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
ENST00000263985 [[152591655, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682175]] [[152592325, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682134]]
ENST00000510396 [[152591989, 152592454], [152593760, 152597040]] None
ENST00000515564 [[152592000, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622608], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638226], [152640576, 152645632]] None
ENST00000515812 [[152592000, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682151]] [[152592325, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682134]]
ENST00000503160 [[152592014, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638153], [152640576, 152640690], [152679923, 152680074], [152681958, 152682082]] [[152638132, 152638153], [152640576, 152640690], [152679923, 152680074], [152681958, 152682082]]
ENST00000510720 [[152592039, 152592454], [152593913, 152594048], [152609781, 152609915], [152622480, 152622670]] [[152593975, 152594048], [152609781, 152609915], [152622480, 152622670]]
ENST00000507592 [[152592095, 152592454], [152593913, 152594048], [152600964, 152601043], [152608059, 152608235]] None
ENST00000513504 [[152592287, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152612809, 152612876]] None
ENST00000505211 [[152609888, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637396]] None
ENST00000515884 [[152622547, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152640576, 152640690], [152679923, 152680074], [152681958, 152682105]] [[152629241, 152629253], [152640576, 152640690], [152679923, 152680074], [152681958, 152682105]]
ENST00000511538 [[152624330, 152625047], [152626336, 152626421], [152629139, 152629253], [152640576, 152640690], [152679923, 152680074], [152681958, 152682122]] [[152629241, 152629253], [152640576, 152640690], [152679923, 152680074], [152681958, 152682122]]
ENST00000512306 [[152624493, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682137]] [[152624935, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682134]]
ENST00000515490 [[152626381, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638483]] None
ENST00000508611 [[152643097, 152643367], [152679923, 152680074], [152681958, 152682142]] [[152643346, 152643367], [152679923, 152680074], [152681958, 152682134]]
NM_004564 [[152591807, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682175]] [[152592325, 152592454], [152593913, 152594048], [152600964, 152601043], [152609781, 152609915], [152622480, 152622670], [152625002, 152625047], [152626336, 152626421], [152629139, 152629253], [152637160, 152637283], [152638027, 152638226], [152640576, 152640690], [152679923, 152680074], [152681958, 152682134]]
Promoter
Chrom Start End Description
chr4 152608318 152608329 CAGE_peak_10_at_PET112_5end
chr4 152608451 152608473 CAGE_peak_7_at_PET112_5end
chr4 152637329 152637339 CAGE_peak_8_at_PET112_5end
chr4 152637367 152637382 CAGE_peak_2_at_PET112_5end
chr4 152637386 152637403 CAGE_peak_3_at_PET112_5end
chr4 152638396 152638419 CAGE_peak_6_at_PET112_5end
chr4 152682129 152682170 CAGE_peak_1_at_PET112_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I151347 151347124 151348471 0.2 [{'connected_gene': 'FAM160A1', 'score': 12.92}, {'connected_gene': 'ENSG00000251603', 'score': 11.82}, {'connected_gene': 'GATB', 'score': 6.04}, {'connected_gene': 'ENSG00000270265', 'score': 0.44}, {'connected_gene': 'SH3D19', 'score': 0.34}]
chr4 GH04I151573 151573628 151574339 0.31 [{'connected_gene': 'GATB', 'score': 14.54}, {'connected_gene': 'FAM160A1', 'score': 5.46}, {'connected_gene': 'RN7SKP35', 'score': 0.77}, {'connected_gene': 'GC04M151467', 'score': 0.39}]
chr4 GH04I151658 151658920 151660133 0.51 [{'connected_gene': 'GATB', 'score': 13.76}, {'connected_gene': 'ENSG00000251455', 'score': 7.92}, {'connected_gene': 'PIR52940', 'score': 0.44}, {'connected_gene': 'GC04P151637', 'score': 0.34}, {'connected_gene': 'GC04M151651', 'score': 0.2}, {'connected_gene': 'FAM160A1', 'score': 0.07}]
chr4 GH04I151539 151539840 151542667 1.3 [{'connected_gene': 'GATB', 'score': 12.42}, {'connected_gene': 'GC04M151467', 'score': 0.37}, {'connected_gene': 'FAM160A1', 'score': 0.12}]
chr4 GH04I151760 151760069 151761725 2.03 [{'connected_gene': 'GATB', 'score': 570.41}, {'connected_gene': 'RPS3A', 'score': 13.14}, {'connected_gene': 'MIR4453HG', 'score': 10.43}, {'connected_gene': 'GC04P151731', 'score': 0.31}]
chr4 GH04I151583 151583847 151584962 0.31 [{'connected_gene': 'GATB', 'score': 14.28}, {'connected_gene': 'RN7SKP35', 'score': 0.44}, {'connected_gene': 'GC04M151611', 'score': 0.25}, {'connected_gene': 'FAM160A1', 'score': 0.1}]
chr4 GH04I151563 151563944 151564980 0.2 [{'connected_gene': 'GATB', 'score': 14.27}, {'connected_gene': 'GC04M151467', 'score': 0.77}, {'connected_gene': 'RN7SKP35', 'score': 0.39}, {'connected_gene': 'FAM160A1', 'score': 0.1}]
chr4 GH04I151810 151810639 151812198 0.38 [{'connected_gene': 'GATB', 'score': 7.14}, {'connected_gene': 'ENSG00000249184', 'score': 0.39}, {'connected_gene': 'ENSG00000249708', 'score': 0.18}]
chr4 GH04I151822 151822177 151823152 0.2 [{'connected_gene': 'GATB', 'score': 6.11}, {'connected_gene': 'ENSG00000249184', 'score': 0.34}, {'connected_gene': 'ENSG00000249708', 'score': 0.2}]
chr4 GH04I151685 151685109 151685893 0.2 [{'connected_gene': 'GATB', 'score': 19.85}, {'connected_gene': 'ENSG00000251455', 'score': 0.39}, {'connected_gene': 'GC04M151651', 'score': 0.28}]
chr4 GH04I151809 151809864 151809996 0.22 [{'connected_gene': 'GATB', 'score': 9.14}, {'connected_gene': 'ENSG00000249184', 'score': 0.39}, {'connected_gene': 'ENSG00000249708', 'score': 0.18}]
chr4 GH04I151806 151806014 151808458 1.01 [{'connected_gene': 'GATB', 'score': 16.51}, {'connected_gene': 'ENSG00000249184', 'score': 0.44}, {'connected_gene': 'ENSG00000249708', 'score': 0.18}]
chr4 GH04I151689 151689131 151693836 0.83 [{'connected_gene': 'GATB', 'score': 20.44}, {'connected_gene': 'ENSG00000251455', 'score': 7.86}, {'connected_gene': 'GC04M151651', 'score': 0.29}]
chr4 GH04I151742 151742485 151746526 1.12 [{'connected_gene': 'GATB', 'score': 14.82}, {'connected_gene': 'GC04P151731', 'score': 0.39}]
chr4 GH04I151752 151752762 151753984 0.31 [{'connected_gene': 'GATB', 'score': 0.44}, {'connected_gene': 'GC04P151731', 'score': 0.34}]
chr4 GH04I151312 151312555 151317785 0.8 [{'connected_gene': 'GC04P151316', 'score': 550.77}, {'connected_gene': 'FAM160A1', 'score': 13.47}, {'connected_gene': 'PRSS48', 'score': 11.43}, {'connected_gene': 'ENSG00000250350', 'score': 11.43}, {'connected_gene': 'GATB', 'score': 5.87}, {'connected_gene': 'ENSG00000251455', 'score': 4.94}, {'connected_gene': 'SH3D19', 'score': 0.39}, {'connected_gene': 'RNU6-1282P', 'score': 0.39}]
chr4 GH04I151665 151665020 151669941 0.54 [{'connected_gene': 'ENSG00000251603', 'score': 550.77}, {'connected_gene': 'PIR52940', 'score': 550.77}, {'connected_gene': 'GATB', 'score': 20.15}, {'connected_gene': 'ENSG00000251455', 'score': 8.18}, {'connected_gene': 'ENSG00000278978', 'score': 0.77}, {'connected_gene': 'GC04M151651', 'score': 0.22}, {'connected_gene': 'FAM160A1', 'score': 0.07}]
chr4 GH04I151675 151674309 151676989 0.78 [{'connected_gene': 'ENSG00000251455', 'score': 556.96}, {'connected_gene': 'GATB', 'score': 14.04}, {'connected_gene': 'GC04M151651', 'score': 0.25}]
chr4 GH04I151674 151674001 151674200 0.4 [{'connected_gene': 'ENSG00000251455', 'score': 550.77}, {'connected_gene': 'ENSG00000278978', 'score': 0.77}, {'connected_gene': 'GC04M151651', 'score': 0.23}, {'connected_gene': 'GATB', 'score': 0.17}]
chr4 GH04I151727 151727210 151728423 0.2 [{'connected_gene': 'GC04M151651', 'score': 0.77}, {'connected_gene': 'GC04P151731', 'score': 0.77}, {'connected_gene': 'GATB', 'score': 0.29}]
chr4 GH04I151671 151671533 151671669 0.87 [{'connected_gene': 'ENSG00000278978', 'score': 550.77}, {'connected_gene': 'ENSG00000251455', 'score': 0.77}, {'connected_gene': 'GC04M151651', 'score': 0.23}, {'connected_gene': 'GATB', 'score': 0.17}]
chr4 GH04I151694 151694864 151696001 0.31 [{'connected_gene': 'ENSG00000251455', 'score': 6.78}, {'connected_gene': 'GC04M151651', 'score': 0.31}, {'connected_gene': 'GATB', 'score': 0.2}]
chr4 GH04I151687 151687349 151687498 0.4 [{'connected_gene': 'ENSG00000251455', 'score': 0.39}, {'connected_gene': 'GC04M151651', 'score': 0.28}, {'connected_gene': 'GATB', 'score': 0.19}]
chr4 GH04I151728 151728769 151730968 0.81 [{'connected_gene': 'GC04P151731', 'score': 550.77}, {'connected_gene': 'GATB', 'score': 13.55}, {'connected_gene': 'GC04M151651', 'score': 0.77}]
chr4 GH04I151672 151671889 151672038 1.02 [{'connected_gene': 'ENSG00000278978', 'score': 0.77}, {'connected_gene': 'ENSG00000251455', 'score': 0.77}, {'connected_gene': 'GC04M151651', 'score': 0.23}, {'connected_gene': 'GATB', 'score': 0.17}]
chr4 GH04I151796 151796730 151800915 0.69 [{'connected_gene': 'ENSG00000249184', 'score': 550.77}, {'connected_gene': 'GATB', 'score': 13.06}]