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
ENST00000312465 [[81187752, 81188333], [81196062, 81196166], [81207478, 81211348]] [[81187978, 81188333], [81196062, 81196166], [81207478, 81207826]]
ENST00000456523 [[81187792, 81188333], [81207478, 81212171]] [[81187978, 81188333], [81207478, 81207495]]
ENST00000380628 [[81187978, 81188333], [81189637, 81189672]] None
ENST00000507780 [[81188095, 81188333], [81196062, 81196166], [81222436, 81222483], [81256897, 81257033], [81257701, 81257834]] [[81188095, 81188333], [81196062, 81196166], [81222436, 81222454]]
ENST00000503413 [[81189418, 81189722], [81196062, 81196166], [81207478, 81210112]] None
NM_033143 [[81187741, 81188333], [81207478, 81212171]] [[81187978, 81188333], [81207478, 81207495]]
NM_004464 [[81187741, 81188333], [81196062, 81196166], [81207478, 81212171]] [[81187978, 81188333], [81196062, 81196166], [81207478, 81207826]]
NM_001291812 [[81189418, 81189722], [81196062, 81196166], [81207478, 81212171]] [[81196136, 81196166], [81207478, 81207826]]
Promoter
Chrom Start End Description
chr4 81187809 81187827 CAGE_peak_1_at_FGF5_5end
chr4 81189409 81189435 CAGE_peak_2_at_FGF5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I081191 81191895 81194410 0.31 [{'connected_gene': 'PRKG2', 'score': 16.45}, {'connected_gene': 'LOC101928942', 'score': 11.57}, {'connected_gene': 'FGF5', 'score': 4.44}, {'connected_gene': 'GC04M081149', 'score': 0.12}]
chr4 GH04I080321 80321805 80323786 0.54 [{'connected_gene': 'MRPS25P1', 'score': 550.77}, {'connected_gene': 'C4orf22', 'score': 11.15}, {'connected_gene': 'FGF5', 'score': 0.22}]
chr4 GH04I080318 80318236 80320524 0.38 [{'connected_gene': 'C4orf22', 'score': 11.66}, {'connected_gene': 'MRPS25P1', 'score': 0.77}, {'connected_gene': 'FGF5', 'score': 0.23}]
chr4 GH04I080304 80304723 80310356 1.59 [{'connected_gene': 'C4orf22', 'score': 21.95}, {'connected_gene': 'MRPS25P1', 'score': 0.39}, {'connected_gene': 'FGF5', 'score': 0.26}]
chr4 GH04I080292 80292126 80298711 0.43 [{'connected_gene': 'C4orf22', 'score': 22.78}, {'connected_gene': 'FGF5', 'score': 11.52}, {'connected_gene': 'BMP3', 'score': 9.82}, {'connected_gene': 'MRPS25P1', 'score': 0.31}]
chr4 GH04I080284 80284944 80288059 0.46 [{'connected_gene': 'C4orf22', 'score': 5.1}, {'connected_gene': 'FGF5', 'score': 0.37}, {'connected_gene': 'MRPS25P1', 'score': 0.28}]
chr4 GH04I080335 80335127 80336401 1.92 [{'connected_gene': 'C4orf22', 'score': 550.77}, {'connected_gene': 'LOC100419739', 'score': 0.23}, {'connected_gene': 'FGF5', 'score': 0.2}]
chr4 GH04I080277 80277883 80281566 0.2 [{'connected_gene': 'FGF5', 'score': 0.39}, {'connected_gene': 'MRPS25P1', 'score': 0.26}]
chr4 GH04I080276 80276540 80277674 0.31 [{'connected_gene': 'FGF5', 'score': 0.39}, {'connected_gene': 'MRPS25P1', 'score': 0.26}]
chr4 GH04I080171 80171179 80174413 1.21 [{'connected_gene': 'ANTXR2', 'score': 19.33}, {'connected_gene': 'PRDM8', 'score': 11.97}, {'connected_gene': 'FGF5', 'score': 10.06}, {'connected_gene': 'RPSAP39', 'score': 0.39}, {'connected_gene': 'GC04M080167', 'score': 0.18}]
chr4 GH04I080218 80218007 80218258 0.42 [{'connected_gene': 'LOC105377303', 'score': 11.95}, {'connected_gene': 'PRDM8', 'score': 11.93}, {'connected_gene': 'FGF5', 'score': 10.99}, {'connected_gene': 'GC04M080238', 'score': 0.34}, {'connected_gene': 'GC04M080195', 'score': 0.34}, {'connected_gene': 'GC04M080167', 'score': 0.28}]
chr4 GH04I080213 80213121 80213735 0.51 [{'connected_gene': 'LOC105377303', 'score': 11.98}, {'connected_gene': 'PRDM8', 'score': 11.95}, {'connected_gene': 'FGF5', 'score': 10.97}, {'connected_gene': 'GC04M080195', 'score': 0.37}, {'connected_gene': 'GC04M080238', 'score': 0.31}, {'connected_gene': 'GC04M080167', 'score': 0.26}]
chr4 GH04I081195 81195187 81199270 0.66 [{'connected_gene': 'LOC101928942', 'score': 11.55}, {'connected_gene': 'PRKG2', 'score': 6.3}, {'connected_gene': 'FGF5', 'score': 4.77}, {'connected_gene': 'GC04M081149', 'score': 0.12}]
chr4 GH04I080264 80264452 80270188 2.31 [{'connected_gene': 'GC04M080267', 'score': 550.77}, {'connected_gene': 'FGF5', 'score': 550.77}, {'connected_gene': 'MRPS25P1', 'score': 0.23}]
chr4 GH04I080234 80234665 80241752 1.14 [{'connected_gene': 'GC04M080238', 'score': 550.77}, {'connected_gene': 'FGF5', 'score': 11.62}, {'connected_gene': 'GC04M080167', 'score': 0.37}, {'connected_gene': 'GC04M080195', 'score': 0.26}]