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
ENST00000512218 [[70883114, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936910], [70939597, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948581], [70952569, 70953042]] [[70883252, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936910], [70939597, 70939621]]
ENST00000340941 [[70883123, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936902], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948581], [70952569, 70954531]] [[70883252, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936902], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948581], [70952569, 70952687]]
ENST00000509358 [[70883156, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936948]] [[70883252, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936922]]
ENST00000323375 [[70883194, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936902], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948581], [70952569, 70953039]] [[70883252, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936902], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948581], [70952569, 70952687]]
ENST00000505787 [[70892096, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930926]] None
ENST00000510895 [[70898335, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70932538]] None
ENST00000505435 [[70900206, 70900295], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70937195]] None
ENST00000507169 [[70888697, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898892]] None
ENST00000509539 [[70922480, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70931930, 70931994], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948549]] [[70922517, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70931930, 70931994], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948549]]
NM_022132 [[70883114, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936902], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948581], [70952569, 70954531]] [[70883252, 70883381], [70888752, 70888819], [70892106, 70892191], [70895485, 70895587], [70898332, 70898460], [70900182, 70900295], [70922466, 70922580], [70927947, 70928012], [70930769, 70930869], [70930977, 70931073], [70936829, 70936902], [70939645, 70939722], [70942037, 70942104], [70944923, 70945080], [70945895, 70946010], [70948495, 70948581], [70952569, 70952687]]
Promoter
Chrom Start End Description
chr5 70883099 70883114 CAGE_peak_4_at_MCCC2_5end
chr5 70883117 70883143 CAGE_peak_2_at_MCCC2_5end
chr5 70883154 70883174 CAGE_peak_1_at_MCCC2_5end
chr5 70883178 70883203 CAGE_peak_3_at_MCCC2_5end
chr5 70883207 70883236 CAGE_peak_5_at_MCCC2_5end
chr5 70883241 70883252 CAGE_peak_6_at_MCCC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I071693 71693398 71696003 1.17 [{'connected_gene': 'CARTPT', 'score': 21.34}, {'connected_gene': 'MCCC2', 'score': 0.14}]
chr5 GH05I071698 71698054 71698203 0.54 [{'connected_gene': 'CARTPT', 'score': 29.2}, {'connected_gene': 'MCCC2', 'score': 0.14}]
chr5 GH05I071719 71719014 71719073 0.68 [{'connected_gene': 'CARTPT', 'score': 550.77}, {'connected_gene': 'MCCC2', 'score': 0.12}]
chr5 GH05I071600 71600114 71602719 1.13 [{'connected_gene': 'MCCC2', 'score': 18.4}, {'connected_gene': 'CARTPT', 'score': 0.13}]
chr5 GH05I071642 71642337 71642595 0.34 [{'connected_gene': 'MCCC2', 'score': 0.22}, {'connected_gene': 'CARTPT', 'score': 0.18}]
chr5 GH05I071585 71585790 71589068 2.05 [{'connected_gene': 'MCCC2', 'score': 567.65}, {'connected_gene': 'BDP1', 'score': 10.82}, {'connected_gene': 'CARTPT', 'score': 0.12}]
chr5 GH05I071414 71414910 71430314 0.65 [{'connected_gene': 'MCCC2', 'score': 11.87}, {'connected_gene': 'BDP1', 'score': 5.78}, {'connected_gene': 'LOC653406', 'score': 5.69}, {'connected_gene': 'SERF1A', 'score': 5.35}, {'connected_gene': 'LOC107987434', 'score': 0.34}, {'connected_gene': 'LOC107987420', 'score': 0.34}, {'connected_gene': 'LINC02197', 'score': 0.31}, {'connected_gene': 'PMCHL2', 'score': 0.25}]
chr5 GH05I071481 71481820 71484632 0.79 [{'connected_gene': 'MCCC2', 'score': 15.63}, {'connected_gene': 'BDP1', 'score': 13.62}, {'connected_gene': 'LOC653080', 'score': 11.75}, {'connected_gene': 'GUSBP9', 'score': 11.54}, {'connected_gene': 'SMN1', 'score': 11.03}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'NAIP', 'score': 4.61}, {'connected_gene': 'LOC100419852', 'score': 0.44}, {'connected_gene': 'HMGN1P12', 'score': 0.23}]
chr5 GH05I071577 71577589 71578647 0.54 [{'connected_gene': 'MCCC2', 'score': 6.03}, {'connected_gene': 'HMGN1P12', 'score': 0.26}, {'connected_gene': 'BDP1', 'score': 0.13}]
chr5 GH05I071454 71454808 71457225 2.09 [{'connected_gene': 'BDP1', 'score': 572.81}, {'connected_gene': 'ENSG00000196302', 'score': 13.09}, {'connected_gene': 'MCCC2', 'score': 12.64}, {'connected_gene': 'LOC100419852', 'score': 0.34}]

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