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
ENST00000296795 [[186990305, 186990402], [186997766, 186998214], [186999993, 187000185], [187003473, 187005326], [187005798, 187009223]] [[186997773, 186998214], [186999993, 187000185], [187003473, 187005326], [187005798, 187006027]]
ENST00000513189 [[186990308, 186990402], [186997766, 186998214], [186999993, 187000185], [187003473, 187003704], [187003896, 187004087]] [[186997773, 186998214], [186999993, 187000185], [187003473, 187003704], [187003896, 187004087]]
ENST00000512264 [[187002764, 187005326], [187005798, 187006178]] None
ENST00000504367 [[187002770, 187002982], [187003473, 187005326], [187005798, 187006043]] [[187003671, 187005326], [187005798, 187006027]]
ENST00000508051 [[187002772, 187003002], [187003473, 187003871]] None
NM_003265 [[186990308, 186990402], [186997766, 186998214], [186999993, 187000185], [187003473, 187005326], [187005798, 187006252]] [[186997773, 186998214], [186999993, 187000185], [187003473, 187005326], [187005798, 187006027]]
Promoter
Chrom Start End Description
chr4 186990298 186990342 CAGE_peak_1_at_TLR3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I185835 185835467 185842375 1.5 [{'connected_gene': 'SORBS2', 'score': 17.75}, {'connected_gene': 'TLR3', 'score': 5.3}, {'connected_gene': 'CCDC110', 'score': 4.91}, {'connected_gene': 'RPSAP70', 'score': 4.86}, {'connected_gene': 'LOC101928929', 'score': 0.21}, {'connected_gene': 'GC04M185710', 'score': 0.13}, {'connected_gene': 'ENSG00000207497', 'score': 0.13}]
chr4 GH04I186028 186028554 186032903 0.83 [{'connected_gene': 'TLR3', 'score': 9.99}, {'connected_gene': 'CFAP97', 'score': 4.68}, {'connected_gene': 'RNU4-64P', 'score': 0.77}]
chr4 GH04I186067 186067667 186070048 1.72 [{'connected_gene': 'TLR3', 'score': 550.77}, {'connected_gene': 'RNU4-64P', 'score': 0.26}]
chr4 GH04I186049 186049837 186051365 0.2 [{'connected_gene': 'FAM149A', 'score': 11.26}, {'connected_gene': 'ENSG00000253013', 'score': 10.8}, {'connected_gene': 'TLR3', 'score': 0.37}, {'connected_gene': 'RNU4-64P', 'score': 0.34}]
chr4 GH04I186133 186133027 186133136 0.46 [{'connected_gene': 'FAM149A', 'score': 11.45}, {'connected_gene': 'TLR3', 'score': 10.78}, {'connected_gene': 'ENSG00000253013', 'score': 0.77}, {'connected_gene': 'RPSAP70', 'score': 0.34}]
chr4 GH04I186143 186143972 186145868 1.7 [{'connected_gene': 'FAM149A', 'score': 587.19}, {'connected_gene': 'CYP4V2', 'score': 11.52}, {'connected_gene': 'TLR3', 'score': 10.75}, {'connected_gene': 'ENSG00000253013', 'score': 0.39}, {'connected_gene': 'RPSAP70', 'score': 0.39}]
chr4 GH04I186150 186150067 186150296 0.46 [{'connected_gene': 'FAM149A', 'score': 17.23}, {'connected_gene': 'ENSG00000253013', 'score': 11.83}, {'connected_gene': 'CYP4V2', 'score': 11.12}, {'connected_gene': 'TLR3', 'score': 10.74}, {'connected_gene': 'RPSAP70', 'score': 0.44}]
chr4 GH04I186038 186038307 186038436 0.64 [{'connected_gene': 'RNU4-64P', 'score': 0.39}, {'connected_gene': 'TLR3', 'score': 0.29}]
chr4 GH04I186027 186027884 186028132 0.2 [{'connected_gene': 'RNU4-64P', 'score': 550.77}, {'connected_gene': 'TLR3', 'score': 0.26}]
chr4 GH04I186058 186058807 186058936 0.49 [{'connected_gene': 'ENSG00000253013', 'score': 11.19}, {'connected_gene': 'CYP4V2', 'score': 10.26}, {'connected_gene': 'SORBS2', 'score': 9.76}, {'connected_gene': 'TLR3', 'score': 0.39}, {'connected_gene': 'RNU4-64P', 'score': 0.29}]
chr4 GH04I186080 186080787 186082070 0.58 [{'connected_gene': 'GC04P186084', 'score': 550.77}, {'connected_gene': 'GC04P186083', 'score': 550.77}, {'connected_gene': 'GC04P186085', 'score': 550.77}, {'connected_gene': 'GC04P186087', 'score': 550.77}, {'connected_gene': 'GC04P186086', 'score': 550.77}, {'connected_gene': 'ENSG00000253013', 'score': 10.71}, {'connected_gene': 'CYP4V2', 'score': 9.71}, {'connected_gene': 'TLR3', 'score': 0.39}]
chr4 GH04I186078 186078587 186079927 0.49 [{'connected_gene': 'ENSG00000253013', 'score': 10.69}, {'connected_gene': 'CYP4V2', 'score': 9.7}, {'connected_gene': 'FAT1', 'score': 5.46}, {'connected_gene': 'GC04P186084', 'score': 0.77}, {'connected_gene': 'GC04P186083', 'score': 0.77}, {'connected_gene': 'GC04P186085', 'score': 0.77}, {'connected_gene': 'GC04P186087', 'score': 0.77}, {'connected_gene': 'GC04P186086', 'score': 0.77}, {'connected_gene': 'TLR3', 'score': 0.39}]