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
ENST00000371531 [[94833231, 94833591], [94834064, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837641]] [[94834082, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837061]]
ENST00000224356 [[94833646, 94833880], [94834064, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837647]] [[94833691, 94833880], [94834064, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837061]]
ENST00000394139 [[94833646, 94833880], [94834064, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837647]] [[94834082, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837061]]
NM_057157 [[94833231, 94833591], [94834064, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837641]] [[94834082, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837061]]
NM_000783 [[94833646, 94833880], [94834064, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837641]] [[94833691, 94833880], [94834064, 94834289], [94834535, 94834826], [94834905, 94835064], [94835582, 94835717], [94836300, 94836453], [94836719, 94837061]]
Promoter
Chrom Start End Description
chr10 94833642 94833655 CAGE_peak_1_at_CYP26A1_5end
chr10 94833710 94833721 CAGE_peak_2_at_CYP26A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I093514 93514602 93516800 0.6 [{'connected_gene': 'CEP55', 'score': 19.2}, {'connected_gene': 'FFAR4', 'score': 10.88}, {'connected_gene': 'CYP26A1', 'score': 10.43}, {'connected_gene': 'RNA5SP323', 'score': 0.44}, {'connected_gene': 'GC10M093511', 'score': 0.44}, {'connected_gene': 'GC10M093549', 'score': 0.28}]
chr10 GH10I093378 93378829 93381774 0.97 [{'connected_gene': 'MYOF', 'score': 13.22}, {'connected_gene': 'CYP26A1', 'score': 10.4}, {'connected_gene': 'GC10P093383', 'score': 0.77}, {'connected_gene': 'RPL17P34', 'score': 0.15}]
chr10 GH10I093375 93375530 93378468 1.48 [{'connected_gene': 'MYOF', 'score': 15.27}, {'connected_gene': 'CYP26A1', 'score': 10.4}, {'connected_gene': 'HHEX', 'score': 4.69}, {'connected_gene': 'GC10P093383', 'score': 0.44}, {'connected_gene': 'RPL17P34', 'score': 0.16}]
chr10 GH10I093395 93395552 93399473 0.2 [{'connected_gene': 'MYOF', 'score': 17.41}, {'connected_gene': 'CYP26A1', 'score': 10.85}, {'connected_gene': 'GC10P093383', 'score': 0.39}, {'connected_gene': 'GC10M093427', 'score': 0.31}]
chr10 GH10I093267 93267164 93268685 0.75 [{'connected_gene': 'CYP26A1', 'score': 10.75}, {'connected_gene': 'RPL17P34', 'score': 0.37}, {'connected_gene': 'XRCC6P1', 'score': 0.22}]
chr10 GH10I093299 93299129 93300534 0.38 [{'connected_gene': 'CYP26A1', 'score': 11.07}, {'connected_gene': 'RPL17P34', 'score': 0.37}, {'connected_gene': 'GC10P093383', 'score': 0.18}]
chr10 GH10I093294 93294124 93294273 0.2 [{'connected_gene': 'CYP26A1', 'score': 11.66}, {'connected_gene': 'RPL17P34', 'score': 0.44}, {'connected_gene': 'GC10P093383', 'score': 0.17}]
chr10 GH10I092885 92885064 92885133 0.54 [{'connected_gene': 'CYP26A1', 'score': 11.01}, {'connected_gene': 'ENSG00000225118', 'score': 0.44}, {'connected_gene': 'EXOC6', 'score': 0.23}, {'connected_gene': 'ENSG00000226425', 'score': 0.1}]
chr10 GH10I093071 93071522 93075509 1.91 [{'connected_gene': 'CYP26A1', 'score': 557.2}, {'connected_gene': 'ENSG00000279607', 'score': 550.77}, {'connected_gene': 'PDE6C', 'score': 13.89}, {'connected_gene': 'EXOC6', 'score': 5.74}, {'connected_gene': 'GC10M093106', 'score': 0.29}, {'connected_gene': 'NIP7P1', 'score': 0.29}]
chr10 GH10I093352 93352495 93353286 0.64 [{'connected_gene': 'CYP26A1', 'score': 12.35}, {'connected_gene': 'CYP26C1', 'score': 10.98}, {'connected_gene': 'ENSG00000226425', 'score': 10.98}, {'connected_gene': 'GC10P093383', 'score': 0.29}, {'connected_gene': 'RPL17P34', 'score': 0.2}, {'connected_gene': 'MYOF', 'score': 0.13}]
chr10 GH10I093401 93401046 93402755 0.43 [{'connected_gene': 'CYP26A1', 'score': 10.85}, {'connected_gene': 'GC10P093383', 'score': 0.37}, {'connected_gene': 'GC10M093427', 'score': 0.31}, {'connected_gene': 'MYOF', 'score': 0.18}]
chr10 GH10I093403 93403201 93403993 0.74 [{'connected_gene': 'CYP26A1', 'score': 10.85}, {'connected_gene': 'GC10P093383', 'score': 0.34}, {'connected_gene': 'GC10M093427', 'score': 0.34}, {'connected_gene': 'MYOF', 'score': 0.18}]
chr10 GH10I093080 93080201 93080734 0.82 [{'connected_gene': 'MARK2P9', 'score': 4.85}, {'connected_gene': 'CYP26A1', 'score': 0.44}, {'connected_gene': 'GC10M093106', 'score': 0.31}, {'connected_gene': 'NIP7P1', 'score': 0.31}]
chr10 GH10I093106 93106744 93106893 0.88 [{'connected_gene': 'GC10M093106', 'score': 550.77}, {'connected_gene': 'NIP7P1', 'score': 550.77}, {'connected_gene': 'CYP26A1', 'score': 11.83}]
chr10 GH10I093097 93097504 93097653 0.46 [{'connected_gene': 'GC10M093106', 'score': 0.44}, {'connected_gene': 'NIP7P1', 'score': 0.44}, {'connected_gene': 'CYP26A1', 'score': 0.34}]
chr10 GH10I093029 93029879 93031368 0.77 [{'connected_gene': 'ENSG00000226425', 'score': 12.06}, {'connected_gene': 'CYP26C1', 'score': 12.04}, {'connected_gene': 'CYP26A1', 'score': 11.43}, {'connected_gene': 'ENSG00000225118', 'score': 0.1}, {'connected_gene': 'EXOC6', 'score': 0.08}]