 98317760]] None
ENST00000601580 [[98286255, 98286297], [98287793, 98287962], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98317616, 98317767]] None
ENST00000596069 [[98286255, 98286297], [98287793, 98287962], [98290918, 98291020], [98292093, 98292184], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98319131, 98319188]] None
ENST00000599501 [[98286255, 98286297], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98317616, 98317767], [98319131, 98319237]] None
ENST00000595492 [[98286255, 98286297], [98287793, 98287962], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98319131, 98319278]] None
ENST00000595588 [[98286255, 98286297], [98287793, 98287962], [98290918, 98291020], [98292307, 98292391], [98305357, 98305456], [98315488, 98315599], [98319131, 98319281]] None
ENST00000599435 [[98286255, 98286297], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98319131, 98319424]] None
ENST00000597654 [[98286255, 98286297], [98315488, 98315599], [98317616, 98317767], [98319131, 98319517]] None
ENST00000598737 [[98286255, 98286297], [98292307, 98292391], [98315488, 98315599], [98319131, 98319523]] None
ENST00000601509 [[98286255, 98286297], [98287793, 98287962], [98290918, 98291020], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98315488, 98315599], [98319131, 98319527]] None
ENST00000600606 [[98286262, 98286297], [98287656, 98287769], [98292307, 98292391], [98306718, 98306790], [98315488, 98315599], [98317616, 98317767], [98319131, 98319293]] None
ENST00000599959 [[98287837, 98287962], [98290918, 98291020], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98310909, 98311062], [98315488, 98315595]] None
ENST00000594273 [[98290790, 98291020], [98292307, 98292391], [98305357, 98305456], [98306718, 98306790], [98310909, 98311041]] None
ENST00000445382 [[98292283, 98292391], [98306718, 98306790], [98310909, 98311062], [98315488, 98315599], [98319131, 98319487]] None
ENST00000450072 [[98280679, 98280935], [98282265, 98282403], [98290918, 98291020], [98292093, 98292184]] None
ENST00000604793 [[98280701, 98280935], [98282286, 98282383], [98287052, 98287152], [98287793, 98287845]] None
ENST00000605282 [[98280701, 98280935], [98283366, 98283517], [98287052, 98287975]] None
ENST00000603172 [[98280701, 98280935], [98283366, 98283517], [98287052, 98287168], [98287793, 98288023]] None
ENST00000604986 [[98280709, 98280935], [98286152, 98286297], [98287435, 98287837]] None
ENST00000605866 [[98280709, 98280935], [98283366, 98283517], [98284426, 98284536], [98287052, 98287152], [98287793, 98288192]] None
ENST00000609622 [[98280723, 98280935], [98282265, 98282403], [98287793, 98288169]] None
ENST00000609604 [[98280723, 98280935], [98283366, 98283517], [98287052, 98287152], [98287435, 98287609], [98287793, 98288192]] None
ENST00000609703 [[98280734, 98280935], [98286152, 98286297], [98287793, 98288169]] None
ENST00000605017 [[98282265, 98282403], [98287435, 98287826]] None
ENST00000609295 [[98283419, 98283517], [98287052, 98287152], [98287435, 98288169]] None
ENST00000608777 [[98285110, 98285585], [98287052, 98287152], [98287793, 98288165]] None
ENST00000609004 [[98285642, 98286297], [98287793, 98288169]] None
ENST00000601127 [[98286175, 98286297], [98287028, 98287168], [98287656, 98287769], [98287863, 98288192]] None
ENST00000428157 [[98286205, 98286297], [98287793, 98288251]] None
ENST00000596356 [[98286261, 98286297], [98290918, 98291020], [98292093, 98292184], [98292307, 98292391], [98293881, 98294218]] None
ENST00000609418 [[98286645, 98287152], [98287793, 98288192]] None
ENST00000603835 [[98305387, 98305456], [98306718, 98306790], [98315488, 98315599], [98317616, 98317767], [98318523, 98318630], [98319131, 98319378]] None
ENST00000599666 [[98307454, 98307613], [98314381, 98314567], [98315488, 98315599], [98317616, 98317638]] None
ENST00000596740 [[98310918, 98311062], [98315488, 98315599], [98317616, 98317767], [98319131, 98319503]] None
ENST00000605331 [[98310994, 98311062], [98315488, 98315599], [98317616, 98317767], [98318523, 98318630], [98319131, 98319324]] None
Promoter
Chrom Start End Description
chr2 98286170 98286181 CAGE_peak_1_at_LOC728537_5end
chr2 98286202 98286210 CAGE_peak_2_at_LOC728537_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I097653 97653614 97655033 0.56 [{'connected_gene': 'ZAP70', 'score': 22.25}, {'connected_gene': 'C2orf92', 'score': 5.44}, {'connected_gene': 'PIR38581', 'score': 0.44}, {'connected_gene': 'ACTR1B', 'score': 0.44}]
chr2 GH02I097751 97751515 97751703 0.38 [{'connected_gene': 'ZAP70', 'score': 13.6}, {'connected_gene': 'RNU4-8P', 'score': 10.76}, {'connected_gene': 'C2orf92', 'score': 10.76}, {'connected_gene': 'ACTR1B', 'score': 10.76}, {'connected_gene': 'VWA3B', 'score': 10.13}, {'connected_gene': 'TMEM131', 'score': 3.27}, {'connected_gene': 'ANKRD36B', 'score': 1.67}, {'connected_gene': 'HMGN1P36', 'score': 0.18}]
chr2 GH02I097712 97712403 97720047 2.07 [{'connected_gene': 'ZAP70', 'score': 588.02}, {'connected_gene': 'ANKRD36B', 'score': 24.23}, {'connected_gene': 'LMAN2L', 'score': 16.66}, {'connected_gene': 'UNC50', 'score': 15.92}, {'connected_gene': 'ACTR1B', 'score': 14.15}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'CNNM3', 'score': 11.55}, {'connected_gene': 'SEMA4C', 'score': 10.54}, {'connected_gene': 'TMEM131', 'score': 9.76}, {'connected_gene': 'FAHD2B', 'score': 7.66}, {'connected_gene': 'C2orf92', 'score': 6.92}, {'connected_gene': 'COX5B', 'score': 4.93}, {'connected_gene': 'ENSG00000235833', 'score': 4.09}, {'connected_gene': 'HMGN1P36', 'score': 0.14}]
chr2 GH02I097723 97723874 97723933 0.7 [{'connected_gene': 'ZAP70', 'score': 550.39}, {'connected_gene': 'ANKRD36B', 'score': 13.32}, {'connected_gene': 'COX5B', 'score': 10.99}, {'connected_gene': 'RNU4-8P', 'score': 10.64}, {'connected_gene': 'ACTR1B', 'score': 10.64}, {'connected_gene': 'C2orf92', 'score': 10.64}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097730 97730139 97732728 0.31 [{'connected_gene': 'C2orf92', 'score': 17.05}, {'connected_gene': 'RNU4-8P', 'score': 10.83}, {'connected_gene': 'ACTR1B', 'score': 10.83}, {'connected_gene': 'COX5B', 'score': 10.52}, {'connected_gene': 'ZAP70', 'score': 0.37}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097907 97907746 97908271 0.82 [{'connected_gene': 'C2orf92', 'score': 4.02}, {'connected_gene': 'GC02M097914', 'score': 0.44}, {'connected_gene': 'GC02P097828', 'score': 0.18}, {'connected_gene': 'TMEM131', 'score': 0.17}]
chr2 GH02I097660 97660310 97665277 2.28 [{'connected_gene': 'C2orf92', 'score': 555.77}, {'connected_gene': 'ACTR1B', 'score': 550.77}, {'connected_gene': 'GC02M097664', 'score': 550.77}, {'connected_gene': 'ANKRD36B', 'score': 33.17}, {'connected_gene': 'ZAP70', 'score': 23.05}, {'connected_gene': 'TMEM131', 'score': 10.75}, {'connected_gene': 'UNC50', 'score': 9.75}, {'connected_gene': 'LOC100506123', 'score': 7.87}, {'connected_gene': 'RNU4-8P', 'score': 0.77}, {'connected_gene': 'PIR38581', 'score': 0.37}]
chr2 GH02I097697 97697001 97697605 1.02 [{'connected_gene': 'ANKRD36B', 'score': 4.18}, {'connected_gene': 'ZAP70', 'score': 0.37}, {'connected_gene': 'PIR53529', 'score': 0.34}, {'connected_gene': 'C2orf92', 'score': 0.29}]
chr2 GH02I097691 97691298 97691447 0.38 [{'connected_gene': 'ANKRD36B', 'score': 29.53}, {'connected_gene': 'PIR53529', 'score': 0.37}, {'connected_gene': 'ZAP70', 'score': 0.34}, {'connected_gene': 'C2orf92', 'score': 0.31}]
chr2 GH02I097759 97759180 97762318 0.58 [{'connected_gene': 'ANKRD36B', 'score': 13.87}, {'connected_gene': 'ZAP70', 'score': 11.86}, {'connected_gene': 'RNU4-8P', 'score': 10.74}, {'connected_gene': 'C2orf92', 'score': 10.74}, {'connected_gene': 'ACTR1B', 'score': 10.74}, {'connected_gene': 'VWA3B', 'score': 10.13}, {'connected_gene': 'LOC100506123', 'score': 6.6}, {'connected_gene': 'HMGN1P36', 'score': 0.2}, {'connected_gene': 'TMEM131', 'score': 0.07}]
chr2 GH02I097848 97848027 97850829 0.74 [{'connected_gene': 'ANKRD36B', 'score': 8.16}, {'connected_gene': 'C2orf92', 'score': 4.85}, {'connected_gene': 'TMEM131', 'score': 4.07}, {'connected_gene': 'GC02P097828', 'score': 0.34}, {'connected_gene': 'GC02M097914', 'score': 0.21}]
chr2 GH02I097588 97588600 97591567 1.97 [{'connected_gene': 'ANKRD36B', 'score': 597.48}, {'connected_gene': 'COX5B', 'score': 12.25}, {'connected_gene': 'RNU4-8P', 'score': 12.07}, {'connected_gene': 'ACTR1B', 'score': 12.07}, {'connected_gene': 'C2orf92', 'score': 12.07}, {'connected_gene': 'ZAP70', 'score': 12.0}, {'connected_gene': 'PIR49158', 'score': 0.44}]
chr2 GH02I096866 96866249 96871522 2.24 [{'connected_gene': 'SEMA4C', 'score': 560.88}, {'connected_gene': 'ANKRD36', 'score': 10.54}, {'connected_gene': 'FAM178B', 'score': 5.95}, {'connected_gene': 'LMAN2L', 'score': 5.94}, {'connected_gene': 'SNRNP200', 'score': 5.58}, {'connected_gene': 'GPAT2P2', 'score': 4.86}, {'connected_gene': 'C2orf92', 'score': 4.57}, {'connected_gene': 'ANKRD36B', 'score': 4.55}, {'connected_gene': 'ANKRD39', 'score': 0.39}, {'connected_gene': 'GC02P096839', 'score': 0.31}]
chr2 GH02I097992 97992779 97997120 2.25 [{'connected_gene': 'TMEM131', 'score': 563.68}, {'connected_gene': 'ANKRD36B', 'score': 23.57}, {'connected_gene': 'UNC50', 'score': 15.92}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'ZAP70', 'score': 11.76}, {'connected_gene': 'ACTR1B', 'score': 7.29}, {'connected_gene': 'C2orf92', 'score': 4.79}, {'connected_gene': 'RNU7-96P', 'score': 0.18}]
chr2 GH02I097867 97867524 97872744 1.4 [{'connected_gene': 'TMEM131', 'score': 16.46}, {'connected_gene': 'RNU7-96P', 'score': 12.49}, {'connected_gene': 'ZAP70', 'score': 10.88}, {'connected_gene': 'ANKRD36B', 'score': 8.13}, {'connected_gene': 'C2orf92', 'score': 4.04}, {'connected_gene': 'GC02M097914', 'score': 0.26}, {'connected_gene': 'GC02P097828', 'score': 0.26}]
chr2 GH02I097966 97966801 97967127 1.11 [{'connected_gene': 'TMEM131', 'score': 12.11}, {'connected_gene': 'RNU7-96P', 'score': 11.92}, {'connected_gene': 'VWA3B', 'score': 9.64}, {'connected_gene': 'C2orf92', 'score': 4.19}]
chr2 GH02I097969 97969418 97970941 0.95 [{'connected_gene': 'TMEM131', 'score': 16.1}, {'connected_gene': 'RNU7-96P', 'score': 11.91}, {'connected_gene': 'VWA3B', 'score': 9.64}, {'connected_gene': 'ANKRD36B', 'score': 8.88}, {'connected_gene': 'C2orf92', 'score': 4.23}]
chr2 GH02I098010 98010201 98014162 1.54 [{'connected_gene': 'VWA3B', 'score': 10.57}, {'connected_gene': 'C2orf92', 'score': 5.57}, {'connected_gene': 'ZAP70', 'score': 4.89}, {'connected_gene': 'TMEM131', 'score': 2.08}, {'connected_gene': 'LOC105373501', 'score': 0.26}]
chr2 GH02I098058 98058804 98060377 0.46 [{'connected_gene': 'VWA3B', 'score': 11.82}, {'connected_gene': 'C2orf92', 'score': 4.16}, {'connected_gene': 'LOC105373501', 'score': 0.44}]
chr2 GH02I098333 98333553 98335475 0.95 [{'connected_gene': 'VWA3B', 'score': 10.11}, {'connected_gene': 'LOC105373502', 'score': 6.79}, {'connected_gene': 'C2orf92', 'score': 4.02}, {'connected_gene': 'CNGA3', 'score': 0.39}, {'connected_gene': 'GC02P098257', 'score': 0.18}]
chr2 GH02I097720 97720666 97721462 0.4 [{'connected_gene': 'COX5B', 'score': 10.87}, {'connected_gene': 'RNU4-8P', 'score': 10.6}, {'connected_gene': 'ACTR1B', 'score': 10.6}, {'connected_gene': 'C2orf92', 'score': 10.6}, {'connected_gene': 'ZAP70', 'score': 0.44}, {'connected_gene': 'HMGN1P36', 'score': 0.14}]
chr2 GH02I097644 97644775 97647542 2.22 [{'connected_gene': 'COX5B', 'score': 550.77}, {'connected_gene': 'PIR38581', 'score': 550.77}, {'connected_gene': 'ACTR1B', 'score': 31.82}, {'connected_gene': 'TMEM131', 'score': 20.32}, {'connected_gene': 'UNC50', 'score': 9.75}, {'connected_gene': 'LOC100506123', 'score': 7.8}, {'connected_gene': 'ANKRD36', 'score': 5.49}, {'connected_gene': 'C2orf92', 'score': 5.4}]
chr2 GH02I097979 97979429 97982100 0.31 [{'connected_gene': 'RNU7-96P', 'score': 11.27}, {'connected_gene': 'ZAP70', 'score': 10.68}, {'connected_gene': 'VWA3B', 'score': 9.91}, {'connected_gene': 'C2orf92', 'score': 4.86}, {'connected_gene': 'ANKRD36B', 'score': 4.6}, {'connected_gene': 'ANKRD36', 'score': 4.58}, {'connected_gene': 'TMEM131', 'score': 4.35}]
chr2 GH02I097949 97949945 97951960 0.94 [{'connected_gene': 'RNU7-96P', 'score': 12.01}, {'connected_gene': 'TMEM131', 'score': 11.99}, {'connected_gene': 'VWA3B', 'score': 10.31}, {'connected_gene': 'ACTR1B', 'score': 7.53}, {'connected_gene': 'ANKRD36', 'score': 4.56}, {'connected_gene': 'C2orf92', 'score': 4.19}]
chr2 GH02I098279 98279957 98281146 0.56 [{'connected_gene': 'LOC105373502', 'score': 20.81}, {'connected_gene': 'CNGA3', 'score': 10.78}, {'connected_gene': 'ENSG00000227987', 'score': 10.78}, {'connected_gene': 'VWA3B', 'score': 10.15}, {'connected_gene': 'C2orf92', 'score': 4.06}, {'connected_gene': 'GC02P098257', 'score': 0.34}]
chr2 GH02I097725 97725336 97728887 1.08 [{'connected_gene': 'ACTR1B', 'score': 19.98}, {'connected_gene': 'C2orf92', 'score': 16.63}, {'connected_gene': 'COX5B', 'score': 10.99}, {'connected_gene': 'RNU4-8P', 'score': 10.83}, {'connected_gene': 'ANKRD36B', 'score': 9.52}, {'connected_gene': 'LOC100506123', 'score': 5.08}, {'connected_gene': 'ZAP70', 'score': 0.39}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097673 97673121 97674379 1.26 [{'connected_gene': 'PIR32897', 'score': 550.77}, {'connected_gene': 'ANKRD36B', 'score': 33.25}, {'connected_gene': 'COX5B', 'score': 12.56}, {'connected_gene': 'ZAP70', 'score': 11.99}, {'connected_gene': 'FAHD2B', 'score': 7.47}, {'connected_gene': 'TMEM131', 'score': 2.2}, {'connected_gene': 'RNU4-8P', 'score': 0.44}, {'connected_gene': 'C2orf92', 'score': 0.44}]
chr2 GH02I097675 97675838 97675987 0.2 [{'connected_gene': 'PIR53529', 'score': 550.77}, {'connected_gene': 'PIR32897', 'score': 550.77}, {'connected_gene': 'COX5B', 'score': 12.38}, {'connected_gene': 'ZAP70', 'score': 11.99}, {'connected_gene': 'C2orf92', 'score': 0.39}]