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
ENST00000531207 [[76092356, 76092418], [76114703, 76114965], [76119520, 76119666], [76121905, 76125663]] None
ENST00000530460 [[76092359, 76094821]] [[76092872, 76093505]]
ENST00000321844 [[76092368, 76093254], [76114703, 76119180]] [[76092872, 76093254], [76114703, 76115086]]
ENST00000529331 [[76092848, 76093337], [76114703, 76114914]] [[76092872, 76093337], [76114703, 76114802]]
ENST00000531785 [[76092855, 76093337], [76106017, 76106143]] None
ENST00000534586 [[76093828, 76093948], [76119520, 76119666], [76121905, 76122350]] None
Promoter
Chrom Start End Description
chr11 76092353 76092400 CAGE_peak_1_at_LOC100506127_5end
chr11 76092440 76092451 CAGE_peak_2_at_LOC100506127_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I075838 75838199 75842363 0.59 [{'connected_gene': 'DGAT2', 'score': 18.66}, {'connected_gene': 'ENSG00000254814', 'score': 11.92}, {'connected_gene': 'ENSG00000255421', 'score': 10.96}, {'connected_gene': 'MOGAT2', 'score': 10.59}, {'connected_gene': 'GVQW3', 'score': 5.71}, {'connected_gene': 'GC11M075838', 'score': 0.77}, {'connected_gene': 'ENSG00000199362', 'score': 0.77}, {'connected_gene': 'UVRAG', 'score': 0.31}, {'connected_gene': 'PPP1R1AP1', 'score': 0.19}]
chr11 GH11I076379 76379342 76382989 2.05 [{'connected_gene': 'THAP12', 'score': 555.6}, {'connected_gene': 'GVQW3', 'score': 555.24}, {'connected_gene': 'TSKU', 'score': 14.67}, {'connected_gene': 'ENSG00000261578', 'score': 12.5}, {'connected_gene': 'EMSY', 'score': 11.02}, {'connected_gene': 'ENSG00000255363', 'score': 10.78}, {'connected_gene': 'LOC101928837', 'score': 10.71}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'ENSG00000255135', 'score': 5.62}]
chr11 GH11I076860 76860048 76862590 2.02 [{'connected_gene': 'ACER3', 'score': 565.23}, {'connected_gene': 'EMSY', 'score': 50.01}, {'connected_gene': 'ENSG00000271757', 'score': 23.29}, {'connected_gene': 'RSF1', 'score': 20.4}, {'connected_gene': 'ENSG00000272301', 'score': 19.95}, {'connected_gene': 'GVQW3', 'score': 19.24}, {'connected_gene': 'ENSG00000255135', 'score': 13.48}, {'connected_gene': 'THAP12', 'score': 10.14}, {'connected_gene': 'ENSG00000254988', 'score': 7.24}]
chr11 GH11I076596 76596226 76598189 0.43 [{'connected_gene': 'ACER3', 'score': 8.78}, {'connected_gene': 'GVQW3', 'score': 6.96}, {'connected_gene': 'ENSG00000254755', 'score': 0.44}, {'connected_gene': 'ENSG00000255479', 'score': 0.31}]
chr11 GH11I076614 76614401 76618110 0.94 [{'connected_gene': 'LRRC32', 'score': 12.84}, {'connected_gene': 'ENSG00000254975', 'score': 12.83}, {'connected_gene': 'ENSG00000254810', 'score': 11.92}, {'connected_gene': 'LOC107984360', 'score': 11.92}, {'connected_gene': 'GVQW3', 'score': 4.48}, {'connected_gene': 'ENSG00000255363', 'score': 0.39}, {'connected_gene': 'LOC101928813', 'score': 0.39}, {'connected_gene': 'ENSG00000255479', 'score': 0.39}, {'connected_gene': 'ENSG00000254755', 'score': 0.31}]
chr11 GH11I076601 76601427 76605926 1.08 [{'connected_gene': 'LRRC32', 'score': 12.7}, {'connected_gene': 'ENSG00000254975', 'score': 12.69}, {'connected_gene': 'ENSG00000254810', 'score': 12.12}, {'connected_gene': 'LOC107984360', 'score': 12.12}, {'connected_gene': 'GVQW3', 'score': 4.52}, {'connected_gene': 'ENSG00000254755', 'score': 0.39}, {'connected_gene': 'ENSG00000255479', 'score': 0.34}]
chr11 GH11I076368 76368997 76370196 0.4 [{'connected_gene': 'GVQW3', 'score': 7.26}, {'connected_gene': 'ENSG00000255135', 'score': 5.99}, {'connected_gene': 'WNT11', 'score': 4.79}, {'connected_gene': 'THAP12', 'score': 0.39}, {'connected_gene': 'LOC105369395', 'score': 0.17}]
chr11 GH11I075857 75857689 75859850 0.56 [{'connected_gene': 'GVQW3', 'score': 4.58}, {'connected_gene': 'GC11M075838', 'score': 0.34}, {'connected_gene': 'ENSG00000199362', 'score': 0.34}, {'connected_gene': 'UVRAG', 'score': 0.26}, {'connected_gene': 'PPP1R1AP1', 'score': 0.23}]
chr11 GH11I076525 76525097 76525246 0.46 [{'connected_gene': 'GVQW3', 'score': 15.91}, {'connected_gene': 'PIR57504', 'score': 0.22}, {'connected_gene': 'EMSY', 'score': 0.18}]
chr11 GH11I076454 76454159 76456534 0.74 [{'connected_gene': 'GVQW3', 'score': 6.05}, {'connected_gene': 'EMSY', 'score': 0.39}, {'connected_gene': 'PIR57504', 'score': 0.13}]
chr11 GH11I076453 76453289 76454099 0.2 [{'connected_gene': 'GVQW3', 'score': 6.16}, {'connected_gene': 'EMSY', 'score': 0.44}, {'connected_gene': 'PIR57504', 'score': 0.13}]
chr11 GH11I076338 76338201 76340461 0.76 [{'connected_gene': 'GVQW3', 'score': 6.37}, {'connected_gene': 'ENSG00000255135', 'score': 5.73}, {'connected_gene': 'THAP12', 'score': 0.26}, {'connected_gene': 'LOC105369395', 'score': 0.23}]
chr11 GH11I076621 76621200 76622993 0.31 [{'connected_gene': 'GVQW3', 'score': 4.55}, {'connected_gene': 'ENSG00000255479', 'score': 0.77}, {'connected_gene': 'ENSG00000255363', 'score': 0.44}, {'connected_gene': 'LOC101928813', 'score': 0.44}, {'connected_gene': 'ENSG00000254755', 'score': 0.29}]
chr11 GH11I076233 76233278 76237530 1.73 [{'connected_gene': 'TRP-TGG2-1', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-4', 'score': 550.77}, {'connected_gene': 'PIR59119', 'score': 550.77}, {'connected_gene': 'GC11M076236', 'score': 550.77}, {'connected_gene': 'EMSY', 'score': 34.32}, {'connected_gene': 'RPS3', 'score': 23.48}, {'connected_gene': 'WNT11', 'score': 13.18}, {'connected_gene': 'GVQW3', 'score': 11.62}, {'connected_gene': 'SNORD15B', 'score': 11.59}, {'connected_gene': 'ENSG00000272301', 'score': 11.12}, {'connected_gene': 'ENSG00000255362', 'score': 6.8}]
chr11 GH11I076370 76370696 76372000 1 [{'connected_gene': 'ENSG00000255135', 'score': 22.56}, {'connected_gene': 'EMSY', 'score': 10.47}, {'connected_gene': 'GVQW3', 'score': 8.45}, {'connected_gene': 'THAP12', 'score': 0.44}, {'connected_gene': 'LOC105369395', 'score': 0.17}]
chr11 GH11I076385 76385492 76386606 0.77 [{'connected_gene': 'ENSG00000255135', 'score': 10.66}, {'connected_gene': 'EMSY', 'score': 10.66}, {'connected_gene': 'GVQW3', 'score': 0.77}, {'connected_gene': 'ENSG00000272301', 'score': 0.77}]
chr11 GH11I076587 76587246 76590414 1.02 [{'connected_gene': 'ENSG00000254810', 'score': 11.93}, {'connected_gene': 'LOC107984360', 'score': 11.93}, {'connected_gene': 'GVQW3', 'score': 5.79}, {'connected_gene': 'ENSG00000255135', 'score': 5.41}, {'connected_gene': 'ENSG00000254755', 'score': 0.77}, {'connected_gene': 'PIR34395', 'score': 0.44}]
chr11 GH11I076591 76591105 76593410 0.31 [{'connected_gene': 'ENSG00000254755', 'score': 550.77}, {'connected_gene': 'ENSG00000254810', 'score': 11.94}, {'connected_gene': 'LOC107984360', 'score': 11.94}, {'connected_gene': 'GVQW3', 'score': 5.31}, {'connected_gene': 'ENSG00000255479', 'score': 0.29}]
chr11 GH11I076046 76046993 76049575 0.82 [{'connected_gene': 'ENSG00000255434', 'score': 11.58}, {'connected_gene': 'LOC105369391', 'score': 10.84}, {'connected_gene': 'ENSG00000255421', 'score': 10.75}, {'connected_gene': 'GVQW3', 'score': 10.72}, {'connected_gene': 'THAP12', 'score': 10.67}, {'connected_gene': 'ENSG00000271757', 'score': 10.07}, {'connected_gene': 'EMSY', 'score': 9.98}, {'connected_gene': 'MAP6', 'score': 9.93}, {'connected_gene': 'ENSG00000272301', 'score': 9.73}, {'connected_gene': 'PIR47539', 'score': 0.28}, {'connected_gene': 'UVRAG', 'score': 0.07}]
chr11 GH11I076573 76573977 76580756 1.39 [{'connected_gene': 'ENSG00000255135', 'score': 9.18}, {'connected_gene': 'GVQW3', 'score': 5.25}, {'connected_gene': 'PIR57504', 'score': 0.44}, {'connected_gene': 'EMSY', 'score': 0.12}]
chr11 GH11I076390 76390899 76391644 0.2 [{'connected_gene': 'ENSG00000271757', 'score': 550.77}, {'connected_gene': 'ENSG00000272301', 'score': 550.77}, {'connected_gene': 'GVQW3', 'score': 18.07}, {'connected_gene': 'ENSG00000255135', 'score': 11.08}, {'connected_gene': 'EMSY', 'score': 11.08}]