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
ENST00000322563 [[75897368, 75898283], [75902607, 75902900], [75905610, 75905888], [75907526, 75907762], [75917368, 75917576]] [[75898108, 75898283], [75902607, 75902900], [75905610, 75905888], [75907526, 75907762], [75917368, 75917451]]
ENST00000529461 [[75917435, 75917542], [75917918, 75917999], [75921515, 75921780]] [[75917435, 75917451]]
ENST00000532150 [[75917465, 75917542], [75921390, 75921774]] None
NM_004626 [[75897369, 75898283], [75902607, 75902900], [75905610, 75905888], [75907526, 75907762], [75917368, 75917574]] [[75898108, 75898283], [75902607, 75902900], [75905610, 75905888], [75907526, 75907762], [75917368, 75917451]]
Promoter
Chrom Start End Description
chr11 75917529 75917555 CAGE_peak_2_at_WNT11_5end
chr11 75917569 75917576 CAGE_peak_3_at_WNT11_5end
chr11 75921800 75921806 CAGE_peak_1_at_WNT11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I076146 76146642 76149839 0.94 [{'connected_gene': 'WNT11', 'score': 11.47}, {'connected_gene': 'DGAT2', 'score': 10.81}, {'connected_gene': 'ENSG00000254814', 'score': 10.81}, {'connected_gene': 'MOGAT2', 'score': 10.43}, {'connected_gene': 'UVRAG', 'score': 5.49}, {'connected_gene': 'LOC100506113', 'score': 4.8}, {'connected_gene': 'ENSG00000255421', 'score': 0.39}, {'connected_gene': 'GC11P076191', 'score': 0.26}]
chr11 GH11I076330 76330057 76330206 0.2 [{'connected_gene': 'WNT11', 'score': 11.81}, {'connected_gene': 'LOC105369395', 'score': 0.25}, {'connected_gene': 'THAP12', 'score': 0.23}]
chr11 GH11I076329 76329197 76329346 0.8 [{'connected_gene': 'WNT11', 'score': 11.81}, {'connected_gene': 'LOC105369395', 'score': 0.26}, {'connected_gene': 'THAP12', 'score': 0.23}]
chr11 GH11I076250 76250801 76252056 0.76 [{'connected_gene': 'WNT11', 'score': 5.45}, {'connected_gene': 'PIR48934', 'score': 0.44}, {'connected_gene': 'LOC105369395', 'score': 0.29}]
chr11 GH11I076264 76264911 76268032 1.12 [{'connected_gene': 'WNT11', 'score': 5.08}, {'connected_gene': 'LOC105369395', 'score': 0.37}, {'connected_gene': 'PIR48934', 'score': 0.34}]
chr11 GH11I076205 76205602 76210846 2.31 [{'connected_gene': 'WNT11', 'score': 552.69}, {'connected_gene': 'GC11P076210', 'score': 550.77}, {'connected_gene': 'ENSG00000255362', 'score': 7.2}, {'connected_gene': 'ENSG00000261578', 'score': 5.9}, {'connected_gene': 'LOC101928837', 'score': 4.75}, {'connected_gene': 'ENSG00000254933', 'score': 0.37}]
chr11 GH11I076558 76558983 76561101 0.72 [{'connected_gene': 'LRRC32', 'score': 11.26}, {'connected_gene': 'ENSG00000254975', 'score': 11.25}, {'connected_gene': 'WNT11', 'score': 4.57}, {'connected_gene': 'PIR57504', 'score': 0.34}, {'connected_gene': 'EMSY', 'score': 0.13}]
chr11 GH11I076368 76368997 76370196 0.4 [{'connected_gene': 'GVQW3', 'score': 7.26}, {'connected_gene': 'ENSG00000255135', 'score': 5.99}, {'connected_gene': 'WNT11', 'score': 4.79}, {'connected_gene': 'THAP12', 'score': 0.39}, {'connected_gene': 'LOC105369395', 'score': 0.17}]
chr11 GH11I076233 76233278 76237530 1.73 [{'connected_gene': 'TRP-TGG2-1', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-4', 'score': 550.77}, {'connected_gene': 'PIR59119', 'score': 550.77}, {'connected_gene': 'GC11M076236', 'score': 550.77}, {'connected_gene': 'EMSY', 'score': 34.32}, {'connected_gene': 'RPS3', 'score': 23.48}, {'connected_gene': 'WNT11', 'score': 13.18}, {'connected_gene': 'GVQW3', 'score': 11.62}, {'connected_gene': 'SNORD15B', 'score': 11.59}, {'connected_gene': 'ENSG00000272301', 'score': 11.12}, {'connected_gene': 'ENSG00000255362', 'score': 6.8}]
chr11 GH11I076152 76152001 76154286 1.37 [{'connected_gene': 'ENSG00000254814', 'score': 11.53}, {'connected_gene': 'DGAT2', 'score': 11.53}, {'connected_gene': 'WNT11', 'score': 11.47}, {'connected_gene': 'EMSY', 'score': 10.87}, {'connected_gene': 'MOGAT2', 'score': 10.43}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'ENSG00000254429', 'score': 4.21}, {'connected_gene': 'ENSG00000255421', 'score': 0.37}, {'connected_gene': 'GC11P076191', 'score': 0.28}]
chr11 GH11I076243 76243317 76243446 0.46 [{'connected_gene': 'PIR48934', 'score': 550.77}, {'connected_gene': 'WNT11', 'score': 11.79}, {'connected_gene': 'LOC105369395', 'score': 0.26}]
chr11 GH11I076184 76184057 76187838 0.89 [{'connected_gene': 'GC11P076191', 'score': 0.77}, {'connected_gene': 'WNT11', 'score': 0.31}, {'connected_gene': 'ENSG00000255421', 'score': 0.25}]