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
ENST00000258341 [[182992594, 182993269], [183072462, 183072767], [183077410, 183077541], [183079622, 183079789], [183083665, 183083854], [183084654, 183084772], [183085711, 183085810], [183085901, 183086038], [183086454, 183086577], [183086668, 183086858], [183087168, 183087281], [183090857, 183091079], [183091197, 183091386], [183093765, 183094011], [183094531, 183094685], [183095254, 183095397], [183096360, 183096539], [183097728, 183097885], [183099478, 183099684], [183100433, 183100513], [183101534, 183101672], [183102540, 183102685], [183103794, 183103944], [183104176, 183104291], [183105520, 183105720], [183106803, 183106962], [183109538, 183109638], [183111668, 183114727]] [[182992851, 182993269], [183072462, 183072767], [183077410, 183077541], [183079622, 183079789], [183083665, 183083854], [183084654, 183084772], [183085711, 183085810], [183085901, 183086038], [183086454, 183086577], [183086668, 183086858], [183087168, 183087281], [183090857, 183091079], [183091197, 183091386], [183093765, 183094011], [183094531, 183094685], [183095254, 183095397], [183096360, 183096539], [183097728, 183097885], [183099478, 183099684], [183100433, 183100513], [183101534, 183101672], [183102540, 183102685], [183103794, 183103944], [183104176, 183104291], [183105520, 183105720], [183106803, 183106962], [183109538, 183109638], [183111668, 183111925]]
ENST00000484114 [[183065678, 183065755], [183072462, 183072767], [183077410, 183077541], [183079622, 183079766]] [[183079653, 183079766]]
ENST00000479499 [[183079715, 183079789], [183083665, 183083854], [183084654, 183084772], [183085711, 183085810], [183085901, 183086121]] None
ENST00000466964 [[183094322, 183094685], [183095254, 183095397], [183096360, 183096539], [183097728, 183097863]] None
ENST00000478064 [[183097730, 183097955], [183099478, 183099684], [183100433, 183100513], [183101534, 183101672], [183102540, 183102673]] None
ENST00000495918 [[183103824, 183103944], [183104176, 183104291], [183105520, 183105720], [183106803, 183107040]] None
NM_002293 [[182992594, 182993269], [183072462, 183072767], [183077410, 183077541], [183079622, 183079789], [183083665, 183083854], [183084654, 183084772], [183085711, 183085810], [183085901, 183086038], [183086454, 183086577], [183086668, 183086858], [183087168, 183087281], [183090857, 183091079], [183091197, 183091386], [183093765, 183094011], [183094531, 183094685], [183095254, 183095397], [183096360, 183096539], [183097728, 183097885], [183099478, 183099684], [183100433, 183100513], [183101534, 183101672], [183102540, 183102685], [183103794, 183103944], [183104176, 183104291], [183105520, 183105720], [183106803, 183106962], [183109538, 183109638], [183111668, 183114727]] [[182992851, 182993269], [183072462, 183072767], [183077410, 183077541], [183079622, 183079789], [183083665, 183083854], [183084654, 183084772], [183085711, 183085810], [183085901, 183086038], [183086454, 183086577], [183086668, 183086858], [183087168, 183087281], [183090857, 183091079], [183091197, 183091386], [183093765, 183094011], [183094531, 183094685], [183095254, 183095397], [183096360, 183096539], [183097728, 183097885], [183099478, 183099684], [183100433, 183100513], [183101534, 183101672], [183102540, 183102685], [183103794, 183103944], [183104176, 183104291], [183105520, 183105720], [183106803, 183106962], [183109538, 183109638], [183111668, 183111925]]
Promoter
Chrom Start End Description
chr1 182992333 182992357 CAGE_peak_6_at_LAMC1_5end
chr1 182992362 182992402 CAGE_peak_2_at_LAMC1_5end
chr1 182992405 182992422 CAGE_peak_5_at_LAMC1_5end
chr1 182992442 182992453 CAGE_peak_9_at_LAMC1_5end
chr1 182992521 182992541 CAGE_peak_7_at_LAMC1_5end
chr1 182992545 182992630 CAGE_peak_1_at_LAMC1_5end
chr1 182992639 182992662 CAGE_peak_4_at_LAMC1_5end
chr1 182992682 182992705 CAGE_peak_3_at_LAMC1_5end
chr1 182992728 182992739 CAGE_peak_8_at_LAMC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I183469 183469707 183473909 2.37 [{'connected_gene': 'SMG7', 'score': 580.95}, {'connected_gene': 'SMG7-AS1', 'score': 567.89}, {'connected_gene': 'DHX9', 'score': 178.51}, {'connected_gene': 'LAMC1-AS1', 'score': 75.11}, {'connected_gene': 'HMGN1P4', 'score': 47.24}, {'connected_gene': 'ENSG00000271387', 'score': 20.32}, {'connected_gene': 'LAMC1', 'score': 18.5}, {'connected_gene': 'RNASEL', 'score': 10.4}, {'connected_gene': 'LAMC2', 'score': 10.22}, {'connected_gene': 'NCF2', 'score': 5.31}, {'connected_gene': 'LOC105371646', 'score': 0.28}]
chr1 GH01I182600 182600966 182604995 2.43 [{'connected_gene': 'RGS16', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 33.72}, {'connected_gene': 'RNASEL', 'score': 23.09}, {'connected_gene': 'LAMC1-AS1', 'score': 21.83}, {'connected_gene': 'HMGN1P4', 'score': 14.69}, {'connected_gene': 'LAMC1', 'score': 11.35}, {'connected_gene': 'LAMC2', 'score': 10.19}, {'connected_gene': 'GC01M182527', 'score': 0.44}]
chr1 GH01I183592 183592292 183594196 1.21 [{'connected_gene': 'NCF2', 'score': 43.55}, {'connected_gene': 'DHX9', 'score': 13.31}, {'connected_gene': 'LAMC1', 'score': 12.39}, {'connected_gene': 'SMG7', 'score': 12.0}, {'connected_gene': 'APOBEC4', 'score': 10.49}, {'connected_gene': 'HMGN1P4', 'score': 9.65}, {'connected_gene': 'ARPC5', 'score': 5.9}, {'connected_gene': 'SMG7-AS1', 'score': 4.41}, {'connected_gene': 'GC01M183620', 'score': 0.31}]
chr1 GH01I183194 183194238 183200235 1.2 [{'connected_gene': 'LAMC2', 'score': 25.49}, {'connected_gene': 'LAMC1', 'score': 8.82}, {'connected_gene': 'RPS3AP8', 'score': 0.2}]
chr1 GH01I183190 183190860 183193467 1 [{'connected_gene': 'LAMC2', 'score': 28.75}, {'connected_gene': 'LAMC1', 'score': 8.73}, {'connected_gene': 'RPS3AP8', 'score': 0.19}]
chr1 GH01I183184 183184416 183189818 2 [{'connected_gene': 'LAMC2', 'score': 601.28}, {'connected_gene': 'DHX9', 'score': 23.3}, {'connected_gene': 'HMGN1P4', 'score': 10.67}, {'connected_gene': 'LAMC1-AS1', 'score': 10.45}, {'connected_gene': 'LAMC1', 'score': 7.44}, {'connected_gene': 'RPS3AP8', 'score': 0.18}]
chr1 GH01I183158 183158891 183166780 1.56 [{'connected_gene': 'LAMC2', 'score': 32.46}, {'connected_gene': 'LAMC1-AS1', 'score': 7.11}, {'connected_gene': 'LAMC1', 'score': 6.17}]
chr1 GH01I183021 183021181 183028216 2.29 [{'connected_gene': 'LAMC1', 'score': 565.8}, {'connected_gene': 'LAMC1-AS1', 'score': 40.8}, {'connected_gene': 'DHX9', 'score': 19.11}, {'connected_gene': 'HMGN1P4', 'score': 14.82}, {'connected_gene': 'SMG7', 'score': 11.92}, {'connected_gene': 'RNU6-41P', 'score': 10.25}]
chr1 GH01I183036 183036201 183036400 0.58 [{'connected_gene': 'LAMC1', 'score': 15.61}, {'connected_gene': 'LAMC1-AS1', 'score': 0.15}]
chr1 GH01I183075 183075201 183075400 0.4 [{'connected_gene': 'LAMC1', 'score': 0.23}, {'connected_gene': 'LAMC1-AS1', 'score': 0.2}]
chr1 GH01I182288 182288307 182293560 1.63 [{'connected_gene': 'DHX9', 'score': 13.32}, {'connected_gene': 'LAMC1', 'score': 12.39}, {'connected_gene': 'RPL18P2', 'score': 11.36}, {'connected_gene': 'RNU6-152P', 'score': 11.36}, {'connected_gene': 'GLUL', 'score': 11.16}, {'connected_gene': 'HMGN1P4', 'score': 9.65}, {'connected_gene': 'LINC01344', 'score': 0.34}, {'connected_gene': 'YPEL5P1', 'score': 0.14}]
chr1 GH01I183043 183043130 183045926 1.23 [{'connected_gene': 'DHX9', 'score': 56.95}, {'connected_gene': 'LAMC1-AS1', 'score': 32.06}, {'connected_gene': 'LAMC1', 'score': 15.52}, {'connected_gene': 'RGL1', 'score': 12.13}]
chr1 GH01I183270 183270168 183274324 1.44 [{'connected_gene': 'DHX9', 'score': 13.24}, {'connected_gene': 'RNU6-41P', 'score': 10.14}, {'connected_gene': 'LAMC2', 'score': 6.52}, {'connected_gene': 'LAMC1', 'score': 2.11}, {'connected_gene': 'RPS3AP8', 'score': 0.44}, {'connected_gene': 'NMNAT2', 'score': 0.11}]
chr1 GH01I182299 182299149 182302834 1.7 [{'connected_gene': 'DHX9', 'score': 40.03}, {'connected_gene': 'HMGN1P4', 'score': 19.14}, {'connected_gene': 'LAMC1', 'score': 12.39}, {'connected_gene': 'GLUL', 'score': 11.85}, {'connected_gene': 'RPL18P2', 'score': 11.83}, {'connected_gene': 'RNU6-152P', 'score': 11.83}, {'connected_gene': 'EIF1P3', 'score': 10.9}, {'connected_gene': 'LINC01344', 'score': 0.39}, {'connected_gene': 'YPEL5P1', 'score': 0.13}]
chr1 GH01I183058 183058439 183061633 1.39 [{'connected_gene': 'LAMC1-AS1', 'score': 21.53}, {'connected_gene': 'LAMC1', 'score': 15.23}, {'connected_gene': 'DHX9', 'score': 11.52}, {'connected_gene': 'HMGN1P4', 'score': 10.73}, {'connected_gene': 'RNU6-41P', 'score': 10.11}]
chr1 GH01I183048 183048067 183049342 0.85 [{'connected_gene': 'LAMC1-AS1', 'score': 21.52}, {'connected_gene': 'LAMC1', 'score': 15.49}, {'connected_gene': 'RNU6-41P', 'score': 10.85}]
chr1 GH01I183134 183134175 183135859 0.38 [{'connected_gene': 'LAMC1-AS1', 'score': 26.89}, {'connected_gene': 'LAMC1', 'score': 14.48}, {'connected_gene': 'RNU6-41P', 'score': 9.95}]
chr1 GH01I183028 183028580 183031250 1.6 [{'connected_gene': 'LAMC1-AS1', 'score': 21.54}, {'connected_gene': 'LAMC1', 'score': 15.65}, {'connected_gene': 'RNU6-41P', 'score': 10.23}]
chr1 GH01I183069 183069481 183073435 1.34 [{'connected_gene': 'LAMC1-AS1', 'score': 21.58}, {'connected_gene': 'LAMC1', 'score': 15.43}, {'connected_gene': 'LOC100271717', 'score': 10.18}, {'connected_gene': 'SHCBP1L', 'score': 10.18}]
chr1 GH01I183090 183089725 183092696 0.94 [{'connected_gene': 'LAMC1-AS1', 'score': 26.86}, {'connected_gene': 'LAMC1', 'score': 15.17}]
chr1 GH01I183089 183089086 183089235 1.04 [{'connected_gene': 'LAMC1-AS1', 'score': 0.23}, {'connected_gene': 'LAMC1', 'score': 0.2}]
chr1 GH01I183138 183138283 183140556 1.16 [{'connected_gene': 'LAMC1-AS1', 'score': 575.67}, {'connected_gene': 'LAMC1', 'score': 4.67}]
chr1 GH01I183105 183105236 183106763 0.51 [{'connected_gene': 'LAMC1-AS1', 'score': 26.33}, {'connected_gene': 'LAMC1', 'score': 0.18}]
chr1 GH01I183093 183093218 183094735 1.22 [{'connected_gene': 'LAMC1-AS1', 'score': 26.29}, {'connected_gene': 'LAMC1', 'score': 0.19}]
chr1 GH01I183079 183079885 183081337 1.06 [{'connected_gene': 'LAMC1-AS1', 'score': 22.06}, {'connected_gene': 'LAMC1', 'score': 15.35}]
chr1 GH01I183130 183130406 183130555 0.4 [{'connected_gene': 'LAMC1-AS1', 'score': 0.39}, {'connected_gene': 'LAMC1', 'score': 0.14}]
chr1 GH01I183122 183122371 183124915 0.52 [{'connected_gene': 'LAMC1-AS1', 'score': 26.59}, {'connected_gene': 'LAMC1', 'score': 13.95}]
chr1 GH01I183038 183038216 183043000 1.23 [{'connected_gene': 'LAMC1-AS1', 'score': 21.51}, {'connected_gene': 'LAMC1', 'score': 15.56}]
chr1 GH01I183125 183125510 183127483 0.4 [{'connected_gene': 'LAMC1-AS1', 'score': 26.46}, {'connected_gene': 'LAMC1', 'score': 14.45}]
chr1 GH01I183018 183018966 183020386 0.88 [{'connected_gene': 'LAMC1-AS1', 'score': 21.24}, {'connected_gene': 'DHX9', 'score': 16.86}, {'connected_gene': 'LAMC1', 'score': 5.02}, {'connected_gene': 'GC01M182983', 'score': 0.28}, {'connected_gene': 'RNU6-41P', 'score': 0.28}]
chr1 GH01I183031 183031932 183033025 1.11 [{'connected_gene': 'LAMC1-AS1', 'score': 21.33}, {'connected_gene': 'DHX9', 'score': 16.86}, {'connected_gene': 'RNU6-41P', 'score': 10.22}, {'connected_gene': 'LAMC1', 'score': 0.44}]
chr1 GH01I183062 183062636 183064588 0.38 [{'connected_gene': 'LAMC1-AS1', 'score': 21.74}, {'connected_gene': 'DHX9', 'score': 15.66}, {'connected_gene': 'HMGN1P4', 'score': 11.19}, {'connected_gene': 'RNU6-41P', 'score': 10.07}, {'connected_gene': 'LAMC1', 'score': 0.26}]
chr1 GH01I183101 183101647 183102200 0.76 [{'connected_gene': 'LAMC1-AS1', 'score': 23.62}, {'connected_gene': 'RNU6-41P', 'score': 9.58}, {'connected_gene': 'LAMC1', 'score': 0.18}]
chr1 GH01I183033 183033306 183033455 0.86 [{'connected_gene': 'LAMC1-AS1', 'score': 21.48}, {'connected_gene': 'RNU6-41P', 'score': 10.22}, {'connected_gene': 'LAMC1', 'score': 0.44}]
chr1 GH01I183050 183050889 183052413 0.43 [{'connected_gene': 'LAMC1-AS1', 'score': 21.53}, {'connected_gene': 'RNU6-41P', 'score': 10.85}, {'connected_gene': 'LAMC1', 'score': 0.31}]
chr1 GH01I183095 183095966 183099198 0.86 [{'connected_gene': 'LAMC1-AS1', 'score': 26.58}, {'connected_gene': 'RNU6-41P', 'score': 9.73}, {'connected_gene': 'LAMC1', 'score': 4.65}]
chr1 GH01I183002 183002889 183003749 0.56 [{'connected_gene': 'LAMC1-AS1', 'score': 21.17}, {'connected_gene': 'RNU6-41P', 'score': 11.29}, {'connected_gene': 'LAMC1', 'score': 0.34}, {'connected_gene': 'GC01M182983', 'score': 0.34}]
chr1 GH01I183107 183107766 183110328 0.2 [{'connected_gene': 'LAMC1-AS1', 'score': 26.43}, {'connected_gene': 'LOC100271717', 'score': 10.68}, {'connected_gene': 'SHCBP1L', 'score': 10.68}, {'connected_gene': 'LAMC1', 'score': 0.17}]
chr1 GH01I183114 183114519 183115393 0.2 [{'connected_gene': 'LAMC1-AS1', 'score': 25.08}, {'connected_gene': 'LOC100271717', 'score': 9.67}, {'connected_gene': 'SHCBP1L', 'score': 9.66}, {'connected_gene': 'LAMC1', 'score': 0.16}]
chr1 GH01I183277 183277449 183284234 1.52 [{'connected_gene': 'LOC100271717', 'score': 10.6}, {'connected_gene': 'SHCBP1L', 'score': 10.6}, {'connected_gene': 'LAMC2', 'score': 6.78}, {'connected_gene': 'NCF2', 'score': 2.68}, {'connected_gene': 'ARPC5', 'score': 2.02}, {'connected_gene': 'LAMC1', 'score': 1.74}, {'connected_gene': 'RPS3AP8', 'score': 0.39}, {'connected_gene': 'NMNAT2', 'score': 0.12}]
chr1 GH01I182989 182989873 182991078 0.72 [{'connected_gene': 'LOC100271717', 'score': 10.42}, {'connected_gene': 'SHCBP1L', 'score': 10.4}, {'connected_gene': 'LAMC1-AS1', 'score': 5.07}, {'connected_gene': 'GC01M182983', 'score': 0.44}, {'connected_gene': 'RNU6-41P', 'score': 0.44}, {'connected_gene': 'LAMC1', 'score': 0.29}]
chr1 GH01I182957 182957798 182958698 0.46 [{'connected_gene': 'PIR46339', 'score': 550.77}, {'connected_gene': 'RNU6-41P', 'score': 12.26}, {'connected_gene': 'LAMC1', 'score': 8.5}, {'connected_gene': 'LAMC1-AS1', 'score': 6.26}, {'connected_gene': 'LOC100271717', 'score': 0.77}]

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