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
ENST00000264972 [[98330022, 98330137], [98330378, 98330457], [98340478, 98340901], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98349806], [98350006, 98350058], [98350982, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98356323]] [[98340499, 98340901], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98349806], [98350006, 98350058], [98350982, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98355961]]
ENST00000483781 [[98330044, 98330137], [98330378, 98330457], [98340478, 98340901], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98350245]] None
ENST00000463643 [[98340923, 98341147], [98341317, 98341356], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98349806], [98350006, 98350058], [98350982, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98356325]] None
ENST00000442208 [[98341332, 98341356], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98349806], [98350006, 98350058], [98350982, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98356323]] [[98341332, 98341356], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98349806], [98350006, 98350058], [98350982, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98355961]]
ENST00000498836 [[98349164, 98349484], [98349587, 98349675], [98349759, 98349887]] None
ENST00000487283 [[98349391, 98349484], [98349587, 98349675], [98349759, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98356322]] None
ENST00000451498 [[98350868, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98355961]] [[98351014, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98355961]]
ENST00000495754 [[98351692, 98351919], [98353935, 98354128], [98354219, 98354474]] None
ENST00000489250 [[98354284, 98354360], [98354457, 98355040]] None
NM_001079 [[98330030, 98330137], [98330378, 98330457], [98340478, 98340901], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98349806], [98350006, 98350058], [98350982, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98356323]] [[98340499, 98340901], [98341554, 98341715], [98349345, 98349484], [98349587, 98349675], [98349759, 98349806], [98350006, 98350058], [98350982, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98355961]]
NM_207519 [[98350868, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98356323]] [[98351014, 98351175], [98351712, 98351919], [98353935, 98354128], [98354219, 98354360], [98354457, 98354570], [98355837, 98355961]]
Promoter
Chrom Start End Description
chr2 98329652 98329687 CAGE_peak_9_at_ZAP70_5end
chr2 98329756 98329766 CAGE_peak_10_at_ZAP70_5end
chr2 98329858 98329869 CAGE_peak_7_at_ZAP70_5end
chr2 98330009 98330020 CAGE_peak_3_at_ZAP70_5end
chr2 98330032 98330054 CAGE_peak_1_at_ZAP70_5end
chr2 98330059 98330088 CAGE_peak_2_at_ZAP70_5end
chr2 98330089 98330094 CAGE_peak_6_at_ZAP70_5end
chr2 98330100 98330105 CAGE_peak_5_at_ZAP70_5end
chr2 98330111 98330118 CAGE_peak_4_at_ZAP70_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I097734 97734448 97734507 0.61 [{'connected_gene': 'ZAP70', 'score': 550.34}, {'connected_gene': 'HMGN1P36', 'score': 0.16}]
chr2 GH02I097745 97745583 97746164 0.97 [{'connected_gene': 'ZAP70', 'score': 0.29}, {'connected_gene': 'HMGN1P36', 'score': 0.18}]
chr2 GH02I097742 97742401 97742600 0.51 [{'connected_gene': 'ZAP70', 'score': 0.31}, {'connected_gene': 'HMGN1P36', 'score': 0.18}]
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 GH02I097711 97710625 97712004 0.92 [{'connected_gene': 'ZAP70', 'score': 6.99}, {'connected_gene': 'PIR53529', 'score': 0.28}]
chr2 GH02I097710 97710018 97710332 0.85 [{'connected_gene': 'ZAP70', 'score': 0.77}, {'connected_gene': 'PIR53529', 'score': 0.29}]
chr2 GH02I097806 97806838 97807007 0.76 [{'connected_gene': 'HMGN1P36', 'score': 0.34}, {'connected_gene': 'ZAP70', 'score': 0.16}, {'connected_gene': 'TMEM131', 'score': 0.09}]
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 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 GH02I097737 97737982 97738795 0.2 [{'connected_gene': 'ANKRD36B', 'score': 9.18}, {'connected_gene': 'ZAP70', 'score': 0.34}, {'connected_gene': 'HMGN1P36', 'score': 0.17}]
chr2 GH02I097740 97740541 97741127 1.24 [{'connected_gene': 'ANKRD36B', 'score': 7.58}, {'connected_gene': 'ZAP70', 'score': 0.31}, {'connected_gene': 'HMGN1P36', 'score': 0.17}]
chr2 GH02I097733 97733186 97734180 0.46 [{'connected_gene': 'ANKRD36B', 'score': 4.28}, {'connected_gene': 'ZAP70', 'score': 0.34}, {'connected_gene': 'HMGN1P36', 'score': 0.16}]
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 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 GH02I097746 97746573 97749007 1.33 [{'connected_gene': 'ANKRD36B', 'score': 15.09}, {'connected_gene': 'ACTR1B', 'score': 8.52}, {'connected_gene': 'TMEM131', 'score': 5.75}, {'connected_gene': 'ZAP70', 'score': 5.19}, {'connected_gene': 'HMGN1P36', 'score': 0.18}]
chr2 GH02I096872 96872657 96878802 1.25 [{'connected_gene': 'ANKRD36', 'score': 11.22}, {'connected_gene': 'LOC100506076', 'score': 11.06}, {'connected_gene': 'FAM178B', 'score': 9.28}, {'connected_gene': 'SNRNP200', 'score': 7.28}, {'connected_gene': 'ANKRD36B', 'score': 6.37}, {'connected_gene': 'ZAP70', 'score': 6.19}, {'connected_gene': 'ENSG00000235833', 'score': 5.51}, {'connected_gene': 'SEMA4C', 'score': 0.77}, {'connected_gene': 'GC02P096839', 'score': 0.28}, {'connected_gene': 'LOC101927053', 'score': 0.26}]
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 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 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 GH02I096879 96879954 96889493 1.53 [{'connected_gene': 'ARID5A', 'score': 11.51}, {'connected_gene': 'FAM178B', 'score': 11.33}, {'connected_gene': 'ANKRD36', 'score': 11.23}, {'connected_gene': 'LOC100506076', 'score': 11.06}, {'connected_gene': 'SNRNP200', 'score': 7.27}, {'connected_gene': 'ZAP70', 'score': 5.95}, {'connected_gene': 'ANKRD36B', 'score': 4.37}, {'connected_gene': 'FAHD2B', 'score': 4.21}, {'connected_gene': 'KANSL3', 'score': 3.49}, {'connected_gene': 'CNNM4', 'score': 1.39}, {'connected_gene': 'SEMA4C', 'score': 0.39}, {'connected_gene': 'LOC101927053', 'score': 0.29}]
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 GH02I096916 96916198 96921493 1.17 [{'connected_gene': 'LOC101927053', 'score': 550.77}, {'connected_gene': 'SNRNP200', 'score': 37.72}, {'connected_gene': 'KANSL3', 'score': 24.75}, {'connected_gene': 'CNNM3', 'score': 19.78}, {'connected_gene': 'CIAO1', 'score': 17.43}, {'connected_gene': 'STARD7-AS1', 'score': 10.84}, {'connected_gene': 'ANKRD36B', 'score': 10.71}, {'connected_gene': 'LMAN2L', 'score': 10.5}, {'connected_gene': 'FAM178B', 'score': 9.31}, {'connected_gene': 'ZAP70', 'score': 5.32}, {'connected_gene': 'SEMA4C', 'score': 0.25}]
chr2 GH02I097743 97743698 97745053 0.62 [{'connected_gene': 'ACTR1B', 'score': 8.46}, {'connected_gene': 'ZAP70', 'score': 0.29}, {'connected_gene': 'HMGN1P36', 'score': 0.18}]
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 GH02I097826 97826748 97827159 0.54 [{'connected_gene': 'GC02P097828', 'score': 550.77}, {'connected_gene': 'HMGN1P36', 'score': 550.77}, {'connected_gene': 'ZAP70', 'score': 0.14}, {'connected_gene': 'TMEM131', 'score': 0.1}]
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}]