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
ENST00000444870 [[3689351, 3689405], [3689626, 3689745], [3691862, 3692047], [3692358, 3692546]] [[3691937, 3692047], [3692358, 3692485]]
ENST00000452264 [[3689388, 3689745], [3691862, 3691952]] [[3691937, 3691952]]
ENST00000561886 [[3689626, 3689745], [3691862, 3692234]] [[3691937, 3692051]]
NM_001288583 [[3689324, 3689352], [3689626, 3689745], [3691862, 3692047], [3692358, 3692546]] [[3691937, 3692047], [3692358, 3692485]]
NM_001163724 [[3689350, 3689405], [3689626, 3689745], [3691862, 3692047], [3692358, 3692546]] [[3691937, 3692047], [3692358, 3692485]]
Promoter
Chrom Start End Description
chr1 3689211 3689226 CAGE_peak_1_at_LOC388588_5end
chr1 3689307 3689321 CAGE_peak_3_at_LOC388588_5end
chr1 3689325 3689369 CAGE_peak_2_at_LOC388588_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I003843 3843001 3843400 0.31 [{'connected_gene': 'CEP104', 'score': 37.77}, {'connected_gene': 'SMIM1', 'score': 7.12}, {'connected_gene': 'DFFB', 'score': 0.39}, {'connected_gene': 'LRRC47', 'score': 0.25}]
chr1 GH01I003856 3856200 3858381 2.04 [{'connected_gene': 'CEP104', 'score': 588.86}, {'connected_gene': 'DFFB', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 19.76}, {'connected_gene': 'WRAP73', 'score': 16.0}, {'connected_gene': 'SMIM1', 'score': 15.68}, {'connected_gene': 'ENSG00000272153', 'score': 14.12}]
chr1 GH01I003795 3795086 3797526 2.07 [{'connected_gene': 'LRRC47', 'score': 555.24}, {'connected_gene': 'PIR46973', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 19.65}, {'connected_gene': 'CEP104', 'score': 18.92}, {'connected_gene': 'SMIM1', 'score': 18.42}, {'connected_gene': 'WRAP73', 'score': 16.03}, {'connected_gene': 'ENSG00000272153', 'score': 14.32}]
chr1 GH01I003792 3792714 3794515 0.8 [{'connected_gene': 'SMIM1', 'score': 18.47}, {'connected_gene': 'CEP104', 'score': 18.34}, {'connected_gene': 'LRRC47', 'score': 11.41}, {'connected_gene': 'PIR46973', 'score': 0.77}, {'connected_gene': 'ENSG00000272153', 'score': 0.44}]
chr1 GH01I003787 3787131 3788511 0.69 [{'connected_gene': 'SMIM1', 'score': 21.74}, {'connected_gene': 'CEP104', 'score': 21.38}, {'connected_gene': 'ENSG00000272153', 'score': 0.77}, {'connected_gene': 'PIR46973', 'score': 0.44}, {'connected_gene': 'LRRC47', 'score': 0.44}]
chr1 GH01I003771 3771634 3776875 2.27 [{'connected_gene': 'SMIM1', 'score': 581.69}, {'connected_gene': 'CEP104', 'score': 28.38}, {'connected_gene': 'C1orf174', 'score': 16.45}, {'connected_gene': 'WRAP73', 'score': 13.59}, {'connected_gene': 'ENSG00000272153', 'score': 11.94}, {'connected_gene': 'TP73-AS1', 'score': 10.26}, {'connected_gene': 'LRRC47', 'score': 6.28}, {'connected_gene': 'GC01P003777', 'score': 0.77}, {'connected_gene': 'CCDC27', 'score': 0.31}]
chr1 GH01I003811 3811361 3811800 0.69 [{'connected_gene': 'SMIM1', 'score': 18.19}, {'connected_gene': 'LRRC47', 'score': 0.37}, {'connected_gene': 'DFFB', 'score': 0.25}]
chr1 GH01I003868 3868992 3870503 0.79 [{'connected_gene': 'DFFB', 'score': 12.27}, {'connected_gene': 'C1orf174', 'score': 9.62}, {'connected_gene': 'SMIM1', 'score': 5.9}, {'connected_gene': 'CEP104', 'score': 0.39}, {'connected_gene': 'PIR62209', 'score': 0.34}]
chr1 GH01I003752 3752401 3752460 0.5 [{'connected_gene': 'CCDC27', 'score': 550.44}, {'connected_gene': 'GC01P003748', 'score': 0.77}, {'connected_gene': 'SMIM1', 'score': 0.34}]
chr1 GH01I003776 3776937 3777061 0.31 [{'connected_gene': 'GC01P003777', 'score': 550.77}, {'connected_gene': 'CEP104', 'score': 9.52}, {'connected_gene': 'SMIM1', 'score': 0.77}]
chr1 GH01I003778 3778202 3778316 0.43 [{'connected_gene': 'GC01P003777', 'score': 550.77}, {'connected_gene': 'SMIM1', 'score': 25.74}, {'connected_gene': 'C1orf174', 'score': 11.12}, {'connected_gene': 'WRAP73', 'score': 10.34}, {'connected_gene': 'MEGF6', 'score': 10.27}, {'connected_gene': 'CEP104', 'score': 8.82}, {'connected_gene': 'RN7SL574P', 'score': 0.77}]