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
ENST00000368171 [[158149736, 158149952], [158150608, 158150952], [158151244, 158151511], [158151821, 158152100], [158152667, 158152946], [158153725, 158153825], [158153918, 158154686]] [[158150891, 158150952], [158151244, 158151511], [158151821, 158152100], [158152667, 158152946], [158153725, 158153825], [158153918, 158153940]]
NM_001319145 [[158149736, 158149952], [158150608, 158150952], [158151244, 158151511], [158151821, 158152100], [158153725, 158153825], [158153918, 158154686]] [[158150891, 158150952], [158151244, 158151511], [158151821, 158152100], [158153725, 158153825], [158153918, 158153940]]
NM_001766 [[158149736, 158149952], [158150608, 158150952], [158151244, 158151511], [158151821, 158152100], [158152667, 158152946], [158153725, 158153825], [158153918, 158156217]] [[158150891, 158150952], [158151244, 158151511], [158151821, 158152100], [158152667, 158152946], [158153725, 158153825], [158153918, 158153940]]
Promoter
Chrom Start End Description
chr1 158150653 158150699 CAGE_peak_1_at_CD1D_5end
chr1 158150706 158150732 CAGE_peak_2_at_CD1D_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I158247 158247601 158249800 1.3 [{'connected_gene': 'CD1A', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 14.02}, {'connected_gene': 'CD1E', 'score': 5.94}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'CD1B', 'score': 3.81}, {'connected_gene': 'OR10T2', 'score': 2.31}, {'connected_gene': 'GC01P158261', 'score': 0.44}, {'connected_gene': 'GC01P158260', 'score': 0.44}]
chr1 GH01I158154 158154001 158154600 0.6 [{'connected_gene': 'CD1D', 'score': 11.4}, {'connected_gene': 'ELL2P1', 'score': 11.4}, {'connected_gene': 'CD1A', 'score': 10.19}, {'connected_gene': 'CD1C', 'score': 9.63}, {'connected_gene': 'LINC01704', 'score': 0.44}, {'connected_gene': 'LOC105371460', 'score': 0.39}]
chr1 GH01I158177 158177391 158178543 1.52 [{'connected_gene': 'CD1D', 'score': 555.18}, {'connected_gene': 'ELL2P1', 'score': 550.77}, {'connected_gene': 'ENSG00000176320', 'score': 5.76}, {'connected_gene': 'LINC01704', 'score': 0.29}]
chr1 GH01I158176 158176909 158177279 0.66 [{'connected_gene': 'CD1D', 'score': 550.77}, {'connected_gene': 'ELL2P1', 'score': 550.77}, {'connected_gene': 'LINC01704', 'score': 0.29}]
chr1 GH01I158179 158179285 158181860 2.02 [{'connected_gene': 'CD1D', 'score': 550.77}, {'connected_gene': 'ENSG00000176320', 'score': 5.73}, {'connected_gene': 'ELL2P1', 'score': 0.77}, {'connected_gene': 'GC01M158195', 'score': 0.37}]
chr1 GH01I158188 158188564 158189924 0.31 [{'connected_gene': 'CD1D', 'score': 17.95}, {'connected_gene': 'GC01M158195', 'score': 0.44}, {'connected_gene': 'ELL2P1', 'score': 0.39}]
chr1 GH01I158162 158162601 158163800 0.71 [{'connected_gene': 'CD1D', 'score': 0.39}, {'connected_gene': 'LINC01704', 'score': 0.37}, {'connected_gene': 'LOC105371460', 'score': 0.34}]
chr1 GH01I158144 158144771 158150970 1.34 [{'connected_gene': 'LINC01704', 'score': 550.77}, {'connected_gene': 'CD1D', 'score': 11.35}, {'connected_gene': 'ELL2P1', 'score': 11.35}, {'connected_gene': 'KIRREL1', 'score': 9.89}, {'connected_gene': 'OR10R2', 'score': 3.38}, {'connected_gene': 'OR10X1', 'score': 1.33}, {'connected_gene': 'LOC105371460', 'score': 0.44}]
chr1 GH01I158818 158818401 158820469 1.61 [{'connected_gene': 'MNDA', 'score': 17.09}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'PYHIN1', 'score': 1.31}, {'connected_gene': 'IFI16', 'score': 1.21}, {'connected_gene': 'OR10AA1P', 'score': 0.39}]
chr1 GH01I158208 158208239 158209907 0.2 [{'connected_gene': 'ENSG00000176320', 'score': 15.86}, {'connected_gene': 'CD1D', 'score': 15.84}, {'connected_gene': 'ELL2P1', 'score': 10.81}, {'connected_gene': 'CD1B', 'score': 10.17}, {'connected_gene': 'GC01P158217', 'score': 0.44}]
chr1 GH01I158185 158185672 158186981 0.52 [{'connected_gene': 'ENSG00000176320', 'score': 6.12}, {'connected_gene': 'GC01M158195', 'score': 0.44}, {'connected_gene': 'CD1D', 'score': 0.44}, {'connected_gene': 'ELL2P1', 'score': 0.44}]