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
ENST00000469702 [[114462587, 114463125], [114476730, 114476885], [114480680, 114480771]] None
ENST00000245680 [[114470368, 114472772], [114475329, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114514400]] [[114475351, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114513986]]
ENST00000409106 [[114471929, 114472618], [114472734, 114472772], [114475329, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114514270]] [[114475351, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114513453]]
ENST00000420066 [[114472223, 114472772], [114475329, 114475425], [114476730, 114476821]] [[114475400, 114475425], [114476730, 114476821]]
ENST00000459683 [[114475029, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483054]] None
ENST00000470204 [[114475329, 114475427], [114476730, 114476857], [114480680, 114480771], [114482954, 114483114], [114486977, 114487024]] None
ENST00000469314 [[114475357, 114475427], [114476730, 114477288]] None
ENST00000447673 [[114476788, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114490941, 114490980], [114492162, 114492250], [114493353, 114493433]] [[114476788, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114490941, 114490980], [114492162, 114492250], [114493353, 114493433]]
ENST00000485214 [[114480679, 114480771], [114482954, 114483439]] None
ENST00000409342 [[114499460, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114514197]] [[114500253, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114513453]]
ENST00000498768 [[114499485, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114514164]] None
ENST00000460863 [[114500176, 114500456], [114501289, 114501475]] None
NM_001330314 [[114464297, 114472772], [114475329, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114514270]] [[114475351, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114513453]]
NR_104470 [[114464297, 114472618], [114472734, 114472772], [114475329, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114514270]] None
NM_001330315 [[114464297, 114472772], [114475329, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114490941, 114490980], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114514400]] [[114475351, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114490941, 114490980], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114513986]]
NM_025181 [[114464297, 114472772], [114475329, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114514400]] [[114475351, 114475427], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114513986]]
NM_001330316 [[114464297, 114472772], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114514400]] [[114472720, 114472772], [114476730, 114476885], [114480680, 114480771], [114482954, 114483114], [114486977, 114487082], [114489160, 114489225], [114492162, 114492250], [114493353, 114493435], [114500268, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513946, 114513986]]
NM_001330317 [[114499460, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114514270]] [[114500253, 114500456], [114501289, 114501371], [114503853, 114503916], [114508001, 114508145], [114512741, 114512883], [114513030, 114513121], [114513431, 114513453]]
Promoter
Chrom Start End Description
chr2 114480759 114480772 CAGE_peak_5_at_SLC35F5_5end
chr2 114514069 114514083 CAGE_peak_4_at_SLC35F5_5end
chr2 114514154 114514174 CAGE_peak_3_at_SLC35F5_5end
chr2 114514181 114514204 CAGE_peak_1_at_SLC35F5_5end
chr2 114514205 114514227 CAGE_peak_2_at_SLC35F5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I113754 113754800 113757861 2.07 [{'connected_gene': 'SLC35F5', 'score': 550.77}, {'connected_gene': 'ENSG00000227359', 'score': 27.49}, {'connected_gene': 'DDX11L2', 'score': 25.5}, {'connected_gene': 'RPL23AP7', 'score': 20.22}, {'connected_gene': 'ENSG00000228857', 'score': 5.12}, {'connected_gene': 'MIR4782', 'score': 0.29}]
chr2 GH02I114709 114709136 114711401 0.51 [{'connected_gene': 'SLC35F5', 'score': 5.51}, {'connected_gene': 'DPP10-AS1', 'score': 5.37}, {'connected_gene': 'DPP10-AS3', 'score': 0.13}, {'connected_gene': 'GC02P114561', 'score': 0.11}, {'connected_gene': 'DPP10', 'score': 0.06}]
chr2 GH02I113799 113799401 113799821 0.46 [{'connected_gene': 'RPL23AP7', 'score': 13.12}, {'connected_gene': 'DDX11L2', 'score': 7.64}, {'connected_gene': 'SLC35F5', 'score': 5.91}, {'connected_gene': 'GC02M113811', 'score': 0.39}]
chr2 GH02I113833 113833717 113834583 0.4 [{'connected_gene': 'RPL23AP7', 'score': 8.24}, {'connected_gene': 'SLC35F5', 'score': 7.49}, {'connected_gene': 'ENSG00000228857', 'score': 5.36}, {'connected_gene': 'GC02P113831', 'score': 0.77}, {'connected_gene': 'LOC101060091', 'score': 0.22}]
chr2 GH02I113784 113784944 113786217 0.2 [{'connected_gene': 'RPL23AP7', 'score': 19.38}, {'connected_gene': 'GC02M113811', 'score': 0.31}, {'connected_gene': 'SLC35F5', 'score': 0.31}]
chr2 GH02I113760 113760434 113763580 0.49 [{'connected_gene': 'RPL23AP7', 'score': 19.54}, {'connected_gene': 'ACTR3', 'score': 17.92}, {'connected_gene': 'DDX11L2', 'score': 15.32}, {'connected_gene': 'ENSG00000227359', 'score': 9.09}, {'connected_gene': 'SLC35F5', 'score': 0.44}, {'connected_gene': 'GC02M113811', 'score': 0.23}]
chr2 GH02I113776 113776568 113778175 0.31 [{'connected_gene': 'RPL23AP7', 'score': 13.33}, {'connected_gene': 'ENSG00000227359', 'score': 9.33}, {'connected_gene': 'ACTR3', 'score': 7.77}, {'connected_gene': 'SLC35F5', 'score': 6.49}, {'connected_gene': 'DDX11L2', 'score': 5.16}, {'connected_gene': 'GC02M113811', 'score': 0.28}]
chr2 GH02I113711 113711789 113712253 0.39 [{'connected_gene': 'RNU6-744P', 'score': 11.19}, {'connected_gene': 'SLC35F5', 'score': 5.5}, {'connected_gene': 'MIR4782', 'score': 0.44}, {'connected_gene': 'ENSG00000227359', 'score': 0.44}]
chr2 GH02I113817 113817794 113819757 1 [{'connected_gene': 'LOC105373570', 'score': 550.77}, {'connected_gene': 'SLC35F5', 'score': 25.48}, {'connected_gene': 'ENSG00000228857', 'score': 19.31}, {'connected_gene': 'ACTR3', 'score': 15.74}, {'connected_gene': 'RPL23AP7', 'score': 5.41}, {'connected_gene': 'GC02M113811', 'score': 0.44}]
chr2 GH02I113969 113969988 113973274 0.38 [{'connected_gene': 'ACTR3', 'score': 19.15}, {'connected_gene': 'SLC35F5', 'score': 17.2}, {'connected_gene': 'ENSG00000228857', 'score': 7.46}, {'connected_gene': 'ENSG00000243179', 'score': 6.49}, {'connected_gene': 'LINC01191', 'score': 6.31}, {'connected_gene': 'RPL23AP7', 'score': 6.13}, {'connected_gene': 'GC02P113964', 'score': 0.44}]
chr2 GH02I113857 113857442 113858000 0.92 [{'connected_gene': 'ACTR3', 'score': 16.98}, {'connected_gene': 'SLC35F5', 'score': 5.82}, {'connected_gene': 'CBWD2', 'score': 1.31}, {'connected_gene': 'ENSG00000228857', 'score': 0.39}, {'connected_gene': 'LOC101060091', 'score': 0.29}, {'connected_gene': 'ENSG00000270019', 'score': 0.29}]
chr2 GH02I113885 113885943 113895734 2.62 [{'connected_gene': 'ACTR3', 'score': 570.59}, {'connected_gene': 'LOC101060091', 'score': 550.77}, {'connected_gene': 'ENSG00000270019', 'score': 550.77}, {'connected_gene': 'SLC35F5', 'score': 14.2}, {'connected_gene': 'WASH2P', 'score': 12.93}, {'connected_gene': 'ENSG00000244063', 'score': 10.88}, {'connected_gene': 'LINC01191', 'score': 6.47}, {'connected_gene': 'RPL23AP7', 'score': 5.93}, {'connected_gene': 'DDX11L2', 'score': 4.89}, {'connected_gene': 'CBWD2', 'score': 2.93}]
chr2 GH02I113702 113702729 113704263 0.43 [{'connected_gene': 'ENSG00000227359', 'score': 550.77}, {'connected_gene': 'DDX11L2', 'score': 30.56}, {'connected_gene': 'SLC35F5', 'score': 14.62}, {'connected_gene': 'RNU6-744P', 'score': 12.03}, {'connected_gene': 'ACTR3', 'score': 8.04}]
chr2 GH02I113905 113905436 113907627 0.52 [{'connected_gene': 'ENSG00000244063', 'score': 26.38}, {'connected_gene': 'SLC35F5', 'score': 15.47}, {'connected_gene': 'RPL23AP7', 'score': 5.86}, {'connected_gene': 'LINC01191', 'score': 5.12}, {'connected_gene': 'ENSG00000279957', 'score': 0.77}, {'connected_gene': 'ACTR3', 'score': 0.37}, {'connected_gene': 'GC02P113964', 'score': 0.22}]
chr2 GH02I113848 113848693 113849803 0.38 [{'connected_gene': 'ENSG00000244063', 'score': 8.39}, {'connected_gene': 'ENSG00000228857', 'score': 7.77}, {'connected_gene': 'SLC35F5', 'score': 6.48}, {'connected_gene': 'RPL23AP7', 'score': 5.68}, {'connected_gene': 'LOC101060091', 'score': 0.26}, {'connected_gene': 'ENSG00000270019', 'score': 0.26}]
chr2 GH02I113796 113796848 113797301 0.38 [{'connected_gene': 'GC02M113811', 'score': 0.37}, {'connected_gene': 'SLC35F5', 'score': 0.26}]
chr2 GH02I113976 113976967 113979913 1.18 [{'connected_gene': 'ENSG00000243179', 'score': 559.59}, {'connected_gene': 'LINC01191', 'score': 550.77}, {'connected_gene': 'LOC100499194', 'score': 550.77}, {'connected_gene': 'ACTR3', 'score': 9.5}, {'connected_gene': 'ENSG00000244063', 'score': 8.63}, {'connected_gene': 'RPL23AP7', 'score': 5.8}, {'connected_gene': 'ENSG00000228857', 'score': 4.77}, {'connected_gene': 'SLC35F5', 'score': 4.69}, {'connected_gene': 'GC02P113964', 'score': 0.39}]
chr2 GH02I113806 113806604 113806793 0.65 [{'connected_gene': 'GC02M113811', 'score': 0.44}, {'connected_gene': 'LOC105373570', 'score': 0.39}, {'connected_gene': 'SLC35F5', 'score': 0.25}]
chr2 GH02I113864 113864551 113866602 0.2 [{'connected_gene': 'ENSG00000244063', 'score': 18.47}, {'connected_gene': 'ACTR3', 'score': 11.95}, {'connected_gene': 'SLC35F5', 'score': 8.26}, {'connected_gene': 'RPL23AP7', 'score': 4.93}, {'connected_gene': 'ENSG00000228857', 'score': 0.34}, {'connected_gene': 'ENSG00000270019', 'score': 0.34}, {'connected_gene': 'LOC101060091', 'score': 0.31}]
chr2 GH02I113876 113875978 113879232 1.53 [{'connected_gene': 'ENSG00000228857', 'score': 10.99}, {'connected_gene': 'ENSG00000244063', 'score': 10.91}, {'connected_gene': 'ACTR3', 'score': 8.15}, {'connected_gene': 'SLC35F5', 'score': 6.57}, {'connected_gene': 'RPL23AP7', 'score': 5.39}, {'connected_gene': 'LOC101060091', 'score': 0.39}, {'connected_gene': 'ENSG00000270019', 'score': 0.39}]
chr2 GH02I113842 113842583 113844393 0.56 [{'connected_gene': 'ENSG00000228857', 'score': 550.77}, {'connected_gene': 'ENSG00000244063', 'score': 33.83}, {'connected_gene': 'ACTR3', 'score': 19.66}, {'connected_gene': 'SLC35F5', 'score': 6.49}, {'connected_gene': 'RPL23AP7', 'score': 5.84}, {'connected_gene': 'LOC101060091', 'score': 0.25}, {'connected_gene': 'ENSG00000270019', 'score': 0.25}]
chr2 GH02I113911 113911940 113914024 0.31 [{'connected_gene': 'ENSG00000244063', 'score': 29.73}, {'connected_gene': 'ACTR3', 'score': 21.33}, {'connected_gene': 'SLC35F5', 'score': 15.46}, {'connected_gene': 'ENSG00000228857', 'score': 7.6}, {'connected_gene': 'RPL23AP7', 'score': 5.8}, {'connected_gene': 'ENSG00000279957', 'score': 0.44}, {'connected_gene': 'GC02P113964', 'score': 0.23}]
chr2 GH02I113862 113862201 113863712 0.71 [{'connected_gene': 'ENSG00000244063', 'score': 30.41}, {'connected_gene': 'ACTR3', 'score': 11.61}, {'connected_gene': 'SLC35F5', 'score': 5.81}, {'connected_gene': 'ENSG00000228857', 'score': 0.37}, {'connected_gene': 'LOC101060091', 'score': 0.31}, {'connected_gene': 'ENSG00000270019', 'score': 0.31}]
chr2 GH02I113791 113791801 113792400 0.91 [{'connected_gene': 'ENSG00000228857', 'score': 11.49}, {'connected_gene': 'ACTR3', 'score': 10.99}, {'connected_gene': 'SLC35F5', 'score': 4.94}, {'connected_gene': 'GC02M113811', 'score': 0.34}]

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