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
ENST00000221114 [[30013812, 30013922], [30021626, 30021691], [30032600, 30032706], [30034641, 30034730], [30036923, 30036971], [30038003, 30038146], [30040590, 30041156]] [[30013899, 30013922], [30021626, 30021691], [30032600, 30032706], [30034641, 30034730], [30036923, 30036971], [30038003, 30038146], [30040590, 30040689]]
ENST00000522141 [[30013834, 30013922], [30021626, 30021691], [30034641, 30034730], [30036923, 30036971], [30038003, 30038146], [30040590, 30040977]] [[30013899, 30013922], [30021626, 30021691], [30034641, 30034694]]
ENST00000522540 [[30013884, 30013922], [30021626, 30021691], [30032600, 30032706], [30034641, 30035010]] None
ENST00000520829 [[30013884, 30013922], [30021626, 30021691], [30032600, 30032706], [30034641, 30034730], [30036923, 30036971], [30038003, 30038537]] [[30013899, 30013922], [30021626, 30021691], [30032600, 30032706], [30034641, 30034730], [30036923, 30036971], [30038003, 30038185]]
ENST00000523666 [[30013885, 30013922], [30021626, 30021691], [30032600, 30032706], [30036923, 30036971], [30038003, 30038146], [30040590, 30041069]] [[30013899, 30013922], [30021626, 30021691], [30032600, 30032706], [30036923, 30036951]]
ENST00000519830 [[30013890, 30013922], [30021626, 30021691], [30023231, 30023417], [30032600, 30032706], [30034641, 30034730], [30036923, 30036971], [30038003, 30038017]] [[30013899, 30013922], [30021626, 30021691], [30023231, 30023257]]
NM_006571 [[30013812, 30013922], [30021626, 30021691], [30032600, 30032706], [30034641, 30034730], [30036923, 30036971], [30038003, 30038146], [30040590, 30041155]] [[30013899, 30013922], [30021626, 30021691], [30032600, 30032706], [30034641, 30034730], [30036923, 30036971], [30038003, 30038146], [30040590, 30040689]]
Promoter
Chrom Start End Description
chr8 30013422 30013433 CAGE_peak_4_at_DCTN6_5end
chr8 30013533 30013537 CAGE_peak_3_at_DCTN6_5end
chr8 30013858 30013872 CAGE_peak_2_at_DCTN6_5end
chr8 30013875 30013900 CAGE_peak_1_at_DCTN6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I030155 30155136 30158594 2.08 [{'connected_gene': 'DCTN6', 'score': 550.77}, {'connected_gene': 'ENSG00000271869', 'score': 550.77}, {'connected_gene': 'MBOAT4', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 24.2}, {'connected_gene': 'LEPROTL1', 'score': 16.59}, {'connected_gene': 'SARAF', 'score': 12.25}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'HSPA8P11', 'score': 9.98}]
chr8 GH08I030168 30168678 30170514 0.97 [{'connected_gene': 'RNU6-1218P', 'score': 10.58}, {'connected_gene': 'HSPA8P11', 'score': 6.07}, {'connected_gene': 'LEPROTL1', 'score': 5.4}, {'connected_gene': 'ENSG00000271869', 'score': 5.38}, {'connected_gene': 'ENSG00000253708', 'score': 0.39}, {'connected_gene': 'DCTN6', 'score': 0.39}, {'connected_gene': 'MBOAT4', 'score': 0.39}]
chr8 GH08I030173 30173123 30173234 0.66 [{'connected_gene': 'RBPMS-AS1', 'score': 10.33}, {'connected_gene': 'RBPMS', 'score': 10.33}, {'connected_gene': 'RNU6-1218P', 'score': 10.17}, {'connected_gene': 'ENSG00000253708', 'score': 0.44}, {'connected_gene': 'MBOAT4', 'score': 0.39}, {'connected_gene': 'DCTN6', 'score': 0.37}, {'connected_gene': 'LEPROTL1', 'score': 0.18}]
chr8 GH08I030174 30173828 30174454 0.78 [{'connected_gene': 'RBPMS-AS1', 'score': 10.33}, {'connected_gene': 'RBPMS', 'score': 10.33}, {'connected_gene': 'RNU6-1218P', 'score': 10.16}, {'connected_gene': 'ENSG00000253708', 'score': 0.44}, {'connected_gene': 'DCTN6', 'score': 0.37}, {'connected_gene': 'MBOAT4', 'score': 0.37}, {'connected_gene': 'LEPROTL1', 'score': 0.18}]