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
ENST00000294889 [[220863186, 220864053], [220869953, 220872499]] [[220863744, 220864053], [220869953, 220870073]]
NM_024709 [[220863627, 220864053], [220869953, 220872499]] [[220863744, 220864053], [220869953, 220870073]]
Promoter
Chrom Start End Description
chr1 220863632 220863667 CAGE_peak_2_at_C1orf115_5end
chr1 220863682 220863693 CAGE_peak_3_at_C1orf115_5end
chr1 220863696 220863752 CAGE_peak_1_at_C1orf115_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I220732 220732247 220735257 1.16 [{'connected_gene': 'C1orf115', 'score': 32.19}, {'connected_gene': 'MARC1', 'score': 6.05}, {'connected_gene': 'MARC2', 'score': 0.39}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220766 220766297 220769823 1.09 [{'connected_gene': 'C1orf115', 'score': 22.38}, {'connected_gene': 'MARC1', 'score': 12.79}, {'connected_gene': 'MARC2', 'score': 4.83}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220689 220689719 220692566 2.2 [{'connected_gene': 'C1orf115', 'score': 572.15}, {'connected_gene': 'MARC1', 'score': 6.46}, {'connected_gene': 'MARC2', 'score': 0.22}, {'connected_gene': 'GC01M220652', 'score': 0.04}]
chr1 GH01I220760 220760842 220763436 0.59 [{'connected_gene': 'C1orf115', 'score': 18.66}, {'connected_gene': 'MARC1', 'score': 10.3}, {'connected_gene': 'MARC2', 'score': 4.49}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220777 220777801 220778800 0.2 [{'connected_gene': 'C1orf115', 'score': 23.45}, {'connected_gene': 'MARC2', 'score': 12.03}, {'connected_gene': 'MARC1', 'score': 0.44}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220711 220711559 220711648 0.62 [{'connected_gene': 'C1orf115', 'score': 12.53}, {'connected_gene': 'MARC2', 'score': 0.28}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220709 220709139 220709288 0.38 [{'connected_gene': 'C1orf115', 'score': 10.45}, {'connected_gene': 'MARC2', 'score': 0.28}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220514 220514795 220517324 0.2 [{'connected_gene': 'C1orf115', 'score': 9.11}, {'connected_gene': 'MARK1', 'score': 5.51}, {'connected_gene': 'LOC105372928', 'score': 0.31}]
chr1 GH01I220770 220770133 220771037 0.59 [{'connected_gene': 'MARC1', 'score': 16.0}, {'connected_gene': 'C1orf115', 'score': 11.37}, {'connected_gene': 'MARC2', 'score': 0.34}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220785 220785515 220789424 2 [{'connected_gene': 'MARC1', 'score': 566.72}, {'connected_gene': 'C1orf115', 'score': 8.59}, {'connected_gene': 'RNU6ATAC35P', 'score': 0.28}, {'connected_gene': 'GC01M220652', 'score': 0.06}]
chr1 GH01I220695 220695459 220695520 0.25 [{'connected_gene': 'MARC2', 'score': 16.71}, {'connected_gene': 'C1orf115', 'score': 12.97}, {'connected_gene': 'MARC1', 'score': 1.46}, {'connected_gene': 'GC01M220652', 'score': 0.04}]
chr1 GH01I220746 220746754 220751987 2.18 [{'connected_gene': 'MARC2', 'score': 550.77}, {'connected_gene': 'C1orf115', 'score': 11.2}, {'connected_gene': 'MARC1', 'score': 9.35}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220698 220698779 220698928 0.77 [{'connected_gene': 'MARC2', 'score': 10.31}, {'connected_gene': 'C1orf115', 'score': 0.44}, {'connected_gene': 'GC01M220652', 'score': 0.05}]
chr1 GH01I220483 220483349 220485025 0.43 [{'connected_gene': 'MARK1', 'score': 6.79}, {'connected_gene': 'C1orf115', 'score': 4.08}, {'connected_gene': 'LOC105372929', 'score': 0.77}, {'connected_gene': 'PIR56189', 'score': 0.44}]
chr1 GH01I220527 220527129 220530158 1.95 [{'connected_gene': 'MARK1', 'score': 550.77}, {'connected_gene': 'RAB3GAP2', 'score': 14.1}, {'connected_gene': 'RPS15AP12', 'score': 12.32}, {'connected_gene': 'C1orf115', 'score': 7.88}, {'connected_gene': 'GC01P220568', 'score': 0.28}]
chr1 GH01I221435 221435099 221436000 0.96 [{'connected_gene': 'HLX', 'score': 10.95}, {'connected_gene': 'C1orf115', 'score': 4.84}, {'connected_gene': 'PIR33032', 'score': 0.31}, {'connected_gene': 'LOC105372934', 'score': 0.2}]
chr1 GH01I220336 220336094 220339871 1.08 [{'connected_gene': 'RAB3GAP2', 'score': 10.03}, {'connected_gene': 'C1orf115', 'score': 9.37}, {'connected_gene': 'RPLP0P5', 'score': 0.34}, {'connected_gene': 'ENSG00000226927', 'score': 0.34}, {'connected_gene': 'GC01P220287', 'score': 0.23}]
chr1 GH01I220274 220274228 220274935 0.96 [{'connected_gene': 'RPS15AP12', 'score': 10.59}, {'connected_gene': 'C1orf115', 'score': 9.15}, {'connected_gene': 'RAB3GAP2', 'score': 0.77}, {'connected_gene': 'GC01P220287', 'score': 0.39}]
chr1 GH01I220218 220218779 220218928 0.64 [{'connected_gene': 'ENSG00000270708', 'score': 550.77}, {'connected_gene': 'RAB3GAP2', 'score': 11.35}, {'connected_gene': 'C1orf115', 'score': 8.65}, {'connected_gene': 'ENSG00000272823', 'score': 4.9}, {'connected_gene': 'SNX2P1', 'score': 0.39}]
chr1 GH01I220299 220299926 220301477 1.19 [{'connected_gene': 'GC01M220298', 'score': 550.77}, {'connected_gene': 'RAB3GAP2', 'score': 21.77}, {'connected_gene': 'RPS15AP12', 'score': 21.62}, {'connected_gene': 'SNX2P1', 'score': 9.94}, {'connected_gene': 'C1orf115', 'score': 9.73}, {'connected_gene': 'GC01P220287', 'score': 0.39}, {'connected_gene': 'XRCC6P3', 'score': 0.37}]